GJC2 (gap junction protein gamma 2) - Rat Genome Database

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Gene: GJC2 (gap junction protein gamma 2) Homo sapiens
Analyze
Symbol: GJC2
Name: gap junction protein gamma 2
RGD ID: 1346209
HGNC Page HGNC:17494
Description: Enables gap junction channel activity involved in cell communication by electrical coupling. Involved in cell communication by electrical coupling. Located in gap junction. Implicated in hereditary lymphedema IC; hereditary spastic paraplegia 44; hypomyelinating leukodystrophy 2; and lymphedema.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: connexin 47; connexin-46.6; connexin-47; connexin46.6; CX46.6; Cx47; gap junction alpha-12 protein; gap junction gamma-2 protein; gap junction protein, gamma 2, 47kDa; GJA12; HLD2; LMPH1C; LMPHM3; MGC105119; PMLDAR; SPG44
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381228,149,930 - 228,159,826 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1228,149,930 - 228,159,826 (+)EnsemblGRCh38hg38GRCh38
GRCh371228,337,631 - 228,347,527 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,404,176 - 226,414,150 (+)NCBINCBI36Build 36hg18NCBI36
Build 341224,644,287 - 224,654,260NCBI
Celera1201,527,795 - 201,537,768 (+)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1198,852,444 - 198,862,502 (+)NCBIHuRef
CHM1_11229,609,739 - 229,619,848 (+)NCBICHM1_1
T2T-CHM13v2.01227,338,927 - 227,348,822 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Original Reference(s)
GJC2Humanamyotrophic lateral sclerosis  ISOGjc2 (Mus musculus)13208591protein:decreased expression:lumbar spinal cord ventral horn and oligodendrocyte (mouse)RGD 
GJC2HumanExperimental Autoimmune Encephalomyelitis  ISOGjc2 (Mus musculus)13208593protein:decreased expression:white matter of spinal cord and gap junction (mouse)RGD 
GJC2Humanhereditary spastic paraplegia 44  IAGP 13208577DNA:missense mutation:cds:p.I33M (human)RGD 
GJC2Humanhypomyelinating leukodystrophy 2  IAGP 13208581DNA:mutations:multiple (human)RGD 
GJC2Humanhypomyelinating leukodystrophy 2  IAGP 13208526DNA:snp:5' utr:c.-167A>G (human)RGD 
GJC2Humanhypomyelinating leukodystrophy 2  IAGP 13208525DNA:missense mutations more ...RGD 
GJC2Humanhypomyelinating leukodystrophy 2  ISOGjc2 (Mus musculus)13208533DNA:missense mutation:cds:p.M282T (mouse)RGD 
GJC2Humanhypomyelinating leukodystrophy 2  IAGP 13208580DNA:missense mutation more ...RGD 
GJC2Humanlymphedema  IAGP 13208590DNA:missense mutations:cds:multiple (human)RGD 
GJC2Humanlymphedema  IAGP 13208589DNA:missense mutations:cds:p.S48L and p.M210R (human)RGD 
GJC2HumanParkinson's disease treatmentISOGjc2 (Rattus norvegicus)13208520 RGD 
GJC2HumanSpinal Cord Injuries treatmentISOGjc2 (Rattus norvegicus)13208513 RGD 
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1 to 20 of 84 rows
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Original Reference(s)
GJC2Humandystonia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: DystoniaClinVarPMID:25741868 and PMID:32581362
GJC2Humangastrointestinal stromal tumor  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Gastrointestinal stromal tumorClinVarPMID:28492532
GJC2Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:22351697 more ...
GJC2Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868
GJC2Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
GJC2Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
GJC2Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:22351697 more ...
GJC2Humangenetic disease  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 and PMID:28492532
GJC2Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 more ...
GJC2Humanhereditary lymphedema IC  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Lymphedema more ...ClinVarPMID:20537300 and PMID:21266381
GJC2Humanhereditary lymphedema IC  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Lymphedema more ...ClinVarPMID:25741868
GJC2Humanhereditary lymphedema IC  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Lymphedema more ...ClinVarPMID:25741868 and PMID:32581362
GJC2Humanhereditary lymphedema IC  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Lymphedema more ...ClinVarPMID:25741868 more ...
GJC2Humanhereditary lymphedema IC  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Lymphedema more ...ClinVarPMID:28492532
GJC2Humanhereditary lymphedema IC  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Lymphedema more ...ClinVarPMID:20537300
GJC2Humanhereditary spastic paraplegia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hereditary spastic paraplegiaClinVarPMID:22351697 more ...
GJC2Humanhereditary spastic paraplegia  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Hereditary spastic paraplegiaClinVarPMID:25741868 and PMID:28492532
GJC2Humanhereditary spastic paraplegia  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Hereditary spastic paraplegiaClinVarPMID:25741868
GJC2Humanhereditary spastic paraplegia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hereditary spastic paraplegiaClinVarPMID:18094336 more ...
GJC2Humanhereditary spastic paraplegia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hereditary spastic paraplegiaClinVarPMID:25741868 more ...
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Original Reference(s)
GJC2Humanhereditary spastic paraplegia 44  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
GJC2Humanhypomyelinating leukodystrophy 2  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:18571143
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Original Reference(s)
GJC2Humanhypomyelinating leukodystrophy 2  ISSGjc2 (Mus musculus)13592920OMIM:608804MouseDO 
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Original Reference(s)
GJC2Humanhereditary lymphedema IC  IAGP 7240710 OMIM 
GJC2Humanhereditary spastic paraplegia 44  IAGP 7240710 OMIM 
GJC2Humanhypomyelinating leukodystrophy 2  IAGP 7240710 OMIM 

