GJC2

From Wikipedia, the free encyclopedia

Gap junction protein, gamma 2, 47kDa

Identifiers

GJC2; CX46.6; Cx47; GJA12; HLD2; LMPH1C; PMLDAR; SPG44

External IDs

OMIM: 608803 MGI: 2153060 HomoloGene: 10715 IUPHAR: Cx47 GeneCards: GJC2 Gene

Gene Ontology
Molecular function	• gap junction channel activity
Cellular component	• connexon complex • integral to membrane • myelin sheath
Biological process	• cell-cell signaling • cell death • response to toxic substance
Sources: Amigo / QuickGO

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 1:
228.34 – 228.35 Mb

Chr 11:
59.18 – 59.18 Mb

PubMed search

Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.^[1]

Function

This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans.^[1]

Clinical significance

Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1.^[1]

References

↑ 1.0 1.1 1.2 "Entrez Gene: gap junction protein".

Ostergaard P, Simpson MA, Brice G, et al. (2011). "Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.". J. Med. Genet. 48 (4): 251–5. doi:10.1136/jmg.2010.085563. PMID 21266381.
Odermatt B, Wellershaus K, Wallraff A, et al. (2003). "Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.". J. Neurosci. 23 (11): 4549–59. PMID 12805295.
Menichella DM, Goodenough DA, Sirkowski E, et al. (2003). "Connexins are critical for normal myelination in the CNS.". J. Neurosci. 23 (13): 5963–73. PMID 12843301.
Salviati L, Trevisson E, Baldoin MC, et al. (2007). "A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.". Neurogenetics 8 (1): 57–60. doi:10.1007/s10048-006-0065-x. PMID 17031678.
Ferrell RE, Baty CJ, Kimak MA, et al. (2010). "GJC2 missense mutations cause human lymphedema.". Am. J. Hum. Genet. 86 (6): 943–8. doi:10.1016/j.ajhg.2010.04.010. PMID 20537300.
Uhlenberg B, Schuelke M, Rüschendorf F, et al. (2004). "Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.". Am. J. Hum. Genet. 75 (2): 251–60. doi:10.1086/422763. PMC 1216059. PMID 15192806.
Orthmann-Murphy JL, Salsano E, Abrams CK, et al. (2009). "Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.". Brain 132 (Pt 2): 426–38. doi:10.1093/brain/awn328. PMID 19056803.
Wang J, Wang H, Wang Y, et al. (2010). "Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease.". Brain Dev. 32 (3): 236–43. doi:10.1016/j.braindev.2009.03.013. PMID 19423250.
Henneke M, Combes P, Diekmann S, et al. (2008). "GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.". Neurology 70 (10): 748–54. doi:10.1212/01.wnl.0000284828.84464.35. PMID 18094336.
Orthmann-Murphy JL, Enriquez AD, Abrams CK, Scherer SS (2007). "Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.". Mol. Cell. Neurosci. 34 (4): 629–41. doi:10.1016/j.mcn.2007.01.010. PMID 17344063.
Ruf N, Uhlenberg B (2009). "Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease.". Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (2): 226–32. doi:10.1002/ajmg.b.30792. PMID 18521858.
Wolf NI, Cundall M, Rutland P, et al. (2007). "Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.". Neurogenetics 8 (1): 39–44. doi:10.1007/s10048-006-0062-0. PMID 16969684.
Ishikawa T, Sato K, Shimazaki R, et al. (2010). "[A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype].". Rinsho Shinkeigaku 50 (1): 7–11. PMID 20120347.

This article incorporates text from the United States National Library of Medicine, which is in the public 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	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⁺: 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
B memb: cead, trns (1A, 1C, 1F, 2A, 3A1, 3A2-3, 3D), other

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GJC2

Function

Clinical significance

References

Further reading