Pank2 pantothenate kinase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pank2provided by MGI
Official Full Name: pantothenate kinase 2provided by MGI
Primary source: MGI:MGI:1921700
See related: Ensembl:ENSMUSG00000037514 AllianceGenome:MGI:1921700
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: hPanK2; 4933409I19Rik
Summary: Enables pantothenate kinase activity. Acts upstream of or within several processes, including coenzyme A biosynthetic process; mitochondrion morphogenesis; and spermatid development. Located in cytosol and mitochondrion. Human ortholog(s) of this gene implicated in pantothenate kinase-associated neurodegeneration. Orthologous to human PANK2 (pantothenate kinase 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 13.4), limb E14.5 (RPKM 11.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 F1; 2 63.31 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (131103928..131141108)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (131262008..131299188)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This study showed that PANK2 genes account for disease of patients diagnosed with an Neurodegeneration with brain iron accumulation disorder.
Title: Neurodegeneration with brain iron accumulation.
Pank2(-/-) mice fed with a ketogenic diet developed a pantothenate kinase-associated neurodegeneration-like syndrome
Title: Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.
Data demonstrate that Pank2 localizes to mitochondria. Pank2-defective neurons have an altered mitochondrial membrane potential, a defect further corroborated by swollen mitochondria at the ultra-structural level and by defective respiration.
Title: Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.
The data indicate that PanK1 and PanK2 can compensate for each other to supply tissue CoA.
Title: Germline deletion of pantothenate kinases 1 and 2 reveals the key roles for CoA in postnatal metabolism.
expression of PanK2 was higher in human brain compared to mouse brain
Title: Localization and regulation of mouse pantothenate kinase 2.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI642621 (e-PCR)
- UniSTS:178719

NoName (e-PCR)
- UniSTS:234537

RH129059 (e-PCR)
- UniSTS:212367

RH136158 (e-PCR)
- UniSTS:210153

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide 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	IDA Inferred from Direct Assay more info	PubMed
enables pantothenate kinase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables pantothenate kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables pantothenate kinase activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within aerobic respiration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in coenzyme A biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in coenzyme A biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within coenzyme A biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in coenzyme A biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of bile acid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of fatty acid metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of mitochondrial membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of triglyceride metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
NOT located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: pantothenate kinase 2, mitochondrial

Names: pantothenate kinase 2 (Hallervorden-Spatz syndrome); pantothenic acid kinase 2

NP_001342608.1

EC 2.7.1.33

NP_001342610.1

EC 2.7.1.33

NP_001342611.1

EC 2.7.1.33

NP_001342612.1

EC 2.7.1.33

NP_705721.3

EC 2.7.1.33

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001355679.1 → NP_001342608.1 pantothenate kinase 2, mitochondrial isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AK082821, AL808128

Related

ENSMUST00000131779.8

Conserved Domains (1) summary

pfam03630
Location:87 → 344

Fumble
NM_001355681.1 → NP_001342610.1 pantothenate kinase 2, mitochondrial isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).

Source sequence(s)

AL808128

Conserved Domains (1) summary

pfam03630
Location:1 → 271

Fumble
NM_001355682.1 → NP_001342611.1 pantothenate kinase 2, mitochondrial isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).

Source sequence(s)

AL808128

Conserved Domains (1) summary

pfam03630
Location:1 → 271

Fumble
NM_001355683.1 → NP_001342612.1 pantothenate kinase 2, mitochondrial isoform d

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks three alternate coding exons compared to variant 1. The resulting isoform (d) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AL808128

Conserved Domains (1) summary

cl17037
Location:87 → 250

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
NM_153501.3 → NP_705721.3 pantothenate kinase 2, mitochondrial isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a). It uses a non-AUG translation start site (PMID: 15105273).

Source sequence(s)

AL808128

Consensus CDS

CCDS16761.1

UniProtKB/Swiss-Prot

Q3U4S0, Q7M753

Related

ENSMUSP00000119606.3, ENSMUST00000150843.9

Conserved Domains (1) summary

pfam03630
Location:100 → 448

Fumble

RNA

NR_149747.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (6) lacks two alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL808128

Related

ENSMUST00000184932.9
NR_149748.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (7) differs in the 5' end and uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK016755, AL808128