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Ptch2 Gene Detail
Summary
  • Symbol
    Ptch2
  • Name
    patched 2
  • Synonyms
    ptc2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1095405
    NCBI Gene: 19207
Location & Maps
more
  • Sequence Map
    Chr4:117096075-117116101 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      20027 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 53.41 cM, cytoband C-D
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    PTCH2, patched 2
  • Vertebrate Orthologs
    5
  • Human Ortholog
    PTCH2, patched 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PTC2
  • Links
    NCBI Gene ID: 8643
    neXtProt AC: NX_Q9Y6C5

  • Chr Location
    1p34.1; chr1:44819844-44842944 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human PTCH2 associations

Human Disease Mouse Models
       Basal Cell Carcinoma, Susceptibility to, 1; BCC1   OMIM: 605462
Basal Cell Nevus Syndrome; BCNS   OMIM: 109400
Medulloblastoma; MDB   OMIM: 155255 View 2 models
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
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  • Phenotype Summary
    17 phenotypes from 3 alleles in 3 genetic backgrounds
    9 phenotypes from multigenic genotypes
    21 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.
  • All Mutations and Alleles
    24
  • Chemically induced (other)
    2
  • Gene trapped
    12
  • Radiation induced
    1
  • Targeted
    9
  • Genomic Mutations
    4 involving Ptch2
  • Incidental Mutations
Male mice homozygous for a targeted gene disruption display anemia, abnormal red blood cells, enlarged spleens, extramedullary hematopoiesis, and an increased percentage of neutrophils. Most male mice homozygous for another allele display alopecia and skin lesions.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000009923 VEGA Gene Model | MGI Sequence Detail 20027 C57BL/6J ±  kb
transcript OTTMUST00000023049 VEGA | MGI Sequence Detail 4382 Not Applicable  
polypeptide OTTMUSP00000010515 VEGA | MGI Sequence Detail 1182 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    234 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000013413 protein patched homolog 2
  • InterPro Domains
    IPR003392 Protein patched/dispatched
    IPR000731 Sterol-sensing domain
    IPR004766 Transmembrane receptor, patched
Molecular
Reagents
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  • All nucleic 36
    Genomic 1
    cDNA 27
    Primer pair 5
    Other 3

    Microarray probesets 4
References
more
  • Summaries
    All 91
    Developmental Gene Expression 61
    Diseases 1
    Gene Ontology 5
    Phenotypes 21
  • Earliest
    J:41710 Takabatake T, et al., Hedgehog and patched gene expression in adult ocular tissues. FEBS Lett. 1997 Jun 30;410(2-3):485-9
  • Latest
    J:233841 Inoue M, et al., Isolation and Characterization of Fetal Leydig Progenitor Cells of Male Mice. Endocrinology. 2016 Mar;157(3):1222-33

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory