Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3592
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol IL12A   Gene   UCSC   Ensembl
Aliases CLMF, IL-12A, NFSK, NKSF1, P35
Gene name interleukin 12A
Alternate names interleukin-12 subunit alpha, CLMF p35, IL-12, subunit p35, IL35 subunit, NF cell stimulatory factor chain 1, NK cell stimulatory factor chain 1, cytotoxic lymphocyte maturation factor 1, p35, cytotoxic lymphocyte maturation factor 35 kDa subunit, interleukin 12,,
Gene location 3q25.33 (159988835: 159996018)     Exons: 7     NC_000003.12
Gene summary(Entrez) This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq, Jul 2008]
OMIM 161560

Protein Summary

Protein general information P29459  

Name: Interleukin 12 subunit alpha (IL 12A) (Cytotoxic lymphocyte maturation factor 35 kDa subunit) (CLMF p35) (IL 12 subunit p35) (NK cell stimulatory factor chain 1) (NKSF1)

Length: 219  Mass: 24,874

Sequence MCPARSLLLVATLVLLDHLSLARNLPVATPDPGMFPCLHHSQNLLRAVSNMLQKARQTLEFYPCTSEEIDHEDIT
KDKTSTVEACLPLELTKNESCLNSRETSFITNGSCLASRKTSFMMALCLSSIYEDLKMYQVEFKTMNAKLLMDPK
RQIFLDQNMLAVIDELMQALNFNSETVPQKSSLEEPDFYKTKIKLCILLHAFRIRAVTIDRVMSYLNAS
Structural information
Interpro:  IPR009079 IPR004281

Pfam:  
PF03039

PDB:  
1F45 3HMX
PDBsum:   1F45 3HMX

DIP:  
3772
STRING:   ENSP00000303231;
Other Databases GeneCards:  IL12A;  Malacards:  IL12A

