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

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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	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