PNKD

GENE INFORMATION

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Gene name

PNKD (HGNC Symbol)

Synonyms

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

Description

Paroxysmal nonkinesigenic dyskinesia (HGNC Symbol)

Entrez gene summary

This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

Chromosome

2

Cytoband

q35

Chromosome location (bp)

218270392 - 218346793

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000127838 (version 78.38)

Entrez gene

25953

UniProt

Q8N490 (UniProt - Evidence at protein level)

neXtProt

NX_Q8N490

Antibodypedia

PNKD antibodies
 

PROTEIN VIEW

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PNKD-001
 
PNKD-002
 
PNKD-003
 
PNKD-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PNKD-001 ENSP00000273077
ENST00000273077
Q8N490
Show all »
Show » Show » 385 42.9 No 0
PNKD-002 ENSP00000258362
ENST00000258362
Q8N490
Show all »
Show » Show » 361 40.7 Yes 1
PNKD-003 ENSP00000248451
ENST00000248451
Q8N490
Show all »
Show » Show » 142 15.4 No 0
PNKD-007 ENSP00000414400
ENST00000436005
Q8N490
Show all »
Show » Show » 325 36.8 No 0