INHBE inhibin subunit beta E [Homo sapiens (human)] - Gene

Summary

Official Symbol: INHBEprovided by HGNC
Official Full Name: inhibin subunit beta Eprovided by HGNC
Primary source: HGNC:HGNC:24029
See related: Ensembl:ENSG00000139269 MIM:612031; AllianceGenome:HGNC:24029
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 an inhibin beta subunit. Inhibins have been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. This gene may be upregulated under conditions of endoplasmic reticulum stress, and this protein may inhibit cellular proliferation and growth in pancreas and liver. [provided by RefSeq, Sep 2016]
Expression: Restricted expression toward liver (RPKM 43.7) See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (57455307..57458025)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (57423596..57426314)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (57849090..57851808)

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
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?

Identification and validation of INHBE and P4HA1 as hub genes in non-alcoholic fatty liver disease.
Title: Identification and validation of INHBE and P4HA1 as hub genes in non-alcoholic fatty liver disease.
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Title: Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity.
Title: Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity.
The Significance of INHBE Expression in the Cancer Cells of Clear-Cell Renal Cell Carcinoma.
Title: The Significance of INHBE Expression in the Cancer Cells of Clear-Cell Renal Cell Carcinoma.
INHBE functions as a possible hepatokine to alter the whole-body metabolic status under obese insulin-resistant condition
Title: Inhibin βE (INHBE) is a possible insulin resistance-associated hepatokine identified by comprehensive gene expression analysis in human liver biopsy samples.
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.
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.
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.
Expression of the inhibin betaC and betaE subunits was demonstrated at the protein level and at the transcriptional level in normal human endometrial tissue and in the Ishikawa human endometrial carcinoma cell line.
Title: Inhibin/activin-betaC and -betaE subunits in the Ishikawa human endometrial adenocarcinoma cell line.
An immunolabelling of the inhibin-betaE subunit in normal and malignant cervical tissue, as well as cervical cancer cells, is demonstrated.
Title: Inhibin/activin-betaE subunit in normal and malignant human cervical tissue and cervical cancer cell lines.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

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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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

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

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA 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 E chain

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