Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PTCH2 contributors: mct/npt - updated : 11-10-2016
HGNC name patched homolog 2 (Drosophila)
HGNC id 9586
Corresponding disease
BCNS basal cell nevus syndrome
Location 1p34.1      Physical location : 45.285.515 - 45.308.616
Synonym symbol(s) RP11-269F19.8, PTC2
DNA
TYPE functioning gene
STRUCTURE 20.00 kb     22 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
motif repetitive sequence
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 3773 - 1203 - 2004 14613484
22 - - - - abundantly expressed in all tissues 2004 14613484
  • lacking the least exon
  • localized in the cytoplasm and were capable of internalizing the N-terminal fragment of Sonic HH (Shh-N)
  • 21 - - - - in intestine, prostate and cerebellum 2004 14613484
  • lacking exon 9, which is a part of a conserved sterol-sensing domain
  • localized in the cytoplasm and were capable of internalizing the N-terminal fragment of Sonic HH (Shh-N)
  • 23 - 4298 - 1148 - 2004 14613484
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Reproductivemale systemtestis   
    Skin/Tegumentskin   highly
    cell lineage highly in spermatocytes
    cell lines high stage neuroblastoma cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N and C cytoplasmic termini
  • twelve membrane spanning segments
  • five of them (TM2 to TM6) forming a sterol sensing domain (SSD)
  • a proline-rich motif in the C terminal region
  • two large hydrophilic extracellular loops
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to Drosophila segment polarity gene patched (PTC) 2
    homolog to murine Ptch2
    intraspecies homolog to PTCH
    Homologene
    FAMILY
  • patched family
  • CATEGORY signaling , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in SHH/PTCH cell signaling
  • having a tumour-suppressor function
  • novel role for PTCH2 as a ciliary localized HH pathway antagonist
  • essential role for ligand-dependent feedback inhibition of vertebrate HH signaling governed collectively by PTCH1, PTCH2 and HHIP
  • potent tumor suppressor with a role in embryonic development
  • PTCH1 and PTCH2 co-operate in regulating cellular responses to SHH
  • PTCH1/PTCH2 mediate likely secretion of a SMO-inhibitory cholesterol precursor
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text spermatogenesis epidermal differentiation
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
  • component of a complex with SMOH and likely with Desert hedgehog receptor
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to all hedgehog family members
  • receptor for SHH, a secreted molecule implicated in the formation of embryonic structures and as a tumour-suppressor gene
  • is a functional SHH receptor, which regulates SMO localization and activity
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BCNS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in basal cell carcinoma and medulloblastoma
    tumoral germinal mutation      
    in Naevoid basal cell carcinoma syndrome (NBCCS)
    constitutional       loss of function
    concomitant loss of PTCH1 and PTCH2 activity inhibits epidermal lineage specification and differentiation
    Susceptibility to macrostomia
    Variant & Polymorphism other germline PTCH2 mutation (1423G A, resulting in Val471Ile) mutation may be associated with macrostomia (fan 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • direct link between overproliferation and retinal dysplasia in the ptc2 -/- juvenile zebrafish retina