Gene: AQP2 ENSG00000167580

Description

aquaporin 2 (collecting duct) [Source:HGNC Symbol;Acc:634]

Gene Synonyms

AQP-CD, WCH-CD

Location

GRCh37:CM000674.1

About this gene

This gene has 3 transcripts (splice variants), 7 paralogues and is associated with 2 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000199280.3	AQP2-001	4174	271aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS8792	P41181	NM_000486.5	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000550862.1	AQP2-004	809	244aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8VPL3	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000551526.1	AQP2-003	1762	223aa	Nonsense mediated decay		F8W0S2	-	-

Summary

Name

AQP2 (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: P41181

CCDS

This gene is a member of the Human CCDS set: CCDS8792.1

LRG

LRG_717 provides a stable genomic reference framework for describing sequence variants for this gene

Ensembl version

ENSG00000167580.3

Other assemblies

This gene maps to 49,950,741-49,958,881 in GRCh38 coordinates.

Gene type

Protein coding

Annotation method

Annotation for this gene includes both automatic annotation from Ensembl and Havana manual curation, see article.

Alternative genes

This gene corresponds to the following database identifiers:

Havana gene:	OTTHUMG00000169709 (version 2)

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