PTCH2 - patched 2 Gene

Also Known as PTC2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8643

About PTCH2

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:44,819,845-44,843,253 (from NCBI)

This gene has 3 transcripts (splice variants), 210 orthologues, 10 paralogues and is associated with 6 phenotypes. Biased expression in salivary gland (RPKM 12.5), testis (RPKM 11.4) and 10 other tissues.

Summary

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]

PTCH2 Products (2)

mRNA Protein Name
NM_001166292.2 NP_001159764.1 protein patched homolog 2 isoform 2
NM_003738.5 NP_003729.3 protein patched homolog 2 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables hedgehog family protein binding IPI
IPI: Inferred from physical interaction
9811851 GOA
enables smoothened binding IPI
IPI: Inferred from physical interaction
9811851 GOA
Biological Process GO Annotation Evidence References Source
involved in regulation of cell growth IMP
IMP: Inferred from mutant phenotype
18285427 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PTCH2 Protein Structure

Sterol-sensing

Sterol-sensing: Sterol-sensing domain of SREBP cleavage-activation (418 - 569)

Patched

Patched: Patched family (914 - 1114)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1203 a.a.
Protein Preferred Names Protein Names

protein patched homolog 2

  • patched homolog 2

Related Diseases

Diseases Alias
Basal Cell Nevus Syndrome

  • Nevoid Basal Cell Carcinoma Syndrome

  • Gorlin Syndrome

  • Nbccs

  • BCNS

  • Gorlin-Goltz Syndrome

  • Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies

  • Cerebral Gigantism Jaw Cysts

  • Cramer Niederdellmann Syndrome

  • Gorlin Syndrome Or Gorlin-Goltz Syndrome

  • Naevoid Basal Cell Carcinoma Syndrome
Medulloblastoma

  • MDB

  • Cpnet

  • Localized Primitive Neuroectodermal Tumor

  • Classic Medulloblastoma

  • Medulloblastoma Predisposition Syndrome

  • Medulloblastoma, Somatic

  • Brain Medulloblastoma

  • Cns Pnet

  • Infratentorial Primitive Neuroectodermal Tumor

  • Neuroectodermal Tumors, Primitive

  • Medulloblastomas

  • Desmoplastic Medulloblastoma

  • Medulloblastoma, With Extensive Nodularity

  • Medulloblastoma Of Unspecified Site

  • Medullomyoblastoma Of Unspecified Site
Macrostomia, Isolated

  • Macrostomia

  • Transverse Facial Cleft

  • Lateral Cleft, Isolated

  • Commissural Cleft, Isolated

  • Transverse Cleft, Isolated

  • Tessier Number 7 Facial Cleft

  • Commissural Facial Cleft

  • Congenital Macrostomia
Basal Cell Carcinoma 1

  • Basal Cell Carcinoma, Susceptibility To, 1

  • Basal Cell Carcinoma

  • BCC1

  • BCC

  • Multiple Basal Cell Carcinoma

  • Non-Syndromic Basal Cell Carcinoma

  • Carcinoma, Basal Cell, Susceptibility To, Type 1

  • Experimental Organism Basal Cell Carcinoma

  • Basal Cell Carcinoma, Multiple
Basal Cell Carcinoma

  • Basal Cell Cancer

  • Basal Cell Neoplasm

  • Basal Cell Carcinoma Of Skin

  • Malignant Basal Cell Tumor

  • Basal Cell Tumor

  • Epithelioma Basal Cell

  • Malignant Basal Cell Neoplasm

  • Rodent Ulcer

  • Carcinoma Basal Cell

  • Neoplasms, Basal Cell

  • Basal Cell Carcinomas

  • Experimental Organism Basal Cell Carcinoma

  • Nodulo-Ulcerative Basal Cell Carcinoma

  • Basalioma

  • Basal Cell Epithelioma Of Skin

  • Bcc - [Basal Cell Carcinoma] Of Skin

  • Rodent Ulcer Of Skin

  • Rodent Ulcer Of Unspecified Site

  • Basal Cell Epithelioma Of Unspecified Site
Glioblastoma Classical Subtype
Focal Dermal Hypoplasia

  • Goltz Syndrome

  • Goltz-Gorlin Syndrome

  • FDH

  • FODH

  • Dhof

  • Goltz Gorlin Syndrome

  • Hypoplasia, Dermal, Focal
Fibroepithelial Basal Cell Carcinoma

  • Fibroepithelioma Of Pinkus

  • Fibroepithelioma Of Pinkus Type

  • Pinkus Tumor
Chromophil Adenoma Of The Kidney

  • Papillary Adenoma Of The Kidney
Basosquamous Carcinoma

  • Carcinoma, Basosquamous

  • Basisquamous Cell Carcinoma

  • Basosquamous Cell Carcinoma

  • Metatypical Carcinoma
Skin Carcinoma

  • Skin Cancer

  • Carcinoma Of Skin

  • Ca - Skin Cancer

  • Cancer Of Skin

  • Malignant Neoplasm Of Skin

  • Melanoma And Non-Melanoma Skin Cancer

  • Skin Cancers

  • Cancer, Skin
Joubert Syndrome 32

  • JBTS32
Desmoplastic Nodular Medulloblastoma

  • Medulloblastoma With Extensive Nodularity

  • Nodular Medulloblastoma

  • Desmoplastic/Nodular Medulloblastoma

  • Mben

  • Medulloblastoma, With Extensive Nodularity
Infratentorial Cancer

  • Infratentorial Neoplasms

  • Brain Neoplasm, Infratentorial

  • Malignant Infratentorial Tumors
Rhabdomyosarcoma
Meningioma, Familial

  • Meningioma

  • Familial Meningioma

  • Meningioma, Familial, Susceptibility To

  • Meningeal Neoplasm

  • Meningeal Neoplasms

  • Meningiomas

  • Meningioma, Nf2-Related, Somatic

  • Meningioma, Sis-Related

  • Meningothelial Cell Tumor

  • Neoplasm Of The Meninges

  • Primary Meningeal Tumor

  • Familial Multiple Meningioma

  • MNGMA

  • Meningioma, Benign, No Icd-O Subtype

  • Intracranial Meningioma

  • Meningothelial Cell Neoplasm

  • Supratentorial Meningioma

  • Primary Neoplasm Of Spinal Meninges

  • Benign Intracranial Meningioma

  • Benign Meningioma

  • Meningeal Tumours

  • Meningeal Sarcoma Of Unspecified Site

  • Meningothelial Sarcoma Of Unspecified Site
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11357 PTCH2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22751 Ptch2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25164 Ptch1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29265 Ptch2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus PTCH2 VGNC VGNC:33492
Macaca mulatta PTCH2 VGNC VGNC:76464
Canis familiaris PTCH2 VGNC VGNC:45133
Felis catus PTCH2 VGNC VGNC:69136
Rattus norvegicus PTCH2 RGD RGD:1309039
Mus musculus PTCH2 MGD MGI:1095405
Others PTCH2 NCBI