Gene: ATP6V1B2 ENSG00000147416

Description

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 [Source:HGNC Symbol;Acc:854]

Gene Synonyms

ATP6B1B2, ATP6B2, HO57, VATB, VPP3, Vma2

Location

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	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6014	B4DFM5 B4DQI9 P21281	NM_001693.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000519667.1	ATP6V1B2-005	670	199aa	ENSP00000430682.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000521442.1	ATP6V1B2-007	738	49aa	ENSP00000430866.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000520830.1	ATP6V1B2-004	649	56aa	ENSP00000428069.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000523478.1	ATP6V1B2-006	572	66aa	ENSP00000430154.1	Nonsense mediated decay		E5RGH6	-	-
ENST00000523482.1	ATP6V1B2-003	6907	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary