PANK2 pantothenate kinase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PANK2provided by HGNC
Official Full Name: pantothenate kinase 2provided by HGNC
Primary source: HGNC:HGNC:15894
See related: Ensembl:ENSG00000125779 MIM:606157; AllianceGenome:HGNC:15894
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HSS; HARP; PKAN; NBIA1; C20orf48
Summary: This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 4.5), brain (RPKM 4.1) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 20p13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (3888781..3929887)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (3919717..3960811)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (3869428..3910534)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report.
Title: The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report.
Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India.
Title: Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India.
Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.
Title: Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.
PANK2 p.A170fsa novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family.
Title: PANK2 p.A170fs：a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family.
Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.
Title: Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.
A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.
Title: A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.
PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.
Title: PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.
Overexpression of Human Mutant PANK2 Proteins Affects Development and Motor Behavior of Zebrafish Embryos.
Title: Overexpression of Human Mutant PANK2 Proteins Affects Development and Motor Behavior of Zebrafish Embryos.
A novel PANK2 mutation was identified in South East Asian population in Thailand with pantothenate kinase associated neurodegeneration.
Title: Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration.
Study identified c.1069C > T missense variation (rs753376100) in exon 3 of PANK2 gene associated with Pantothenate kinase-associated Neurodegeneration (PKAN) that had segregated in the family in an autosomal recessive mode. The clinical phenotype was found to be concordant with classic PKAN in terms of the age of onset, symptoms and radiological findings. The variant amino acid was mapped within the catalytic site.
Title: A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India.

Submit: New GeneRIF Correction See all GeneRIFs (62)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Pigmentary pallidal degeneration MedGen: C0018523 OMIM: 234200 GeneReviews: Pantothenate Kinase-Associated Neurodegeneration, Neurodegeneration with Brain Iron Accumulation Disorders Overview	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH48352 (e-PCR)
- UniSTS:3080

RH11899 (e-PCR)
- UniSTS:41814

NoName (e-PCR)
- UniSTS:483425

D11S3114 (e-PCR)
- UniSTS:152207

WI-17847 (e-PCR)
- UniSTS:72641

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables pantothenate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables pantothenate kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables pantothenate kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables pantothenate kinase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in aerobic respiration	IEA Inferred from Electronic Annotation more info
involved_in angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in coenzyme A biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in coenzyme A biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in coenzyme A biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in coenzyme A biosynthetic process	TAS Traceable Author Statement more info
involved_in mitochondrion organization	IEA Inferred from Electronic Annotation more info
involved_in pantothenate metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in phosphorylation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of bile acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of fatty acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrial membrane potential	IEA Inferred from Electronic Annotation more info
involved_in regulation of triglyceride metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatid development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial intermembrane space	TAS Traceable Author Statement more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	NAS Non-traceable Author Statement more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: pantothenate kinase 2, mitochondrial

Names: Hallervorden-Spatz syndrome; pantothenate kinase-associated neurodegeneration; pantothenic acid kinase 2

NP_001311120.1

EC 2.7.1.33

NP_001311121.1

EC 2.7.1.33

NP_001311122.1

EC 2.7.1.33

NP_001373322.1

EC 2.7.1.33

NP_079236.3

EC 2.7.1.33

NP_705902.2

EC 2.7.1.33

NP_705904.1

EC 2.7.1.33

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008131.3 RefSeqGene

Range

5085..46049

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1016

mRNA and Protein(s)

NM_001324191.2 → NP_001311120.1 pantothenate kinase 2, mitochondrial isoform 2

Status: REVIEWED

Source sequence(s)

AL031670, AL353194, BX118574

Consensus CDS

CCDS13072.1

UniProtKB/Swiss-Prot

Q9BZ23

Conserved Domains (1) summary

pfam03630
Location:1 → 271

Fumble
NM_001324192.1 → NP_001311121.1 pantothenate kinase 2, mitochondrial isoform 5

Status: REVIEWED

Source sequence(s)

AL353194, BF223391
NM_001324193.2 → NP_001311122.1 pantothenate kinase 2, mitochondrial isoform 6

Status: REVIEWED

Source sequence(s)

AL031670, AL532307, BC107724, BX118574

UniProtKB/TrEMBL

V9GYH1

Related

ENSP00000476745.1, ENST00000495692.5

Conserved Domains (1) summary

cl17037
Location:1 → 126

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
NM_001386393.1 → NP_001373322.1 pantothenate kinase 2, mitochondrial isoform 7 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (11) uses a downstream transcription start site and a downstream non-AUG translation start site, compared to variant 1. The encoded isoform (7) is also mitochondrially localized but has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AL031670, AL353194

Consensus CDS

CCDS93004.1

UniProtKB/TrEMBL

A0A2R8YF29

Related

ENSP00000477429.2, ENST00000610179.7

Conserved Domains (1) summary

pfam03630
Location:104 → 452

Fumble
NM_024960.6 → NP_079236.3 pantothenate kinase 2, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_079236.3

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an alternate first exon, and uses a downstream translation initiation site, compared to variant 1. The resulting protein (isoform 2) lacks an N-terminal segment compared to isoform 1, resulting in a shorter protein that shares identity through the C-terminus. Isoform 2 is not expressed in mitochondria. Variants 2, 3 and 7 encode isoform 2.

Source sequence(s)

AK021791, AL031670, AL353194, BX118574

Consensus CDS

CCDS13072.1

UniProtKB/Swiss-Prot

Q9BZ23

Related

ENSP00000417609.1, ENST00000497424.5

Conserved Domains (1) summary

pfam03630
Location:1 → 271

Fumble
NM_153638.4 → NP_705902.2 pantothenate kinase 2, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_705902.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest mitochondrially localized isoform (1). It uses upstream transcription and translation start sites, compared to variant 11.

Source sequence(s)

AL031670, AL353194

Consensus CDS

CCDS13071.2

UniProtKB/Swiss-Prot

B1AK33, B2Z3X0, D3DVZ0, Q5T7I2, Q5T7I4, Q7RTX5, Q8N7Q4, Q8TCR5, Q9BYW5, Q9BZ23, Q9HAF2

Related

ENSP00000313377.4, ENST00000316562.9

Conserved Domains (1) summary

pfam03630
Location:214 → 562

Fumble; Fumble
NM_153640.4 → NP_705904.1 pantothenate kinase 2, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_705904.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate first exon, and uses a downstream translation initiation site, compared to variant 1. The resulting protein (isoform 2) lacks an N-terminal segment compared to isoform 1, resulting in a shorter protein that shares identity through the C-terminus. Isoform 2 is not expressed in mitochondria. Variants 2, 3 and 7 encode isoform 2.

Source sequence(s)

AL031670, AL532307, BC065019, BC107724, BX118574

Consensus CDS

CCDS13072.1

UniProtKB/Swiss-Prot

Q9BZ23

UniProtKB/TrEMBL

Q6P1K9

Related

ENSP00000481523.1, ENST00000621507.1

Conserved Domains (1) summary

pfam03630
Location:1 → 271

Fumble

RNA

NR_136715.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL031670, AL353194, BC009421, BX118574

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

3888781..3929887

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

3919717..3960811

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_153637.1: Suppressed sequence

Description

NM_153637.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
NM_153639.1: Suppressed sequence

Description

NM_153639.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_153641.1: Suppressed sequence

Description

NM_153641.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.