About   Help   FAQ
Pank2 Gene Detail
Summary
  • Symbol
    Pank2
  • Name
    pantothenate kinase 2
  • Synonyms
    4933409I19Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921700
    NCBI Gene: 74450
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:131104415-131141108 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 63.31 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    879 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921700
 protein coding gene Chr2:131103928-131141108 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026529
 protein coding gene Chr2:134778465-134821211 (+)
A/J MGP_AJ_G0026493
 protein coding gene Chr2:129309434-129346350 (+)
AKR/J MGP_AKRJ_G0026468
 protein coding gene Chr2:133041575-133079394 (+)
BALB/cJ MGP_BALBcJ_G0026505
 protein coding gene Chr2:129698275-129734730 (+)
C3H/HeJ MGP_C3HHeJ_G0026248
 protein coding gene Chr2:133480243-133518239 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026950
 protein coding gene Chr2:138915194-138955123 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024327
 protein coding gene Chr2:124049120-124087517 (+)
CAST/EiJ MGP_CASTEiJ_G0025709
 protein coding gene Chr2:133761514-133799034 (+)
CBA/J MGP_CBAJ_G0026228
 protein coding gene Chr2:144090613-144132149 (+)
DBA/2J MGP_DBA2J_G0026362
 protein coding gene Chr2:128698946-128735812 (+)
FVB/NJ MGP_FVBNJ_G0026326
 protein coding gene Chr2:127329052-127365491 (+)
LP/J MGP_LPJ_G0026467
 protein coding gene Chr2:135010490-135051034 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026346
 protein coding gene Chr2:147908871-147953664 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027005
 protein coding gene Chr2:133009528-133049065 (+)
PWK/PhJ MGP_PWKPhJ_G0025445
 protein coding gene Chr2:128274473-128310952 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025247
 protein coding gene Chr2:132159154-132200003 (+)
WSB/EiJ MGP_WSBEiJ_G0025783
 protein coding gene Chr2:133922393-133959509 (+)



Homology
more
  • 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
    NCBI Gene ID: 80025
    neXtProt AC: NX_Q9BZ23
    UniProt: Q9BZ23

  • Chr Location
    20p13; chr20:3888781-3929887 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PANK2 associations

Human Disease Mouse Models
      
IDs
 View 1 "NOT" model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 3 alleles in 4 genetic backgrounds
    19 phenotypes from multigenic genotypes
    3 images
    18 phenotype references
Phenotype Overview

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.
Homozygous null mice display male infertility, arrested spermatogenesis, azoospermia, reduced female fertility, and retinal degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    37
  • GO References
    14
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
less
Expression Overview

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
    800
  • Tissues
    94
  • cDNA Data
    12
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000037514 Ensembl Gene Model | MGI Sequence Detail 36694 C57BL/6J ±  kb
    transcript ENSMUST00000150843 Ensembl | MGI Sequence Detail 4266 Not Applicable  
    polypeptide ENSMUSP00000119606 Ensembl | MGI Sequence Detail 456 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      Genomic 2
      cDNA 13

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2139023
    References
    more
    • Summaries
      All 53
      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
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory