• Gene id: 57165

Gene Summary

• Gene Symbol: GJC2   Gene   UCSC   Ensembl
• Aliases: CX46.6, Cx47, GJA12, HLD2, LMPH1C, LMPHM3, PMLDAR, SPG44
• Gene name: gap junction protein gamma 2
• Alternate names: gap junction gamma-2 protein, connexin-46.6, connexin-47, gap junction alpha-12 protein, gap junction protein, gamma 2, 47kDa,
• Gene location: 1q42.13 (228149929: 228159825)     Exons: 2     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 608803

Protein Summary

• Protein general information: Q5T442  
  • Name: Gap junction gamma 2 protein (Connexin 46.6) (Cx46.6) (Connexin 47) (Cx47) (Gap junction alpha 12 protein)
  • Length: 439  
  • Mass: 47002
  • Tissue specificity: Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles. {ECO
• Sequence:

  MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQPGCDNVCYDAFAPLS
  HVRFWVFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGPRRAPRAHLPPPHAGWPEPADLGEEEPMLGL
  GEEEEEEETGAAEGAGEEAEEAGAEEACTKAVGADGKAAGTPGPTGQHDGRRRIQREGLMRVYVAQLVARAAFEV
  AFLVGQYLLYGFEVRPFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLLLNLCEMAHLGLGSAQDAVRG
  RRGPPASAPAPAPRPPPCAFPAAAAGLACPPDYSLVVRAAERARAHDQNLANLALQALRDGAAAGDRDRDSSPCV
  GLPAASRGPPRAGAPASRTGSATSAGTVGEQGRPGTHERPGAKPRAGSEKGSASSRDGKTTVWI

• Structural information:
  • Interpro: IPR000500  IPR019570  IPR017990  IPR013092  IPR038359  
  • Prosite: PS00407 PS00408
  • STRING: ENSP00000355675
• Other Databases: GeneCards:  GJC2  Malacards:  GJC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005922	connexin complex	IBA	cellular component
GO:0005243	gap junction channel activity	IBA	molecular function
GO:0007267	cell-cell signaling	IBA	biological process
GO:0007154	cell communication	IEA	biological process
GO:0005922	connexin complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	IEA	biological process
GO:1904427	positive regulation of calcium ion transmembrane transport	IEA	biological process
GO:0070447	positive regulation of oligodendrocyte progenitor proliferation	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0043209	myelin sheath	IEA	cellular component
GO:0009636	response to toxic substance	IEA	biological process
GO:0007267	cell-cell signaling	IEA	biological process
GO:0005243	gap junction channel activity	IEA	molecular function
GO:1990769	proximal neuron projection	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0033270	paranode region of axon	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0005921	gap junction	IEA	cellular component
GO:0001932	regulation of protein phosphorylation	IEA	biological process
GO:0005921	gap junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0005921	gap junction	IMP	cellular component
GO:0010644	cell communication by electrical coupling	IMP	biological process
GO:1903763	gap junction channel activity involved in cell communication by electrical coupling	IMP	molecular function

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hypomyelinating leukodystrophy	KEGG:H00679
Hereditary lymphedema	KEGG:H00535
Hereditary spastic paraplegia	KEGG:H00266
Hypomyelinating leukodystrophy	KEGG:H00679
Hereditary lymphedema	KEGG:H00535
Hypomyelinating leukodystrophy 2	PMID:21959080
hereditary spastic paraplegia 44	PMID:19056803
Lymphedema	PMID:21266381
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq