Description
gap junction protein, beta 3, 31kDa [Source:HGNC Symbol;Acc:4285]
Gene Synonyms
CX31, DFNA2, DFNA2B, EKV
Location
Chromosome 1: 35,246,790-35,251,970 forward strand.
GRCh37:CM000663.1
About this gene
This gene has 2 transcripts (splice variants), 17 paralogues and is associated with 13 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000373366.2 | GJB3-002 | 2217 | 270aa | ENSP00000362464.2 | Protein coding | CCDS384 | A1YRJ5 O75712 | NM_024009.2 | Ensembl Canonical, GENCODE basic, |
ENST00000373362.3 | GJB3-001 | 1797 | 270aa | ENSP00000362460.3 | Protein coding | CCDS384 | A1YRJ5 O75712 | NM_001005752.1 | GENCODE basic, |