INHBE: Inhibin Subunit Beta E

A TGF-beta superfamily member with roles in metabolic regulation and cancer

Gene Information Card

Symbol INHBE
Full Name Inhibin Subunit Beta E
Gene Type Protein coding
Chromosomal Location 12q13.3
NCBI Gene ID 83729 ncbi.nlm.nih.gov/gene/83729
Ensembl ID ENSG00000139269
UniProt ID P58166
OMIM ID 612031
HGNC ID 24028
Aliases Activin beta-E chain, inhibin beta E subunit

Description

INHBE encodes the beta E subunit of inhibin, a member of the transforming growth factor-beta (TGF-beta) superfamily. The protein forms activin E (a homodimer of beta E subunits) or heterodimers with other inhibin subunits. Activin E is involved in cell growth regulation, differentiation, and metabolic processes, particularly in the liver. INHBE expression is associated with hepatic lipid metabolism and has been implicated in obesity and type 2 diabetes. Additionally, altered INHBE expression is observed in various cancers, suggesting a role in tumorigenesis.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Obesity INHBE variants may influence adiposity and energy homeostasis through activin E signaling in the liver. GWAS studies (PMID: 30239722)
Type 2 Diabetes Reduced INHBE expression in liver is linked to insulin resistance and altered glucose metabolism. Expression studies (PMID: 25664854)
Hepatocellular Carcinoma INHBE overexpression in liver cancer may promote tumor growth via TGF-beta pathway activation. Cancer genomics (COSMIC)
Colorectal Cancer Dysregulation of INHBE expression is observed in colorectal tumors, potentially affecting cell proliferation. Expression profiling (PMID: 23593055)

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 12.5 High
Adipose Tissue 3.2 Medium
Pancreas 1.8 Low
Kidney 0.9 Low
Lung 0.5 Not detected
Cell Line Expression
Cell Line nTPM Notes
HepG2 15.0 Liver cancer cell line, high expression
Huh-7 11.3 Hepatocellular carcinoma cell line
3T3-L1 2.1 Adipocyte precursor, moderate expression
HeLa 0.2 Cervical cancer, very low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense <0.01% Likely loss of start codon, predicted loss of function
c.287C>T (p.Pro96Leu) Missense 0.02% Rare variant, functional impact unknown
c.523G>A (p.Gly175Arg) Missense 0.01% Located in TGF-beta domain, may affect receptor binding
Mutation functional classification

Loss of Function (LOF)

Mutations disrupting the start codon or critical residues in the TGF-beta domain are predicted to impair activin E signaling, potentially contributing to metabolic disorders.

Gain of Function (GOF)

No well-characterized gain-of-function mutations reported in INHBE.

Dominant Negative (DN)

No evidence for dominant-negative effects; INHBE mutations are typically recessive or have incomplete penetrance.

Pathways

• TGF-beta signaling pathway (KEGG: hsa04350)
• Activin signaling (Reactome: R-HSA-1502540)
• Regulation of lipid metabolism by activin E (PMID: 25664854)

Protein Summary

Inhibin subunit beta E (INHBE) is a 426-amino acid protein that forms activin E, a dimeric cytokine. It is synthesized as a precursor with a signal peptide and a prodomain, then cleaved to produce the mature beta E subunit. The mature protein contains a conserved TGF-beta domain with cysteine knots essential for dimerization and receptor binding. Activin E signals through type I and type II activin receptors (e.g., ACVR1B, ACVR2A) to regulate SMAD2/3 transcription factors, influencing cell growth, differentiation, and metabolism. INHBE is predominantly expressed in the liver and adipose tissue, where it modulates lipid homeostasis and insulin sensitivity.

Related Products

Product name Cat.No. Species Gene ID
INHBE Knockout HEK293 Cell Line EDJ-KQ387 Human 83729 Details Get a Quote
INHBE Knockout A-549 Cell Line EDJ-KQ18598 Human 83729 Details Get a Quote
INHBE Knockout HeLa Cell Line EDJ-KQ57474 Human 83729 Details Get a Quote
INHBE Knockout HCT 116 Cell Line EDJ-KQ74399 Human 83729 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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