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Ptch2 patched 2 [ Mus musculus (house mouse) ]

Gene ID: 19207, updated on 23-May-2018
Official Symbol
Ptch2provided by MGI
Official Full Name
patched 2provided by MGI
Primary source
MGI:MGI:1095405
See related
Ensembl:ENSMUSG00000028681 Vega:OTTMUSG00000009923
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ptc2
Summary
This gene encodes a member of the patched family of transmembrane receptor proteins. The encoded protein may be a functional receptor for the morphogen sonic hedgehog (Shh) and is reportedly involved in limb and skin development. Homozygous mutant mice for this gene exhibit hair loss and epidermal hyperplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Expression
Broad expression in genital fat pad adult (RPKM 12.0), subcutaneous fat pad adult (RPKM 9.5) and 18 other tissues See more
Orthologs
See Ptch2 in Genome Data Viewer
Location:
4 D1; 4 53.41 cM
Exon count:
23
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 4 NC_000070.6 (117095780..117116101)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (116768961..116787436)

Chromosome 4 - NC_000070.6Genomic Context describing neighboring genes Neighboring gene tetraspanin 17 pseudogene Neighboring gene eukaryotic translation initiation factor 2B, subunit 3 Neighboring gene BTB (POZ) domain containing 19 Neighboring gene Tctex1 domain containing 4 Neighboring gene polo like kinase 3

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Basal cell carcinoma, organism-specific biosystem (from KEGG)
    Basal cell carcinoma, organism-specific biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • Basal cell carcinoma, conserved biosystem (from KEGG)
    Basal cell carcinoma, conserved biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • Hedgehog Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Hedgehog Signaling Pathway, organism-specific biosystemThe Hedgehog proteins are a family of secreted ligands that include sonic hedgehog, Indian hedgehog and desert hedgehog in humans. Binding of Hedgehog ligands to their receptors, Patched 1 and 2, pre...
  • Hedgehog signaling pathway, organism-specific biosystem (from KEGG)
    Hedgehog signaling pathway, organism-specific biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
  • Hedgehog signaling pathway, conserved biosystem (from KEGG)
    Hedgehog signaling pathway, conserved biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
hedgehog family protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hedgehog family protein binding ISO
Inferred from Sequence Orthology
more info
 
hedgehog receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hedgehog receptor activity IEA
Inferred from Electronic Annotation
more info
 
smoothened binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
smoothened binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
cell fate determination IGI
Inferred from Genetic Interaction
more info
PubMed 
epidermal cell fate specification IGI
Inferred from Genetic Interaction
more info
PubMed 
epidermis development IMP
Inferred from Mutant Phenotype
more info
PubMed 
hair cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of epidermal cell differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
skin development IMP
Inferred from Mutant Phenotype
more info
PubMed 
smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Preferred Names
protein patched homolog 2
Names
patched homolog 2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001312903.1NP_001299832.1  protein patched homolog 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in its 5' UTR, resulting in the use of a downstream translation start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AK042653, BC058397, CJ056518
    Conserved Domains (2) summary
    TIGR00918
    Location:1820
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam12349
    Location:96248
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
  2. NM_008958.3NP_032984.1  protein patched homolog 2 isoform 1

    See identical proteins and their annotated locations for NP_032984.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK042653, BC058397, CF733501, CJ056518
    Consensus CDS
    CCDS18526.1
    UniProtKB/Swiss-Prot
    O35595
    Related
    ENSMUSP00000030443.5, OTTMUSP00000010515, ENSMUST00000030443.11, OTTMUST00000023049
    Conserved Domains (3) summary
    TIGR00918
    Location:121142
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam07698
    Location:9611085
    7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
    pfam12349
    Location:418570
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000070.6 Reference GRCm38.p4 C57BL/6J

    Range
    117095780..117116101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011240476.2XP_011238778.1  protein patched homolog 2 isoform X4

    Conserved Domains (2) summary
    TIGR00918
    Location:12731
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam12349
    Location:418570
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
  2. XM_011240471.2XP_011238773.1  protein patched homolog 2 isoform X2

    Conserved Domains (3) summary
    TIGR00918
    Location:121174
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam07698
    Location:9931117
    7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
    pfam12349
    Location:411563
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
  3. XM_011240470.2XP_011238772.1  protein patched homolog 2 isoform X1

    Conserved Domains (3) summary
    TIGR00918
    Location:121181
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam07698
    Location:10001124
    7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
    pfam12349
    Location:418570
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
  4. XM_011240472.1XP_011238774.1  protein patched homolog 2 isoform X3

    See identical proteins and their annotated locations for XP_011238774.1

    Conserved Domains (3) summary
    TIGR00918
    Location:1859
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam07698
    Location:678802
    7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
    pfam12349
    Location:96248
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
  5. XM_011240473.1XP_011238775.1  protein patched homolog 2 isoform X3

    See identical proteins and their annotated locations for XP_011238775.1

    Conserved Domains (3) summary
    TIGR00918
    Location:1859
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam07698
    Location:678802
    7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
    pfam12349
    Location:96248
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

RNA

  1. XR_867827.2 RNA Sequence

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