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.
View complete mutation data:
Gene Ontology (GO)
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 Services
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 |
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