PNKD

GENERAL INFORMATION

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Gene name

PNKD

Gene description

Paroxysmal nonkinesigenic dyskinesia

Protein class

Disease related genes
Mitochondrial proteins
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in most epithelial tissues, highest levels in squamous epithelial.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA010134 , HPA017068
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000248451
 
ENST00000258362
 
ENST00000273077
 
ENST00000436005
 
 
 
 


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