Description
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) [Source:HGNC Symbol;Acc:10805]
Gene Synonyms
50-DAG, A2, ADL, DAG2, DMDA2, LGMD2D, SCARMD1, adhalin
Location
Chromosome 17: 48,241,575-48,253,292 forward strand.
GRCh37:CM000679.1
About this gene
This gene has 13 transcripts (splice variants), 1 paralogue and is associated with 2 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000262018.3 | SGCA-001 | 1432 | 387aa | ENSP00000262018.3 | Protein coding | CCDS32679 | Q16586 | NM_000023.2 | Ensembl Canonical, GENCODE basic, |
ENST00000451235.2 | SGCA-201 | 1349 | 178aa | ENSP00000390371.2 | Protein coding | B7Z1L1 | - | GENCODE basic, | |
ENST00000543315.1 | SGCA-202 | 1060 | 263aa | ENSP00000444539.1 | Protein coding | F5GZD3 | - | GENCODE basic, | |
ENST00000344627.6 | SGCA-002 | 1057 | 263aa | ENSP00000345522.6 | Protein coding | CCDS45729 | Q16586 | NM_001135697.1 | GENCODE basic, |
ENST00000504073.1 | SGCA-011 | 696 | 160aa | ENSP00000422030.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000511303.1 | SGCA-008 | 668 | 196aa | ENSP00000426104.1 | Protein coding | H7C5V0 | - | CDS 5' incomplete, | |
ENST00000502555.1 | SGCA-004 | 1349 | 61aa | ENSP00000422817.1 | Nonsense mediated decay | D6RAA4 | - | - | |
ENST00000513821.1 | SGCA-003 | 1090 | 298aa | ENSP00000426571.1 | Nonsense mediated decay | E9PCT8 | - | - | |
ENST00000512526.1 | SGCA-010 | 577 | 58aa | ENSP00000426606.1 | Nonsense mediated decay | - | - | CDS 5' incomplete, | |
ENST00000514934.1 | SGCA-006 | 542 | 65aa | ENSP00000423168.1 | Nonsense mediated decay | D6R9S3 | - | - | |
ENST00000513942.1 | SGCA-005 | 734 | No protein | - | Processed transcript | - | - | - | |
ENST00000508382.1 | SGCA-013 | 410 | No protein | - | Processed transcript | - | - | - | |
ENST00000505964.1 | SGCA-012 | 494 | No protein | - | Retained intron | - | - | - |