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GJD2

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

GJD2

Available structures

PDB

Ortholog search:PDBe RCSB

List of PDB id codes
2N6A

Identifiers

Aliases

GJD2, CX36, GJA9, gap junction protein delta 2

External IDs

OMIM:607058;MGI:1334209;HomoloGene:7734;GeneCards:GJD2;OMA:GJD2 - orthologs

Gene location (Human)

Chr.	Chromosome 15 (human)^[1]

Band	15q14	Start	34,751,032bp^[1]
Band	15q14	End	34,754,998bp^[1]

Gene location (Mouse)

Chr.	Chromosome 2 (mouse)^[2]

Band	2\|2 E4	Start	113,840,082bp^[2]
Band	2\|2 E4	End	113,844,100bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

islet of Langerhans

gonad

pituitary gland

anterior pituitary

prefrontal cortex

right auricle of heart

body of pancreas

occipital lobe

dorsolateral prefrontal cortex

Brodmann area 9

Top expressed in

thoracic ganglia

islet of Langerhans

neural layer of retina

lumbar subsegment of spinal cord

stellate ganglion

anterior horn of spinal cord

facial motor nucleus

pineal gland

olfactory bulb

retinal pigment epithelium

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	gap junction channel activity
Cellular component	integral component of membrane gap junction cell junction plasma membrane connexin complex membrane
Biological process	action potential cell communication cell-cell signaling visual perception chemical synaptic transmission transmembrane transport
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


57369


14617

Ensembl


ENSG00000159248


ENSMUSG00000068615

UniProt


Q9UKL4


O54851

RefSeq (mRNA)


NM_020660


NM_010290

RefSeq (protein)


NP_065711


NP_034420

Location (UCSC)

Chr 15: 34.75 – 34.75 Mb

Chr 2: 113.84 – 113.84 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Gap junction delta-2 protein (GJD2), also known asconnexin-36 (Cx36) orgap junction alpha-9 protein (GJA9), is aprotein that in humans is encoded by theGJD2gene.^[5]^[6]

Function

[edit]

GJD2, also called connexin-36 (CX36), is a member of the connexin gene family that is expressed predominantly in mammalian neurons. Connexins associate in groups of 6 and are organized radially around a central pore to form connexons. Each gap junction intercellular channel is formed by the conjunction of 2 connexons. SeeGJB2 for additional background information on connexins.^[6]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000159248 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000068615 –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.
^Belluardo N, Trovato-Salinaro A, Mudo G, Hurd YL, Condorelli DF (Oct 1999). "Structure, chromosomal localization, and brain expression of human Cx36 gene".J Neurosci Res.57 (5):740–52.doi:10.1002/(SICI)1097-4547(19990901)57:5<740::AID-JNR16>3.0.CO;2-Z.PMID 10462698.S2CID 496510.
^^a ^b"Entrez Gene: GJA9 gap junction protein, alpha 9, 36kDa".

External links

[edit]

Overview of all the structural information available in thePDB forUniProt:Q9UKL4 (Gap junction delta-2 protein) at thePDBe-KB.

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