Description
polycystic kidney disease 2 (autosomal dominant) [Source:HGNC Symbol;Acc:9009]
Gene Synonyms
APKD2, PC2, PKD4, Pc-2, TRPP2
Location
Chromosome 4: 88,928,820-88,998,929 forward strand.
GRCh37:CM000666.1
About this gene
This gene has 7 transcripts (splice variants), 6 paralogues and is associated with 2 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000237596.2 | PKD2-001 | 5056 | 968aa | ENSP00000237596.2 | Protein coding | CCDS3627 | B4DE45 B4DFN3 B7Z2D4 Q13563 Q9UEU6 | NM_000297.3 | GENCODE basic, |
ENST00000508588.1 | PKD2-002 | 1720 | 386aa | ENSP00000427131.1 | Protein coding | B4DE45 B4DFN3 B7Z2D4 Q9UEU6 | - | GENCODE basic, | |
ENST00000502363.1 | PKD2-005 | 1222 | 386aa | ENSP00000425289.1 | Protein coding | B4DE45 B4DFN3 B7Z2D4 Q9UEU6 | - | GENCODE basic, | |
ENST00000511337.1 | PKD2-003 | 1362 | No protein | - | Processed transcript | - | - | - | |
ENST00000512858.1 | PKD2-004 | 1554 | No protein | - | Retained intron | - | - | - | |
ENST00000506367.1 | PKD2-007 | 693 | No protein | - | Retained intron | - | - | - | |
ENST00000506727.1 | PKD2-006 | 550 | No protein | - | Retained intron | - | - | - |