Endometriosis Knowledgebase

Search Result

Gene id

355

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

FAS Gene UCSC Ensembl

Aliases

ALPS1A, APO-1, APT1, CD95, FAS1, FASTM, TNFRSF6

Gene name

Fas cell surface death receptor

Alternate names

tumor necrosis factor receptor superfamily member 6, APO-1 cell surface antigen, CD95 antigen, FASLG receptor, Fas (TNF receptor superfamily, member 6), Fas AMA, TNF receptor superfamily member 6, apoptosis antigen 1, apoptosis signaling receptor FAS, apoptosis-me,

Gene location

10q23.31 (88968428: 89017060) Exons: 15 NC_000010.11

Gene summary(Entrez)

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]

OMIM

134637

SNPs

rs17561

Strand: -   Allele origin: unknown  Allele change: G/T   Mutation type: snp

NC_000002.12   g.112779646C>A
NC_000002.11   g.113537223C>A
NG_008850.1   g.10749G>T
NM_000575.4   c.340G>T
NP_000566.3   p.Ala114Ser

rs1800682

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.88990206A>G
NC_000010.10   g.90749963A>G
NC_000010.11   g.88990206A>G
NG_009089.2   g.4676A>G
NG_011541.1   g.6185T>C
NM_000043.5   c.-671A>G
NM_001141945.1   c.-24+733T>C
NM_001141945.2   c.-24+733T>C
NM_001320619.1   c.-671A>G
NM_001320855.1   c.-24+816T>C
NM_152871.3   c.-671A>G
NM_152872.3   c.-671A>G
NR_028033.3   n.-353A>G
NR_028034.3   n.-353A>G
NR_028035.3   n.-353A>G
NR_028036.3   n.-353A>G
NR_135313.1   n.-353A>G
NR_135314.1   n.-1082A>G
NR_135315.1   n.-1082A>G
XR_945732.2   n.207+627A>G
XR_945733.2   n.207+627A>G
rs1304037

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp


NC_000002.11   g.113532236T>C
NC_000002.12   g.112774659T>C
NG_008850.1   g.15736A>G
NM_000575.4   c.*408A>G

rs2041748

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000664.2   g.102139835A>G
NC_000002.11   g.102756295A>G
NC_000002.12   g.102139835A>G
NM_001288706.1   c.-83-14106A>G
NM_001320978.1   c.-83-14106A>G
NM_001320980.1   c.-83-14106A>G
NM_001320981.1   c.-2167A>G
NM_001320986.1   c.-83-14106A>G
rs2856836

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000002.11   g.113532083A>G
NC_000002.12   g.112774506A>G
NG_008850.1   g.15889T>C
NM_000575.4   c.*561T>C
rs3783525

Strand: -   Allele origin: unknown  Allele change: A/T   Mutation type: snp


NC_000002.12   g.112784242T>A
NC_000002.11   g.113541819T>A
NG_008850.1   g.6153A>T
NM_000575.4   c.-9+201A>T
rs3783550

Strand: -   Allele origin: unknown  Allele change: A/C   Mutation type: snp


NC_000002.11   g.113532885G>T
NC_000002.12   g.112775308G>T
NG_008850.1   g.15087C>A
NM_000575.4   c.616-41C>A
rs3783553

Strand: -   Allele origin: unknown  Allele change: -/TTCA   Mutation type: in-del

NC_000002.12   g.112774138_112774139insTGAA
NC_000002.11   g.113531715_113531716insTGAA
NG_008850.1   g.16256_16257insTTCA
NM_000575.4   c.*928_*929insTTCA

Protein Summary

Protein general information

P25445

Name: Tumor necrosis factor receptor superfamily member 6 (Apo 1 antigen) (Apoptosis mediating surface antigen FAS) (FASLG receptor) (CD antigen CD95)

Length: 335 Mass: 37,732

Tissue specificity: Isoform 1 and isoform 6 are expressed at equal levels in resting peripheral blood mononuclear cells. After activation there is an increase in isoform 1 and decrease in the levels of isoform 6. {ECO

Sequence

MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPPGERKARDCTV
NGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCE
HGIIKECTLTSNTKCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLS
DVDLSKYITTIAGVMTLSQVKGFVRKNGVNEAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKK
ANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV

Structural information

Protein Domains	Death. (230-314)
Interpro:	IPR011029 IPR000488 IPR008063 IPR001368 IPR033998 IPR033999
Prosite:	PS50017 PS00652 PS50050
Pfam:	PF00531 PF00020
CDD:	cd08316 cd10579
PDB:	1BZI 1DDF 2NA7 3EWT 3EZQ 3THM 3TJE
PDBsum:	1BZI 1DDF 2NA7 3EWT 3EZQ 3THM 3TJE
DIP:	924
MINT:	146256
STRING:	ENSP00000347979;

Other Databases

GeneCards: FAS; Malacards: FAS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001552	ovarian follicle atresia	IEA	biological_process
GO:0002020	protease binding	IEA	molecular_function
GO:0002377	immunoglobulin production	IEA	biological_process
GO:0003014	renal system process	IEA	biological_process
GO:0004871	signal transducer activit y	TAS	molecular_function
GO:0004871	signal transducer activit y	TAS	molecular_function
GO:0004872	receptor activity	NAS	molecular_function
GO:0005031	tumor necrosis factor-act ivated receptor activity	IBA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IEA	cellular_component
GO:0005634	nucleus	IBA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	NAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	IMP	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IBA	cellular_component
GO:0006461	protein complex assembly	TAS	biological_process
GO:0006915	apoptotic process	IDA	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	TAS	biological_process
GO:0006924	activation-induced cell d eath of T cells	IEA	biological_process
GO:0006925	inflammatory cell apoptot ic process	IEA	biological_process
GO:0006954	inflammatory response	IBA	biological_process
GO:0006955	immune response	IBA	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007283	spermatogenesis	IEA	biological_process
GO:0007420	brain development	IBA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0007623	circadian rhythm	IEA	biological_process
GO:0008625	extrinsic apoptotic signa ling pathway via death do main receptors	IBA	biological_process
GO:0009636	response to toxic substan ce	IEA	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0010468	regulation of gene expres sion	IEA	biological_process
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0019724	B cell mediated immunity	IEA	biological_process
GO:0019900	kinase binding	IPI	molecular_function
GO:0021537	telencephalon development	IEA	biological_process
GO:0030141	secretory granule	IEA	cellular_component
GO:0031104	dendrite regeneration	IEA	biological_process
GO:0031264	death-inducing signaling complex	IDA	cellular_component
GO:0031264	death-inducing signaling complex	IDA	cellular_component
GO:0031265	CD95 death-inducing signa ling complex	IDA	cellular_component
GO:0032403	protein complex binding	IEA	molecular_function
GO:0032464	positive regulation of pr otein homooligomerization	IEA	biological_process
GO:0032496	response to lipopolysacch aride	IBA	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	IEA	biological_process
GO:0042127	regulation of cell prolif eration	IBA	biological_process
GO:0042383	sarcolemma	IEA	cellular_component
GO:0042493	response to drug	IEA	biological_process
GO:0042698	ovulation cycle	IEA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042981	regulation of apoptotic p rocess	NAS	biological_process
GO:0042981	regulation of apoptotic p rocess	TAS	biological_process
GO:0043005	neuron projection	IBA	cellular_component
GO:0043009	chordate embryonic develo pment	IEA	biological_process
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0043065	positive regulation of ap optotic process	IMP	biological_process
GO:0043065	positive regulation of ap optotic process	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	TAS	biological_process
GO:0043281	regulation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IBA	biological_process
GO:0043410	positive regulation of MA PK cascade	IBA	biological_process
GO:0043434	response to peptide hormo ne	IEA	biological_process
GO:0045060	negative thymic T cell se lection	IEA	biological_process
GO:0045121	membrane raft	IDA	cellular_component
GO:0045619	regulation of lymphocyte differentiation	IEA	biological_process
GO:0045637	regulation of myeloid cel l differentiation	IEA	biological_process
GO:0046898	response to cycloheximide	IEA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0048536	spleen development	IEA	biological_process
GO:0050869	negative regulation of B cell activation	IEA	biological_process
GO:0051260	protein homooligomerizati on	IEA	biological_process
GO:0051384	response to glucocorticoi d	IEA	biological_process
