Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57165
Gene name	Gap junction protein gamma 2
Gene symbol	GJC2
Synonyms (NCBI Gene)	CX46.6Cx47GJA12HLD2LMPH1CLMPHM3PMLDARSPG44
Chromosome	1
Chromosome location	1q42.13
Summary	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 involv

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SNP ID	Visualize variation	Clinical significance	Consequence
rs74315311	T>C	Pathogenic	Missense variant, coding sequence variant
rs74315312	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315313	C>T	Pathogenic	Stop gained, coding sequence variant
rs74315314	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs75469429	C>A,G,T	Benign, pathogenic, benign-likely-benign	Missense variant, coding sequence variant, synonymous variant
rs267606846	C>T	Pathogenic	Missense variant, coding sequence variant
rs267606847	C>T	Pathogenic	Missense variant, coding sequence variant
rs375318012	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs397514734	G>A	Pathogenic	Coding sequence variant, missense variant
rs587776888	A>G	Pathogenic	Upstream transcript variant
rs587777496	A>G	Pathogenic	Upstream transcript variant
rs760502262	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs796065027	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs796065028	CGGCCTCCGCCCCCGCCCCCGCGCCGCGGCCCCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs796065029	->G	Pathogenic	Coding sequence variant, stop gained
rs878853083	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs886039904	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057521990	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793505	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064794912	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795865	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064795867	GCCGCGCGCCCCGAGCGCACCTGCCGCCCCCGCACGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307499	->GC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1196278287	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1330596542	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1356633840	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1455411788	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553262429	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553262430	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553262438	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1558119445	->AC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571907365	TC>AA	Pathogenic	Coding sequence variant, stop gained
rs1571907430	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571908452	TGCGGCCTCCC>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT004225	hsa-miR-346	Microarray	16822819
MIRT1019971	hsa-miR-1909	CLIP-seq
MIRT1019972	hsa-miR-298	CLIP-seq
MIRT1019973	hsa-miR-3136-3p	CLIP-seq
MIRT1019974	hsa-miR-3144-5p	CLIP-seq
MIRT1019975	hsa-miR-3155	CLIP-seq
MIRT1019976	hsa-miR-3155b	CLIP-seq
MIRT1019977	hsa-miR-3191	CLIP-seq
MIRT1019978	hsa-miR-3678-3p	CLIP-seq
MIRT1019979	hsa-miR-4267	CLIP-seq
MIRT1019980	hsa-miR-4292	CLIP-seq
MIRT1019981	hsa-miR-4308	CLIP-seq
MIRT1019982	hsa-miR-4421	CLIP-seq
MIRT1019983	hsa-miR-4493	CLIP-seq
MIRT1019984	hsa-miR-4652-5p	CLIP-seq
MIRT1019985	hsa-miR-4667-3p	CLIP-seq
MIRT1019986	hsa-miR-4684-3p	CLIP-seq
MIRT1019987	hsa-miR-484	CLIP-seq
MIRT1019988	hsa-miR-498	CLIP-seq
MIRT1019989	hsa-miR-583	CLIP-seq
MIRT2002024	hsa-miR-4641	CLIP-seq
MIRT1019980	hsa-miR-4292	CLIP-seq

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Transcription factor	Regulation	Reference
SOX10	Unknown	20695017

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005243	Function	Gap junction channel activity	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005921	Component	Gap junction	IEA
GO:0005921	Component	Gap junction	IMP	17344063
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0010644	Process	Cell communication by electrical coupling	IMP	17344063
GO:0016020	Component	Membrane	IEA
GO:0043209	Component	Myelin sheath	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:1903763	Function	Gap junction channel activity involved in cell communication by electrical coupling	IMP	17344063

MIM	HGNC	e!Ensembl
608803	17494	ENSG00000198835

Q5T442

Protein name

Gap junction gamma-2 protein (Connexin-46.6) (Cx46.6) (Connexin-47) (Cx47) (Gap junction alpha-12 protein)

Protein function

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 nerv

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00029	Connexin	5 → 291	Connexin	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles. {ECO:0000269|PubMed:15192806}.

