Description
gap junction protein, beta 6, 30kDa [Source:HGNC Symbol;Acc:4288]
Gene Synonyms
CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2
Location
Chromosome 13: 20,796,110-20,806,534 reverse strand.
GRCh37:CM000675.1
About this gene
This gene has 4 transcripts (splice variants), 17 paralogues and is associated with 10 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000356192.6 | GJB6-004 | 2131 | 261aa | ENSP00000348521.6 | Protein coding | CCDS9291 | O95452 | NM_001110219.2 | Ensembl Canonical, GENCODE Basic, |
ENST00000400066.3 | GJB6-003 | 1927 | 261aa | ENSP00000382939.3 | Protein coding | CCDS9291 | O95452 | NM_001110220.2 | GENCODE Basic, |
ENST00000241124.6 | GJB6-001 | 1808 | 261aa | ENSP00000241124.6 | Protein coding | CCDS9291 | O95452 | NM_006783.4 | GENCODE Basic, |
ENST00000400065.3 | GJB6-002 | 1805 | 261aa | ENSP00000382938.3 | Protein coding | CCDS9291 | O95452 | NM_001110221.2 | GENCODE Basic, |