Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 3624
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol INHBA   Gene   UCSC   Ensembl
Aliases EDF, FRP
Gene name inhibin beta A subunit
Alternate names inhibin beta A chain, FSH-releasing protein, Inhibin, beta-1, activin beta-A chain, erythroid differentiation factor, erythroid differentiation protein, follicle-stimulating hormone-releasing protein, inhibin, beta A (activin A, activin AB alpha polypeptide),
Gene location 7p14.1 (41710531: 41685100)     Exons: 7     NC_000007.14
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 a subunit of the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. The encoded protein also plays a role in eye, tooth and testis development. Elevated expression of this gene may be associated with cancer cachexia in human patients. [provided by RefSeq, Aug 2016]
OMIM 147290

Protein Summary

Protein general information P08476  

Name: Inhibin beta A chain (Activin beta A chain) (Erythroid differentiation protein) (EDF)

Length: 426  Mass: 47,442

Sequence MPLLWLRGFLLASCWIIVRSSPTPGSEGHSAAPDCPSCALAALPKDVPNSQPEMVEAVKKHILNMLHLKKRPDVT
QPVPKAALLNAIRKLHVGKVGENGYVEIEDDIGRRAEMNELMEQTSEIITFAESGTARKTLHFEISKEGSDLSVV
ERAEVWLFLKVPKANRTRTKVTIRLFQQQKHPQGSLDTGEEAEEVGLKGERSELLLSEKVVDARKSTWHVFPVSS
SIQRLLDQGKSSLDVRIACEQCQESGASLVLLGKKKKKEEEGEGKKKGGGEGGAGADEEKEQSHRPFLMLQARQS
EDHPHRRRRRGLECDGKVNICCKKQFFVSFKDIGWNDWIIAPSGYHANYCEGECPSHIAGTSGSSLSFHSTVINH
YRMRGHSPFANLKSCCVPTKLRPMSMLYYDDGQNIIKKDIQNMIVEECGCS
Structural information
Interpro:  IPR029034 IPR000491 IPR001839 IPR001111 IPR015615 IPR017948
Prosite:   PS00250 PS51362

Pfam:  
PF00019 PF00688

PDB:  
1NYS 1NYU 1S4Y 2ARP 2ARV 2B0U 2P6A 3B4V 4MID 5HLY 5HLZ
PDBsum:   1NYS 1NYU 1S4Y 2ARP 2ARV 2B0U 2P6A 3B4V 4MID 5HLY 5HLZ

DIP:  
5824
MINT:   1786936
STRING:   ENSP00000242208;
Other Databases GeneCards:  INHBA;  Malacards:  INHBA

