1. Gene
  2. GJC3 - gap junction protein gamma 3 Gene

GJC3 - gap junction protein gamma 3 Gene

Homo sapiens

Also known as CX29; GJE1; CX30.2; CX31.3

Gene ID: 349149 | Gene type: protein coding

About GJC3

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:99,923,266-99,930,747 (from NCBI)

This gene has 1 transcript (splice variant), 95 orthologues and 20 paralogues. Broad expression in prostate (RPKM 2.6), pancreas (RPKM 1.5) and 14 other tissues.

Summary

This gene encodes a Gap Junction Protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]

GJC3 Products(1)

mRNA Protein Name
NM_181538.3 NP_853516.1 gap junction gamma-3 protein

GJC3 Protein Structure

Connexin

Connexin: Connexin (5 - 99)

(147 - 213)

  • 0
  • 100
  • 200
  • 279 a.a.
Protein Preferred Names Protein Names

gap junction gamma-3 protein

connexin 29

Related Diseases

Diseases Alias
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

CMTX1

Cmtx

Charcot-Marie-Tooth Disease X-Linked Dominant 1

Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1

X-Linked Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked

Cmt1x

X-Linked Charcot-Marie-Tooth Disease Type 1

X-Linked Hereditary Motor And Sensory Neuropathy

Hereditary Motor And Sensory Neuropathy, X-Linked

Hmsn, X-Linked

Charcot-Marie-Tooth Neuropathy, X-Linked, 1

Cmt2, Formerly

Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1

Charcot-Marie-Tooth Neuropathy X-Linked 1

Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked

Hereditary Motor And Sensory Neuropathy X-Linked

Hmsn X-Linked

Charcot-Marie-Tooth, X-Linked

Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1

Charcot-Marie-Tooth Disease, X-Linked, 1

Charcot-Marie-Tooth Disease Type X
Testicular Thecoma
Leukodystrophy, Hypomyelinating, 2

Pmld1

Hypomyelinating Leukodystrophy 2

HLD2

Pelizaeus-Merzbacher-Like Disease 1

Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation

Pelizaeus-Merzbacher-Like Disease Type 1

Pelizaeus-Merzbacher-Like Disease, 1

Pelizaeus Merzbacher Like Disease

Pelizaeus-Merzbacher-Like Disease

Pmld - Pelizaeus Merzbacher Like Disease

Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1

Pmldar1

Leukodystrophy, Hypomyelinating, Type 2

Oculodentodigital Dysplasia

Odd Syndrome

ODDD

Oculodentoosseous Dysplasia

Oculodentodigital Syndrome

Odod

Oculo-Dento-Digital Dysplasia

Oculo-Dento-Digital Syndrome

Oculo-Dento-Osseous Dysplasia

Osseous-Oculo-Dental Dysplasia

Meyer-Schwickerath Syndrome

Oddd Syndrome

Oculo Dento Digital Dysplasia

Odds

Oculodentodigital Dysplasia Syndrome

Hallermann-Streiff Syndrome

Francois Dyscephalic Syndrome

HSS

Hallermann'S Syndrome

Oculomandibulofacial Syndrome

Hallerman - Streiff Syndrome

François Dyscephalic Syndrome

Hallermann Streiff Francois Syndrome

Hallermann Streiff Syndrome

Palmoplantar Keratoderma And Congenital Alopecia 1

Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia

PPKCA1

Keratoderma-Hypotrichosis-Leukonychia Totalis Syndrome

Autosomal Dominant Palmoplantar Hyperkeratosis And Congenital Alopecia

Palmoplantar Keratoderma And Congenital Alopecia, Stevanovic Type

Ppk-Ca, Stevanovic Type

Ppkca, Stevanovic Type

Palmoplantar Keratoderma With Congenital Alopecia

Ppkca Stevanovic Type

Alopecia Congenita With Hyperkeratosis Of The Palms And Soles

Alopecia Congenita Keratosis Palmoplantaris

Keratoderma, Palmoplantar, With Congenital Alopecia, Type 1

Wolff-Parkinson-White Syndrome

Wolff-Parkinson-White Pattern

Wpw Syndrome

Anomalous Atrioventricular Excitation

Anomalous A-V Excitation

Ventricular Pre-Excitation With Arrhythmia

WPWS

Ventricular Familial Preexcitation Syndrome

Preexcitation Syndrome

Ventricular Preexcitation

Wpw - [Wolff-Parkinson- White] Syndrome

Pre-Excitation Syndrome

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis

Erythrokeratodermia Variabilis Et Progressiva

Greither Disease

Ekv

Ekvp

PSEK

Erythrokeratodermia Variabilis With Erythema Gyratum Repens

Keratosis Palmoplantaris Transgrediens Et Progrediens

Transgrediens Et Progrediens Palmoplantar Keratoderma

EKVP1

Erythrokeratodermia, Progressive Symmetric

Erythrokeratodermia Figurata, Congenital Familial, In Plaques

Keratoderma Palmoplantaris Transgrediens

Keratosis Extremitatum Hereditaria Progrediens

Erythrokeratodermia Variabilis, Mendes Da Costa Type

Progressive Symmetric Erythrokeratodermia

Erythrokeratodermia Figurata Variabilis

Greither'S Disease

Ekv-P

Erythrokeratodermia Variabilis Of Mendes Da Costa

Progressive Symmetrical Erythrokeratoderma Of Gottron

Progressive Diffuse Ppk

Progressive Diffuse Palmoplantar Keratoderma

Transgrediens Et Progrediens Ppk

Darier-Gottron Disease

Erythrokeratodermia Progressiva Symmetrica

Progressive Symmetric Erythrokeratodermia, Gottron Type

Congenital Familial Erythrokeratodermia Figurata In Plaques

Erythrokeratodermia Progressive Symmetric

Erythrokeratodermia Variabilis Mendes Da Costa Type

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus GJC3 RGD RGD:727930
Mus musculus GJC3 MGD MGI:2153041
Bos taurus GJC3 VGNC VGNC:29384
Macaca mulatta GJC3 VGNC VGNC:72956
Canis familiaris GJC3 VGNC VGNC:54027
Felis catus GJC3 VGNC VGNC:80576