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GJC2Human(S)-nicotine increases expressionISOGjc2 (Mus musculus)6480464Nicotine results in increased expression of GJC2 mRNACTDPMID:21955143
GJC2Human2,2',5,5'-tetrachlorobiphenyl decreases expressionISOGjc2 (Rattus norvegicus)64804642 more ...CTDPMID:23829299
GJC2Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISOGjc2 (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of GJC2 mRNACTDPMID:21570461 and PMID:26377647
GJC2Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOGjc2 (Mus musculus)6480464Tetrachlorodibenzodioxin results in decreased expression of GJC2 mRNACTDPMID:33956508
GJC2Human4,4'-sulfonyldiphenol affects methylationISOGjc2 (Mus musculus)6480464bisphenol S affects the methylation of GJC2 geneCTDPMID:31683443
GJC2Human6-propyl-2-thiouracil decreases expressionISOGjc2 (Rattus norvegicus)6480464Propylthiouracil results in decreased expression of GJC2 mRNACTDPMID:24780913 and PMID:25825206
GJC2Human6-propyl-2-thiouracil increases expressionISOGjc2 (Rattus norvegicus)6480464Propylthiouracil results in increased expression of GJC2 mRNACTDPMID:30047161
GJC2Humanacrylamide increases expressionEXP 6480464Acrylamide results in increased expression of GJC2 mRNACTDPMID:32763439
GJC2Humanamitrole increases expressionISOGjc2 (Rattus norvegicus)6480464Amitrole results in increased expression of GJC2 mRNACTDPMID:30047161
GJC2Humanammonium chloride affects expressionISOGjc2 (Rattus norvegicus)6480464Ammonium Chloride affects the expression of GJC2 mRNACTDPMID:16483693
GJC2Humanamphetamine increases expressionISOGjc2 (Rattus norvegicus)6480464Amphetamine results in increased expression of GJC2 mRNACTDPMID:30779732
GJC2Humanantirheumatic drug increases expressionEXP 6480464Antirheumatic Agents results in increased expression of GJC2 mRNACTDPMID:24449571
GJC2Humanaristolochic acid A increases expressionEXP 6480464aristolochic acid I results in increased expression of GJC2 mRNACTDPMID:33212167
GJC2Humanatrazine increases expressionEXP 6480464Atrazine results in increased expression of GJC2 mRNACTDPMID:22378314
GJC2Humanbenzo[a]pyrene decreases expressionISOGjc2 (Rattus norvegicus)6480464Benzo(a)pyrene results in decreased expression of GJC2 mRNACTDPMID:21839799
GJC2Humanbenzo[a]pyrene increases methylationEXP 6480464Benzo(a)pyrene results in increased methylation of GJC2 5' UTR and Benzo(a)pyrene results in increased methylation of GJC2 promoterCTDPMID:27901495
GJC2Humanbenzo[a]pyrene decreases expressionEXP 6480464Benzo(a)pyrene results in decreased expression of GJC2 mRNACTDPMID:26238291
GJC2Humanbisphenol A decreases expressionEXP 6480464bisphenol A results in decreased expression of GJC2 mRNACTDPMID:38568856
GJC2Humanbisphenol A increases expressionISOGjc2 (Mus musculus)6480464bisphenol A results in increased expression of GJC2 mRNACTDPMID:32156529
GJC2Humanbisphenol A decreases expressionISOGjc2 (Mus musculus)6480464bisphenol A results in decreased expression of GJC2 mRNACTDPMID:35598803

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Biological Process
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Cellular Component
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Original Reference(s)
GJC2Humananchoring junction located_inIEAUniProtKB-KW:KW-0965150520179 UniProtGO_REF:0000043
GJC2Humanconnexin complex part_ofIEAInterPro:IPR000500 and InterPro:IPR017990150520179 InterProGO_REF:0000002
GJC2Humanconnexin complex part_ofIBAMGI:2384150 more ...150520179 GO_CentralGO_REF:0000033
GJC2Humangap junction  ISOGjc2 (Rattus norvegicus)9068941 RGDPMID:16203097 and REF_RGD_ID:13208516
GJC2Humangap junction located_inIEAUniProtKB:Q8BQU6 and ensembl:ENSMUSP00000104421150520179 EnsemblGO_REF:0000107
GJC2Humangap junction located_inIMP 150520179 PMID:17344063UniProtPMID:17344063
GJC2Humangap junction located_inIEAUniProtKB-KW:KW-0303150520179 UniProtGO_REF:0000043
GJC2Humangap junction located_inIEAUniProtKB-SubCell:SL-0124150520179 UniProtGO_REF:0000044
GJC2Humanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
GJC2Humanmyelin sheath located_inIEAUniProtKB:Q8BQU6 and ensembl:ENSMUSP00000104421150520179 EnsemblGO_REF:0000107
GJC2Humanneuronal cell body  ISOGjc2 (Rattus norvegicus)9068941 RGDPMID:16203097 and REF_RGD_ID:13208516
GJC2Humanparanode region of axon  ISOGjc2 (Rattus norvegicus)9068941 RGDPMID:16203097 and REF_RGD_ID:13208516
GJC2Humanperikaryon  ISOGjc2 (Rattus norvegicus)9068941 RGDPMID:15293232 and REF_RGD_ID:13208522
GJC2Humanplasma membrane located_inIEAUniProtKB-SubCell:SL-0039150520179 UniProtGO_REF:0000044
GJC2Humanplasma membrane located_inIEAUniProtKB-KW:KW-1003150520179 UniProtGO_REF:0000043
GJC2Humanproximal neuron projection  ISOGjc2 (Rattus norvegicus)9068941 RGDPMID:15293232 and REF_RGD_ID:13208522
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Molecular Function

  
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Original Reference(s)
GJC2Humangap junction channel activity enablesIEAUniProtKB:Q8BQU6 and ensembl:ENSMUSP00000104421150520179 EnsemblGO_REF:0000107
GJC2Humangap junction channel activity enablesIBAMGI:1339969 more ...150520179 GO_CentralGO_REF:0000033
GJC2Humangap junction channel activity involved in cell communication by electrical coupling enablesIMP 150520179 PMID:17344063UniProtPMID:17344063