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000082 G1/S transition of mitoti
c cell cycle
IDA biological_process
GO:0001541 ovarian follicle developm
ent
IGI biological_process
GO:0001541 ovarian follicle developm
ent
NAS biological_process
GO:0001942 hair follicle development
IGI biological_process
GO:0002244 hematopoietic progenitor
cell differentiation
IDA biological_process
GO:0005125 cytokine activity
IDA 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:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IDA 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:0005576 extracellular region
TAS cellular_component
GO:0006357 regulation of transcripti
on from RNA polymerase II
promoter
IDA biological_process
GO:0006952 defense response
TAS biological_process
GO:0007050 cell cycle arrest
IDA 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:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008584 male gonad development
IGI biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IDA biological_process
GO:0017046 peptide hormone binding
IPI molecular_function
GO:0021773 striatal medium spiny neu
ron differentiation
IDA biological_process
GO:0030154 cell differentiation
TAS biological_process
GO:0030218 erythrocyte differentiati
on
NAS biological_process
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0032270 positive regulation of ce
llular protein metabolic
process
IDA biological_process
GO:0032924 activin receptor signalin
g pathway
IDA biological_process
GO:0034711 inhibin binding
IEA molecular_function
GO:0035987 endodermal cell different
iation
IDA biological_process
GO:0040007 growth
IEA biological_process
GO:0042326 negative regulation of ph
osphorylation
TAS biological_process
GO:0042476 odontogenesis
IGI biological_process
GO:0042493 response to drug
IDA biological_process
GO:0042541 hemoglobin biosynthetic p
rocess
IDA biological_process
GO:0042701 progesterone secretion
IGI biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0043408 regulation of MAPK cascad
e
IBA biological_process
GO:0043509 activin A complex
IDA cellular_component
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:0045648 positive regulation of er
ythrocyte differentiation
IDA biological_process
GO:0045650 negative regulation of ma
crophage differentiation
TAS biological_process
GO:0045786 negative regulation of ce
ll cycle
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046880 regulation of follicle-st
imulating hormone secreti
on
IGI 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:0048333 mesodermal cell different
iation
IEA biological_process
GO:0048468 cell development
IBA biological_process
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0060021 palate development
IGI biological_process
GO:0060279 positive regulation of ov
ulation
ISS biological_process
GO:0060395 SMAD protein signal trans
duction
IBA biological_process
GO:0061029 eyelid development in cam
era-type eye
ISS biological_process
GO:0070699 type II activin receptor
binding
IPI molecular_function
GO:0071372 cellular response to foll
icle-stimulating hormone
stimulus
IEA biological_process
GO:0071397 cellular response to chol
esterol
IEA biological_process
GO:0097154 GABAergic neuron differen
tiation
IDA biological_process
GO:0097191 extrinsic apoptotic signa
ling pathway
IDA biological_process
GO:2001241 positive regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
IDA biological_process
GO:0000082 G1/S transition of mitoti
c cell cycle
IDA biological_process
GO:0001541 ovarian follicle developm
ent
IGI biological_process
GO:0001541 ovarian follicle developm
ent
NAS biological_process
GO:0001707 mesoderm formation
IEA biological_process
GO:0001942 hair follicle development
IGI biological_process
GO:0002244 hematopoietic progenitor
cell differentiation
IEA biological_process
GO:0002244 hematopoietic progenitor
cell differentiation
IDA biological_process
GO:0005102 receptor binding
IEA molecular_function
GO:0005125 cytokine activity
IDA 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
IEA 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: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
IDA 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:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0006357 regulation of transcripti
on from RNA polymerase II
promoter
IDA biological_process
GO:0006952 defense response
TAS biological_process
GO:0007050 cell cycle arrest
IDA 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
IEA molecular_function
GO:0008083 growth factor activity
IEA molecular_function
GO:0008083 growth factor activity
TAS molecular_function
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008584 male gonad development
IGI biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IDA biological_process
GO:0017046 peptide hormone binding
IPI molecular_function
GO:0021773 striatal medium spiny neu
ron differentiation
IDA biological_process
GO:0030154 cell differentiation
TAS biological_process
GO:0030218 erythrocyte differentiati
on
NAS biological_process
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0032270 positive regulation of ce
llular protein metabolic
process
IDA biological_process
GO:0032924 activin receptor signalin
g pathway
IDA biological_process
GO:0034711 inhibin binding
IEA molecular_function
GO:0035987 endodermal cell different
iation
IDA biological_process
GO:0040007 growth
IEA biological_process
GO:0042326 negative regulation of ph
osphorylation
TAS biological_process
GO:0042476 odontogenesis
IGI biological_process
GO:0042493 response to drug
IDA biological_process
GO:0042541 hemoglobin biosynthetic p
rocess
IDA biological_process
GO:0042701 progesterone secretion
IGI biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0043408 regulation of MAPK cascad
e
IBA biological_process
GO:0043509 activin A complex
IDA cellular_component
GO:0043512 inhibin A complex
IEA cellular_component
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:0045648 positive regulation of er
ythrocyte differentiation
IDA biological_process
GO:0045650 negative regulation of ma
crophage differentiation
TAS biological_process
GO:0045786 negative regulation of ce
ll cycle
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IEA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046880 regulation of follicle-st
imulating hormone secreti
on
IGI 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:0048333 mesodermal cell different
iation
IEA biological_process
GO:0048468 cell development
IBA biological_process
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0060021 palate development
IGI biological_process
GO:0060279 positive regulation of ov
ulation
IEA biological_process
GO:0060279 positive regulation of ov
ulation
ISS biological_process
GO:0060395 SMAD protein signal trans
duction
IBA biological_process
GO:0061029 eyelid development in cam
era-type eye
IEA biological_process
GO:0061029 eyelid development in cam
era-type eye
ISS biological_process
GO:0070699 type II activin receptor
binding
IPI molecular_function
GO:0071372 cellular response to foll
icle-stimulating hormone
stimulus
IEA biological_process
GO:0071397 cellular response to chol
esterol
IEA biological_process
GO:0097154 GABAergic neuron differen
tiation
IDA biological_process
GO:0097191 extrinsic apoptotic signa
ling pathway
IDA biological_process
GO:2001241 positive regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
IDA biological_process
GO:0000082 G1/S transition of mitoti
c cell cycle
IDA biological_process
GO:0001541 ovarian follicle developm
ent
IGI biological_process
GO:0001541 ovarian follicle developm
ent
NAS biological_process
GO:0001942 hair follicle development
IGI biological_process
GO:0002244 hematopoietic progenitor
cell differentiation
IDA biological_process
GO:0005125 cytokine activity
IDA 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:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IDA 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:0005576 extracellular region
TAS cellular_component
GO:0006357 regulation of transcripti
on from RNA polymerase II
promoter
IDA biological_process
GO:0006952 defense response
TAS biological_process
GO:0007050 cell cycle arrest
IDA 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:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008584 male gonad development
IGI biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IDA biological_process
GO:0017046 peptide hormone binding
IPI molecular_function
GO:0021773 striatal medium spiny neu
ron differentiation
IDA biological_process
GO:0030154 cell differentiation
TAS biological_process
GO:0030218 erythrocyte differentiati
on
NAS biological_process
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0032270 positive regulation of ce
llular protein metabolic
process
IDA biological_process
GO:0032924 activin receptor signalin
g pathway
IDA biological_process
GO:0035987 endodermal cell different
iation
IDA biological_process
GO:0042326 negative regulation of ph
osphorylation
TAS biological_process
GO:0042476 odontogenesis
IGI biological_process
GO:0042493 response to drug
IDA biological_process
GO:0042541 hemoglobin biosynthetic p
rocess
IDA biological_process
GO:0042701 progesterone secretion
IGI biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0043408 regulation of MAPK cascad
e
IBA biological_process
GO:0043509 activin A complex
IDA cellular_component
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:0045648 positive regulation of er
ythrocyte differentiation
IDA biological_process
GO:0045650 negative regulation of ma
crophage differentiation
TAS biological_process
GO:0045786 negative regulation of ce
ll cycle
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046880 regulation of follicle-st
imulating hormone secreti
on
IGI 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:0060021 palate development
IGI biological_process
GO:0060279 positive regulation of ov
ulation
ISS biological_process
GO:0060395 SMAD protein signal trans
duction
IBA biological_process
GO:0061029 eyelid development in cam
era-type eye
ISS biological_process
GO:0070699 type II activin receptor
binding
IPI molecular_function
GO:0097154 GABAergic neuron differen
tiation
IDA biological_process
GO:0097191 extrinsic apoptotic signa
ling pathway
IDA biological_process
GO:2001241 positive regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
IDA biological_process

