Description
gap junction protein, beta 2, 26kDa [Source:HGNC Symbol;Acc:4284]
Gene Synonyms
CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK
Location
Chromosome 13: 20,761,609-20,767,037 reverse strand.
GRCh37:CM000675.1
About this gene
This gene has 2 transcripts (splice variants), 17 paralogues and is associated with 21 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000382844.1 | GJB2-002 | 2309 | 226aa | ENSP00000372295.1 | Protein coding | CCDS9290 | H9U1J4 P29033 | - | GENCODE basic, |
ENST00000382848.4 | GJB2-001 | 2250 | 226aa | ENSP00000372299.4 | Protein coding | CCDS9290 | H9U1J4 P29033 | NM_004004.5 | GENCODE basic, |