SMO - smoothened, frizzled class receptor Gene

中文名称：光滑的，卷曲的类受体

种属: Homo sapiens

同用名: Gx; CRJS; PHLS; SMOH; FZD11

基因 ID: 6608 | 基因类型: protein coding

关于 SMO

Cytogenetic location: 7q32.1 Genomic coordinates (GRCh38): 7:129,188,633-129,213,545 (from NCBI)

This gene has 5 transcripts (splice variants), 204 orthologues, 15 paralogues and is associated with 118 phenotypes. Broad expression in ovary (RPKM 15.6), endometrium (RPKM 13.9) and 24 other tissues.

功能概要

该基因编码的蛋白质是一种 G 蛋白偶联受体，它与修补蛋白相互作用，修补蛋白是刺猬蛋白的受体。在被刺猬蛋白/修补蛋白复合物激活后，编码的蛋白质将信号转导给其他蛋白质。[RefSeq 提供，2010 年 7 月]

The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for Hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a Hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010]

SMO 基因产物(2)

mRNA	Protein	Name
NM_005631.5	NP_005622.1	smoothened homolog precursor
XM_047420759.1	XP_047276715.1	smoothened homolog isoform X1

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables cAMP-dependent protein kinase inhibitor activity	IDA IDA: 通过直接分析推断	36202993	GOA
enables patched binding	IPI IPI: 通过物理相互作用推断	9811851	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	19592253	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in contact inhibition	IMP IMP: 通过突变表型推断	9422511	GOA
involved in positive regulation of cell migration	IMP IMP: 通过突变表型推断	21671467	GOA
involved in positive regulation of gene expression	IMP IMP: 通过突变表型推断	21671467	GOA
involved in smooth muscle tissue development	IEP IEP: 通过表达模式推断	17850284	GOA
involved in smoothened signaling pathway	IDA IDA: 通过直接分析推断	36202993	GOA
involved in smoothened signaling pathway	IEP IEP: 通过表达模式推断	17850284	GOA
involved in smoothened signaling pathway	IMP IMP: 通过突变表型推断	9422511	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
colocalizes with Golgi apparatus	IDA IDA: 通过直接分析推断	11278759	GOA
colocalizes with caveola	IDA IDA: 通过直接分析推断	11278759	GOA
located in cilium	IDA IDA: 通过直接分析推断	27727273	GOA
located in intracellular membrane-bounded organelle	IDA IDA: 通过直接分析推断	11278759	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	19304771	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

SMO 蛋白结构

Frizzled

0
200
400
600
787 a.a.

蛋白主名

其他名称

smoothened homolog

frizzled family member 11	protein Gx
seven transmembrane helix receptor	smoothened, frizzled family receptor
smoothened, seven transmembrane spanning receptor

关联疾病

疾病名称

别名

Joubert Syndrome 32

JBTS32

Skull Base Meningioma

Meningioma Of The Skull Base

Medullomyoblastoma

Brain Meningioma

Intracranial Meningioma

Hirschsprung Disease 1

Hirschsprung Disease	Aganglionic Megacolon
Hscr	Congenital Megacolon
Colonic Aganglionosis	Hirschsprung Disease, Susceptibility To, 1
Hirschsprung Disease, Protection Against	Hirschsprung'S Disease
Congenital Intestinal Aganglionosis	HSCR1
Mgc	Pelvirectal Achalasia
Total Intestinal Aganglionosis	Megacolon, Aganglionic
Macrocolon	Hscr 1
Hirschsprung Disease Type 1	Hirschsprung Disease, Type 1
Congenital Dilatation Of Colon	Aganglionosis
Congenital Aganglionic Megacolon	Aganglionosis Of Colon
Bowel Aganglionosis	Colon Aganglionosis
Hirschsprung Megacolon

Pallister-Hall Syndrome

PHS	Hypothalamic Hamartomas
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly	Hypothalamic Hamartoblastoma Syndrome
Hamartoma Of The Hypothalamus	Pallister Hall Syndrome
Hall-Pallister Syndrome	Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly
Hamartoma, Hypothalamic

Holoprosencephaly

Holoprosencephaly Sequence	Hpe
Hpe - [Holoprosencephaly]

Alkaptonuria

Homogentisic Acid Oxidase Deficiency	Alcaptonuria
AKU	Deficiency Of Homogentisicase
Homogentisate 1,2-Dioxygenase Deficiency	Alkaptonuric Ochronosis
Homogentisic Acidura	Ochronosis, Hereditary
Hereditary Ochronosis	Ochronosis
Homogentisicaciduria	Deficiency Of Homogentisate Oxygenase

Cerebral Meningioma

Meningioma Of Cerebrum

Ameloblastoma

Adenoameloblastoma

Pallister-Hall-Like Syndrome

Hamartoma Of Hypothalamus	PHLS
Hypothalamic Hamartomas

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

Holoprosencephaly 7

HPE7	Holoprosencephaly-7
Holoprosencephaly, Type 7

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

Hydrolethalus Syndrome 2

HLS2	Hydrolethalus Syndrome, Type 2

Curry-Jones Syndrome

Craniofacial Malformations, Asymmetric, With Polysyndactyly And Abnormal Skin And Gut Development	CRJS
Curry-Jones Syndrome, Somatic Mosaic	Curry Jones Syndrome
Corpus Callosum Agenesis Polysyndactyly	Corpus Callosum Agenesis-Polysyndactyly Syndrome
Winter Shortland Temple Syndrome

