GJD2

Gap junction protein, delta 2, 36kDa

Identifiers

GJD2 ; CX36; GJA9

External IDs

OMIM: 607058 MGI: 1334209 HomoloGene: 7734 IUPHAR: 724 GeneCards: GJD2 Gene

Gene ontology
Molecular function	• gap junction channel activity
Cellular component	• plasma membrane • connexon complex • integral component of membrane
Biological process	• action potential • synaptic transmission • visual perception • transmembrane transport
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 15:
34.75 – 34.75 Mb

Chr 2:
114.01 – 114.01 Mb

PubMed search

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

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

↑ 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.
1 2 "Entrez Gene: GJA9 gap junction protein, alpha 9, 36kDa".

Andrew L Harris and Darren Locke (2009). Connexins, A Guide. New York: Springer. p. 574. ISBN 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.
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.
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.

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

This article is issued from Wikipedia - version of the Wednesday, May 06, 2015. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.

GJD2

Function

References

Further reading