Ptch2
Gene Detail

Symbol Name ID

Ptch2 patched homolog 2 MGI:1095405

Synonyms

ptc2

Feature Type

protein coding gene

Genetic Map

Chromosome 4

53.41 cM, cytoband C-D
Detailed Genetic Map ± 1 cM


Mapping data(4)

Sequence Map

Chr4:117096075-117116101 bp, + strand From VEGA annotation of GRCm38   20027 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Mammalian homology

human; cattle; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Ptch2 ± 2 cM)

Gene Tree: Ptch2

Human ortholog

PTCH2 patched 2 NCBI Gene ID 8643
Human Synonyms: PTC2
Human Chr1:45285516-45308616 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human PTCH2 (2)

Alleles and phenotypes

All alleles(19) : Targeted(7) Gene trapped(12)
 

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.

 
Human Diseases Modeled Using Mouse Ptch2 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (10 annotations)

Process	epidermis development, hair cycle, ...
Component	integral to membrane, membrane
Function	hedgehog family protein binding, hedgehog receptor activity, ...

External Resources: FuncBase

Expression

Literature Summary: (50 records)
Data Summary: Results (221)    Tissues (126)    Images (82)
Theiler Stages: 2, 3, 13, 15, 17, 19, 20, 21, 22, 23, 25, 28

Assay Type	Results
RNA in situ	75
In situ reporter (knock in)	58
RT-PCR	88

cDNA source data(26)
External Resources: GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(33) Genomic(1) cDNA(26) Primer pair(4) Other(2)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000009923 (Evidence)
Ensembl Gene Model	ENSMUSG00000028681 (Evidence)
Entrez Gene	19207 (Evidence)
UniGene	287037
DFCI	TC1597195, TC1675104
DoTS	DT.101720535, DT.485910, DT.94172332
NIA Mouse Gene Index	U004705
Consensus CDS Project	CCDS18526.1
International Mouse Knockout Project Status	Ptch2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000009923	VEGA Gene Model | MGI Sequence Detail	20027	C57BL/6J
transcript	OTTMUST00000023049	VEGA | MGI Sequence Detail	4382	Not Applicable
polypeptide	OTTMUSP00000010515	VEGA | MGI Sequence Detail	1182	Not Applicable

All sequences(42) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(144 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003392	Patched
InterPro	IPR000731	Sterol-sensing domain
InterPro	IPR004766	Transmembrane receptor, patched
Protein Ontology	PR:000013413	protein patched 2

References

(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:191130 Maynard TM, et al., 22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development. Hum Mol Genet. 2013 Jan 15;22(2):300-12
All references(82)