GO:0060135	maternal process involved in female pregnancy	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070230	positive regulation of ly mphocyte apoptotic proces s	IEA	biological_process
GO:0070301	cellular response to hydr ogen peroxide	IEA	biological_process
GO:0070848	response to growth factor	IEA	biological_process
GO:0071234	cellular response to phen ylalanine	IEA	biological_process
GO:0071260	cellular response to mech anical stimulus	IEP	biological_process
GO:0071279	cellular response to coba lt ion	IEA	biological_process
GO:0071285	cellular response to lith ium ion	IEA	biological_process
GO:0071333	cellular response to gluc ose stimulus	IEA	biological_process
GO:0071347	cellular response to inte rleukin-1	IEA	biological_process
GO:0071391	cellular response to estr ogen stimulus	IEA	biological_process
GO:0071455	cellular response to hype roxia	IMP	biological_process
GO:0071456	cellular response to hypo xia	IEA	biological_process
GO:0071464	cellular response to hydr ostatic pressure	IEA	biological_process
GO:0097049	motor neuron apoptotic pr ocess	IEA	biological_process
GO:0097190	apoptotic signaling pathw ay	TAS	biological_process
GO:0097190	apoptotic signaling pathw ay	TAS	biological_process
GO:0097191	extrinsic apoptotic signa ling pathway	IMP	biological_process
GO:0097192	extrinsic apoptotic signa ling pathway in absence o f ligand	IEA	biological_process
GO:0097284	hepatocyte apoptotic proc ess	IEA	biological_process
GO:0097296	activation of cysteine-ty pe endopeptidase activity involved in apoptotic si gnaling pathway	TAS	biological_process
GO:0097421	liver regeneration	IEA	biological_process
GO:0097440	apical dendrite	IEA	cellular_component
GO:0097527	necroptotic signaling pat hway	IMP	biological_process
GO:1902041	regulation of extrinsic a poptotic signaling pathwa y via death domain recept ors	TAS	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	TAS	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	TAS	biological_process
GO:1902617	response to fluoride	IEA	biological_process
GO:2001241	positive regulation of ex trinsic apoptotic signali ng pathway in absence of ligand	IEA	biological_process
GO:0001552	ovarian follicle atresia	IEA	biological_process
GO:0001666	response to hypoxia	IEA	biological_process
GO:0002020	protease binding	IEA	molecular_function
GO:0002377	immunoglobulin production	IEA	biological_process
GO:0003014	renal system process	IEA	biological_process
GO:0004871	signal transducer activit y	TAS	molecular_function
GO:0004871	signal transducer activit y	TAS	molecular_function
GO:0004872	receptor activity	TAS	molecular_function
GO:0004872	receptor activity	NAS	molecular_function
GO:0004888	transmembrane signaling r eceptor activity	IEA	molecular_function
GO:0005031	tumor necrosis factor-act ivated receptor activity	IEA	molecular_function
GO:0005031	tumor necrosis factor-act ivated receptor activity	IBA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005634	nucleus	IBA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	NAS	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	IMP	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IBA	cellular_component
GO:0006461	protein complex assembly	TAS	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0006915	apoptotic process	TAS	biological_process
GO:0006915	apoptotic process	TAS	biological_process
GO:0006915	apoptotic process	IDA	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	TAS	biological_process
GO:0006924	activation-induced cell d eath of T cells	IEA	biological_process
GO:0006925	inflammatory cell apoptot ic process	IEA	biological_process
GO:0006954	inflammatory response	IBA	biological_process
GO:0006955	immune response	IEA	biological_process
GO:0006955	immune response	IBA	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007283	spermatogenesis	IEA	biological_process
GO:0007420	brain development	IBA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0007623	circadian rhythm	IEA	biological_process
GO:0008625	extrinsic apoptotic signa ling pathway via death do main receptors	IEA	biological_process
GO:0008625	extrinsic apoptotic signa ling pathway via death do main receptors	IBA	biological_process
GO:0009636	response to toxic substan ce	IEA	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0009986	cell surface	IEA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0010035	response to inorganic sub stance	IEA	biological_process
GO:0010467	gene expression	IEA	biological_process
GO:0010468	regulation of gene expres sion	IEA	biological_process
GO:0010942	positive regulation of ce ll death	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0019724	B cell mediated immunity	IEA	biological_process
GO:0019900	kinase binding	IPI	molecular_function
GO:0021537	telencephalon development	IEA	biological_process
GO:0030141	secretory granule	IEA	cellular_component
GO:0031104	dendrite regeneration	IEA	biological_process
GO:0031264	death-inducing signaling complex	IEA	cellular_component
GO:0031264	death-inducing signaling complex	IDA	cellular_component
GO:0031264	death-inducing signaling complex	IDA	cellular_component
GO:0031265	CD95 death-inducing signa ling complex	IEA	cellular_component
GO:0031265	CD95 death-inducing signa ling complex	IDA	cellular_component
GO:0032403	protein complex binding	IEA	molecular_function
GO:0032464	positive regulation of pr otein homooligomerization	IEA	biological_process
GO:0032496	response to lipopolysacch aride	IEA	biological_process
GO:0032496	response to lipopolysacch aride	IBA	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	IEA	biological_process
GO:0034097	response to cytokine	IEA	biological_process
GO:0042127	regulation of cell prolif eration	IEA	biological_process
GO:0042127	regulation of cell prolif eration	IBA	biological_process
GO:0042383	sarcolemma	IEA	cellular_component
GO:0042493	response to drug	IEA	biological_process
GO:0042698	ovulation cycle	IEA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042981	regulation of apoptotic p rocess	IEA	biological_process
GO:0042981	regulation of apoptotic p rocess	NAS	biological_process
GO:0042981	regulation of apoptotic p rocess	TAS	biological_process
GO:0043005	neuron projection	IEA	cellular_component
GO:0043005	neuron projection	IBA	cellular_component
GO:0043009	chordate embryonic develo pment	IEA	biological_process
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0043029	T cell homeostasis	IEA	biological_process
GO:0043065	positive regulation of ap optotic process	IEA	biological_process
GO:0043065	positive regulation of ap optotic process	IMP	biological_process
GO:0043065	positive regulation of ap optotic process	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	TAS	biological_process
GO:0043280	positive regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IEA	biological_process
GO:0043281	regulation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IBA	biological_process
GO:0043410	positive regulation of MA PK cascade	IBA	biological_process
GO:0043434	response to peptide hormo ne	IEA	biological_process
GO:0043627	response to estrogen	IEA	biological_process
GO:0045060	negative thymic T cell se lection	IEA	biological_process
GO:0045121	membrane raft	IEA	cellular_component
GO:0045121	membrane raft	IDA	cellular_component
GO:0045619	regulation of lymphocyte differentiation	IEA	biological_process
GO:0045637	regulation of myeloid cel l differentiation	IEA	biological_process
GO:0046898	response to cycloheximide	IEA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0048536	spleen development	IEA	biological_process
GO:0050869	negative regulation of B cell activation	IEA	biological_process
GO:0051260	protein homooligomerizati on	IEA	biological_process
GO:0051384	response to glucocorticoi d	IEA	biological_process
GO:0051402	neuron apoptotic process	IEA	biological_process
GO:0060135	maternal process involved in female pregnancy	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070230	positive regulation of ly mphocyte apoptotic proces s	IEA	biological_process
GO:0070301	cellular response to hydr ogen peroxide	IEA	biological_process
GO:0070848	response to growth factor	IEA	biological_process
GO:0071234	cellular response to phen ylalanine	IEA	biological_process
GO:0071260	cellular response to mech anical stimulus	IEP	biological_process
GO:0071279	cellular response to coba lt ion	IEA	biological_process
GO:0071285	cellular response to lith ium ion	IEA	biological_process
GO:0071333	cellular response to gluc ose stimulus	IEA	biological_process
GO:0071345	cellular response to cyto kine stimulus	IEA	biological_process
GO:0071347	cellular response to inte rleukin-1	IEA	biological_process
GO:0071356	cellular response to tumo r necrosis factor	IEA	biological_process
GO:0071391	cellular response to estr ogen stimulus	IEA	biological_process
GO:0071407	cellular response to orga nic cyclic compound	IEA	biological_process
GO:0071455	cellular response to hype roxia	IMP	biological_process
GO:0071456	cellular response to hypo xia	IEA	biological_process
GO:0071464	cellular response to hydr ostatic pressure	IEA	biological_process
GO:0097049	motor neuron apoptotic pr ocess	IEA	biological_process
GO:0097190	apoptotic signaling pathw ay	IEA	biological_process
GO:0097190	apoptotic signaling pathw ay	TAS	biological_process
GO:0097190	apoptotic signaling pathw ay	TAS	biological_process
GO:0097191	extrinsic apoptotic signa ling pathway	IEA	biological_process
GO:0097191	extrinsic apoptotic signa ling pathway	IMP	biological_process
GO:0097192	extrinsic apoptotic signa ling pathway in absence o f ligand	IEA	biological_process
GO:0097284	hepatocyte apoptotic proc ess	IEA	biological_process
GO:0097296	activation of cysteine-ty pe endopeptidase activity involved in apoptotic si gnaling pathway	TAS	biological_process
GO:0097421	liver regeneration	IEA	biological_process
