2. Gene
  3. GJB5 - gap junction protein beta 5 Gene

GJB5 - gap junction protein beta 5 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference 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

Connexin: Connexin (2 - 107)

(142 - 208)

  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05450 GJB5 Human Pre-designed siRNA Set A Pre-designed Sets / 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