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001916 positive regulation of T
cell mediated cytotoxicit
y
IDA biological_process
GO:0001916 positive regulation of T
cell mediated cytotoxicit
y
IDA biological_process
GO:0002860 positive regulation of na
tural killer cell mediate
d cytotoxicity directed a
gainst tumor cell target
IDA biological_process
GO:0005143 interleukin-12 receptor b
inding
IBA molecular_function
GO:0005143 interleukin-12 receptor b
inding
NAS 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
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0006955 immune response
TAS biological_process
GO:0007050 cell cycle arrest
IDA biological_process
GO:0009615 response to virus
IEP biological_process
GO:0010224 response to UV-B
IDA biological_process
GO:0016477 cell migration
IDA biological_process
GO:0032496 response to lipopolysacch
aride
IDA biological_process
GO:0032496 response to lipopolysacch
aride
IDA biological_process
GO:0032700 negative regulation of in
terleukin-17 production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032816 positive regulation of na
tural killer cell activat
ion
IDA biological_process
GO:0032946 positive regulation of mo
nonuclear cell proliferat
ion
IMP biological_process
GO:0034393 positive regulation of sm
ooth muscle cell apoptoti
c process
IDA biological_process
GO:0042102 positive regulation of T
cell proliferation
IBA biological_process
GO:0042163 interleukin-12 beta subun
it binding
IPI molecular_function
GO:0042520 positive regulation of ty
rosine phosphorylation of
Stat4 protein
IDA biological_process
GO:0042832 defense response to proto
zoan
IEA biological_process
GO:0043514 interleukin-12 complex
IDA cellular_component
GO:0043514 interleukin-12 complex
IDA cellular_component
GO:0043514 interleukin-12 complex
NAS cellular_component
GO:0043514 interleukin-12 complex
NAS cellular_component
GO:0043514 interleukin-12 complex
IDA cellular_component
GO:0045513 interleukin-27 binding
IPI molecular_function
GO:0045582 positive regulation of T
cell differentiation
IEA biological_process
GO:0045785 positive regulation of ce
ll adhesion
IDA biological_process
GO:0045954 positive regulation of na
tural killer cell mediate
d cytotoxicity
IDA biological_process
GO:0046982 protein heterodimerizatio
n activity
IPI molecular_function
GO:0046982 protein heterodimerizatio
n activity
IPI molecular_function
GO:0048662 negative regulation of sm
ooth muscle cell prolifer
ation
IDA biological_process
GO:0050671 positive regulation of ly
mphocyte proliferation
IDA biological_process
GO:0050671 positive regulation of ly
mphocyte proliferation
IDA biological_process
GO:0050830 defense response to Gram-
positive bacterium
IEP biological_process
GO:0051135 positive regulation of NK
T cell activation
IDA biological_process
GO:0071222 cellular response to lipo
polysaccharide
IEA biological_process
GO:0097191 extrinsic apoptotic signa
ling pathway
IDA biological_process
GO:0098586 cellular response to viru
s
IMP biological_process
GO:2000510 positive regulation of de
ndritic cell chemotaxis
IMP biological_process
GO:0005125 cytokine activity
TAS molecular_function
GO:0005125 cytokine activity
IDA molecular_function
GO:0008083 growth factor activity
NAS molecular_function
GO:0008083 growth factor activity
IDA molecular_function
GO:0001916 positive regulation of T
cell mediated cytotoxicit
y
IDA biological_process
GO:0001916 positive regulation of T
cell mediated cytotoxicit
y
IDA biological_process
GO:0002860 positive regulation of na
tural killer cell mediate
d cytotoxicity directed a
gainst tumor cell target
IDA biological_process
GO:0005125 cytokine activity
IEA molecular_function
GO:0005125 cytokine activity
IEA molecular_function
GO:0005143 interleukin-12 receptor b
inding
IEA molecular_function
GO:0005143 interleukin-12 receptor b
inding
IBA molecular_function
GO:0005143 interleukin-12 receptor b
inding
NAS 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:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0006955 immune response
IEA biological_process
GO:0006955 immune response
TAS biological_process
GO:0007050 cell cycle arrest
IDA biological_process
GO:0008083 growth factor activity
IEA molecular_function
GO:0008083 growth factor activity
IEA molecular_function
GO:0009615 response to virus
IEP biological_process
GO:0010224 response to UV-B
IDA biological_process
GO:0016477 cell migration
IDA biological_process
GO:0032496 response to lipopolysacch
aride
IDA biological_process
GO:0032496 response to lipopolysacch
aride
IDA biological_process
GO:0032700 negative regulation of in
terleukin-17 production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IEA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032816 positive regulation of na
tural killer cell activat
ion
IDA biological_process
GO:0032946 positive regulation of mo
nonuclear cell proliferat
ion
IMP biological_process
GO:0034393 positive regulation of sm
ooth muscle cell apoptoti
c process
IDA biological_process
GO:0042102 positive regulation of T
cell proliferation
IEA biological_process
GO:0042102 positive regulation of T
cell proliferation
IBA biological_process
GO:0042163 interleukin-12 beta subun
it binding
IEA molecular_function
GO:0042163 interleukin-12 beta subun
it binding
IPI molecular_function
GO:0042520 positive regulation of ty
rosine phosphorylation of
Stat4 protein
IDA biological_process
GO:0042832 defense response to proto
zoan
IEA biological_process
GO:0043514 interleukin-12 complex
IEA cellular_component
GO:0043514 interleukin-12 complex
IDA cellular_component
GO:0043514 interleukin-12 complex
IDA cellular_component
GO:0043514 interleukin-12 complex
NAS cellular_component
GO:0043514 interleukin-12 complex
NAS cellular_component
GO:0043514 interleukin-12 complex
IDA cellular_component
GO:0045513 interleukin-27 binding
IPI molecular_function
GO:0045582 positive regulation of T
cell differentiation
IEA biological_process
GO:0045785 positive regulation of ce
ll adhesion
IDA biological_process
GO:0045954 positive regulation of na
tural killer cell mediate
d cytotoxicity
IDA biological_process
GO:0046982 protein heterodimerizatio
n activity
IPI molecular_function
GO:0046982 protein heterodimerizatio
n activity
IPI molecular_function
GO:0048662 negative regulation of sm
ooth muscle cell prolifer
ation
IDA biological_process
GO:0050671 positive regulation of ly
mphocyte proliferation
IDA biological_process
GO:0050671 positive regulation of ly
mphocyte proliferation
IDA biological_process
GO:0050830 defense response to Gram-
positive bacterium
IEP biological_process
GO:0051135 positive regulation of NK
T cell activation
IDA biological_process
GO:0071222 cellular response to lipo
polysaccharide
IEA biological_process
GO:0097191 extrinsic apoptotic signa
ling pathway
IDA biological_process
GO:0098586 cellular response to viru
s
IMP biological_process
GO:2000510 positive regulation of de
ndritic cell chemotaxis
IMP biological_process
GO:0005125 cytokine activity
TAS molecular_function
GO:0005125 cytokine activity
IDA molecular_function
GO:0008083 growth factor activity
NAS molecular_function
GO:0008083 growth factor activity
IDA molecular_function
GO:0001916 positive regulation of T
cell mediated cytotoxicit
y
IDA biological_process
GO:0001916 positive regulation of T
cell mediated cytotoxicit
y
IDA biological_process
GO:0002860 positive regulation of na
tural killer cell mediate
d cytotoxicity directed a
gainst tumor cell target
IDA biological_process
GO:0005143 interleukin-12 receptor b
inding
IBA molecular_function
GO:0005143 interleukin-12 receptor b
inding
NAS 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
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0006955 immune response
TAS biological_process
GO:0007050 cell cycle arrest
IDA biological_process
GO:0009615 response to virus
IEP biological_process
GO:0010224 response to UV-B
IDA biological_process
GO:0016477 cell migration
IDA biological_process
GO:0032496 response to lipopolysacch
aride
IDA biological_process
GO:0032496 response to lipopolysacch
aride
IDA biological_process
GO:0032700 negative regulation of in
terleukin-17 production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032816 positive regulation of na
tural killer cell activat
ion
IDA biological_process
GO:0032946 positive regulation of mo
nonuclear cell proliferat
ion
IMP biological_process
GO:0034393 positive regulation of sm
ooth muscle cell apoptoti
c process
IDA biological_process
GO:0042102 positive regulation of T
cell proliferation
IBA biological_process
GO:0042163 interleukin-12 beta subun
it binding
IPI molecular_function
GO:0042520 positive regulation of ty
rosine phosphorylation of
Stat4 protein
IDA biological_process
GO:0043514 interleukin-12 complex
IDA cellular_component
GO:0043514 interleukin-12 complex
IDA cellular_component
GO:0043514 interleukin-12 complex
NAS cellular_component
GO:0043514 interleukin-12 complex
NAS cellular_component
GO:0043514 interleukin-12 complex
IDA cellular_component
GO:0045513 interleukin-27 binding
IPI molecular_function
GO:0045785 positive regulation of ce
ll adhesion
IDA biological_process
GO:0045954 positive regulation of na
tural killer cell mediate
d cytotoxicity
IDA biological_process
GO:0046982 protein heterodimerizatio
n activity
IPI molecular_function
GO:0046982 protein heterodimerizatio
n activity
IPI molecular_function
GO:0048662 negative regulation of sm
ooth muscle cell prolifer
ation
IDA biological_process
GO:0050671 positive regulation of ly
mphocyte proliferation
IDA biological_process
GO:0050671 positive regulation of ly
mphocyte proliferation
IDA biological_process
GO:0050830 defense response to Gram-
positive bacterium
IEP biological_process
GO:0051135 positive regulation of NK
T cell activation
IDA biological_process
GO:0097191 extrinsic apoptotic signa
ling pathway
IDA biological_process
GO:0098586 cellular response to viru
s
IMP biological_process
GO:2000510 positive regulation of de
ndritic cell chemotaxis
IMP biological_process
GO:0005125 cytokine activity
TAS molecular_function
GO:0005125 cytokine activity
IDA molecular_function
GO:0008083 growth factor activity
NAS molecular_function
GO:0008083 growth factor activity
IDA molecular_function

