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Ptpn6 Gene Detail
Summary
  • Symbol
    Ptpn6
  • Name
    protein tyrosine phosphatase, non-receptor type 6
  • Synonyms
    hcp, Hcph, Ptp1C, SHP-1, Spin
  • Feature Type
    protein coding gene
  • IDs
    MGI:96055
    NCBI Gene: 15170
  • Alliance
    gene page
  • Transcription Start Sites
    22 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:124697670-124715672 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 59.17 cM
  • Mapping Data
    15 experiments
Strain
Comparison
more
  • SNPs within 2kb
    429 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96055
 protein coding gene Chr6:124697670-124715677 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031262
 protein coding gene Chr6:128024278-128043340 (-)
A/J MGP_AJ_G0031232
 protein coding gene Chr6:123210926-123229758 (-)
AKR/J MGP_AKRJ_G0031160
 protein coding gene Chr6:126570512-126588331 (-)
BALB/cJ MGP_BALBcJ_G0031240
 protein coding gene Chr6:122805776-122829614 (-)
C3H/HeJ MGP_C3HHeJ_G0030963
 protein coding gene Chr6:126619073-126639343 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031696
 protein coding gene Chr6:131407725-131432323 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028846
 protein coding gene Chr6:120398376-120416374 (-)
CAST/EiJ MGP_CASTEiJ_G0030344
 protein coding gene Chr6:126820292-126841561 (-)
CBA/J MGP_CBAJ_G0030924
 protein coding gene Chr6:136438660-136461767 (-)
DBA/2J MGP_DBA2J_G0031080
 protein coding gene Chr6:122137518-122155355 (-)
FVB/NJ MGP_FVBNJ_G0031030
 protein coding gene Chr6:121040918-121059327 (-)
LP/J MGP_LPJ_G0031160
 protein coding gene Chr6:128193683-128217341 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031068
 protein coding gene Chr6:140494013-140513805 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031731
 protein coding gene Chr6:126462241-126480001 (-)
PWK/PhJ MGP_PWKPhJ_G0030059
 protein coding gene Chr6:120365182-120383366 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029888
 protein coding gene Chr6:124537194-124556161 (-)
WSB/EiJ MGP_WSBEiJ_G0030429
 protein coding gene Chr6:126819233-126839511 (-)



Homology
more
  • Human Ortholog
    PTPN6, protein tyrosine phosphatase non-receptor type 6
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PTPN6, protein tyrosine phosphatase non-receptor type 6
  • Synonyms
    HCP, HCPH, HPTP1C, PTP-1C, SHP-1, SHP1, SHP-1L, SH-PTP1
  • Links
    NCBI Gene ID: 5777
    neXtProt AC: NX_P29350
    UniProt: P29350

  • Chr Location
    12p13.31; chr12:6946468-6961316 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    134 phenotypes from 15 alleles in 19 genetic backgrounds
    14 phenotypes from multigenic genotypes
    3 images
    219 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 mutants are immunodeficient and autoimmune and exhibit neutrophilic skin lesions that disrupt hair follicles and give the motheaten appearance. Alleles vary in severity, with death occurring at 6-9 weeks postnatally due to severe pneumonitis. Mice homozygous for a certain spontaneous allele suffer from progressive retinal degeneration before premature death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    117
  • GO References
    41
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

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
    762
  • Tissues
    14
  • cDNA Data
    65
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 15170 NCBI Gene Model | MGI Sequence Detail 18003 C57BL/6J ±  kb
    transcript NM_001077705 RefSeq | MGI Sequence Detail 2221 ZRU/MplStud  
    polypeptide P29351 UniProt | EBI | MGI Sequence Detail 595 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • Protein Ontology
      PR:000013461 tyrosine-protein phosphatase non-receptor type 6
      (term hierarchy)
    • EC
      3.1.3.48
    • InterPro Domains
      IPR052123 Non-receptor Tyrosine Phosphatase
      IPR016130 Protein-tyrosine phosphatase, active site
      IPR003595 Protein-tyrosine phosphatase, catalytic
      IPR029021 Protein-tyrosine phosphatase-like
      IPR012152 Protein-tyrosine phosphatase, non-receptor type-6, -11
      IPR000980 SH2 domain
      IPR036860 SH2 domain superfamily
      IPR000242 Tyrosine-specific protein phosphatase, PTPase domain
      IPR000387 Tyrosine-specific protein phosphatases domain
    • GlyGen
      P29351 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 75
      Genomic 3
      cDNA 67
      Primer pair 5

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10672, MGD-MRK-12181
    References
    more
    • Summaries
      All 343
      Developmental Gene Expression 10
      Gene Ontology 41
      Phenotypes 219
    • Earliest
      J:5579 Green MC, et al., Motheaten, an immunodeficient mutant of the mouse. I. Genetics and pathology. J Hered. 1975 Sep-Oct;66(5):250-8
    • Latest
      J:345245 Gu Q, et al., Treg-specific deletion of the phosphatase SHP-1 impairs control of inflammation in vivo. Front Immunol. 2023;14:1139326
    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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    11/19/2024
    MGI 6.24     		The Jackson Laboratory