INHBC inhibin subunit beta C [Homo sapiens (human)] - Gene

Summary

Official Symbol: INHBCprovided by HGNC
Official Full Name: inhibin subunit beta Cprovided by HGNC
Primary source: HGNC:HGNC:6068
See related: Ensembl:ENSG00000175189 MIM:601233; AllianceGenome:HGNC:6068
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: IHBC
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 homodimeric and heterodimeric activin complexes. The heterodimeric complex may function in the inhibition of activin A signaling. Transgenic mice overexpressing this gene exhibit defects in testis, liver and prostate. [provided by RefSeq, Aug 2016]
Expression: Restricted expression toward liver (RPKM 50.2) See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (57434784..57452062)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (57403060..57420351)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (57828567..57845845)

Chromosome 12 - NC_000012.12 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 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?

Study shows an up-regulation of activin-C in aggressive prostate cancer only, suggesting that activin-C may play a role in the advanced stages of the disease.
Title: Over-Expression of Activin-β(C) Is Associated with Murine and Human Prostate Disease.
Activin A, B, and AB have similar effects on steroidogenesis in human granulosa cells; in contrast, activin AC is not biologically active and does not act as a competitive antagonist.
Title: Effects of recombinant activins on steroidogenesis in human granulosa-lutein cells.
Serum inhibin levels correlate with clinical characteristics and mortality in epithelial ovarian cancer patients.
Title: Serum inhibin A and inhibin B levels in epithelial ovarian cancer patients.
The inhibin-betaC subunit is down-regulated, while inhibin-betaE is up-regulated by interferon-beta1a in Ishikawa carcinoma cell line.
Title: The inhibin-βC subunit is down-regulated, while inhibin-βE is up-regulated by interferon-β1a in Ishikawa carcinoma cell line.
Single Nucleotide Polymorphisms in INHBC gene is associated with brain metastasis in non-small-cell lung cancer
Title: SNPs in the TGF-β signaling pathway are associated with increased risk of brain metastasis in patients with non-small-cell lung cancer.
Activin-beta(C) is a regulator of activin-A. Activin-beta(C) is able to abolish cachexia and modulate reproductive tumour development in inhibin alpha-subunit knockout mice (alpha-KO) mice.
Title: Activin-β(c) reduces reproductive tumour progression and abolishes cancer-associated cachexia in inhibin-deficient mice.
inhibin-betaC in normal and pathological placental tissue was demonstrated, although no differences in staining intensity could be observed. Functional role of novel inhibin-betaC subunit in normal and pathological human placenta is still quite unclear.
Title: Inhibin-betaC subunit expression in normal and pathological human placental tissues.
in endometrial cancer tissue demonstrated a significant association with hemangiosis although without any impact on the patients' survival
Title: Inhibin/activin-betaC subunit does not represent a prognostic parameter in human endometrial cancer.
Data show that inhibin A levels were significantly lower in the PCOS group compared to the control group, and inhibin B levels were comparable in the two groups.
Title: Inhibin secretion in women with the polycystic ovary syndrome before and after treatment with progesterone.
differential expression pattern of the betaC- and betaE-subunits in normal human endometrial tissue suggests that they function in endometrial maturation and blastocyst implantation.
Title: Evidence of inhibin/activin subunit betaC and betaE synthesis in normal human endometrial tissue.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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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

WI-19145 (e-PCR)
- UniSTS:10652

D1S3690 (e-PCR)
- UniSTS:474268

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables hormone activity	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta receptor binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: inhibin beta C chain

Names: activin beta-C chain; inhibin beta C 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.