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autosomal dominant nonsyndromic hearing loss 2B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 2B

MONDO:0012976

Also known as:DFNA2BGJB3 autosomal dominant nonsyndromic deafnessautosomal dominant deafness 2B

Overview

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene.

GeneticsAutosomal dominant · GJB3 (chr 1)

ResearchLimited published research (1 article)

Clinical Presentation

Features include: High-frequency hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	1	High-frequency hearing impairment

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GJB3 encodes gap junction protein beta 3 (270 aa). One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell Highest expression in Skin Sun Exposed Lower leg (184.0 TPM) and Skin Not Sun Exposed Suprapubic (182.9 TPM).

Autosomal dominant nonsyndromic hearing loss 2B is associated with mutations in the GJB3 gene on chromosome 1.

The GJB3 protein participates in Keratinocyte of granulosum layer differentiates into corneocyte of corneum layer in interfollicular epidermis pathway.

GJB3 is classified as a druggable target (Ion Channel and Transporter categories) with score 8.7.

Diagnosis

Genetic testing for GJB3 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal dominant nonsyndromic hearing loss 2B.

2 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 2B. Kisho has analyzed 1 by research type. Research spans Basic Science / Preclinical (100%).

Recent Publications

Choudhury A (2025). [PMID: 41354963](https://pubmed.ncbi.nlm.nih.gov/41354963/). *J Neuroinflammation*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612644

GARD

Genetic and Rare Diseases Info Center

GARD:18131

Questions for Your Care Team

→Should I pursue genetic testing for GJB3, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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autosomal dominant nonsyndromic hearing loss 2B

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team