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GJD4

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

GJD4

Identifiers

Aliases

GJD4, CX40.1, gap junction protein delta 4

External IDs

OMIM:611922;MGI:2444990;HomoloGene:17692;GeneCards:GJD4;OMA:GJD4 - orthologs

Gene location (Human)

Chr.	Chromosome 10 (human)^[1]

Band	10p11.21	Start	35,605,341bp^[1]
Band	10p11.21	End	35,608,935bp^[1]

Gene location (Mouse)

Chr.	Chromosome 18 (mouse)^[2]

Band	18\|18 A1	Start	9,278,607bp^[2]
Band	18\|18 A1	End	9,282,809bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

gonad

apex of heart

prefrontal cortex

ventricle of the heart

left ventricle

human musculoskeletal system

dorsolateral prefrontal cortex

Brodmann area 9

muscular system

muscle

Top expressed in

tongue muscle

muscle of trunk

thoracic diaphragm

neural tube

autopod region

paraxial mesoderm

foot

hand

foregut

muscle of upper limb

More reference expression data

BioGPS

n/a

Orthologs

Species

Human

Mouse

Entrez


219770


225152

Ensembl


ENSG00000177291


ENSMUSG00000036855

UniProt


Q96KN9


Q8BSD4

RefSeq (mRNA)


NM_153368


NM_153086

RefSeq (protein)


NP_699199


NP_694726

Location (UCSC)

Chr 10: 35.61 – 35.61 Mb

Chr 18: 9.28 – 9.28 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Gap junction delta-4 protein (GJD4), also known asconnexin-40.1 (Cx40.1), is aprotein that in humans is encoded by theGJD4gene.^[5]

Function

[edit]

Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits.^[5]^[6]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000177291 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000036855 –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".
^Söhl G, Nielsen PA, Eiberger J, Willecke K (2003). "Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues".Cell Commun. Adhes.10 (1):27–36.doi:10.1080/15419060302063.PMID 12881038.S2CID 225894.

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

By gating mechanism

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

see alsodisorders

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