Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3623
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol INHA   Gene   UCSC   Ensembl
Gene name inhibin alpha subunit
Alternate names inhibin alpha chain, A-inhibin subunit,
Gene location 2q35 (219572231: 219575712)     Exons: 2     NC_000002.12
Gene summary(Entrez) This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate multiple peptide products, including the alpha subunit of the inhibin A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. Mutations in this gene may be associated with male infertility and premature ovarian failure in female human patients. [provided by RefSeq, Aug 2016]
OMIM 147380

Protein Summary
Protein general information P05111  

Name: Inhibin alpha chain

Length: 366  Mass: 39,670

Tissue specificity: Originally found in ovary (granulosa cells) and testis (Sertoli cells), but widely distributed in many tissues including brain and placenta. In adrenal cortex expression is limited to the zona reticularis and the innermost zona fascicu

Sequence MVLHLLLFLLLTPQGGHSCQGLELARELVLAKVRALFLDALGPPAVTREGGDPGVRRLPRRHALGGFTHRGSEPE
EEEDVSQAILFPATDASCEDKSAARGLAQEAEEGLFRYMFRPSQHTRSRQVTSAQLWFHTGLDRQGTAASNSSEP
LLGLLALSPGGPVAVPMSLGHAPPHWAVLHLATSALSLLTHPVLVLLLRCPLCTCSARPEATPFLVAHTRTRPPS
GGERARRSTPLMSWPWSPSALRLLQRPPEEPAAHANCHRVALNISFQELGWERWIVYPPSFIFHYCHGGCGLHIP
PNLSLPVPGAPPTPAQPYSLLPGAQPCCAALPGTMRPLHVRTTSDGGYSFKYETVPNLLTQHCACI
Structural information
Interpro:  IPR029034 IPR017175 IPR001839 IPR015615 IPR017948
Prosite:   PS00250 PS51362

Pfam:  		 PF00019

DIP:  		 5826
STRING:   ENSP00000243786;
Other Databases GeneCards:  INHA;  Malacards:  INHA

