SMO smoothened, frizzled class receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: SMOprovided by HGNC
Official Full Name: smoothened, frizzled class receptorprovided by HGNC
Primary source: HGNC:HGNC:11119
See related: Ensembl:ENSG00000128602 MIM:601500
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Gx; CRJS; PHLS; SMOH; FZD11
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]
Expression: Broad expression in ovary (RPKM 15.6), endometrium (RPKM 13.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q32.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	7	NC_000007.14 (129188633..129213548)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (128828474..128853386)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cholesterol access in cellular membranes controls Hedgehog signaling.
Title: Cholesterol access in cellular membranes controls Hedgehog signaling.
Sterols in an intramolecular channel of Smoothened mediate Hedgehog signaling.
Title: Sterols in an intramolecular channel of Smoothened mediate Hedgehog signaling.
Smoothened Promotes Glioblastoma Radiation Resistance Via Activating USP3-Mediated Claspin Deubiquitination.
Title: Smoothened Promotes Glioblastoma Radiation Resistance Via Activating USP3-Mediated Claspin Deubiquitination.
Molecular basis of drug resistance in smoothened receptor: An in silico study of protein resistivity and specificity.
Title: Molecular basis of drug resistance in smoothened receptor: An in silico study of protein resistivity and specificity.
Circular RNA SMO sponges miR-338-3p to promote the growth of glioma by enhancing the expression of SMO.
Title: Circular RNA SMO sponges miR-338-3p to promote the growth of glioma by enhancing the expression of SMO.
[Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios].
Title: [Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios].
Establishment of a Gorlin syndrome model from induced neural progenitor cells exhibiting constitutive GLI1 expression and high sensitivity to inhibition by smoothened (SMO).
Title: Establishment of a Gorlin syndrome model from induced neural progenitor cells exhibiting constitutive GLI1 expression and high sensitivity to inhibition by smoothened (SMO).
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Title: Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Association between SNPs and Loss of Methylation Site on the CpG island of the Promoter Region of the Smoothened Gene, Potential Molecular Markers for Susceptibility to the Development of Basal Cell Carcinoma in the Brazilian Population.
Title: Association between SNPs and Loss of Methylation Site on the CpG island of the Promoter Region of the Smoothened Gene, Potential Molecular Markers for Susceptibility to the Development of Basal Cell Carcinoma in the Brazilian Population.
High SMO expression is associated with Myelodysplastic Syndrome.
Title: Sonic hedgehog signaling pathway in Myelodysplastic Syndrome: Abnormal activation and jervine intervention.

Submit: New GeneRIF Correction See all GeneRIFs (112)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
BCC1 MedGen: C2751544 OMIM: 605462 GeneReviews: Not available	Compare labs
Curry-Jones syndrome MedGen: C0795915 OMIM: 601707 GeneReviews: Not available	Compare labs
Hamartoma of hypothalamus MedGen: C0342418 OMIM: 241800 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_16819-16820:1021560442:1 (e-PCR)
- UniSTS:268130