GO:0097440	apical dendrite	IEA	cellular_component
GO:0097527	necroptotic signaling pat hway	IEA	biological_process
GO:0097527	necroptotic signaling pat hway	IMP	biological_process
GO:1902041	regulation of extrinsic a poptotic signaling pathwa y via death domain recept ors	TAS	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	TAS	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	TAS	biological_process
GO:1902617	response to fluoride	IEA	biological_process
GO:2001238	positive regulation of ex trinsic apoptotic signali ng pathway	IEA	biological_process
GO:2001241	positive regulation of ex trinsic apoptotic signali ng pathway in absence of ligand	IEA	biological_process
GO:0004871	signal transducer activit y	TAS	molecular_function
GO:0004871	signal transducer activit y	TAS	molecular_function
GO:0004872	receptor activity	TAS	molecular_function
GO:0004872	receptor activity	NAS	molecular_function
GO:0005031	tumor necrosis factor-act ivated receptor activity	IBA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IBA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	NAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	IMP	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IBA	cellular_component
GO:0006461	protein complex assembly	TAS	biological_process
GO:0006915	apoptotic process	TAS	biological_process
GO:0006915	apoptotic process	TAS	biological_process
GO:0006915	apoptotic process	IDA	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	TAS	biological_process
GO:0006954	inflammatory response	IBA	biological_process
GO:0006955	immune response	IBA	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007420	brain development	IBA	biological_process
GO:0008625	extrinsic apoptotic signa ling pathway via death do main receptors	IBA	biological_process
GO:0009986	cell surface	IDA	cellular_component
GO:0019900	kinase binding	IPI	molecular_function
GO:0031264	death-inducing signaling complex	IDA	cellular_component
GO:0031264	death-inducing signaling complex	IDA	cellular_component
GO:0031265	CD95 death-inducing signa ling complex	IDA	cellular_component
GO:0032496	response to lipopolysacch aride	IBA	biological_process
GO:0042127	regulation of cell prolif eration	IBA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042981	regulation of apoptotic p rocess	NAS	biological_process
GO:0042981	regulation of apoptotic p rocess	TAS	biological_process
GO:0043005	neuron projection	IBA	cellular_component
GO:0043065	positive regulation of ap optotic process	IMP	biological_process
GO:0043065	positive regulation of ap optotic process	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	TAS	biological_process
GO:0043281	regulation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IBA	biological_process
GO:0043410	positive regulation of MA PK cascade	IBA	biological_process
GO:0045121	membrane raft	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071260	cellular response to mech anical stimulus	IEP	biological_process
GO:0071455	cellular response to hype roxia	IMP	biological_process
GO:0097190	apoptotic signaling pathw ay	TAS	biological_process
GO:0097190	apoptotic signaling pathw ay	TAS	biological_process
GO:0097191	extrinsic apoptotic signa ling pathway	IMP	biological_process
GO:0097296	activation of cysteine-ty pe endopeptidase activity involved in apoptotic si gnaling pathway	TAS	biological_process
GO:0097527	necroptotic signaling pat hway	IMP	biological_process
GO:1902041	regulation of extrinsic a poptotic signaling pathwa y via death domain recept ors	TAS	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	TAS	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	TAS	biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04060  Cytokine-cytokine receptor interaction
hsa05205  Proteoglycans in cancer
hsa04010  MAPK signaling pathway
hsa05167  Kaposi's sarcoma-associated herpesvirus infection
hsa05168  Herpes simplex infection
hsa05161  Hepatitis B
hsa05164  Influenza A
hsa04210  Apoptosis
hsa04668  TNF signaling pathway
hsa05142  Chagas disease
hsa05162  Measles
hsa04932  Non-alcoholic fatty liver disease
hsa04650  Natural killer cell mediated cytotoxicity
hsa04217  Necroptosis
hsa01524  Platinum drug resistance
hsa05010  Alzheimer's disease
hsa04115  p53 signaling pathway
hsa05332  Graft-versus-host disease
hsa05320  Autoimmune thyroid disease
hsa05330  Allograft rejection
hsa04940  Type I diabetes mellitus
hsa05143  African trypanosomiasis
PTHR23097:SF114  FAS signaling pathway
PTHR23097:SF114  FAS signaling pathway
PTHR23097:SF114  p53 pathway
PTHR23097:SF114  Apoptosis signaling pathway
PTHR23097:SF114  Apoptosis signaling pathway
PTHR23097:SF114  p53 pathway
PTHR23097:SF114  Apoptosis signaling pathway
PTHR23097:SF114  Apoptosis signaling pathway
PTHR23097:SF114  p53 pathway
PTHR23097:SF114  p53 pathway
PTHR23097:SF114  FAS signaling pathway
PTHR23097:SF114  FAS signaling pathway

