Gene: PANK2 ENSG00000125779

Description

pantothenate kinase 2 [Source:HGNC Symbol;Acc:15894]

Gene Synonyms

C20orf48, FLJ11729, HARP, HSS, NBIA1, PKAN

Location

Chromosome 20: 3,869,486-3,907,605 forward strand.

GRCh37:CM000682.1

About this gene

This gene has 7 transcripts (splice variants), 3 paralogues and is associated with 5 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000497424.1	PANK2-001	4815	279aa	ENSP00000417609.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13072	A4FU43 D3DVZ1 Q52M85 Q9BZ23	NM_153640.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000316562.4	PANK2-007	2280	570aa	ENSP00000313377.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13071	A4FU43 D3DVZ1 Q52M85 Q9BZ23	NM_153638.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000610179.1	PANK2-008	1807	447aa	ENSP00000477429.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A4FU43 D3DVZ1 Q52M85	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000495692.1	PANK2-003	967	115aa	ENSP00000476745.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000336066.3	PANK2-002	1843	158aa	ENSP00000477229.1	Nonsense mediated decay		-	-	-
ENST00000464452.1	PANK2-005	771	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000471830.1	PANK2-004	622	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Gene: PANK2 ENSG00000125779

Summary