Description
paroxysmal nonkinesigenic dyskinesia [Source:HGNC Symbol;Acc:9153]
Gene Synonyms
BRP17, DKFZp564N1362, DYT8, FKSG19, FPD1, KIAA1184, KIPP1184, MGC31943, MR-1, MR1, PDC, PKND1, TAHCCP2
Location
Chromosome 2: 219,135,115-219,211,516 forward strand.
GRCh37:CM000664.1
About this gene
This gene has 8 transcripts (splice variants), 3 paralogues and is associated with 2 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000273077.4 | PNKD-001 | 3021 | 385aa | ENSP00000273077.4 | Protein coding | CCDS2411 | Q8N490 | NM_015488.4 | GENCODE basic, |
ENST00000258362.3 | PNKD-002 | 2991 | 361aa | ENSP00000258362.3 | Protein coding | CCDS2413 | Q8N490 | NM_022572.4 | GENCODE basic, |
ENST00000436005.2 | PNKD-007 | 978 | 325aa | ENSP00000414400.2 | Protein coding | Q8N490 | - | GENCODE basic, | |
ENST00000248451.3 | PNKD-003 | 758 | 142aa | ENSP00000248451.3 | Protein coding | CCDS42816 | Q8N490 | NM_001077399.2 | GENCODE basic, |
ENST00000472650.1 | PNKD-005 | 472 | No protein | - | Processed transcript | - | - | - | |
ENST00000494954.1 | PNKD-006 | 248 | No protein | - | Processed transcript | - | - | - | |
ENST00000469689.1 | PNKD-004 | 1372 | No protein | - | Retained intron | - | - | - | |
ENST00000483797.1 | PNKD-008 | 209 | No protein | - | Retained intron | - | - | - |