Sequence

MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQ
PGCDNVCYDAFAPLSHVRFWVFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGP
RRAPRAHLPPPHAGWPEPADLGEEEPMLGLGEEEEEEETGAAEGAGEEAEEAGAEEACTK
AVGADGKAAGTPGPTGQHDGRRRIQREGLMRVYVAQLVARAAFEVAFLVGQYLLYGFEVR
PFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLLLNLCEMAHLGLGSAQDAVRG
RRGPPASAPAPAPRPPPCAFPAAAAGLACPPDYSLVVRAAERARAHDQNLANLALQALRD
GAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSAGTVGEQGRPGTHERPGAKPR
AGSEKGSASSRDGKTTVWI

Sequence length

439

Interactions

View interactions

	Reactome
			Gap junction assembly

355

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs2124966664, rs1085307499	RCV001814360 RCV001814162
GJC2-related disorder	Likely pathogenic; Pathogenic	rs1571908452	RCV004758054
Hereditary spastic paraplegia 44	Pathogenic; Likely pathogenic	rs2124967068, rs75469429, rs587776888, rs1571908452, rs758571008	RCV003227526 RCV000002159 RCV005867796 RCV001335054 RCV001196363
Hypomyelinating leukodystrophy 2	Pathogenic; Likely pathogenic	rs2124966088, rs2124966117, rs2124966664, rs2124966280, rs2124966655, rs2124966375, rs74315311, rs74315312, rs796065027, rs74315313, rs74315314, rs796065028, rs796065029, rs878853083, rs886039904 View all (13 more)	RCV001647229 RCV001647230 RCV001849194 RCV001824213 RCV001824214 RCV002052015 RCV000002152 RCV000002153 RCV000002154 RCV000002155 RCV000002156 RCV000002157 RCV000002158 RCV004691112 RCV000256421 RCV003484509 RCV000023738 RCV004698342 RCV004691239 RCV002250639 RCV000504277 RCV000986563 RCV000054496 RCV006269275 RCV001090093 RCV001249465 RCV001249464 RCV001261412 RCV001263436
Lymphatic malformation 3	Pathogenic; Likely pathogenic	rs267606847, rs267606846, rs2527857747, rs1571908452	RCV000002160 RCV000002161 RCV005860340 RCV005860156
Pelizaeus-Merzbacher disease	Likely pathogenic; Pathogenic	rs1455411788	RCV000790418
See cases	Pathogenic	rs74315311	RCV002287318
Spastic paraplegia	Pathogenic; Likely pathogenic	rs2124966792, rs2124967068, rs2527857747, rs2527875902, rs2527875494, rs2527875152, rs587776888, rs1553262438, rs1558119445, rs1455411788, rs1571908452	RCV002037972 RCV001902187 RCV002634353 RCV002820147 RCV003026170 RCV003588128 RCV000633051 RCV000633039 RCV000692464 RCV002536883 RCV000813174

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs6704220	RCV005916970
Cervical cancer	Benign	rs6704220	RCV005916971
Dystonic disorder	Conflicting classifications of pathogenicity	rs1571907430	RCV001003945
Hereditary spastic paraplegia	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs148764840, rs78587210, rs45491398, rs1052534, rs752282539, rs534573391, rs1417076615, rs754261952, rs757481205, rs372240320, rs759727327, rs760502262, rs75469429, rs746050475, rs116557768 View all (4 more)	RCV001847290 RCV001847311 RCV001847317 RCV001848445 RCV001848446 RCV001848447 RCV001848448 RCV001848449 RCV001848450 RCV001848451 RCV001848453 RCV001847952 RCV001847953 RCV001848001 RCV001848002 RCV001848000 RCV001848037 RCV001848882 RCV001849133
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign	rs1571907430, rs2034719630	RCV000850195 RCV001252004
Lung cancer	Benign	rs6704220	RCV005916974
Ovarian serous cystadenocarcinoma	Benign	rs6704220	RCV005916972
Spastic ataxia	Conflicting classifications of pathogenicity	rs375288744	RCV001647154
Uterine carcinosarcoma	Benign	rs6704220	RCV005916973

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	23243219
Barrett Esophagus	Associate	23243219
Breast Neoplasms	Associate	22351697
Carcinogenesis	Associate	23243219
Demyelinating Autoimmune Diseases CNS	Associate	19056803
Demyelinating Diseases	Associate	15192806, 25059390, 29451896
Leukodystrophy Hypomyelinating 2	Associate	15192806, 18571143, 19056803, 22283455, 22669416, 24374284, 25059390, 28905880, 34840390
Leukodystrophy Metachromatic	Associate	25059390, 40594583
Leukoencephalopathies	Associate	19056803, 39232641
Lymphedema	Associate	22351697
Multiple Sclerosis	Associate	23991165
Nervous System Diseases	Associate	22669416
Nystagmus Congenital	Associate	22669416
Paraplegia	Associate	19056803, 39232641
Pelizaeus Merzbacher Disease	Associate	22283455
Retinal Dysplasia	Associate	23243219
Spastic Paraplegia Hereditary	Associate	19056803, 25059390, 39232641

GJC2 (gap junction protein gamma 2)