RH121944 (e-PCR)
- UniSTS:95082

RH12557 (e-PCR)
- UniSTS:37016

RH16231 (e-PCR)
- UniSTS:31427

SMO_853 (e-PCR)
- UniSTS:277755

SMO_V157 (e-PCR)
- UniSTS:277755

Homology

Homologs of the SMO gene: The SMO gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 343 organisms have orthologs with human gene SMO
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
patched binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
patched binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
astrocyte activation	IEA Inferred from Electronic Annotation more info
atrial septum morphogenesis	IEA Inferred from Electronic Annotation more info
cell fate specification	IEA Inferred from Electronic Annotation more info
cellular response to cholesterol	ISS Inferred from Sequence or Structural Similarity more info
central nervous system development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
central nervous system neuron differentiation	IEA Inferred from Electronic Annotation more info
cerebellar cortex morphogenesis	IEA Inferred from Electronic Annotation more info
cerebral cortex development	IEA Inferred from Electronic Annotation more info
commissural neuron axon guidance	IBA Inferred from Biological aspect of Ancestor more info	PubMed
contact inhibition	IMP Inferred from Mutant Phenotype more info	PubMed
dentate gyrus development	IEA Inferred from Electronic Annotation more info
determination of left/right asymmetry in lateral mesoderm	ISS Inferred from Sequence or Structural Similarity more info
dorsal/ventral neural tube patterning	IEA Inferred from Electronic Annotation more info
epithelial-mesenchymal cell signaling	IEA Inferred from Electronic Annotation more info
forebrain morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
hair follicle morphogenesis	IEA Inferred from Electronic Annotation more info
heart looping	ISS Inferred from Sequence or Structural Similarity more info
homeostasis of number of cells within a tissue	IEA Inferred from Electronic Annotation more info
in utero embryonic development	IEA Inferred from Electronic Annotation more info
left/right axis specification	IEA Inferred from Electronic Annotation more info
mammary gland epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
mesenchymal to epithelial transition involved in metanephric renal vesicle formation	ISS Inferred from Sequence or Structural Similarity more info
midgut development	ISS Inferred from Sequence or Structural Similarity more info
multicellular organism growth	IEA Inferred from Electronic Annotation more info
myoblast migration	IEA Inferred from Electronic Annotation more info
negative regulation of DNA binding	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
negative regulation of epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
negative regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of hair follicle development	IEA Inferred from Electronic Annotation more info
negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
neural crest cell migration	IEA Inferred from Electronic Annotation more info
odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
osteoblast differentiation	IEA Inferred from Electronic Annotation more info
pancreas morphogenesis	IEA Inferred from Electronic Annotation more info
positive regulation of branching involved in ureteric bud morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of hh target transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of mesenchymal cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
positive regulation of neuroblast proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of organ growth	IEA Inferred from Electronic Annotation more info
positive regulation of protein import into nucleus	IEA Inferred from Electronic Annotation more info
positive regulation of smoothened signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
protein localization to nucleus	IEA Inferred from Electronic Annotation more info
protein stabilization	IEA Inferred from Electronic Annotation more info
regulation of heart morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
regulation of stem cell population maintenance	IEA Inferred from Electronic Annotation more info
skeletal muscle fiber development	IEA Inferred from Electronic Annotation more info
smooth muscle tissue development	IEP Inferred from Expression Pattern more info	PubMed
smoothened signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
smoothened signaling pathway	IEP Inferred from Expression Pattern more info	PubMed
smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	IEA Inferred from Electronic Annotation more info
smoothened signaling pathway involved in ventral spinal cord patterning	IEA Inferred from Electronic Annotation more info
somite development	ISS Inferred from Sequence or Structural Similarity more info
thalamus development	IEA Inferred from Electronic Annotation more info
type B pancreatic cell development	IEA Inferred from Electronic Annotation more info
vasculogenesis	IEA Inferred from Electronic Annotation more info
ventral midline determination	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
9+0 non-motile cilium	IEA Inferred from Electronic Annotation more info
colocalizes_with Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with caveola	IDA Inferred from Direct Assay more info	PubMed
ciliary membrane	TAS Traceable Author Statement more info
ciliary tip	TAS Traceable Author Statement more info
cilium	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cilium	IDA Inferred from Direct Assay more info	PubMed
cilium	ISS Inferred from Sequence or Structural Similarity more info
cilium	TAS Traceable Author Statement more info	PubMed
dendrite	IBA Inferred from Biological aspect of Ancestor more info	PubMed
endocytic vesicle membrane	TAS Traceable Author Statement more info
extracellular exosome	HDA more info	PubMed
integral component of membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: smoothened homolog

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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023340.2 RefSeqGene

Range

4762..29674

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1393

mRNA and Protein(s)

NM_005631.5 → NP_005622.1 smoothened homolog precursor

See identical proteins and their annotated locations for NP_005622.1

Status: REVIEWED

Source sequence(s)

AC011005

Consensus CDS

CCDS5811.1

UniProtKB/Swiss-Prot

Q99835

Related

ENSP00000249373.3, ENST00000249373.8

Conserved Domains (2) summary

cd07451
Location:66 → 196

CRD_SMO; Cysteine-rich domain of the smoothened receptor (Smo) integral membrane protein

pfam01534
Location:221 → 550

Frizzled; Frizzled/Smoothened family membrane region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p13 Primary Assembly

Range

129188633..129213548

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024446891.1 → XP_024302659.1 smoothened homolog isoform X1

Conserved Domains (2) summary

cd15030
Location:90 → 420

7tmF_SMO_homolog; class F smoothened family membrane region, a homolog of frizzled receptors

cl02447
Location:1 → 66

CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain