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Gene : PTCH2 Homo sapiens

Name  ? patched 2 Cytological Location  1p34.1
Brief Description  patched 2
Description  This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
  • synonyms:
  • HGNC:9586,
  • OTTHUMG00000008490,
  • PTCH2,
  • PTC2,
  • uc010olf.3,
  • NM_003738,
  • patched homolog 2 (Drosophila),
  • patched (Drosophila) homolog 2,
  • AF091501
  • identifiers:
  • 8643,
  • ENSG00000117425,
  • PTCH2

Genome feature

Region: gene ? Length: 23410  
Location: 1:44819844-44843253 reverse strand Cyto location: 1p34.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

204 SN Ps

5 Cross References

19 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results