SMO - smoothened, frizzled class receptor Gene

Also Known as Gx; CRJS; PHLS; SMOH; FZD11

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6608

About 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.

Summary

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 Products (2)

mRNA Protein Name
NM_005631.5 NP_005622.1 smoothened homolog precursor
XM_047420759.1 XP_047276715.1 smoothened homolog isoform X1
Molecular Function GO Annotation Evidence Références Source
enables cAMP-dependent protein kinase inhibitor activity IDA
IDA: Inferred from direct assay
36202993 GOA
enables patched binding IPI
IPI: Inferred from physical interaction
9811851 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19592253 GOA
Biological Process GO Annotation Evidence Références Source
involved in contact inhibition IMP
IMP: Inferred from mutant phenotype
9422511 GOA
involved in positive regulation of cell migration IMP
IMP: Inferred from mutant phenotype
21671467 GOA
involved in positive regulation of gene expression IMP
IMP: Inferred from mutant phenotype
21671467 GOA
involved in smooth muscle tissue development IEP
IEP: Inferred from expression pattern
17850284 GOA
involved in smoothened signaling pathway IDA
IDA: Inferred from direct assay
36202993 GOA
involved in smoothened signaling pathway IEP
IEP: Inferred from expression pattern
17850284 GOA
involved in smoothened signaling pathway IMP
IMP: Inferred from mutant phenotype
9422511 GOA
Cellular Component GO Annotation Evidence Références Source
colocalizes with Golgi apparatus IDA
IDA: Inferred from direct assay
11278759 GOA
colocalizes with caveola IDA
IDA: Inferred from direct assay
11278759 GOA
located in cilium IDA
IDA: Inferred from direct assay
27727273 GOA
located in intracellular membrane-bounded organelle IDA
IDA: Inferred from direct assay
11278759 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
19304771 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

SMO Protein Structure

Fz

Fz: Fz domain (70 - 176)

Frizzled

Frizzled: Frizzled/Smoothened family membrane region (220 - 554)

  • 0
  • 200
  • 400
  • 600
  • 787 a.a.
Protein Preferred Names Protein Names

smoothened homolog

  • frizzled family member 11

  • protein Gx

  • seven transmembrane helix receptor

  • smoothened, frizzled family receptor

  • smoothened, seven transmembrane spanning receptor

SMO Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P811088 Smoothened Antibody WB, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
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

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

Orthologs Information

Species Symbol Source 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