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Pstpip2 Gene Detail
Summary
  • Symbol
    Pstpip2
  • Name
    proline-serine-threonine phosphatase-interacting protein 2
  • Synonyms
    cmo
  • Feature Type
    protein coding gene
  • IDs
    MGI:1335088
    NCBI Gene: 19201
  • Alliance
    gene page
  • Transcription Start Sites
    26 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:77882250-77971462 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 52.38 cM, cytoband E3
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3119 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1335088
 protein coding gene Chr18:77877614-77971462 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024580
 protein coding gene Chr18:78602907-78700705 (+)
A/J MGP_AJ_G0024547
 protein coding gene Chr18:75178627-75267433 (+)
AKR/J MGP_AKRJ_G0024518
 protein coding gene Chr18:77341765-77441194 (+)
BALB/cJ MGP_BALBcJ_G0024546
 protein coding gene Chr18:75367683-75458339 (+)
C3H/HeJ MGP_C3HHeJ_G0024315
 protein coding gene Chr18:77493741-77585418 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024993
 protein coding gene Chr18:80660683-80755311 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022423
 protein coding gene Chr18:74146347-74229195 (+)
CAST/EiJ MGP_CASTEiJ_G0023787
 protein coding gene Chr18:77801831-77910244 (+)
CBA/J MGP_CBAJ_G0024284
 protein coding gene Chr18:83533396-83662374 (+)
DBA/2J MGP_DBA2J_G0024414
 protein coding gene Chr18:74720392-74809575 (+)
FVB/NJ MGP_FVBNJ_G0024380
 protein coding gene Chr18:74080035-74167029 (+)
LP/J MGP_LPJ_G0024498
 protein coding gene Chr18:78508960-78601671 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024410
 protein coding gene Chr18:84762638-84862172 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025041
 protein coding gene Chr18:77560074-77657438 (+)
PWK/PhJ MGP_PWKPhJ_G0023532
 protein coding gene Chr18:75146224-75237545 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023336
 protein coding gene Chr18:77741254-77842004 (+)
WSB/EiJ MGP_WSBEiJ_G0023851
 protein coding gene Chr18:77512523-77608635 (+)



Homology
more
  • Human Ortholog
    PSTPIP2, proline-serine-threonine phosphatase interacting protein 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PSTPIP2, proline-serine-threonine phosphatase interacting protein 2
  • Synonyms
    MAYP
  • Links
    NCBI Gene ID: 9050
    neXtProt AC: NX_Q9H939
    UniProt: Q9H939

  • Chr Location
    18q12; chr18:45983536-46072272 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pstpip2 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    53 phenotypes from 4 alleles in 5 genetic backgrounds
    1 phenotype from multigenic genotypes
    27 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 mutant animals develop osteomyelitis (bone inflammation). Tail kinks are observed starting at 6-8 weeks of age and chronic inflammation of the extremities and ears is subsequently seen. Extramedullary hematopoiesis in the spleen is observed.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    8
  • GO References
    3
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
    706
  • cDNA Data
    30
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19201 NCBI Gene Model | MGI Sequence Detail 89213 C57BL/6J ±  kb
    transcript NM_013831 RefSeq | MGI Sequence Detail 3138 ZRU/MplStud  
    polypeptide Q99M15 UniProt | EBI | MGI Sequence Detail 334 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 30
      cDNA 30

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-2028, MGI:88427
    References
    more
    • Summaries
      All 49
      Diseases 2
      Gene Ontology 3
      Phenotypes 27
    • Earliest
      J:1534 Byrd L, et al., Chronic multifocal osteomyelitis, a new recessive mutation on chromosome 18 of the mouse. Genomics. 1991 Dec;11(4):794-8
    • Latest
      J:356796 Pavliuchenko N, et al., Genetic background affects neutrophil activity and determines the severity of autoinflammatory osteomyelitis in mice. J Leukoc Biol. 2024 Aug 9;
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory