Ptch2 patched 2 [Mus musculus (house mouse)] - Gene

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: human all
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Genomic context

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression pattern of Ptch2 in mouse embryonic maxillofacial development.
Title: Expression pattern of Ptch2 in mouse embryonic maxillofacial development.
Using primordial germ cell migration in mouse as a developmental model study demonstrates that specific heterocomplexes of Ptch2/Gas1 and Ptch1/Boc mediate the process of Smo de-repression with different kinetics. Moreover, Ptch2-mediated Hedgehog signalling induces the phosphorylation of Creb and Src proteins in parallel to Gli induction, identifying a previously unknown Ptch2-specific signal pathway.
Title: Ptch2/Gas1 and Ptch1/Boc differentially regulate Hedgehog signalling in murine primordial germ cell migration.
Results show that hedgehog protein (Hedgehog) receptors patched 1 protein (Ptch1) and patched 2 protein (Ptch2) elicit independent responses, which enable multimodal Hedgehog signaling to simultaneously regulate epithelial stem cells (SCs) maintenance and differentiation.
Title: Functionally Distinctive Ptch Receptors Establish Multimodal Hedgehog Signaling in the Tooth Epithelial Stem Cell Niche.
However, genetic removal of Ptch2 in our Ptch12/2MMmice did not affect the severity of the observed phenotype. This suggests that Ptch2 does not play a functional role in regulating HH signaling activity during kidney development, but serves as a specific marker of the onset ofUPJO.
Title: Activated Hedgehog-GLI Signaling Causes Congenital Ureteropelvic Junction Obstruction.
The N-terminal and C-terminal of Ptch2 interacted noncovalently but did not repress the Hh pathway.
Title: The protein-specific activities of the transmembrane modules of Ptch1 and Ptch2 are determined by their adjacent protein domains.
during Hedgehog signaling, ligand binding inhibits Patched by trapping it in an inactive conformation, a mechanism that explains the dramatically reduced activity of oncogenic Patched1 mutants.
Title: Mechanism of inhibition of the tumor suppressor Patched by Sonic Hedgehog.
These findings support a model in which Ptch1/2 mediate secretion of a Smo-inhibitory cholesterol precursor.
Title: Patched1 and Patched2 inhibit Smoothened non-cell autonomously.
Ptch2(-/-) niche cells show hyperactive noncanonical HH signaling, resulting in reduced production of essential HSC regulators (Scf, Cxcl12, and Jag1) and depletion of osteoblasts.
Title: Ptch2 loss drives myeloproliferation and myeloproliferative neoplasm progression.
Ptch2 is a functional Shh receptor that shares overlapping functions with Ptch1 in Smo regulation and limb development.
Title: Ptch2 shares overlapping functions with Ptch1 in Smo regulation and limb development.
Ptch1(-/-);Ptch2(-/-) cells cannot further activate the Shh response, demonstrating that Ptch2 mediates the response to Shh in the absence of Ptch1.
Title: Ptch2 mediates the Shh response in Ptch1-/- cells.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Gene trapped (1)
Targeted (6) 1 citation

General gene information

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Markers

Ptch2 (e-PCR), detects polymorphism
- UniSTS:465491

Ptch2 (e-PCR), detects polymorphism
- UniSTS:496013

MARC_23422-23423:1025023955:3 (e-PCR)
- UniSTS:268693

NoName (e-PCR)
- UniSTS:548506

Ptch2 (e-PCR), detects polymorphism
- UniSTS:547823

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 smoothened binding	IBA Inferred from Biological aspect of Ancestor more info
enables smoothened binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell fate determination	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within epidermal cell fate specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within epidermis development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hair cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of smoothened signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of epidermal cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of cell growth	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skin development	IMP Inferred from Mutant Phenotype more info	PubMed

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

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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)

NM_001312903.1 → NP_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:1 → 820

2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family

pfam12349
Location:96 → 248

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
NM_008958.3 → NP_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:12 → 1142

2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family

pfam07698
Location:961 → 1085

7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase

pfam12349
Location:418 → 570

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation