GJA5
entrez
2702
canonical
uniprot
P36382
canonical
ensembl
ENSG00000265107
resolver
ensp
ENSP00000463851
resolver
ensp
ENSP00000484552
resolver
ensp
ENSP00000533588
resolver
ensp
ENSP00000592229
resolver
ensp
ENSP00000626038
resolver
ensp
ENSP00000626039
resolver
ensp
ENSP00000626040
resolver
enst
ENST00000579774
resolver
enst
ENST00000621517
resolver
enst
ENST00000863529
resolver
enst
ENST00000922170
resolver
enst
ENST00000955979
resolver
enst
ENST00000955980
resolver
enst
ENST00000955981
resolver
genesymbol
GJA5
resolver
hgnc
HGNC:4279
resolver
uniprot
A0A024QZ37
resolver
uniprot
Q5T3B6
resolver
uniprot
Q5U0N6
resolver
uniprot
X5D2H9
resolver
uniprot_entry
CXA5_HUMAN
resolver
uniprot_entry
X5D2H9_HUMAN
resolver
uniprot_sec
A0A024QZ37
resolver
uniprot_sec
Q5T3B6
resolver
uniprot_sec
Q5U0N6
resolver
amino_acid_sequence
MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVLQIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIRTTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVKPRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQVRGQEQTPGEGFIQVRYGQKPEVPNGVSPGHRLPHGYHSDKRRLSKASSKARSDDLSV
uniprot
proteins
disease_involvement
DISEASE: Atrial standstill 1 (ATRST1) [MIM:108770]: A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm. {ECO:0000269|PubMed:16790700}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry. A rare GJA5 genotype has been detected in combination with a mutation in SCN5A in a large family with atrial standstill.; DISEASE: Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269|PubMed:20650941}. 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.
uniprot
proteins
mass_dalton
40380
uniprot
proteins
protein_family
Alpha-type (group II) subfamily
uniprot
proteins
protein_family
Connexin family
uniprot
proteins
pubmed
10581143
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16790700
uniprot
proteins
pubmed
20650941
uniprot
proteins
pubmed
7966354
uniprot
proteins
sequence_length
358
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
uniprot
proteins
transmembrane_region
TRANSMEM 20..40; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 77..97; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 165..185; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 206..226; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins