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Tbio Gap junction gamma-2 protein

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a role in myelination in central and peripheral nervous systems.

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. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]

 Comments

Property Summary

NCBI Gene PubMed Count 28
PubMed Score 85.00
PubTator Score 51.63

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count P-value
psoriasis 6685 7.5e-25
lung adenocarcinoma 2714 6.9e-07
breast carcinoma 1614 6.8e-06
pediatric high grade glioma 2712 2.0e-05

Expression

  Differential Expression (4)

Disease log2 FC p
breast carcinoma -1.100 6.8e-06
pediatric high grade glioma -1.100 2.0e-05
lung adenocarcinoma -1.100 6.9e-07
psoriasis -1.200 7.5e-25

Synonym

Accession Q5T442 O43440 Q7Z7J2 Q8IWJ9
Symbols Cx47
HLD2
GJA12
SPG44
CX46.6
LMPH1C
PMLDAR

Gene

GJC2

PANTHER Protein Class (2)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (13)

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 GO Function (1)

 GO Component (3)

 GO Process (2)

 Compartment GO Term (13)

 OMIM Phenotype (3)

 MGI Phenotype (8)

 HCA RNA Cell Line (56)

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Pathway (7)

Gene RIF (19)

PMID Text
24374284 GJC2 promoter region mutation screening should be included in the evaluation of patients with unexplained hypomyelinating leukodystrophies.
23684670 a novel homozygous mutation in GJC2 was identified in a 21-year-old female patient with Pelizaeus-Merzbacher-like disease
23550541 we provide evidence that a mutation in GJA1 leads not only to ODD as already described in the literature, but can also lead to lymphoedema as an associated feature.
23544880 Most of the Pelizaeus-Merzbacher-like disease (PMLD)-linked Cx47 mutants disrupt Cx47/Cx47 and Cx47/Cx43 GJ function in the glial network, which may play a role in leading to PMLD symptoms
23142375 founder mutation c.-167A>G localized in the GJC2 protein promoter region in patients with Pelizaeus Merzbacher disease and Pelizaeus Merzbacher like disease
22669416 the extremely severe clinical Pelizaeus-Merzbacher-like disease form likely correlates with the predicted impairment of gap junction channel assembly resulting from the detrimental effect of the new p.Glu260Lys mutant allele on Cx47 protein
22351697 Cx47 mutations were identified in individuals having secondary lymphedema following breast cancer treatment; these novel mutations are dysfunctional and provide evidence that altered gap junction function leads to lymphedema
22283455 This study identified novel chromosomal rearrangements proximal and distal to, and exclusive of the PLP1 gene, showed equal frequencies of PLP1 and GJA12/GJC2 mutations
21959080 We report the identification of the GJC2 promoter mutation (c.-167A>G) in nine patients from three unrelated Pakistani families with Pelizaeus-Merzbacher-like disease. Linkage analysis was consistent with a likely founder effect of this mutation
21266381 Mutations within the GJC2 gene are associated with primary lymphoedema.
20537300 The identification of GJC2 mutations as a cause of primary lymphedema
20120347 She carried no GJA12 mutations. These facts suggested that this disease is a novel, autosomal recessive hypomyelinating leukodystrophy.
19423250 GJA12 gene mutations reported from two Chinese Pelizaeus-Merzbacher-like disease patients
19056803 GJA12/GJC2 mutations can result in a milder phenotype than previously appreciated, but whether I33M retains a function of Cx47 not directly related to forming functional gap junction channels is not known.
18521858 GJA12 alterations are a rare cause of Pelizaeus-Merzbacher-like disease even after extending the screening for copy number variation and for mutations in the non-coding region of GJA12.
18094336 The clinical phenotype of patients with a GJA12 mutation was evaluated and is overall comparable to the clinical features seen in mild forms of PLP1-related disorder but with better cognition and earlier signs of axonal degeneration.
17344063 study shows the Cx47 mutants associated with Pelizaeus-Merzbacher-like disease likely disrupt the gap junction coupling between astrocytes and oligodendrocytes
17031678 GJA12 mutations are the initiaial genetic test in patients with consanguineous parents with Pelizaeus-Merzbacher-like disease.
16969684 Patients from one family carrying a homozygous frameshift mutation in GJA12 presenting with nystagmus and brain demyelinating disease.

AA Sequence 

MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQPGCDNVCYDA      1 - 70
FAPLSHVRFWVFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGPRRAPRAHLPPPHAGWPEPAD     71 - 140
LGEEEPMLGLGEEEEEEETGAAEGAGEEAEEAGAEEACTKAVGADGKAAGTPGPTGQHDGRRRIQREGLM    141 - 210
RVYVAQLVARAAFEVAFLVGQYLLYGFEVRPFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLL    211 - 280
LNLCEMAHLGLGSAQDAVRGRRGPPASAPAPAPRPPPCAFPAAAAGLACPPDYSLVVRAAERARAHDQNL    281 - 350
ANLALQALRDGAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSAGTVGEQGRPGTHERPGAKPR    351 - 420
AGSEKGSASSRDGKTTVWI                                                       421 - 439
//

Text Mined References (26)

PMID Year Title
24374284 2014 GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.
23684670 2013 A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease.
23550541 2013 A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.
23544880 2013 The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions.
23142375 2013 Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.
22669416 2013 Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.
22351697 2012 Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.
22283455 2013 High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
21959080 2011 Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
21266381 2011 Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
20537300 2010 GJC2 missense mutations cause human lymphedema.
20120347 2010 [A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype].
19423250 2010 Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease.
19056803 2009 Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
18521858 2009 Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease.
18094336 2008 GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
17344063 2007 Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.
17031678 2007 A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.
16969684 2007 Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15192806 2004 Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
12843301 2003 Connexins are critical for normal myelination in the CNS.
12805295 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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.