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001501 skeletal system developme
nt
 TAS biological_process
GO:0001541 ovarian follicle developm
ent
 NAS biological_process
GO:0001750 photoreceptor outer segme
nt
 IEA cellular_component
GO:0001917 photoreceptor inner segme
nt
 IEA cellular_component
GO:0005102 receptor binding
 IPI molecular_function
GO:0005125 cytokine activity
 TAS molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
 IBA molecular_function
GO:0005179 hormone activity
 TAS 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:0005737 cytoplasm
 IEA cellular_component
GO:0007050 cell cycle arrest
 TAS biological_process
GO:0007165 signal transduction
 TAS biological_process
GO:0007166 cell surface receptor sig
naling pathway
 TAS biological_process
GO:0007267 cell-cell signaling
 TAS biological_process
GO:0007399 nervous system developmen
t
 NAS biological_process
GO:0008083 growth factor activity
 TAS molecular_function
GO:0008584 male gonad development
 IEA biological_process
GO:0009605 response to external stim
ulus
 TAS biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
 IBA biological_process
GO:0030154 cell differentiation
 TAS biological_process
GO:0030218 erythrocyte differentiati
on
 NAS biological_process
GO:0034673 inhibin-betaglycan-ActRII
complex
 IDA cellular_component
GO:0034711 inhibin binding
 IEA molecular_function
GO:0042127 regulation of cell prolif
eration
 IDA biological_process
GO:0042326 negative regulation of ph
osphorylation
 TAS biological_process
GO:0042541 hemoglobin biosynthetic p
rocess
 IDA biological_process
GO:0042981 regulation of apoptotic p
rocess
 IBA biological_process
GO:0043025 neuronal cell body
 IEA cellular_component
GO:0043408 regulation of MAPK cascad
e
 IBA biological_process
GO:0043512 inhibin A complex
 IDA cellular_component
GO:0043513 inhibin B complex
 IEA cellular_component
GO:0045077 negative regulation of in
terferon-gamma biosynthet
ic process
 TAS biological_process
GO:0045578 negative regulation of B
cell differentiation
 TAS biological_process
GO:0045650 negative regulation of ma
crophage differentiation
 TAS biological_process
GO:0045786 negative regulation of ce
ll cycle
 TAS biological_process
GO:0046881 positive regulation of fo
llicle-stimulating hormon
e secretion
 TAS biological_process
GO:0046882 negative regulation of fo
llicle-stimulating hormon
e secretion
 NAS biological_process
GO:0046982 protein heterodimerizatio
n activity
 IEA molecular_function
GO:0048468 cell development
 IBA biological_process
GO:0051726 regulation of cell cycle
 IDA biological_process
GO:0060395 SMAD protein signal trans
duction
 IBA biological_process
GO:0005515 protein binding
 IPI molecular_function
GO:0001501 skeletal system developme
nt
 TAS biological_process
GO:0001541 ovarian follicle developm
ent
 IEA biological_process
GO:0001541 ovarian follicle developm
ent
 NAS biological_process
GO:0001750 photoreceptor outer segme
nt
 IEA cellular_component
GO:0001917 photoreceptor inner segme
nt
 IEA cellular_component
GO:0005102 receptor binding
 IPI molecular_function
GO:0005125 cytokine activity
 TAS molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
 IBA molecular_function
GO:0005179 hormone activity
 IEA molecular_function
GO:0005179 hormone activity
 TAS molecular_function
GO:0005179 hormone activity
 TAS 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:0005615 extracellular space
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0007050 cell cycle arrest
 TAS biological_process
GO:0007165 signal transduction
 TAS biological_process
GO:0007166 cell surface receptor sig
naling pathway
 TAS biological_process
GO:0007166 cell surface receptor sig
naling pathway
 TAS biological_process
GO:0007267 cell-cell signaling
 TAS biological_process
GO:0007267 cell-cell signaling
 TAS biological_process
GO:0007399 nervous system developmen
t
 NAS biological_process
GO:0008083 growth factor activity
 IEA molecular_function
GO:0008083 growth factor activity
 IEA molecular_function
GO:0008083 growth factor activity
 TAS molecular_function
GO:0008584 male gonad development
 IEA biological_process
GO:0009605 response to external stim
ulus
 TAS biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
 IBA biological_process
GO:0030154 cell differentiation
 TAS biological_process
GO:0030218 erythrocyte differentiati
on
 NAS biological_process
GO:0034673 inhibin-betaglycan-ActRII
complex
 IDA cellular_component
GO:0034711 inhibin binding
 IEA molecular_function
GO:0042127 regulation of cell prolif
eration
 IDA biological_process
GO:0042326 negative regulation of ph
osphorylation
 TAS biological_process
GO:0042541 hemoglobin biosynthetic p
rocess
 IDA biological_process
GO:0042981 regulation of apoptotic p
rocess
 IBA biological_process
GO:0043025 neuronal cell body
 IEA cellular_component
GO:0043408 regulation of MAPK cascad
e
 IBA biological_process
GO:0043512 inhibin A complex
 IEA cellular_component
GO:0043512 inhibin A complex
 IDA cellular_component
GO:0043513 inhibin B complex
 IEA cellular_component
GO:0045077 negative regulation of in
terferon-gamma biosynthet
ic process
 TAS biological_process
GO:0045578 negative regulation of B
cell differentiation
 TAS biological_process
GO:0045650 negative regulation of ma
crophage differentiation
 TAS biological_process
GO:0045786 negative regulation of ce
ll cycle
 TAS biological_process
GO:0046881 positive regulation of fo
llicle-stimulating hormon
e secretion
 TAS biological_process
GO:0046882 negative regulation of fo
llicle-stimulating hormon
e secretion
 IEA biological_process
GO:0046882 negative regulation of fo
llicle-stimulating hormon
e secretion
 NAS biological_process
GO:0046982 protein heterodimerizatio
n activity
 IEA molecular_function
GO:0048468 cell development
 IBA biological_process
GO:0051726 regulation of cell cycle
 IDA biological_process
GO:0060395 SMAD protein signal trans
duction
 IBA biological_process
GO:0005515 protein binding
 IPI molecular_function
GO:0001501 skeletal system developme
nt
 TAS biological_process
GO:0001541 ovarian follicle developm
ent
 NAS biological_process
GO:0005102 receptor binding
 IPI molecular_function
GO:0005125 cytokine activity
 TAS molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
 IBA molecular_function
GO:0005179 hormone activity
 TAS molecular_function
GO:0005179 hormone activity
 TAS 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:0007050 cell cycle arrest
 TAS biological_process
GO:0007165 signal transduction
 TAS biological_process
GO:0007166 cell surface receptor sig
naling pathway
 TAS biological_process
GO:0007166 cell surface receptor sig
naling pathway
 TAS biological_process
GO:0007267 cell-cell signaling
 TAS biological_process
GO:0007267 cell-cell signaling
 TAS biological_process
GO:0007399 nervous system developmen
t
 NAS biological_process
GO:0008083 growth factor activity
 TAS molecular_function
GO:0009605 response to external stim
ulus
 TAS biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
 IBA biological_process
GO:0030154 cell differentiation
 TAS biological_process
GO:0030218 erythrocyte differentiati
on
 NAS biological_process
GO:0034673 inhibin-betaglycan-ActRII
complex
 IDA cellular_component
GO:0042127 regulation of cell prolif
eration
 IDA biological_process
GO:0042326 negative regulation of ph
osphorylation
 TAS biological_process
GO:0042541 hemoglobin biosynthetic p
rocess
 IDA biological_process
GO:0042981 regulation of apoptotic p
rocess
 IBA biological_process
GO:0043408 regulation of MAPK cascad
e
 IBA biological_process
GO:0043512 inhibin A complex
 IDA cellular_component
GO:0045077 negative regulation of in
terferon-gamma biosynthet
ic process
 TAS biological_process
GO:0045578 negative regulation of B
cell differentiation
 TAS biological_process
GO:0045650 negative regulation of ma
crophage differentiation
 TAS biological_process
GO:0045786 negative regulation of ce
ll cycle
 TAS biological_process
GO:0046881 positive regulation of fo
llicle-stimulating hormon
e secretion
 TAS biological_process
GO:0046882 negative regulation of fo
llicle-stimulating hormon
e secretion
 NAS biological_process
GO:0048468 cell development
 IBA biological_process
GO:0051726 regulation of cell cycle
 IDA biological_process
GO:0060395 SMAD protein signal trans
duction
 IBA biological_process
GO:0005515 protein binding
 IPI molecular_function