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Original Reference(s)
GJC2HumanAbnormal auditory evoked potentials  IAGP 8699517 HPOORPHA:320401
GJC2HumanAbnormal facial shape  IAGP 8699517 HPOORPHA:79452
GJC2HumanAbnormal motor evoked potentials  IAGP 8699517 HPOORPHA:320401
GJC2HumanAbnormal venous morphology  IAGP 8699517 HPOORPHA:79452
GJC2HumanAbnormality of somatosensory evoked potentials  IAGP 8699517 HPOORPHA:320401
GJC2HumanAbnormality of visual evoked potentials  IAGP 8699517 HPOORPHA:320401
GJC2HumanAngiosarcoma  IAGP 8699517 HPOORPHA:79452
GJC2HumanAnkle swelling  IAGP 8699517 HPOORPHA:79452
GJC2HumanAtaxia  IAGP 8699517 HPOMIM:613206
GJC2HumanAtaxia  IAGP 8699517 HPOORPHA:320401
GJC2HumanAtaxia  IAGP 8699517 HPOMIM:608804
GJC2HumanAtypical behavior  IAGP 8699517 HPOORPHA:79452
GJC2HumanAutosomal dominant inheritance  IAGP 8699517 HPOMIM:613480
GJC2HumanAutosomal recessive inheritance  IAGP 8699517 HPOMIM:608804
GJC2HumanAutosomal recessive inheritance  IAGP 8699517 HPOMIM:613206
GJC2HumanAxial hypotonia  IAGP 8699517 HPOMIM:608804
GJC2HumanBabinski sign  IAGP 8699517 HPOMIM:608804
GJC2HumanBabinski sign  IAGP 8699517 HPOMIM:613206
GJC2HumanCellulitis  IAGP 8699517 HPOORPHA:79452
GJC2HumanCellulitis  IAGP 8699517 HPOMIM:613480
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1 to 20 of 231 rows
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Original Reference(s)
GJC2HumanAbnormality of the nervous system  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormality of the nervous systemClinVarPMID:18094336 and PMID:25741868
GJC2HumanAbnormality of the nervous system  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormality of the nervous systemClinVarPMID:25741868
GJC2HumanDystonia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: DystoniaClinVarPMID:25741868 and PMID:32581362
GJC2HumanGastrointestinal stroma tumor  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Gastrointestinal stromal tumorClinVarPMID:28492532
GJC2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:25741868 and PMID:32581362
GJC2HumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:25741868
GJC2HumanParathyroid carcinoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Parathyroid carcinomaClinVarPMID:28492532
GJC2HumanSpastic ataxia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic ataxiaClinVarPMID:22833003 more ...
GJC2HumanSpastic paraplegia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:28492532
GJC2HumanSpastic paraplegia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:28492532
GJC2HumanSpastic paraplegia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:28492532
GJC2HumanSpastic paraplegia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:28492532
GJC2HumanSpastic paraplegia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:28492532
GJC2HumanSpastic paraplegia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:28492532
GJC2HumanSpastic paraplegia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:28492532
GJC2HumanSpastic paraplegia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:28492532
GJC2HumanSpastic paraplegia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:28492532
GJC2HumanSpastic paraplegia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:28492532
GJC2HumanSpastic paraplegia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:28492532
GJC2HumanSpastic paraplegia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:28492532
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Reference Title
Reference Citation
1. GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Bugiani M, etal., Neurology. 2006 Jul 25;67(2):273-9. Epub 2006 May 17.
2. Extensive dysregulations of oligodendrocytic and astrocytic connexins are associated with disease progression in an amyotrophic lateral sclerosis mouse model. Cui Y, etal., J Neuroinflammation. 2014 Mar 6;11:42. doi: 10.1186/1742-2094-11-42.
3. GJC2 missense mutations cause human lymphedema. Ferrell RE, etal., Am J Hum Genet. 2010 Jun 11;86(6):943-8. doi: 10.1016/j.ajhg.2010.04.010. Epub 2010 May 27.
4. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Henneke M, etal., Neurology. 2008 Mar 4;70(10):748-54. Epub 2007 Dec 19.
5. Disruption of oligodendrocyte gap junctions in experimental autoimmune encephalomyelitis. Markoullis K, etal., Glia. 2012 Jul;60(7):1053-66. doi: 10.1002/glia.22334. Epub 2012 Mar 27.
6. Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease. Meyer E, etal., Mol Genet Metab. 2011 Dec;104(4):637-43. doi: 10.1016/j.ymgme.2011.08.032. Epub 2011 Sep 8.
7. Adenoviral vector carrying glial cell-derived neurotrophic factor for direct gene therapy in comparison with human umbilical cord blood cell-mediated therapy of spinal cord injury in rat. Mukhamedshina YO, etal., Spinal Cord. 2016 May;54(5):347-59. doi: 10.1038/sc.2015.161. Epub 2015 Sep 29.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Orthmann-Murphy JL, etal., Brain. 2009 Feb;132(Pt 2):426-38. doi: 10.1093/brain/awn328. Epub 2008 Dec 4.
10. Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. Ostergaard P, etal., J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25.
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Nigrostriatal proteomics of cypermethrin-induced dopaminergic neurodegeneration: microglial activation-dependent and -independent regulations. Singh AK, etal., Toxicol Sci. 2011 Aug;122(2):526-38. doi: 10.1093/toxsci/kfr115. Epub 2011 May 10.
15. Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans. Tress O, etal., PLoS Genet. 2011 Jul;7(7):e1002146. doi: 10.1371/journal.pgen.1002146. Epub 2011 Jul 7.
16. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Uhlenberg B, etal., Am J Hum Genet. 2004 Aug;75(2):251-60. Epub 2004 Jun 10.
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PMID:8889548   PMID:12477932   PMID:12805295   PMID:12843301   PMID:15174051   PMID:15489334   PMID:16710414   PMID:16969684   PMID:17031678   PMID:17344063   PMID:18521858   PMID:19423250  
PMID:20120347   PMID:20301682   PMID:21873635   PMID:22283455   PMID:22351697   PMID:22669416   PMID:23142375   PMID:23544880   PMID:23550541   PMID:23684670   PMID:24374284   PMID:24501781  
PMID:27057822   PMID:28298427   PMID:28712094   PMID:28724617   PMID:29276893   PMID:30541963   PMID:32694731   PMID:34994518   PMID:35276347   PMID:36446400   PMID:37189458  



