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

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

Show transcript tableHide transcript table

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	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, 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		-	-	-

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Gene: ATP6V1B2 ENSG00000147416

Summary

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Gene: ATP6V1B2 ENSG00000147416

Summary