Pank2 MGI Mouse Gene Detail - MGI:1921700 (original) (raw)

Summary

Symbol
Pank2
Name
pantothenate kinase 2
Synonyms
4933409I19Rik
Feature Type
protein coding gene
IDs
MGI:1921700
NCBI Gene:74450
Alliance
Transcription Start Sites
3 TSS

Location &
Maps

Sequence Map
Chr2:131104415-131141108 bp, + strand
From Ensembl annotation of GRCm39
Genome Browsers
Genetic Map
Chromosome 2, 63.31 cM
Mapping Data
2 experiments

Strain
Comparison

SNPs within 2kb
879 from dbSNP Build 142
Strain Annotations
18

Homology

Human Ortholog
PANK2, pantothenate kinase 2
Vertebrate Orthologs
2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog
PANK2, pantothenate kinase 2
Synonyms
C20orf48, HARP, HSS, NBIA1, PKAN
Links
Chr Location
20p13; chr20:3888781-3929887 (+) GRCh38

MGI Vertebrate Homology
HCOP
vertebrate homology predictions:PANK2
Gene Tree

Human Diseases

Diseases
1 with human PANK2 associations
Mutations/Alleles
1 with disease annotations
References
1 with disease annotations

Mutations,
Alleles, and
Phenotypes

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Phenotype Summary
26 phenotypes from 3 alleles in 4 genetic backgrounds
19 phenotypes from multigenic genotypes
3 images
18 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles
Chemically induced (other)
Endonuclease-mediated
Gene trapped
Radiation induced
Targeted
Genomic Mutations
2 involving Pank2
Incidental Mutations
Find Mice (IMSR)
Comparison Matrix

Homozygous null mice display male infertility, arrested spermatogenesis, azoospermia, reduced female fertility, and retinal degeneration.

Gene Ontology
(GO)
Classifications

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All GO Annotations
GO References

Molecular Function carbohydrate derivative binding cytoskeletal protein binding DNA binding enzyme regulator hydrolase ligase lipid binding oxidoreductase RNA binding signaling receptor activity signaling receptor binding transcription transferase transporter Biological Process carbohydrate derivative metabolism cell differentiation cell population proliferation cellular component organization DNA-templated transcription establishment of localization homeostatic process immune system process lipid metabolic process programmed cell death protein metabolic process response to stimulus signaling system development Cellular Component cell projection cytoplasmic vesicle cytoskeleton cytosol endoplasmic reticulum endosome extracellular region Golgi apparatus mitochondrion membraneless organelle nucleus organelle envelope organelle lumen plasma membrane protein-containing complex synapse vacuole Click cells to view annotations.

Expression

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results
Tissues
cDNA Data
Literature Summary
Other Mouse Links
Other Vertebrate Links

Sequences &
Gene Models

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All Sequences
RefSeq
UniProt
CCDS
Ensembl
NCBI Gene

Protein
Information

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UniProt
7 Sequences
Protein Ontology
PR:000012256 pantothenate kinase 2, mitochondrial
EC
InterPro Domains
IPR043129 ATPase, nucleotide binding domain
IPR004567 Type II pantothenate kinase

Molecular
Reagents

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All nucleic 15
Genomic 2
Microarray probesets 7

References

Summaries
Developmental Gene Expression 2
Diseases 1
Gene Ontology 14
Phenotypes 18
Earliest
J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest
J:282558 Collin GB, et al., Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells. 2020 Apr 10;9(4):931