GJC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381228,149,930 - 228,159,826 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1228,149,930 - 228,159,826 (+)EnsemblGRCh38hg38GRCh38
GRCh371228,337,631 - 228,347,527 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,404,176 - 226,414,150 (+)NCBINCBI36Build 36hg18NCBI36
Build 341224,644,287 - 224,654,260NCBI
Celera1201,527,795 - 201,537,768 (+)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1198,852,444 - 198,862,502 (+)NCBIHuRef
CHM1_11229,609,739 - 229,619,848 (+)NCBICHM1_1
T2T-CHM13v2.01227,338,927 - 227,348,822 (+)NCBIT2T-CHM13v2.0
Gjc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391159,066,390 - 59,074,039 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1159,066,394 - 59,074,039 (-)EnsemblGRCm39 Ensembl
GRCm381159,175,564 - 59,183,213 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1159,175,568 - 59,183,213 (-)EnsemblGRCm38mm10GRCm38
MGSCv371158,989,066 - 58,996,715 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361158,991,761 - 58,999,408 (-)NCBIMGSCv36mm8
Celera1163,940,632 - 63,948,320 (-)NCBICelera
Cytogenetic Map11B1.3NCBI
cM Map1137.05NCBI
Gjc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81044,462,203 - 44,470,924 (-)NCBIGRCr8
mRatBN7.21043,962,642 - 43,971,358 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1043,962,642 - 43,970,467 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1048,656,460 - 48,664,272 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01048,146,818 - 48,154,630 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01043,650,415 - 43,658,227 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01045,526,740 - 45,535,520 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1045,526,745 - 45,534,570 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01045,282,830 - 45,291,628 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41045,480,937 - 45,488,651 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1043,225,920 - 43,233,731 (-)NCBICelera
Cytogenetic Map10q22NCBI
Gjc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955581291,537 - 294,752 (-)NCBIChiLan1.0ChiLan1.0
GJC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2121,446,828 - 21,456,976 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1121,385,126 - 21,395,272 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01203,551,556 - 203,561,702 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11208,762,974 - 208,772,229 (+)NCBIpanpan1.1PanPan1.1panPan2
GJC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.114810,388 - 819,248 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl14810,386 - 820,420 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha14332,072 - 340,760 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.014531,302 - 539,994 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.114722,120 - 730,807 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.014502,958 - 511,636 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.014488,819 - 497,515 (-)NCBIUU_Cfam_GSD_1.0
Gjc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721387,727,408 - 87,735,276 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493686469,445 - 70,752 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493686467,608 - 71,543 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GJC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl251,258,207 - 51,267,962 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1251,257,623 - 51,267,969 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2253,844,201 - 53,854,379 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GJC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1251,568,664 - 1,579,279 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl251,569,427 - 1,570,752 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660551,449,049 - 1,451,620 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gjc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624937898,876 - 905,247 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in GJC2
340 total Variants

