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GJB5

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

GJB5

Identifiers

Aliases

GJB5, CX31.1, gap junction protein beta 5

External IDs

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

Gene location (Human)

Chr.	Chromosome 1 (human)^[1]

Band	1p34.3	Start	34,755,047bp^[1]
Band	1p34.3	End	34,758,512bp^[1]

Gene location (Mouse)

Chr.	Chromosome 4 (mouse)^[2]

Band	4 D2.2\|4 61.51 cM	Start	127,248,602bp^[2]
Band	4 D2.2\|4 61.51 cM	End	127,251,974bp^[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

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)


NM_005268


NM_010291

RefSeq (protein)


NP_005259


NP_034421

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 asconnexin-31.1 (Cx31.1), is aprotein that in humans is encoded by theGJB5gene.^[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 ofconnexin protein subunits, which are encoded by a multigene family.^[5]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000189280 –Ensembl, May 2017
^^a ^b ^cGRCm38: 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 theUnited States National Library of Medicine, which is in thepublic domain.

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