GJC2 | ENSG00000198835 | NCBI 57165

Details for: GJC2

Gene ID: 57165

Symbol: GJC2

Ensembl ID: ENSG00000198835

Description: gap junction protein gamma 2

Associated with

Gap junction assembly
(R-HSA-190861)
Gap junction trafficking
(R-HSA-190828)
Gap junction trafficking and regulation
(R-HSA-157858)
Membrane trafficking
(R-HSA-199991)
Vesicle-mediated transport
(R-HSA-5653656)
Cell-cell signaling
(GO:0007267)
Cell communication by electrical coupling
(GO:0010644)
Connexin complex
(GO:0005922)
Gap junction
(GO:0005921)
Gap junction channel activity
(GO:0005243)
Gap junction channel activity involved in cell communication by electrical coupling
(GO:1903763)
Myelin sheath
(GO:0043209)
Negative regulation of g1/s transition of mitotic cell cycle
(GO:2000134)
Paranode region of axon
(GO:0033270)
Perikaryon
(GO:0043204)
Positive regulation of calcium ion transmembrane transport
(GO:1904427)
Positive regulation of gene expression
(GO:0010628)
Positive regulation of oligodendrocyte progenitor proliferation
(GO:0070447)
Proximal neuron projection
(GO:1990769)
Regulation of protein phosphorylation
(GO:0001932)
Response to toxic substance
(GO:0009636)
Transmembrane transport
(GO:0055085)

Other Information

Proteins

Gap junction gamma-2 protein

Genular Protein ID: 2800214376

Symbol: CXG2_HUMAN

Name: Gap junction gamma-2 protein

UniProtKB Accession Codes:

Q5T442 O43440 Q7Z7J2 Q8IWJ9

Database IDs:

Citations:

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15192806

Title: Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

PubMed ID: 15192806

DOI: 10.1086/422763

PubMed ID: 19056803

Title: Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

PubMed ID: 19056803

DOI: 10.1093/brain/awn328

PubMed ID: 20537300

Title: GJC2 missense mutations cause human lymphedema.

PubMed ID: 20537300

DOI: 10.1016/j.ajhg.2010.04.010

Sequence Information:

Length: 439
Mass: 47002
Checksum: 09725B5DC476672A
Sequence:

MTNMSWSFLT RLLEEIHNHS TFVGKVWLTV LVVFRIVLTA VGGEAIYSDE QAKFTCNTRQ 
PGCDNVCYDA FAPLSHVRFW VFQIVVISTP SVMYLGYAVH RLARASEQER RRALRRRPGP 
RRAPRAHLPP PHAGWPEPAD LGEEEPMLGL GEEEEEEETG AAEGAGEEAE EAGAEEACTK 
AVGADGKAAG TPGPTGQHDG RRRIQREGLM RVYVAQLVAR AAFEVAFLVG QYLLYGFEVR 
PFFPCSRQPC PHVVDCFVSR PTEKTVFLLV MYVVSCLCLL LNLCEMAHLG LGSAQDAVRG 
RRGPPASAPA PAPRPPPCAF PAAAAGLACP PDYSLVVRAA ERARAHDQNL ANLALQALRD 
GAAAGDRDRD SSPCVGLPAA SRGPPRAGAP ASRTGSATSA GTVGEQGRPG THERPGAKPR 
AGSEKGSASS RDGKTTVWI

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: GJC2

Associated with

Other Information

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. PubMed ID: 15192806