PTCH2 - patched 2 Gene

中文名称：修补 2

种属: Homo sapiens

同用名: PTC2

基因 ID: 8643 | 基因类型: protein coding

关于 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.

功能概要

该基因编码修补基因家族的跨膜受体。编码的蛋白质可能在 Hedgehog 信号通路中起肿瘤抑制因子的作用。该基因的改变与痣样基底细胞癌综合征、基底细胞癌、髓母细胞瘤和先天性巨口症的易感性有关。已经描述了选择性剪接的转录变体。[RefSeq 提供，2009 年 10 月]

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 基因产物(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

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables hedgehog family protein binding	IPI IPI: 通过物理相互作用推断	9811851	GOA
enables smoothened binding	IPI IPI: 通过物理相互作用推断	9811851	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in regulation of cell growth	IMP IMP: 通过突变表型推断	18285427	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PTCH2 蛋白结构

Sterol-sensing

Patched

0
200
400
600
800
1000
1203 a.a.

蛋白主名

其他名称

protein patched homolog 2

patched homolog 2

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11357	PTCH2 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS22751	Ptch2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS25164	Ptch1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS29265	Ptch2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PTCH2 - patched 2 Gene

关于 PTCH2

功能概要

PTCH2 基因产物(2)

PTCH2 蛋白结构

关联疾病

直系同源

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PTCH2 - patched 2 Gene

关于 PTCH2

功能概要

PTCH2 基因产物(2)

PTCH2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

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J

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Q

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