Description
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 [Source:HGNC Symbol;Acc:854]
Gene Synonyms
ATP6B1B2, ATP6B2, HO57, VATB, VPP3, Vma2
Location
Chromosome 8: 20,054,878-20,084,330 forward strand.
GRCh37:CM000670.1
About this gene
This gene has 6 transcripts (splice variants), 1 paralogue and is associated with 5 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000276390.2 | ATP6V1B2-001 | 2875 | 511aa | ENSP00000276390.2 | Protein coding | CCDS6014 | B4DFM5 B4DQI9 P21281 | NM_001693.3 | Ensembl Canonical, GENCODE basic, |
ENST00000519667.1 | ATP6V1B2-005 | 670 | 199aa | ENSP00000430682.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000521442.1 | ATP6V1B2-007 | 738 | 49aa | ENSP00000430866.1 | Nonsense mediated decay | - | - | CDS 5' incomplete, | |
ENST00000520830.1 | ATP6V1B2-004 | 649 | 56aa | ENSP00000428069.1 | Nonsense mediated decay | - | - | CDS 5' incomplete, | |
ENST00000523478.1 | ATP6V1B2-006 | 572 | 66aa | ENSP00000430154.1 | Nonsense mediated decay | E5RGH6 | - | - | |
ENST00000523482.1 | ATP6V1B2-003 | 6907 | No protein | - | Retained intron | - | - | - |