2. Gene
  3. PTCH2 - patched 2 Gene

PTCH2 - patched 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PTC2

Gene ID: 8643 | Gene type: protein coding

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 Reference 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 Reference 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11357 PTCH2 Human Pre-designed siRNA Set A Pre-designed Sets / 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