Gene: PNKD ENSG00000127838

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

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000273077.4	PNKD-001	3021	385aa	ENSP00000273077.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2411	Q8N490	NM_015488.4	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000258362.3	PNKD-002	2991	361aa	ENSP00000258362.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2413	Q8N490	NM_022572.4	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000436005.2	PNKD-007	978	325aa	ENSP00000414400.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q8N490	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000248451.3	PNKD-003	758	142aa	ENSP00000248451.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS42816	Q8N490	NM_001077399.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000472650.1	PNKD-005	472	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000494954.1	PNKD-006	248	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000469689.1	PNKD-004	1372	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000483797.1	PNKD-008	209	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: PNKD ENSG00000127838

Summary

EMBL-EBI User Survey 2024

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Gene: PNKD ENSG00000127838

Summary