Description

paroxysmal nonkinesigenic dyskinesia [Source:HGNC Symbol;Acc:HGNC:9153]

Synonyms

PKND1, DKFZp564N1362, MGC31943, PDC, DYT8, FKSG19, FPD1, TAHCCP2, KIAA1184, MR-1, BRP17, KIPP1184

Location

Chromosome 2: 218,270,392-218,346,793 forward strand.

GRCh38:CM000664.2

About this gene

This gene has 8 transcripts (splice variants), 79 orthologues, 3 paralogues, is a member of 2 Ensembl protein families and is associated with 2 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
PNKD-203ENST00000273077.83021385aaENSP00000273077
 
Protein coding
CCDS2411A0A024R415 Q8N490 NM_015488
NP_056303
TSL:1GENCODE basicAPPRIS P4
PNKD-202ENST00000258362.72991361aaENSP00000258362
 
Protein coding
CCDS2413Q8N490 NM_022572
NP_072094
TSL:1GENCODE basicAPPRIS ALT2
PNKD-201ENST00000248451.7758142aaENSP00000248451
 
Protein coding
CCDS42816Q8N490 NM_001077399
NP_001070867
TSL:1GENCODE basic
PNKD-204ENST00000436005.2978325aaENSP00000414400
 
Protein coding
-Q8N490 -TSL:5GENCODE basic
PNKD-206ENST00000472650.1472No protein-
 
Processed transcript
---TSL:2
PNKD-208ENST00000494954.1248No protein-
 
Processed transcript
---TSL:3
PNKD-205ENST00000469689.11372No protein-
 
Retained intron
---TSL:2
PNKD-207ENST00000483797.1209No protein-
 
Retained intron
---TSL:3

Gene-based displays