PANK2 - pantothenate kinase 2 Gene

Also Known as HSS; HARP; PKAN; NBIA1; C20orf48

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80025

About PANK2

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:3,888,781-3,929,887 (from NCBI)

This gene has 12 transcripts (splice variants), 204 orthologues, 3 paralogues and is associated with 5 phenotypes. Ubiquitous expression in bone marrow (RPKM 4.5), brain (RPKM 4.1) and 25 other tissues.

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]

PANK2 Products (7)

mRNA	Protein	Name
NM_001324191.2	NP_001311120.1	pantothenate kinase 2, mitochondrial isoform 2
NM_001324192.1	NP_001311121.1	pantothenate kinase 2, mitochondrial isoform 5
NM_001324193.2	NP_001311122.1	pantothenate kinase 2, mitochondrial isoform 6
NM_001386393.1	NP_001373322.1	pantothenate kinase 2, mitochondrial isoform 7 precursor
NM_024960.6	NP_079236.3	pantothenate kinase 2, mitochondrial isoform 2
NM_153638.4	NP_705902.2	pantothenate kinase 2, mitochondrial isoform 1 precursor
NM_153640.4	NP_705904.1	pantothenate kinase 2, mitochondrial isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables pantothenate kinase activity	IMP IMP: Inferred from mutant phenotype	15659606	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15161933	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in angiogenesis	IMP IMP: Inferred from mutant phenotype	30221726	GOA
involved in regulation of bile acid metabolic process	IMP IMP: Inferred from mutant phenotype	22221393	GOA
involved in regulation of fatty acid metabolic process	IMP IMP: Inferred from mutant phenotype	22221393	GOA
involved in regulation of triglyceride metabolic process	IMP IMP: Inferred from mutant phenotype	22221393	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	23152917	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	15659606	GOA
located in nucleus	IDA IDA: Inferred from direct assay	23152917	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PANK2 Protein Structure

Fumble

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570 a.a.

Protein Preferred Names	Protein Names
pantothenate kinase 2, mitochondrial	Hallervorden-Spatz syndrome

PANK2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PANK2	Q9BZ23	YWHAZ	Homo sapiens	P63104	Pull Down	15161933