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa05152  Tuberculosis
hsa05168  Herpes simplex infection
hsa05164  Influenza A
hsa04630  Jak-STAT signaling pathway
hsa05145  Toxoplasmosis
hsa05142  Chagas disease
hsa05162  Measles
hsa05321  Inflammatory bowel disease
hsa04620  Toll-like receptor signaling pathway
hsa05146  Amoebiasis
hsa04658  Th1 and Th2 cell differentiation
hsa05140  Leishmaniasis
hsa05133  Pertussis
hsa05134  Legionellosis
hsa05144  Malaria
hsa05330  Allograft rejection
hsa04940  Type I diabetes mellitus
hsa05143  African trypanosomiasis
hsa04622  RIG-I-like receptor signaling pathway

Diseases

Associated diseases References
Aphthous stomatitis PMID: 14629328
Arthritis PMID: 11981324
Asthma PMID: 14962816
Atopic dermatitis PMID: 20060272
Biliary primary cirrhosis PMID: 19458352
Cancer PMID: 14675394
Celiac disease PMID: 18805825
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Common variable immunodeficiency PMID: 19339796
Diabetes PMID: 19073967
Endometriosis PMID: 18295214
Graves ophthalmopathy PMID: 19798110
Immune infertility PMID: 9639047
Implantation failure PMID: 14711545
Juvenile arthritis PMID: 15170937
Leukocytospermia PMID: 9730437
Male infertility PMID: 11476770
Multiple sclerosis PMID: 16803996
Myasthenia gravis PMID: 17509455
Osteoarthritis PMID: 12421093
Ovarian hyperstimulation syndrome(OHSS) PMID: 26823856
Pemphigus PMID: 19470040
Polycystic ovary syndrome (PCOS) PMID: 12798884
Endometriosis INFBASE9436700
Preeclampsia PMID: 23082474
Psoriasis PMID: 17236132
Recurrent miscarriage PMID: 26368793
Unexplained infertility PMID: 25032981

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
18295214 Endometrio
sis

105 (72 endomet
riosis patients
, 33 controls)
Female infertility IL-12
IL-18
Show abstract
15255283 Endometrio
sis

80 women while
they were under
going laparosco
py for pain,inf
ertility, tubal
ligation or re
-anastomosis
IL-12
IL-13
Show abstract
9506747 Endometrio
sis

73 (33 patients
with endometri
osis, 40 women
without laparos
copic evidence
of the disease)
IL-12
p40
Show abstract
9436700 Endometrio
sis


IL-10
IL-5
IL-12
Show abstract