INHBA inhibin subunit beta A [Homo sapiens (human)] - Gene

Summary

Official Symbol: INHBAprovided by HGNC
Official Full Name: inhibin subunit beta Aprovided by HGNC
Primary source: HGNC:HGNC:6066
See related: Ensembl:ENSG00000122641 MIM:147290; AllianceGenome:HGNC:6066
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
Also known as: EDF; FRP
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 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]
Expression: Broad expression in endometrium (RPKM 12.3), gall bladder (RPKM 11.3) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p14.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (41685114..41705406, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (41843512..41867440, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (41724712..41742688, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Discovery of PELATON links to the INHBA gene in the TGF-beta pathway in colorectal cancer using a combination of bioinformatics and experimental investigations.
Title: Discovery of PELATON links to the INHBA gene in the TGF-β pathway in colorectal cancer using a combination of bioinformatics and experimental investigations.
Inhibin A contributes to the tumorigenesis of oral squamous cell carcinoma by KIAA1429-mediated m6A modification.
Title: Inhibin A contributes to the tumorigenesis of oral squamous cell carcinoma by KIAA1429-mediated m6A modification.
Elevated INHBA Promotes Tumor Progression of Cervical Cancer.
Title: Elevated INHBA Promotes Tumor Progression of Cervical Cancer.
INHBA is Enriched in HPV-negative Oropharyngeal Squamous Cell Carcinoma and Promotes Cancer Progression.
Title: INHBA is Enriched in HPV-negative Oropharyngeal Squamous Cell Carcinoma and Promotes Cancer Progression.
FOXA2-initiated transcriptional activation of INHBA induced by methylmalonic acid promotes pancreatic neuroendocrine neoplasm progression.
Title: FOXA2-initiated transcriptional activation of INHBA induced by methylmalonic acid promotes pancreatic neuroendocrine neoplasm progression.
The New Role of HNF1A-NAS1/miR-214/INHBA Signaling Axis in Colorectal Cancer.
Title: The New Role of HNF1A-NAS1/miR-214/INHBA Signaling Axis in Colorectal Cancer.
DeltaNp63 overexpression promotes oral cancer cell migration through hyperactivated Activin A signaling.
Title: ΔNp63 overexpression promotes oral cancer cell migration through hyperactivated Activin A signaling.
Impaired angiogenesis in diabetic critical limb ischemia is mediated by a miR-130b/INHBA signaling axis.
Title: Impaired angiogenesis in diabetic critical limb ischemia is mediated by a miR-130b/INHBA signaling axis.
Correlation of INHBA Overexpression with Pathological Features, Antitumor Immune Response and Clinical Prognosis in Cervical Cancer.
Title: Correlation of INHBA Overexpression with Pathological Features, Antitumor Immune Response and Clinical Prognosis in Cervical Cancer.
CGB5, INHBA and TRAJ19 Hold Prognostic Potential as Immune Genes for Patients with Gastric Cancer.
Title: CGB5, INHBA and TRAJ19 Hold Prognostic Potential as Immune Genes for Patients with Gastric Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (236)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies new susceptibility loci for migraine. EBI GWAS Catalog EBI GWAS CatalogPubMed
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of inhibin, beta A (INHBA) in human B cells	PubMed
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of inhibin, beta A (INHBA) in peptide-treated PBMCs	PubMed
Tat	tat	HIV-1 Tat upregulates the expression of inhibin, beta A (INHBA) in human primary T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:435302 (e-PCR)
- UniSTS:157224

GDB:215624 (e-PCR)
- UniSTS:156201

SHGC-84854 (e-PCR)
- UniSTS:104757

D7S2548 (e-PCR), detects polymorphism
- UniSTS:76094

D7S2548 (e-PCR), detects polymorphism
- UniSTS:79471

SHGC-12763 (e-PCR)
- UniSTS:41583

INHBA (e-PCR)
- UniSTS:41584

INHBA_750 (e-PCR)
- UniSTS:277384

INHBA_V109 (e-PCR)
- UniSTS:277384

AFMa283xf5 (e-PCR)
- UniSTS:42664

G15849 (e-PCR)
- UniSTS:74939

INHBA (e-PCR)
- UniSTS:265960

INHBA-STS (e-PCR), detects polymorphism
- UniSTS:253169

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine activity	IDA Inferred from Direct Assay 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 identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables peptide hormone 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 type II activin receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in GABAergic neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in SMAD protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in Sertoli cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in activin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in androgen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in androst-4-ene-3,17-dione biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in cardiac fibroblast cell development	IEA Inferred from Electronic Annotation more info
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 cellular response to angiotensin	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cholesterol	IEA Inferred from Electronic Annotation more info
involved_in cellular response to follicle-stimulating hormone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in cellular response to oxygen-glucose deprivation	IEA Inferred from Electronic Annotation more info
involved_in cytokine-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in defense response	TAS Traceable Author Statement more info	PubMed
involved_in endodermal cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in erythrocyte differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in extrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in eyelid development in camera-type eye	ISS Inferred from Sequence or Structural Similarity more info
involved_in hair follicle development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in hematopoietic progenitor cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in hemoglobin biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in male gonad development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in mesodermal cell differentiation	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 G1/S transition of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay 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 nervous system development	NAS Non-traceable Author Statement more info	PubMed
involved_in odontogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ovarian follicle development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ovarian follicle development	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of collagen biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of erythrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of follicle-stimulating hormone secretion	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ovulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase III	IEA Inferred from Electronic Annotation more info
involved_in progesterone secretion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of follicle-stimulating hormone secretion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in response to aldosterone	IEA Inferred from Electronic Annotation more info
NOT involved_in response to wounding	TAS Traceable Author Statement more info	PubMed
involved_in roof of mouth development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in striatal medium spiny neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in testosterone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of activin A complex	IDA Inferred from Direct Assay more info	PubMed
part_of enzyme activator complex	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
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
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: inhibin beta A chain

Names: FSH-releasing protein; Inhibin, beta-1; activin beta-A chain; erythroid differentiation factor; erythroid differentiation protein; follicle-stimulating hormone-releasing protein; inhibin beta A subunit; inhibin, beta A (activin A, activin AB alpha polypeptide)

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.

mRNA and Protein(s)

NM_002192.4 → NP_002183.1 inhibin beta A chain preproprotein

See identical proteins and their annotated locations for NP_002183.1

Status: REVIEWED

Source sequence(s)

AA491465, AC005027, AK001903, AU137531, BC007858

Consensus CDS

CCDS5464.1

UniProtKB/Swiss-Prot

P08476, Q14599

UniProtKB/TrEMBL

A4D1W7, Q53H39, Q9HBP0

Related

ENSP00000242208.4, ENST00000242208.5

Conserved Domains (2) summary

cd19404
Location:319 → 426

TGF_beta_INHBA; transforming growth factor beta (TGF-beta) like domain found in inhibin beta A chain (INHBA) and similar proteins

cl02928
Location:56 → 236

TGFb_propeptide; TGF-beta propeptide