Diseases

Associated diseases References
Endometriosis PMID: 9806293
Hypergonadotropic hypogonadism PMID: 9806574
Klinefelter syndrome PMID: 26405262
Non-normozoospermia PMID: 25617520
Ovarian endometriosis PMID: 11172841
Ovarian endometriosis PMID: 17296189
Ovarian hyperstimulation syndrome(OHSS) PMID: 24455972
Polycystic ovary syndrome (PCOS) PMID: 16019381
Deep infiltrating endometriosis INFBASE22416010
Implantation defects INFBASE20457668
Ovarian endometriosis INFBASE17296189
Ovarian endometriosis INFBASE11172841
Unexplained infertility INFBASE10735596
Tubal damage INFBASE10735596
Endometriosis associated infertility INFBASE9806293
Endometriosis INFBASE9806293
Preeclampsia PMID: 19842088
Premature ovarian failure ( POF) PMID: 12093833
Premature ovarian failure ( POF) PMID: 15227735, KEGG: H00627, PMID: 16161415
Primary ovarian insufficiency (POI) PMID: 24269065
Tubal factor infertility PMID: 10735596

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21640344 Endometrio
sis

Activin-A
 Show abstract
16638039 Endometrio
sis

activin-A
 Show abstract
9806293 Endometrio
sis
72 (35 control
women, 37 women
with endometri
osis)
 Female infertility INHA
 Show abstract
10735596 Endometrio
sis

Female infertility INHA
INHB
activin A
 Show abstract
11172841 Endometrio
sis (ovari
an)
19 women with o
varian endometr
iotic cysts
 inhibin A
activin A
 Show abstract
22416010 Endometrio
sis
214 (139 women
with endometrio
sis (28 periton
eal endometrios
is, 61 ovarian
endometrioma, 5
0 deep infiltra
ting endometrio
sis), 75 contro
ls)
 Activin A
follistatin
 Show abstract
20001709 Endometrio
sis

activin A
Smad7
NGF-beta
Show abstract
20457668 Endometrio
sis
37 (14 controls
, 23 EOS)
 Female infertility
Show abstract
17296189 Endometrio
sis (ovari
an)
34 (16 ovarian
endometriotic c
ysts, 18 contro
ls)
 FLRG
 Show abstract