Description

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

Location
INSDC coordinates

chromosome:GRCh38:CM000674.2:49950741:49958881:1

About this gene

This gene has 3 transcripts (splice variants), 56 orthologues, 7 paralogues, is a member of 1 Ensembl protein family and is associated with 2 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
AQP2-001ENST000001992804174271aaENSP00000199280
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS8792P41181 NM_000486
NP_000477
TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS P1

PRINCIPAL1 - APPRIS candidate principal isoform.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

AQP2-004ENST00000550862809244aaENSP00000450022
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-F8VPL3 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

AQP2-003ENST000005515261762223aaENSP00000447148
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-F8W0S2 -TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays