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Gene id

10016

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

Gene Summary

Gene Symbol

PDCD6 Gene UCSC Ensembl

Aliases

ALG-2, ALG2, PEF1B

Gene name

programmed cell death 6

Alternate names

programmed cell death protein 6, apoptosis-linked gene 2 protein, probable calcium-binding protein ALG-2,

Gene location

5p15.33 (271620: 314973) Exons: 7 NC_000005.10

Gene summary(Entrez)

This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]

OMIM

601057

SNPs

rs4957014

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

CM000667.2   g.287899T>G
NC_000005.10   g.287899T>G
NC_000005.9   g.288014T>G
NM_001267556.1   c.163+15127T>G
NM_001267557.1   c.163+15127T>G
NM_001267558.1   c.-48+15127T>G
NM_001267559.1   c.163+15127T>G
NM_013232.3   c.163+15127T>G

Protein Summary

Protein general information

O75340

Name: Programmed cell death protein 6 (Apoptosis linked gene 2 protein homolog) (ALG 2)

Length: 191 Mass: 21,868

Sequence

MAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGTWTPFNPVTVRSIISMFDRE
NKAGVNFSEFTGVWKYITDWQNVFRTYDRDNSGMIDKNELKQALSGFGYRLSDQFHDILIRKFDRQGRGQIAFDD
FIQGCIVLQRLTDIFRRYDTDQDGWIQVSYEQYLSMVFSIV

Structural information

Protein Domains	EF-hand (23-58) EF-hand (59-89) EF-hand (90-125) EF-hand (126-161)
Interpro:	IPR011992 IPR018247 IPR002048
Prosite:	PS00018 PS50222
Pfam:	PF13202 PF13499
CDD:	cd00051
PDB:	2ZN8 2ZN9 2ZND 2ZNE 2ZRS 2ZRT 3AAJ 3AAK 3WXA 5GQQ
PDBsum:	2ZN8 2ZN9 2ZND 2ZNE 2ZRS 2ZRT 3AAJ 3AAK 3WXA 5GQQ
DIP:	33217
MINT:	5000341
STRING:	ENSP00000264933;