1 to 10 of 426 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NC_000001.11:g.228149860A>G single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000023738]|Spastic paraplegia [RCV000633051]|not provided [RCV001781305] Chr1:228149860 [GRCh38]
Chr1:228337561 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_020435.4(GJC2):c.989del (p.Pro330fs) deletion Hypomyelinating leukodystrophy 2 [RCV000002154] Chr1:228158745 [GRCh38]
Chr1:228346446 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.914_947del (p.Pro305fs) deletion Hypomyelinating leukodystrophy 2 [RCV000002157]|not provided [RCV001781168] Chr1:228158659..228158692 [GRCh38]
Chr1:228346360..228346393 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.695_696insG (p.Tyr232Ter) insertion Hypomyelinating leukodystrophy 2 [RCV000002158] Chr1:228158453..228158454 [GRCh38]
Chr1:228346154..228346155 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.302G>A (p.Arg101His) single nucleotide variant not provided [RCV000522395] Chr1:228158060 [GRCh38]
Chr1:228345761 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_020435.4(GJC2):c.857T>C (p.Met286Thr) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000002152]|See cases [RCV002287318] Chr1:228158615 [GRCh38]
Chr1:228346316 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.268C>T (p.Pro90Ser) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000002153] Chr1:228158026 [GRCh38]
Chr1:228345727 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_020435.4(GJC2):c.718C>T (p.Arg240Ter) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000002155]|not provided [RCV001723533] Chr1:228158476 [GRCh38]
Chr1:228346177 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.814T>G (p.Tyr272Asp) single nucleotide variant Hypomyelinating leukodystrophy 2 [RCV000002156] Chr1:228158572 [GRCh38]
Chr1:228346273 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_020435.4(GJC2):c.108C>G (p.Ile36Met) single nucleotide variant Hereditary spastic paraplegia 44 [RCV000002159] Chr1:228157866 [GRCh38]
Chr1:228345567 [GRCh37]
Chr1:1q42.13		 pathogenic
1 to 10 of 426 rows

Predicted Target Of
Summary Value
Count of predictions:457
Count of miRNA genes:349
Interacting mature miRNAs:376
Transcripts:ENST00000366714
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

RH80270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,336,398 - 228,336,628UniSTSGRCh37
Build 361226,403,021 - 226,403,251RGDNCBI36
Celera1201,526,640 - 201,526,870RGD
Cytogenetic Map1q32-q41UniSTS
Cytogenetic Map1q42.13UniSTS
HuRef1198,851,427 - 198,851,657UniSTS
GeneMap99-GB4 RH Map1720.67UniSTS
D1S174E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,347,280 - 228,347,503UniSTSGRCh37
Build 361226,413,903 - 226,414,126RGDNCBI36
Celera1201,537,521 - 201,537,744RGD
Cytogenetic Map1q42.13UniSTS
HuRef1198,862,255 - 198,862,478UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2430 2787 2241 4960 1716 2338 4 615 1824 457 2266 7151 6333 52 3727 846 1731 1612 171



Ensembl Acc Id: ENST00000366714   ⟹   ENSP00000355675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,149,930 - 228,159,826 (+)Ensembl
RefSeq Acc Id: NM_020435   ⟹   NP_065168
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,149,930 - 228,159,826 (+)NCBI
GRCh371228,337,415 - 228,347,527 (+)ENTREZGENE
Build 361226,404,176 - 226,414,150 (+)NCBI Archive
HuRef1198,852,444 - 198,862,502 (+)ENTREZGENE
CHM1_11229,609,739 - 229,619,848 (+)NCBI
T2T-CHM13v2.01227,338,927 - 227,348,822 (+)NCBI
Sequence:
1 to 10 of 10 rows
Protein RefSeqs NP_065168 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB94511 (Get FASTA)   NCBI Sequence Viewer  
  AAH35840 (Get FASTA)   NCBI Sequence Viewer  
  AAH89439 (Get FASTA)   NCBI Sequence Viewer  
  AAP37488 (Get FASTA)   NCBI Sequence Viewer  
  ACB87443 (Get FASTA)   NCBI Sequence Viewer  
  EAW69860 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000355675
  ENSP00000355675.2
GenBank Protein Q5T442 (Get FASTA)   NCBI Sequence Viewer  
1 to 10 of 10 rows
RefSeq Acc Id: NP_065168   ⟸   NM_020435
- UniProtKB: Q7Z7J2 (UniProtKB/Swiss-Prot),   O43440 (UniProtKB/Swiss-Prot),   Q8IWJ9 (UniProtKB/Swiss-Prot),   Q5T442 (UniProtKB/Swiss-Prot),   A0A654IBV7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000355675   ⟸   ENST00000366714
Connexin N-terminal   Gap junction protein cysteine-rich

