GJB5 - gap junction protein beta 5 Gene

Also Known as CX31.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2709

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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)

GJB5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GJB5	O95377	RTP2	Homo sapiens	Q5QGT7	Validated Y2H	32296183
Intra	GJB5	O95377	JAGN1	Homo sapiens	Q8N5M9	Validated Y2H	32296183
Intra	GJB5	O95377	SLC41A2	Homo sapiens	Q96JW4	Validated Y2H	32296183
Intra	GJB5	O95377	SLC38A7	Homo sapiens	Q9NVC3	Validated Y2H	32296183
Intra	GJB5	O95377	SERP1	Homo sapiens	Q9Y6X1	Validated Y2H	32296183
Intra	GJB5	O95377	PLPP4	Homo sapiens	Q5VZY2	Validated Y2H	32296183
Intra	GJB5	O95377	RPRM	Homo sapiens	Q9NS64	Validated Y2H	32296183
Intra	GJB5	O95377	TMEM128	Homo sapiens	Q5BJH2-2	Validated Y2H	32296183
Intra	GJB5	O95377	PLPP6	Homo sapiens	Q8IY26	Validated Y2H	32296183
Intra	GJB5	O95377	C4orf3	Homo sapiens	Q8WVX3-2	Validated Y2H	32296183
Intra	GJB5	O95377	TMEM86A	Homo sapiens	Q8N2M4	Validated Y2H	32296183
Intra	GJB5	O95377	CTXN3	Homo sapiens	Q4LDR2	Validated Y2H	32296183
Intra	GJB5	O95377	LPAR3	Homo sapiens	Q9UBY5	Validated Y2H	32296183
Intra	GJB5	O95377	MS4A13	Homo sapiens	Q5J8X5	Validated Y2H	32296183
Intra	GJB5	O95377	PGAP2	Homo sapiens	Q9UHJ9-5	Validated Y2H	32296183
Intra	GJB5	O95377	TMEM97	Homo sapiens	Q5BJF2	Validated Y2H	32296183
Intra	GJB5	O95377	VSTM1	Homo sapiens	Q6UX27-3	Validated Y2H	32296183
Intra	GJB5	O95377	TSPO2	Homo sapiens	Q5TGU0	Validated Y2H	32296183
Intra	GJB5	O95377	SLC41A1	Homo sapiens	Q8IVJ1	Validated Y2H	32296183
Intra	GJB5	O95377	LRP10	Homo sapiens	Q7Z4F1	Validated Y2H	32296183
Intra	GJB5	O95377	TMEM60	Homo sapiens	Q9H2L4	Validated Y2H	32296183
Intra	GJB5	O95377	FAM3C	Homo sapiens	Q92520	Validated Y2H	32296183
Intra	GJB5	O95377	COMT	Homo sapiens	P21964	Validated Y2H	32296183
Intra	GJB5	O95377	NAPB	Homo sapiens	Q9H115	Validated Y2H	32296183
Intra	GJB5	O95377	APOL2	Homo sapiens	Q9BQE5	Validated Y2H	32296183
Intra	GJB5	O95377	ERG28	Homo sapiens	Q9UKR5	Validated Y2H	32296183
Intra	GJB5	O95377	IGFBP5	Homo sapiens	P24593	Validated Y2H	32296183
Intra	GJB5	O95377	AQP1	Homo sapiens	P29972	Validated Y2H	32296183
Intra	GJB5	O95377	MIP	Homo sapiens	P30301	Validated Y2H	32296183
Intra	GJB5	O95377	SLC30A2	Homo sapiens	Q9BRI3	Validated Y2H	32296183
Intra	GJB5	O95377	TM4SF4	Homo sapiens	P48230	Validated Y2H	32296183
Intra	GJB5	O95377	SEC22A	Homo sapiens	Q96IW7	Validated Y2H	32296183
Intra	GJB5	O95377	PNLIPRP1	Homo sapiens	P54315	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

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