Description
AFG3-like AAA ATPase 2 [Source:HGNC Symbol;Acc:315]
Gene Synonyms
SCA28, SPAX5
Location
Chromosome 18: 12,328,943-12,377,313 reverse strand.
GRCh37:CM000680.1
About this gene
This gene has 4 transcripts (splice variants) and is associated with 6 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000269143.3 | AFG3L2-001 | 3247 | 797aa | ENSP00000269143.2 | Protein coding | CCDS11859 | D3DUJ0 Q9Y4W6 | NM_006796.2 | GENCODE basic, |
ENST00000590811.1 | AFG3L2-002 | 627 | 209aa | ENSP00000467236.1 | Protein coding | - | - | CDS 5' and 3' incomplete, | |
ENST00000588893.1 | AFG3L2-004 | 3367 | No protein | - | Retained intron | - | - | - | |
ENST00000591848.1 | AFG3L2-003 | 446 | No protein | - | Retained intron | - | - | - |