Name Modeler Protein Id AA Range Protein Structure
AF-Q5T442-F1-model_v2 AlphaFold Q5T442 1-439 view protein structure

RGD ID:6785646
Promoter ID:HG_KWN:7688
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000366714
Position:
Human AssemblyChrPosition (strand)Source
Build 361226,403,166 - 226,404,317 (+)MPROMDB
RGD ID:6859240
Promoter ID:EPDNEW_H2760
Type:initiation region
Name:GJC2_2
Description:gap junction protein gamma 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2761  EPDNEW_H2762  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,149,653 - 228,149,713EPDNEW
RGD ID:6859192
Promoter ID:EPDNEW_H2761
Type:initiation region
Name:GJC2_1
Description:gap junction protein gamma 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2762  EPDNEW_H2760  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,149,930 - 228,149,990EPDNEW
RGD ID:6859194
Promoter ID:EPDNEW_H2762
Type:single initiation site
Name:GJC2_3
Description:gap junction protein gamma 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2761  EPDNEW_H2760  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,154,861 - 228,154,921EPDNEW


1 to 35 of 35 rows
Database
Acc Id
Source(s)
COSMIC GJC2 COSMIC
Ensembl Genes ENSG00000198835 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000366714 ENTREZGENE
  ENST00000366714.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1440.80 UniProtKB/Swiss-Prot
GTEx ENSG00000198835 GTEx
HGNC ID HGNC:17494 ENTREZGENE
Human Proteome Map GJC2 Human Proteome Map
InterPro Connexin UniProtKB/Swiss-Prot
  Connexin_CCC UniProtKB/Swiss-Prot
  Connexin_CS UniProtKB/Swiss-Prot
  Connexin_N UniProtKB/Swiss-Prot
  Connexin_N_sf UniProtKB/Swiss-Prot
KEGG Report hsa:57165 UniProtKB/Swiss-Prot
NCBI Gene 57165 ENTREZGENE
OMIM 608803 OMIM
PANTHER GAP JUNCTION GAMMA-2 PROTEIN UniProtKB/Swiss-Prot
  PTHR11984 UniProtKB/Swiss-Prot
Pfam Connexin UniProtKB/Swiss-Prot
PharmGKB PA162389696 PharmGKB
PRINTS CONNEXIN UniProtKB/Swiss-Prot
PROSITE CONNEXINS_1 UniProtKB/Swiss-Prot
  CONNEXINS_2 UniProtKB/Swiss-Prot
SMART CNX UniProtKB/Swiss-Prot
  Connexin_CCC UniProtKB/Swiss-Prot
UniProt A0A654IBV7 ENTREZGENE, UniProtKB/TrEMBL
  B9U3U6_HUMAN UniProtKB/TrEMBL
  CXG2_HUMAN UniProtKB/Swiss-Prot
  O43440 ENTREZGENE
  Q5T442 ENTREZGENE
  Q7Z7J2 ENTREZGENE
  Q8IWJ9 ENTREZGENE
UniProt Secondary O43440 UniProtKB/Swiss-Prot
  Q7Z7J2 UniProtKB/Swiss-Prot
  Q8IWJ9 UniProtKB/Swiss-Prot
1 to 35 of 35 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 GJC2  gap junction protein gamma 2  GJC2  gap junction protein, gamma 2, 47kDa  Symbol and/or name change 5135510 APPROVED