GJC2
entrez
57165
canonical
uniprot
Q5T442
canonical
ensembl
ENSG00000198835
resolver
ensp
ENSP00000355675
resolver
ensp
ENSP00000556919
resolver
ensp
ENSP00000633981
resolver
enst
ENST00000366714
resolver
enst
ENST00000886860
resolver
enst
ENST00000963922
resolver
genesymbol
GJC2
resolver
genesymbol_syn
GJA12
resolver
hgnc
HGNC:17494
resolver
uniprot
O43440
resolver
uniprot
Q7Z7J2
resolver
uniprot
Q8IWJ9
resolver
uniprot_entry
CXG2_HUMAN
resolver
uniprot_sec
O43440
resolver
uniprot_sec
Q7Z7J2
resolver
uniprot_sec
Q8IWJ9
resolver
amino_acid_sequence
MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQPGCDNVCYDAFAPLSHVRFWVFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGPRRAPRAHLPPPHAGWPEPADLGEEEPMLGLGEEEEEEETGAAEGAGEEAEEAGAEEACTKAVGADGKAAGTPGPTGQHDGRRRIQREGLMRVYVAQLVARAAFEVAFLVGQYLLYGFEVRPFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLLLNLCEMAHLGLGSAQDAVRGRRGPPASAPAPAPRPPPCAFPAAAAGLACPPDYSLVVRAAERARAHDQNLANLALQALRDGAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSAGTVGEQGRPGTHERPGAKPRAGSEKGSASSRDGKTTVWI
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804]: An autosomal recessive hypomyelinating leukodystrophy with symptoms of Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity. {ECO:0000269|PubMed:15192806}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 44, autosomal recessive (SPG44) [MIM:613206]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:19056803}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Lymphatic malformation 3 (LMPHM3) [MIM:613480]: A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM3 is an autosomal dominant form with variable severity and reduced penetrance. Affected individuals manifest lymphedema of the lower limbs and some patients have lymphedema of the hands. {ECO:0000269|PubMed:20537300}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 nervous systems. {ECO:0000269|PubMed:15192806}.
uniprot
proteins
mass_dalton
47002
uniprot
proteins
protein_family
Connexin family
uniprot
proteins
protein_family
Gamma-type subfamily
uniprot
proteins
pubmed
15192806
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19056803
uniprot
proteins
pubmed
20537300
uniprot
proteins
sequence_length
439
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
uniprot
proteins
transmembrane_region
TRANSMEM 26..46; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 79..99; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 217..237; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 266..286; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins