INHA inhibin subunit alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: INHAprovided by HGNC
Official Full Name: inhibin subunit alphaprovided by HGNC
Primary source: HGNC:HGNC:6065
See related: Ensembl:ENSG00000123999 MIM:147380; AllianceGenome:HGNC:6065
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
Expression: Biased expression in testis (RPKM 55.0), adrenal (RPKM 22.2) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q35

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (219572310..219575711)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (220057015..220060416)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (220437032..220440433)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Altered Endometrial Expression of alpha-Inhibin Subunit and Its Co-Receptor Betaglycan in Infertile Women with Endometriosis.
Title: Altered Endometrial Expression of α-Inhibin Subunit and Its Co-Receptor Betaglycan in Infertile Women with Endometriosis.
Testicular Sertoli Cell Hormones in Differences in Sex Development.
Title: Testicular Sertoli Cell Hormones in Differences in Sex Development.
Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume.
Title: Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume.
An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.
Title: An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.
Variations in the inhibin gene in Kashmiri women with primary ovarian insufficiency.
Title: Variations in the inhibin gene in Kashmiri women with primary ovarian insufficiency.
PAPP-A2 and Inhibin A as Novel Predictors for Pregnancy Complications in Women With Suspected or Confirmed Preeclampsia.
Title: PAPP-A2 and Inhibin A as Novel Predictors for Pregnancy Complications in Women With Suspected or Confirmed Preeclampsia.
ALK4-SMAD3/4 mediates the effects of activin A on the upregulation of PAI-1 in human granulosa lutein cells.
Title: ALK4-SMAD3/4 mediates the effects of activin A on the upregulation of PAI-1 in human granulosa lutein cells.
Association of polymorphism c.-124G>A and c.-16 C>T in the promoter region of human INHA gene with altered sperm parameters; A pilot study.
Title: Association of polymorphism c.-124G>A and c.-16 C>T in the promoter region of human INHA gene with altered sperm parameters; A pilot study.
Engineering the Ovarian Hormones Inhibin A and Inhibin B to Enhance Synthesis and Activity.
Title: Engineering the Ovarian Hormones Inhibin A and Inhibin B to Enhance Synthesis and Activity.
Polymorphisms in inhibin alpha gene promoter associated with male infertility.
Title: Association of single nucleotide polymorphism in the promoter region of the Inhibin α gene with infertility in Pakistani males.

Submit: New GeneRIF Correction See all GeneRIFs (129)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD10557 (e-PCR)
- UniSTS:291596

G67371 (e-PCR)
- UniSTS:186398

RH76187 (e-PCR)
- UniSTS:89664

GDB:181252 (e-PCR)
- UniSTS:155220

REN53413 (e-PCR)
- UniSTS:378213

REN53414 (e-PCR)
- UniSTS:378214

REN53415 (e-PCR)
- UniSTS:378215

REN53416 (e-PCR)
- UniSTS:378216

REN53417 (e-PCR)
- UniSTS:378217

REN53418 (e-PCR)
- UniSTS:378218

REN53419 (e-PCR)
- UniSTS:378219

REN53420 (e-PCR)
- UniSTS:378220

REN53421 (e-PCR)
- UniSTS:378221

REN53422 (e-PCR)
- UniSTS:378222

REN53423 (e-PCR)
- UniSTS:378223

REN53424 (e-PCR)
- UniSTS:378224

REN53425 (e-PCR)
- UniSTS:378225

REN53426 (e-PCR)
- UniSTS:378226

INHA_4110 (e-PCR)
- UniSTS:464499

REN53427 (e-PCR)
- UniSTS:378227

REN53428 (e-PCR)
- UniSTS:378228

REN53429 (e-PCR)
- UniSTS:378229

REN53430 (e-PCR)
- UniSTS:378230

REN53431 (e-PCR)
- UniSTS:378231

REN53432 (e-PCR)
- UniSTS:378232

REN53433 (e-PCR)
- UniSTS:378233

REN53434 (e-PCR)
- UniSTS:378234

REN53435 (e-PCR)
- UniSTS:378235

ECD08636 (e-PCR)
- UniSTS:289684

ECD06887 (e-PCR)
- UniSTS:287945

ECD18972 (e-PCR)
- UniSTS:299982

UniSTS:143587 (e-PCR)
- UniSTS:143587

Inha (e-PCR), detects polymorphism
- UniSTS:143587

ECD20291 (e-PCR)
- UniSTS:301294

ECD17211 (e-PCR)
- UniSTS:298224

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine activity	TAS Traceable Author Statement more info	PubMed
enables growth factor activity	TAS Traceable Author Statement more info	PubMed
enables hormone activity	TAS Traceable Author Statement more info	PubMed
enables inhibin binding	IEA Inferred from Electronic Annotation more info
contributes_to protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	TAS Traceable Author Statement more info	PubMed
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in erythrocyte differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in hemoglobin biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of B cell differentiation	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of follicle-stimulating hormone secretion	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of macrophage differentiation	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of phosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of type II interferon production	TAS Traceable Author Statement more info	PubMed
involved_in ovarian follicle development	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of follicle-stimulating hormone secretion	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in skeletal system development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
part_of inhibin A complex	IDA Inferred from Direct Assay more info	PubMed
part_of inhibin B complex	IEA Inferred from Electronic Annotation more info
part_of inhibin-betaglycan-ActRII complex	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: inhibin alpha chain

Names: A-inhibin subunit; inhibin alpha subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.