Official Symbol

SMOprovided by HGNC

Official Full Name

smoothened homolog (Drosophila)provided by HGNC

Primary source

HGNC:11119

See related

Ensembl:ENSG00000128602; HPRD:03294; MIM:601500

Gene type

protein coding

RefSeq status

PROVISIONAL

Organism

Homo sapiens

Lineage

Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Also known as

Gx; SMOH; SMO

Go to reference sequence detailsTry our new Sequence Viewer

chromosome: 7; Location: 7q32.3See SMO in MapViewer

Related Articles in PubMed

GeneRIFs: Gene References Into FunctionWhat's a GeneRIF?

	1.	The interactions of small molecule agonists and antagonists with SMO were characterized.
	2.	Observational study of gene-disease association. (HuGE Navigator)
	3.	Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
	4.	Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
	5.	Constitutive activation of the hedgehog signaling pathway in chondrosarcoma is rarely caused by SMO protein mutation.
	6.	mutations are rare in SMO in sporadic and nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumors
	7.	Smo mutants augment p53 binding to the E3 ubiquitin-protein ligase Mdm2 and promote p53 ubiquitination.
	8.	Significantly high levels of ultraviolet-specific mutations in the smoothened gene are found in basal cell carcinomas from DNA repair-deficient xeroderma pigmentosum patients.
	9.	beta-Arrestin 2 and GRK2 are potential mediators of signaling by activated Smoothened
	10.	the upstream part of the Hedgehog pathway involving Hedgehog interaction with Patched, regulation of Smoothened by Patched, and Smoothened enrichment at the plasma membrane is highly conserved between Drosophila and humans
	11.	results suggest that the Ptc tumour suppressor functions normally as a transmembrane molecular transporter, which acts indirectly to inhibit Smo activity
	12.	aberrant expressions of PTCH and Smo were common in pancreatic carcinoma tissues & were associated with low-level differentiation of tumor tissue & hyperglycemia; this indicated that these molecules played a fundamental role in pancreas tumorigenesis
	13.	overexpression and/or tumorigenic activation of the Smo proto-oncogene mediates c-myc overexpression which plays a critical role in hepatocarcinogenesis; study suggests that Smo is a prognostic factor in HCC tumorigenesis
	14.	smoothened expression in human astrocytic tumors inversely correlates with histological malignancy
	15.	role of the human M2SMO mutant in BCC development in adult transgenic mice
	16.	analysis of Hedgehog modulator properties after functional coupling of Smoothened to G15

Markers

Phenotypes

Pathways

Homology

GeneOntology Provided by GOA

Preferred Names

smoothened

Names

smoothened

seven transmembrane helix receptor

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.

mRNA and Protein(s)

1. NM_005631.3→NP_005622.1 smoothened

   Source sequence(s)

   BC009989

   Consensus CDS

   CCDS5811.1

   UniProtKB/TrEMBL

   A4D1K5

   UniProtKB/Swiss-Prot

   Q99835

   Conserved Domains (3) summary

   pfam01534
   Location:220–554
   Blast Score:1152

   Frizzled; Frizzled/Smoothened family membrane region

   cl09373
   Location:272–433
   Blast Score:97

   7tm_2; 7 transmembrane receptor (Secretin family)

   cl02447
   Location:70–181
   Blast Score:322

   Fz; Fz domain

RefSeqs of Annotated Genomes: Build 37.1

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

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

1. NC_000007.13 Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

   Range

   128828713..128853386

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

2. NT_007933.15

   Range

   66861556..66886229

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

Alternate assembly (CRA_TCAGchr7v2)

Genomic

1. AC_000068.1 Alternate assembly (CRA_TCAGchr7v2)

   Range

   128212668..128237345

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

2. NT_079596.2

   Range

   28248236..28272913

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

1. AC_000050.1 Alternate assembly (Celera)

   Range

   123625432..123650109

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

2. NW_923640.1

   Range

   26384183..26408860

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

1. AC_000139.1 Alternate assembly (HuRef)

   Range

   123214627..123189939, complement

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

2. NW_001839071.2

   Range

   2464576..2439888, complement

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

• MIM 601500
• HPRD 03294
• UCSC UCSC
• UniGene Hs.437846