GJB5 - gap junction protein beta 5 Gene

Homo sapiens

Also known as CX31.1

Gene ID: 2709 | Gene type: protein coding

About GJB5

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:34,755,047-34,758,512 (from NCBI)

This gene has 1 transcript (splice variant), 375 orthologues and 20 paralogues. Biased expression in skin (RPKM 23.3), esophagus (RPKM 21.2) and 2 other tissues.

Summary

This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a Gap Junction Protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung Cancer. [provided by RefSeq, Nov 2012]

GJB5 Products(1)

mRNA	Protein	Name
NM_005268.4	NP_005259.1	gap junction beta-5 protein

GJB5 Protein Structure

Connexin

0
100
200
273 a.a.

Protein Preferred Names

Protein Names

gap junction beta-5 protein

gap junction protein, beta 5 (connexin 31.1)

Related Diseases

Diseases

Alias

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

Vohwinkel Syndrome

Mutilating Keratoderma	Keratoderma Hereditarium Mutilans
Khm	VOWNKL
Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes	Mutilating Keratoderma Of Vohwinkel
Mutilating Keratoderma Plus Deafness	Ppk Mutilans And Deafness
Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes	Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes
Palmoplantar Keratoderma Mutilans	Palmoplantar Keratoderma Mutilans Vohwinkel
Ppk Mutilans Vohwinkel	Mutilating Keratoderma Plus Hearing Loss
Ppk Mutilans And Hearing Loss

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

Bart-Pumphrey Syndrome

Knuckle Pads, Leukonychia, And Sensorineural Deafness	BAPS
Knuckle Pads, Leuconychia And Sensorineural Deafness	Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome	Knuckle Pads, Deafness And Leukonychia Syndrome
Knuckle Pads, Deafness, And Leukonychia Syndrome	Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Hyperkeratosis Syndrome
Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma Syndrome

Clouston Syndrome

Ectodermal Dysplasia 2, Clouston Type	Hidrotic Ectodermal Dysplasia
ECTD2	Clouston'S Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia Syndrome	Clouston Hidrotic Ectodermal Dysplasia
Clouston'S Syndrome	Ed2
Ectodermal Dysplasia, Hidrotic	Hed2
Ectodermal Dysplasia	Ectodermal Dysplasia, Hidrotic, Autosomal Dominant
Ectodermal Dysplasia, Hidrotic, 2, Formerly	Hed2, Formerly
Autosomal Dominant Hidrotic Ectodermal Dysplasia	Hed
Hidrotic Ectodermal Dysplasia, Autosomal Dominant	Hidrotic Ectodermal Dysplasia 2
Ectodermal Dysplasia 2 Hidrotic	Ectodermal Dysplasia Hidrotic Autosomal Dominant
Dysplasia, Ectodermal, Hidrotic

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

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05450	GJB5 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GJB5	VGNC	VGNC:41241
Macaca mulatta	GJB5	VGNC	VGNC:73063
Rattus norvegicus	GJB5	RGD	RGD:2696
Bos taurus	GJB5	VGNC	VGNC:29380
Mus musculus	GJB5	MGD	MGI:95723
Felis catus	GJB5	VGNC	VGNC:62566