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Neurodegeneration With Brain Iron Accumulation 1	Pantothenate Kinase-Associated Neurodegeneration Pkan NBIA1 Hallervorden-Spatz Disease Hallervorden-Spatz Syndrome Pigmentary Pallidal Degeneration Neuroaxonal Dystrophy, Late Infantile Neurodegeneration With Brain Iron Accumulation Type 1 Classic Pantothenate Kinase-Associated Neurodegeneration Pkan Neuroaxonal Dystrophy, Juvenile-Onset Brain Iron Accumulation Type I Syndrome Nbia Neurodegeneration With Brain Iron Accumulation Nbia1, Classic Form Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form Pkan, Classic Form Atypical Pantothenate Kinase-Associated Neurodegeneration Nbia1, Atypical Form Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form Pkan, Atypical Form Hss Pkan Neuroaxonal Dystrophy Juvenile-Onset Neurodegeneration, With Brain Iron Accumulation, Type 1
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Harp Syndrome HARP
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Neurodegeneration With Brain Iron Accumulation 3	Neuroferritinopathy NBIA3 Ferritin-Related Neurodegeneration Hereditary Ferritinopathy Basal Ganglia Disease, Adult-Onset Adult Basal Ganglia Disease Neuroferritinopathy Basal Ganglia Disease, Adult-Onset Basal Ganglia Disease Adult-Onset Adult-Onset Basal Ganglia Disease Neurodegeneration, With Brain Iron Accumulation, Type 3
Neurodegeneration With Brain Iron Accumulation 2b	NBIA2B Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related Neuroaxonal Dystrophy, Atypical Karak Syndrome Atypical Neuroaxonal Dystrophy Neurodegeneration With Brain Iron Accumulation Pla2g6-Related Neurodegeneration, With Brain Iron Accumulation, Type 2b Neurodegeneration With Brain Iron Accumulation 2
Neurodegeneration With Brain Iron Accumulation 2a	Infantile Neuroaxonal Dystrophy Plan Seitelberger Disease Inad Infantile Neuroaxonal Dystrophy 1 Inad1 Pla2g6-Associated Neurodegeneration NBIA2A Neuroaxonal Dystrophy, Infantile Neurodegeneration, Pla2g6-Associated Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related Phospholipase A2-Associated Neurodegeneration Nbia2 Pla2g6-Related Disorders Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy Karak Syndrome, Included Nbia2b Neuroaxonal Dystrophy, Atypical Neurodegeneration With Brain Iron Accumulation 2b Nbia, Pla2g6-Related Seitelberger'S Disease Neurodegeneration Pla2g6-Associated Dystrophy, Neuroaxonal, Infantile Neurodegeneration, With Brain Iron Accumulation, Type 2a Neuroaxonal Dystrophies Neurodegeneration With Brain Iron Accumulation 2
Neurodegeneration With Brain Iron Accumulation 6	NBIA6 Copan Neurodegeneration With Brain Iron Accumulation Due To Coasy Mutation Coasy Protein-Associated Neurodegeneration Neurodegeneration, With Brain Iron Accumulation, Type 6
Parkinsonism	Parkinsonism-Plus Idiopathic Parkinsonism Primary Parkinsonism Paralysis Agitans Syndrome Parkinsonian Syndrome Trembling Paralysis Paralysis Agitans Shaking Palsy Shaking Paralysis
Kufor-Rakeb Syndrome	Park9 Krppd KRS Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia Autosomal Recessive Parkinson Disease 9 Parkinson Disease 9 Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset Autosomal Recessive Juvenile Onset Parkinson Disease 9 Parkinson Disease Type 9 Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia Park 9 Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis Cln12 Disease Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis Parkinson Disease Autosomal Recessive 9
Movement Disease	Movement Disorders Movement Disorder
Oromandibular Dystonia
Hereditary Spastic Paraplegia 35	Autosomal Recessive Spastic Paraplegia Type 35 Spg35 Autosomal Recessive Spastic Paraplegia 35 Fahn Fatty Acid Hydroxylase-Associated Neurodegeneration Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
Neurodegeneration With Brain Iron Accumulation 4	NBIA4 Mpan Mitochondrial Protein-Associated Neurodegeneration Nbia Due To C19orf12 Mutation Neurodegeneration With Brain Iron Accumulation Due To C19orf12 Mutation Neurodegeneration With Brain Iron Accumulation Type 4 Mitochondrial Membrane Protein Associated Neurodegeneration Neurodegeneration, With Brain Iron Accumulation, Type 4
Woodhouse-Sakati Syndrome	Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome Woodhouse Sakati Syndrome Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome WDSKS Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome Neuroectodermal Endocrine Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities Wss
Neuroaxonal Dystrophy	Neuroaxonal Dystrophies
Neurodegeneration With Brain Iron Accumulation 5	NBIA5 Beta-Propeller Protein-Associated Neurodegeneration Bpan Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood Senda Neurodegeneration With Brain Iron Accumulation Type 5 Neurodegeneration With Brain Iron Accululation 5 Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood Neurodegeneration, With Brain Iron Accululation, Type 5
Non-Syndromic X-Linked Intellectual Disability 2	Mrx2
Retinal Degeneration	Degeneration Of Retina
Choreoacanthocytosis	Chorea-Acanthocytosis CHAC Acanthocytosis With Neurologic Disorder Levine-Critchley Syndrome Choreaacanthocytosis Chorea Acanthocytosis Neuroacanthocytosis Levine-Critchley Syndrome, Formerly Neuroacanthocytosis, Formerly Choreo-Acanthocytosis Acanthocytosis Chorea Chorea Acanthocytosis Syndrome
Neuroacanthocytosis	Neuroacanthocytosis Syndrome
Mcleod Syndrome	Mcleod Neuroacanthocytosis Syndrome MLS X-Linked Mcleod Syndrome Mcleod Phenotype Neuroacanthocytosis, Mcleod Type Mcleod Syndrome With Or Without Chronic Granulomatous Disease MCLDS Mcleod Type Neuroacanthocytosis Mcleod Syndrome With Chronic Granulomatous Disease Neuroacanthocytosis Mcleod Type Blood Group Deletion Syndrome
Vas Deferens, Congenital Bilateral Aplasia Of	Congenital Bilateral Absence Of Vas Deferens CBAVD Cavd Congenital Bilateral Aplasia Of Vas Deferens Congenital Bilateral Absence Of The Vas Deferens Congenital Bilateral Agenesis Of Vas Deferens Absence Of Vas Deferens Absent Vasa Congenital Absence Of Vas Deferens Congenital Aplasia Of Vas Deferens Absent Vas Deferens Vas Deferens, Congenital Bilateral Absence
Parkinson Disease 15, Autosomal Recessive Early-Onset	Parkinsonian-Pyramidal Syndrome Pallidopyramidal Syndrome Parkinson Disease 15, Autosomal Recessive PARK15 Pkps Pallido-Pyramidal Syndrome Parkinson'S Disease 15 Autosomal Recessive Early-Onset Parkinson Disease 15 Autosomal Recessive Early-Onset Parkinson'S Disease 15 Pallido-Pyramidal Disease Parkinson Disease 15 Parkinson Disease 15 Autosomal Recessive Pps Parkinson Disease, Type 15
Mitochondrial Complex I Deficiency, Nuclear Type 16	MC1DN16 Nuclear Type Mitochondrial Complex I Deficiency 16 Mitochondrial Complex 1 Deficiency, Nuclear Type 16
Focal Dystonia	Dystonia, Focal, Task-Specific
Early-Onset Parkinson'S Disease	Early-Onset Parkinson Disease
Iron Metabolism Disease	Iron Deficiency Iron Disorder Iron Metabolism Disorders Disorder Of Iron Metabolism Iron Fe Deficiency Iron Storage Disease Iron Storage Disorder
Blepharospasm
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Spasmodic Dystonia	Laryngeal Dystonia
Hemochromatosis, Type 3	Hemochromatosis Type 3 HFE3 Hemochromatosis Due To Defect In Transferrin Receptor 2 Tfr2-Related Hemochromatosis Tfr2-Related Hereditary Hemochromatosis Hemochromatosis 3
Dystonia 12	DYT12 Rdp Generalized Dystonia Dystonia-12 Rapid-Onset Dystonia-Parkinsonism Familial Dystonia Dystonia Musculorum Deformans Dystonic Disorders Idiopathic Familial Dystonia Dystonia-Parkinsonism, Rapid-Onset Fragments Of Torsion Dystonia Dyt-Atp1a3 Rapid-Onset Dystonia Parkinsonism Rodp Dystonia, Type 12 Dystonia 3, Torsion, X-Linked Idiopathic Non-Familial Dystonia Symptomatic Torsion Dystonia Dystonia Disorders
Cervical Dystonia	Spasmodic Torticollis
Lingual-Facial-Buccal Dyskinesia	Orofacial Dyskinesia Oro-Facial Dyskinesia Dyskinesias
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Alcohol-Related Neurodevelopmental Disorder	Static Encephalopathy Arnd Encephalopathy, Static Alcohol Related Neurodevelopmental Disorder
Choreatic Disease	Chorea Hereditary Chorea
Huntington Disease-Like 2	HDL2 Huntington'S Disease-Like 2 Huntington Disease-Like, Type 2
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Lesch-Nyhan Syndrome	Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency LNS Hprt Deficiency Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency X-Linked Hyperuricemia Choreoathetosis Self-Mutilation Syndrome Hprt1 Deficiency Hprt Deficiency, Complete Deficiency Of Imp Pyrophosphorylase Hgprt Deficiency Lesch-Nyhan Disease Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency Hg-Prt Deficiency Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency Lesch - Nyhan Syndrome Hprt1 Disorders Lesch Nyhan Syndrome Complete Hprt Deficiency Complete Lesch Nyhan Disease Complete Hprt Deficiency Deficiency Of Guanine Phosphoribosyltransferase Deficiency Of Hypoxanthine Phosphoribosyltransferase Hypoxanthine Phosphoribosyltransferase Deficiency Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome Juvenile Hyperuricemia Syndrome Lnd Primary Hyperuricemia Syndrome Total Hprt Deficiency Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency X-Linked Primary Hyperuricemia X-Linked Uric Aciduria Enzyme Defect Hprt Complete Deficiency Hprt Deficiency Grade Iv Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
Basal Ganglia Calcification	Fahr'S Syndrome Fahr'S Disease Fahr Disease
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-44170	Pantothenate kinase-IN-2	Inhibitor	98.18%	Unkown
HY-159509	Claziprotamidum	Modulator	98.33%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PANK2	VGNC	VGNC:32564
Mus musculus	PANK2	MGD	MGI:1921700
Macaca mulatta	PANK2	VGNC	VGNC:75614
Rattus norvegicus	PANK2	RGD	RGD:1305169
Canis familiaris	PANK2	VGNC	VGNC:54724
Others	PANK2	NCBI