Description
gap junction protein, beta 1, 32kDa [Source:HGNC Symbol;Acc:4283]
Gene Synonyms
CMTX, CMTX1, CX32
Location
Chromosome X: 70,435,044-70,445,366 forward strand.
GRCh37:CM000685.1
About this gene
This gene has 4 transcripts (splice variants), 17 paralogues and is associated with 4 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000374022.3 | GJB1-001 | 1904 | 283aa | ENSP00000363134.3 | Protein coding | CCDS14408 | C9JWU8 P08034 | NM_001097642.2 | GENCODE basic, |
ENST00000361726.6 | GJB1-002 | 1637 | 283aa | ENSP00000354900.6 | Protein coding | CCDS14408 | C9JWU8 P08034 | NM_000166.5 | GENCODE basic, |
ENST00000374029.1 | GJB1-003 | 1587 | 283aa | ENSP00000363141.1 | Protein coding | CCDS14408 | C9JWU8 P08034 | - | GENCODE basic, |
ENST00000447581.1 | GJB1-004 | 484 | 84aa | ENSP00000407223.1 | Protein coding | C9JWU8 | - | CDS 3' incomplete, |