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Ptch2 patched 2 [ Mus musculus (house mouse) ]

Gene ID: 19207, updated on 5-Mar-2024

Summary

Official Symbol
Ptch2provided by MGI
Official Full Name
patched 2provided by MGI
Primary source
MGI:MGI:1095405
See related
Ensembl:ENSMUSG00000028681 AllianceGenome:MGI:1095405
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
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Genomic context

See Ptch2 in Genome Data Viewer
Location:
4 D1; 4 53.41 cM
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (116953253..116973298)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (117096056..117116101)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:116691908-116692017 Neighboring gene tetraspanin 17 pseudogene Neighboring gene eukaryotic translation initiation factor 2B, subunit 3 Neighboring gene predicted gene, 22335 Neighboring gene STARR-seq mESC enhancer starr_11152 Neighboring gene Ptch2 Hedgehog-responsive enhancers Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:116793139-116793326 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:116797070-116797223 Neighboring gene BTB domain containing 19 Neighboring gene STARR-positive B cell enhancer ABC_E2707 Neighboring gene dynein light chain Tctex-type 4 Neighboring gene polo like kinase 3

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables hedgehog family protein binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables hedgehog family protein binding ISO
Inferred from Sequence Orthology
more info
 
enables hedgehog receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables hedgehog receptor activity IEA
Inferred from Electronic Annotation
more info
 
enables smoothened binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables smoothened binding ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
protein patched homolog 2
Names
patched homolog 2

NCBI Reference Sequences (RefSeq)

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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
    A2AE82, O35595, Q546T0
    Related
    ENSMUSP00000030443.6, ENSMUST00000030443.12
    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: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    116953253..116973298
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)