GJB5

Protein-coding gene in the species Homo sapiens

GJB5

Identifiers

GJB5 , CX31.1, gap junction protein beta 5

External IDs

OMIM: 604493; MGI: 95723; HomoloGene: 3858; GeneCards: GJB5; OMA:GJB5 - orthologs

Gene location (Human)
Chromosome 1 (human)
Chr.	Chromosome 1 (human) ^[1]
Chromosome 1 (human) Genomic location for GJB5 Genomic location for GJB5
Band	1p34.3	Start	34,755,047 bp ^[1]
Band	1p34.3	End	34,758,512 bp ^[1]

Gene location (Mouse)
Chromosome 4 (mouse)
Chr.	Chromosome 4 (mouse)^[2]
Chromosome 4 (mouse) Genomic location for GJB5 Genomic location for GJB5
Band	4 D2.2\|4 61.51 cM	Start	127,248,602 bp ^[2]
Band	4 D2.2\|4 61.51 cM	End	127,251,974 bp ^[2]

RNA expression pattern

Bgee

Human	Mouse (ortholog)
Top expressed in skin of abdomen skin of leg skin of arm skin of thigh gums gingival epithelium epithelium of esophagus olfactory zone of nasal mucosa oral cavity palpebral conjunctiva	Top expressed in skin of external ear blastocyst lip skin of back tail of embryo skin of abdomen decidua epidermis morula hair follicle
More reference expression data

BioGPS

n/a

Orthologs

Species

Human

Mouse

Entrez


2709


14622

Ensembl


ENSG00000189280


ENSMUSG00000042357

UniProt


O95377


Q02739

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 1: 34.76 – 34.76 Mb

Chr 4: 127.25 – 127.25 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human View/Edit Mouse

Gap junction beta-5 protein (GJB5), also known as connexin-31.1 (Cx31.1), is a protein that in humans is encoded by the GJB5 gene.^[5]

Function

[edit ]

Gap junctions are conduits that allow the direct cell-to-cell passage of small cytoplasmic molecules, including ions, metabolic intermediates, and second messengers, and thereby mediate intercellular metabolic and electrical communication. Gap junction channels consist of connexin protein subunits, which are encoded by a multigene family.^[5]

References

[edit ]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000189280 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000042357 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: gap junction protein".

Canova C, Hashibe M, Simonato L, et al. (2009). "Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project" (PDF). Cancer Res. 69 (7): 2956–65. doi:10.1158/0008-5472.CAN-08-2604 . hdl:2318/104855. PMID 19339270.
Richard G, Smith LE, Bailey RA, et al. (1998). "Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis". Nat. Genet. 20 (4): 366–9. doi:10.1038/3840. PMID 9843209. S2CID 841727.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺: Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻: Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺: Proton channel	HVCN1
M⁺: CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺: TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+ solutes): Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm: Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin

By gating mechanism

Ion channel class	Ligand-gated Light-gated Voltage-gated Stretch-activated

see also disorders

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Function

References

Further reading