Diseases

Associated diseases	References
Abnormal seminal plasma	PMID: 23422491
Adult T-cell leukemia	KEGG: H00009
Alzheimer's disease	PMID: 11436125
Arthritis	PMID: 11824955
Autoimmune lymphoproliferative syndromes	OMIM: 134637
Celiac disease	PMID: 14991945
Chronic lymphocytic leukemia	KEGG: H00005
Crohn's disease	PMID: 15637757
Cryptorchidism	PMID: 12793288
Diabetes	PMID: 16691186
Endometrial cancer	PMID: 12586588
Endometriosis	PMID: 16533339
Endometriosis	PMID: 15806311
Esophageal cancer	KEGG: H00017
Extranodal disease	PMID: 9787134
HELLP syndrome	PMID: 16507928
Hodgkin lymphoma	KEGG: H00007
Idiopathic recurrent pregnancy loss	PMID: 23218678
Idiopathic azoospermia	PMID: 24665877
Male infertility	PMID: 23422491
Multiple sclerosis	PMID: 15218339
Mycosis fungoides	KEGG: H01463
Neuropathy	PMID: 15838728
Obesity	PMID: 16788566
Oligoasthenozoospermia with varicocele	PMID: 18439588
Polycystic ovary syndrome (PCOS)	PMID: 10966981
Preeclampsia	PMID: 15695771
Preterm delivery	PMID: 15672026
Primary biliary cirrhosis	PMID: 15929764
Endometriosis	INFBASE16533339
Ectopic endometriosis	INFBASE9065182
Sjogren's syndrome	PMID: 14672901
Spondyloarthropathies	PMID: 11771526
Squamous cell carcinoma	OMIM: 134637
Systemic lupus erythematosus	PMID: 12064832
Thrombocytopenia	PMID: 16163374
Varicocele	PMID: 23910090

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
16533339	Endometrio sis					CD56 CD95 CD69	Show abstract
9065182	Endometrio sis			38 (29 patients with endometri osis, 9 patient s with uterine myoma)		Bcl-2 Fas	Show abstract