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

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Protection Against	Lung Cancer, Susceptibility To
Adenocarcinoma Of Lung, Somatic	Nonsmall Cell Lung Cancer
Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

Medulloblastoma

MDB	Cpnet
Localized Primitive Neuroectodermal Tumor	Classic Medulloblastoma
Desmoplastic/Nodular Medulloblastoma	Medulloblastoma With Extensive Nodularity
Desmoplastic Medulloblastoma	Medulloblastoma, Somatic
Medulloblastoma, Desmoplastic	Brain Medulloblastoma
Cns Pnet	Infratentorial Primitive Neuroectodermal Tumor
Mben	Medulloblastoma Desmoplastic
Neuroectodermal Tumors, Primitive	Medulloblastomas
Medulloblastoma, With Extensive Nodularity	Medulloblastoma Of Unspecified Site
Medullomyoblastoma Of Unspecified Site

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

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

目录号	产品名	作用方式	纯度	是否罕见病
HY-16582A	Sonidegib	Antagonist	99.94%	是
HY-16391	Glasdegib	Inhibitor	99.31%	是
HY-16582	Sonidegib diphosphate	Antagonist	99.73%	是
HY-B0877	Halcinonide	Agonist	99.56%	否
HY-B0603	Fluticasone	Agonist	/	否
HY-16391A	Glasdegib maleate	Inhibitor	/	否

目录号	产品名	作用方式	纯度	Phase
HY-16587	Saridegib	Inhibitor	99.87%	Phase 3
HY-13242	Taladegib	Inhibitor	99.57%	Phase 2
HY-13809	BMS-833923	Inhibitor	98.11%	Phase 2

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-12848	SAG	Agonist	99.79%	否
HY-17024	Cyclopamine	Inhibitor	99.97%	否
HY-15108	Purmorphamine	Activator	99.9%	否
HY-12848B	SAG hydrochloride	Agonist	99.63%	否
HY-100224	SANT-1	Antagonist	99.87%	否
HY-15483	DY131	Inhibitor	99.72%	否
HY-12848C	SAG dihydrochloride	Agonist	99.56%	否
HY-12316	20(S)-Hydroxycholesterol	Activator	98.70%	否
HY-100535	KAAD-Cyclopamine	Antagonist	≥96.0%	否
HY-12317	GSA-10	Agonist	98.01%	否
HY-18636	LEQ506	Inhibitor	98.15%	否
HY-15412	HhAntag		99.40%	否
HY-N0836	Jervine	Inhibitor	98.03%	否
HY-145387	MRT-81	Antagonist	99.85%	否
HY-13459	PF-5274857	Antagonist	98.89%	否
HY-100036	MK-4101	Antagonist	98.31%	否
HY-117407	ALLO-2	Antagonist	99.72%	否
HY-113965	CUR61414	Inhibitor	99.04%	否
HY-108508	SMANT hydrochloride	Inhibitor	99.90%	否
HY-18287A	MRT-83 hydrochloride	Antagonist	99.60%	否
HY-108507	MRT-10	Antagonist	98.99%	否
HY-18287	MRT-83	Antagonist	99.27%	否
HY-N0247	Saikosaponin B1	Inhibitor	99.42%	否
HY-12848R	SAG (Standard)	Agonist	/	否
HY-15108G	Purmorphamine (GMP)	Agonist	/	否
HY-12848A	(Rac)-SAG	Agonist	/	否
HY-12848S	SAG-d3	Inhibitor	99.85%	否
HY-147743	SMO-IN-1	Inhibitor	/	否
HY-13459A	PF-5274857 hydrochloride	Antagonist	/	否
HY-145918	MRT-14	Antagonist	98.91%	否
HY-147744	AZD7254	Inhibitor	/	否
HY-153499	SMO-IN-4	Antagonist	/	否
HY-150564	SMO-IN-2	Inhibitor	98.12%	否
HY-131016	IHR-Cy3	Antagonist	/	否
HY-159893	SMO-IN-5	Inhibitor	/	否
HY-147670	TPB15	Inhibitor	/	否
HY-150567	SMO-IN-3	Inhibitor	/	否
HY-162372	Hedgehog IN-6	Inhibitor	/	否
HY-162273	Antibacterial agent 189		/	否
HY-148440	RL-0070933	Modulator	/	否
HY-115566	S1PL-IN-1	Antagonist	/	否
HY-16391B	Glasdegib hydrochloride	Inhibitor	/	否
HY-12316R	20(S)-Hydroxycholesterol (Standard)	Activator	/	否
HY-120499	AZD8542	Antagonist	/	否
HY-110240	IHR-1	Antagonist	98.05%	否
HY-137115	BODIPY-Cyclopamine		/	否
HY-117903A	MRT-92	Antagonist	/	否
HY-16587A	Saridegib hydrochloride	Inhibitor	/	否
HY-123752	MS-0022	Antagonist	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	SMO	VGNC	VGNC:46565
Mus musculus	SMO	MGD	MGI:108075
Felis catus	SMO	VGNC	VGNC:80721
Bos taurus	SMO	VGNC	VGNC:35025
Rattus norvegicus	SMO	RGD	RGD:3726
Macaca mulatta	SMO	VGNC	VGNC:77658
Others	SMO	NCBI

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