Other Databases

GeneCards: PDCD6; Malacards: PDCD6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001525	angiogenesis	IEA	biological_process
GO:0001938	positive regulation of en dothelial cell proliferat ion	IDA	biological_process
GO:0004198	calcium-dependent cystein e-type endopeptidase acti vity	IBA	molecular_function
GO:0005509	calcium ion binding	ISS	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	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005768	endosome	IEA	cellular_component
GO:0005783	endoplasmic reticulum	IDA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	IEA	cellular_component
GO:0006886	intracellular protein tra nsport	IDA	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IEA	biological_process
GO:0010595	positive regulation of en dothelial cell migration	IDA	biological_process
GO:0030948	negative regulation of va scular endothelial growth factor receptor signalin g pathway	IDA	biological_process
GO:0031410	cytoplasmic vesicle	IDA	cellular_component
GO:0031965	nuclear membrane	IEA	cellular_component
GO:0032007	negative regulation of TO R signaling	IDA	biological_process
GO:0034605	cellular response to heat	IDA	biological_process
GO:0036324	vascular endothelial grow th factor receptor-2 sign aling pathway	IDA	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:0042803	protein homodimerization activity	IEA	molecular_function
GO:0043280	positive regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IDA	biological_process
GO:0043495	protein anchor	IMP	molecular_function
GO:0045766	positive regulation of an giogenesis	IDA	biological_process
GO:0046983	protein dimerization acti vity	IPI	molecular_function
GO:0048306	calcium-dependent protein binding	IPI	molecular_function
GO:0048306	calcium-dependent protein binding	IPI	molecular_function
GO:0048306	calcium-dependent protein binding	IPI	molecular_function
GO:0048306	calcium-dependent protein binding	IPI	molecular_function
GO:0048306	calcium-dependent protein binding	IPI	molecular_function
GO:0051592	response to calcium ion	ISS	biological_process
GO:0051898	negative regulation of pr otein kinase B signaling	IDA	biological_process
GO:0060090	binding, bridging	IMP	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070971	endoplasmic reticulum exi t site	IMP	cellular_component
GO:0097190	apoptotic signaling pathw ay	TAS	biological_process
GO:0001525	angiogenesis	IEA	biological_process
GO:0001938	positive regulation of en dothelial cell proliferat ion	IDA	biological_process
GO:0004198	calcium-dependent cystein e-type endopeptidase acti vity	IBA	molecular_function
GO:0005509	calcium ion binding	IEA	molecular_function
GO:0005509	calcium ion binding	IEA	molecular_function
GO:0005509	calcium ion binding	ISS	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	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005768	endosome	IEA	cellular_component
GO:0005768	endosome	IEA	cellular_component
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005783	endoplasmic reticulum	IDA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	IEA	cellular_component
GO:0006886	intracellular protein tra nsport	IDA	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IEA	biological_process
GO:0010595	positive regulation of en dothelial cell migration	IDA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0030948	negative regulation of va scular endothelial growth factor receptor signalin g pathway	IDA	biological_process
GO:0031410	cytoplasmic vesicle	IDA	cellular_component
GO:0031965	nuclear membrane	IEA	cellular_component
GO:0032007	negative regulation of TO R signaling	IDA	biological_process
GO:0034605	cellular response to heat	IDA	biological_process
GO:0036324	vascular endothelial grow th factor receptor-2 sign aling pathway	IDA	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:0042803	protein homodimerization activity	IEA	molecular_function
GO:0043280	positive regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IDA	biological_process
GO:0043495	protein anchor	IMP	molecular_function
GO:0045766	positive regulation of an giogenesis	IDA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046983	protein dimerization acti vity	IEA	molecular_function
GO:0046983	protein dimerization acti vity	IPI	molecular_function
GO:0048306	calcium-dependent protein binding	IEA	molecular_function
GO:0048306	calcium-dependent protein binding	IPI	molecular_function
GO:0048306	calcium-dependent protein binding	IPI	molecular_function
GO:0048306	calcium-dependent protein binding	IPI	molecular_function
GO:0048306	calcium-dependent protein binding	IPI	molecular_function
GO:0048306	calcium-dependent protein binding	IPI	molecular_function
GO:0051592	response to calcium ion	IEA	biological_process
GO:0051592	response to calcium ion	ISS	biological_process
GO:0051898	negative regulation of pr otein kinase B signaling	IDA	biological_process
GO:0060090	binding, bridging	IMP	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070971	endoplasmic reticulum exi t site	IMP	cellular_component
GO:0097190	apoptotic signaling pathw ay	TAS	biological_process
GO:0001938	positive regulation of en dothelial cell proliferat ion	IDA	biological_process
GO:0004198	calcium-dependent cystein e-type endopeptidase acti vity	IBA	molecular_function
GO:0005509	calcium ion binding	ISS	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	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005783	endoplasmic reticulum	IDA	cellular_component
GO:0006886	intracellular protein tra nsport	IDA	biological_process
GO:0010595	positive regulation of en dothelial cell migration	IDA	biological_process
GO:0030948	negative regulation of va scular endothelial growth factor receptor signalin g pathway	IDA	biological_process
GO:0031410	cytoplasmic vesicle	IDA	cellular_component
GO:0032007	negative regulation of TO R signaling	IDA	biological_process
GO:0034605	cellular response to heat	IDA	biological_process
GO:0036324	vascular endothelial grow th factor receptor-2 sign aling pathway	IDA	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:0043280	positive regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IDA	biological_process
GO:0043495	protein anchor	IMP	molecular_function
GO:0045766	positive regulation of an giogenesis	IDA	biological_process
GO:0046983	protein dimerization acti vity	IPI	molecular_function
GO:0048306	calcium-dependent protein binding	IPI	molecular_function
GO:0048306	calcium-dependent protein binding	IPI	molecular_function
GO:0048306	calcium-dependent protein binding	IPI	molecular_function
GO:0048306	calcium-dependent protein binding	IPI	molecular_function
GO:0048306	calcium-dependent protein binding	IPI	molecular_function
GO:0051592	response to calcium ion	ISS	biological_process
GO:0051898	negative regulation of pr otein kinase B signaling	IDA	biological_process
GO:0060090	binding, bridging	IMP	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070971	endoplasmic reticulum exi t site	IMP	cellular_component
GO:0097190	apoptotic signaling pathw ay	TAS	biological_process

Diseases

Associated diseases	References
Endometriosis	PMID: 23137875
Endometriosis	INFBASE23137875

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
23137875	Endometrio sis	PDCD6 gene (rs4957014 and rs3756712)		606 (220 endome triosis patient s, 386 unrelate d healthy contr ols)		PDCD6	Show abstract