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa04350  TGF-beta signaling pathway

Diseases

Associated diseases References
Amenorrhea PMID: 21627557
Amyotrophic lateral sclerosis (ALS) PMID: 18608101
Asthenozoospermia PMID: 25269872
Azoospermia PMID: 9619549
Benign ovarian cysts PMID: 15893868
Congenital hypogonadotropic hypogonadism PMID: 20980953
Cryptorchidism PMID: 11397857
Decreased ovarian reserve (DOR) PMID: 25176102
Disorders of spermatogenesis PMID: 17462637
Endometriosis PMID: 10899494
Female infertility PMID: 11706635
Gonadal dysfunction PMID: 10927037
Hypogonadotropic hypogonadism PMID: 20826577
Hypospermatogenesis PMID: 24752115
Hypothalamic amenorrhea PMID: 9806574
Impaired spermatogenesis PMID: 21104644
Implantation failure PMID: 20457668
Luteal phase defects (LPD) PMID: 2506214
Male gonadal dysfunction PMID: 12466353
Male infertility PMID: 14574812
Mayer-Rokitansky-Kuster-Hauser syndrome PMID: 19101883
Non-obstructive azoospermia (NOA) PMID: 20172518
Oligoazoospermia PMID: 12554256
Oligozoospermia PMID: 25740852
Oocyte retrieval PMID: 16650414
Ovarian endometriosis PMID: 11172841
Ovarian endometriosis PMID: 19386982
Ovarian reserve PMID: 16277899
Ovarian hyperstimulation syndrome(OHSS) PMID: 24455972
Polycystic ovary syndrome (PCOS) PMID: 11278215
Ovarian endometriosis INFBASE19386982
Ovarian endometriosis INFBASE11172841
Female infertility INFBASE10899494
Endometriosis associated infertility INFBASE9806293
Endometriosis INFBASE9806293
Poor ovarian response (POR) PMID: 21843890
Premature ovarian failure ( POF) PMID: 15562017
Primary ovarian insufficiency (POI) PMID: 18211971
Psychiatric disorders PMID: 19086053
Secondary amenorrhea PMID: 9806574
Secondary oligoamenorrhea PMID: 21737073
Sertoli cell-only syndrome (SCOS) PMID: 15551748
Spermatogenetic defects PMID: 11397833
Testicular spermatogenesis PMID: 18154424
Tubal damage PMID: 10735596
Unexplained infertility PMID: 10783349
Varicocele PMID: 12653784

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
10899494 Endometrio
sis

30 (20 women wi
th endometriosi
s, 10 with tuba
l factor)
Female infertility
Show abstract
19386982 Endometrio
sis (ovari
an)

30 (15 women wi
th ovarian endo
metrioma, 15 eu
topic endometri
um of healthy p
articipants)
Activin A
ActRII
nodal
cripto
Show abstract
9806293 Endometrio
sis

72 (35 control
women, 37 women
with endometri
osis)
Female infertility activinA
Show abstract
11172841 Endometrio
sis (ovari
an)

19 women with o
varian endometr
iotic cysts
inhibin A
activin A
Show abstract
21496809 Endometrio
sis

96 (48 women wi
th endometrioma
, 48 women with
out endometrios
is)
activin A
cripto
follistatin
Show abstract