Gjd2

Gap junction protein, delta 2, 36kDa

Identifiers

GJD2; CX36; GJA9

External IDs

OMIM: 607058 MGI: 1334209 HomoloGene: 7734 IUPHAR: Cx36 GeneCards: GJD2 Gene

Gene Ontology
Molecular function	• gap junction channel activity • gap junction channel activity
Cellular component	• plasma membrane • gap junction • connexon complex • integral to membrane • cell junction
Biological process	• regulation of action potential • cell communication • synaptic transmission • visual perception
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 15:
35.04 – 35.05 Mb

Chr 2:
113.84 – 113.84 Mb

PubMed search

[1]

[2]

Gap junction delta-2 protein (GJD2) also known as connexin-36 (Cx36) or gap junction alpha-9 protein (GJA9) and is a protein that in humans is encoded by the GJD2 gene.^[1]^[2]

Function [link]

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. See GJB2 for additional background information on connexins.^[2]

References [link]

^ 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.
^ ^a ^b "Entrez Gene: GJA9 gap junction protein, alpha 9, 36kDa". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57369.

Further reading [link]

Andrew L Harris and Darren Locke (2009). Connexins, A Guide. New York: Springer. pp. 574. ISBN 978-1-934115-46-6. https://www.springer.com/978-1-934115-46-6.
de Brouwer AP, Pennings RJ, Roeters M, et al. (2003). "Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.". Hum. Genet. 112 (2): 156–63. DOI:10.1007/s00439-002-0833-0. PMID 12522556.
Martin D, Tawadros T, Meylan L, et al. (2004). "Critical role of the transcriptional repressor neuron-restrictive silencer factor in the specific control of connexin36 in insulin-producing cell lines.". J. Biol. Chem. 278 (52): 53082–9. DOI:10.1074/jbc.M306861200. PMID 14565956.
Bathelier C, François M, Lucotte G (2004). "Neonatal detection of the 35delG mutation of the GJB2 gene in families at risk for deafness.". Genet. Couns. 15 (1): 61–6. PMID 15083701.
Degen J, Meier C, Van Der Giessen RS, et al. (2004). "Expression pattern of lacZ reporter gene representing connexin36 in transgenic mice.". J. Comp. Neurol. 473 (4): 511–25. DOI:10.1002/cne.20085. PMID 15116387.
Mas C, Taske N, Deutsch S, et al. (2004). "Association of the connexin36 gene with juvenile myoclonic epilepsy.". J. Med. Genet. 41 (7): e93. DOI:10.1136/jmg.2003.017954. PMC 1735851. PMID 15235036. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1735851.
Dobrenis K, Chang HY, Pina-Benabou MH, et al. (2006). "Human and mouse microglia express connexin36, and functional gap junctions are formed between rodent microglia and neurons.". J. Neurosci. Res. 82 (3): 306–15. DOI:10.1002/jnr.20650. PMC 2583240. PMID 16211561. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2583240.
Hempelmann A, Heils A, Sander T (2006). "Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy.". Epilepsy Res. 71 (2-3): 223–8. DOI:10.1016/j.eplepsyres.2006.06.021. PMID 16876983.
Aleksic B, Ishihara R, Takahashi N, et al. (2007). "Gap junction coding genes and schizophrenia: a genetic association study.". J. Hum. Genet. 52 (6): 498–501. DOI:10.1007/s10038-007-0142-5. PMID 17427027.

This article on a gene on chromosome 15 is a stub. You can help Wikipedia by expanding it.

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

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)

Ligand-gated	Inositol trisphosphate receptor (1, 2, 3) · Ryanodine receptor (1, 2, 3)

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

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

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)

Other

Cl^-: Chloride channel	ANO1 · Bestrophin (1, 2) · CFTR · CLCA (1, 2, 3, 4) · CLCN (1, 2, 3, 4, 5, 6, 7, KA, KB) · CLIC (1, 2, 3, 4, 5, 6, L1) · CLNS (1A, 1B)

H⁺: Voltage-gated	HVCN1

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)

Cyclic nucleotide-gated (FC)	α (1, 2, 3, 4) · β (1, 2, 3) · HCN (1, 2, 3, 4)

Porin	Aquaporin (0, 1, 2, 3, 4, 5, 6, 7, 8, 9) · Voltage-dependent anion channel (1, 2, 3) · General bacterial porin family

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

General	Ligand-gated ion channel · Voltage-gated ion channel · Stretch-activated ion channel

see also disorders
B memb: cead, trns (1A, 1C, 1F, 2A, 3A1, 3A2-3, 3D), othr

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Function [link]

References [link]

Further reading [link]

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