Details for: SMO

Gene ID: 6608

Symbol: SMO

Ensembl ID: ENSG00000128602

Description: smoothened, frizzled class receptor

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 5.49
    Marker Score: 2461.5
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 2.55
    Marker Score: 21545.5
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.59
    Marker Score: 1159
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169279
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.29
    Marker Score: 1284.5
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.14
    Marker Score: 4801
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.11
    Marker Score: 547
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.01
    Marker Score: 809
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71810
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48035
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.99
    Marker Score: 21128
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 502
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 456
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 368
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5233
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2734
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 321
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.85
    Marker Score: 3151
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1261
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 701
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.76
    Marker Score: 2175
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 391
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.73
    Marker Score: 559
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.72
    Marker Score: 11313
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.68
    Marker Score: 1390
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.63
    Marker Score: 1489
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.62
    Marker Score: 540
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.61
    Marker Score: 840
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.61
    Marker Score: 3948
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.58
    Marker Score: 384
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.57
    Marker Score: 1866
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.57
    Marker Score: 7489
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.56
    Marker Score: 1220
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 443
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.54
    Marker Score: 172
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.53
    Marker Score: 575
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.53
    Marker Score: 566
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.53
    Marker Score: 221
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.52
    Marker Score: 1232
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.52
    Marker Score: 302
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.52
    Marker Score: 289
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.51
    Marker Score: 2151
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.51
    Marker Score: 983
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.49
    Marker Score: 589.5
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.47
    Marker Score: 407
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.46
    Marker Score: 310
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.46
    Marker Score: 4658
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.45
    Marker Score: 1218
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.45
    Marker Score: 143
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.45
    Marker Score: 936
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.44
    Marker Score: 104
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.44
    Marker Score: 2635
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.44
    Marker Score: 825.5
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.43
    Marker Score: 668.5
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.43
    Marker Score: 4869
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.42
    Marker Score: 456
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.42
    Marker Score: 1140
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 0.41
    Marker Score: 155
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.41
    Marker Score: 434
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.4
    Marker Score: 166
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.39
    Marker Score: 690
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.39
    Marker Score: 1399
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.39
    Marker Score: 258.5
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.39
    Marker Score: 265
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.38
    Marker Score: 355
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.37
    Marker Score: 170
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.36
    Marker Score: 380
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.36
    Marker Score: 101
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.35
    Marker Score: 476
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.35
    Marker Score: 400
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.35
    Marker Score: 199
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.35
    Marker Score: 589
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.35
    Marker Score: 426
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.34
    Marker Score: 109
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.34
    Marker Score: 115
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.33
    Marker Score: 392
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.33
    Marker Score: 7469
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.33
    Marker Score: 85
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.33
    Marker Score: 319
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.32
    Marker Score: 155
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.32
    Marker Score: 218
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.32
    Marker Score: 176
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.32
    Marker Score: 118
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.31
    Marker Score: 92
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.31
    Marker Score: 319
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.31
    Marker Score: 286
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.31
    Marker Score: 1098
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.31
    Marker Score: 99
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.3
    Marker Score: 316
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.3
    Marker Score: 80
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.3
    Marker Score: 178
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.29
    Marker Score: 417
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.29
    Marker Score: 64
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.29
    Marker Score: 141
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.29
    Marker Score: 184
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.29
    Marker Score: 205

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Other Information

**Key Characteristics** 1. **Receptor Function**: SMO acts as a receptor for the Hedgehog ligands, SHH and other related proteins, which bind to the extracellular domain of the receptor. 2. **Signaling Pathway**: The binding of SHH to SMO activates the Hedgehog signaling pathway, which involves the activation of G-proteins and the subsequent modulation of gene expression. 3. **Cellular Localization**: SMO is primarily found on the plasma membrane, where it interacts with SHH and other ligands. 4. **Expression Patterns**: SMO is highly expressed in various cell types, including epithelial cells, neurons, and glial cells, and is involved in numerous biological processes. **Pathways and Functions** The SMO gene is involved in various signaling pathways, including: 1. **Hedgehog Signaling Pathway**: The SMO-HH interaction activates the Hedgehog signaling pathway, which regulates embryonic development, tissue patterning, and organogenesis. 2. **Apoptotic Process**: SMO is involved in regulating apoptosis, particularly in the context of Hedgehog signaling. 3. **Cell Fate Specification**: SMO plays a role in regulating cell fate specification, particularly in the context of neural development and differentiation. 4. **Cell Migration**: SMO is involved in regulating cell migration, particularly in the context of neural crest cell migration and axon guidance. 5. **Differentiation**: SMO is involved in regulating differentiation, particularly in the context of neuronal differentiation and organogenesis. **Clinical Significance** Dysregulation of the SMO gene has been implicated in various diseases, including: 1. **Neurological Disorders**: Mutations in the SMO gene have been associated with neurological disorders, such as holoprosencephaly and other craniofacial abnormalities. 2. **Cancer**: The SMO gene has been implicated in the development and progression of various cancers, including medulloblastoma and other gliomas. 3. **Developmental Abnormalities**: Mutations in the SMO gene have been associated with developmental abnormalities, such as limb abnormalities and other congenital malformations. In conclusion, the SMO gene plays a critical role in regulating various cellular processes, including development, cell fate specification, and signaling pathways. Dysregulation of the SMO gene has been implicated in various diseases, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 119772991

Symbol: SMO_HUMAN

Name: Protein smoothened

UniProtKB Accession Codes:

Q99835 A4D1K5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 2 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 5 DrugCentral 1 EMBL 9 EMDB 5 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 88 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 23 PDBsum 15 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 5 RefSeq 1 SAM 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8906787

Title: The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog.

PubMed ID: 8906787

DOI: 10.1038/384129a0

PubMed ID: 9422511

Title: Activating Smoothened mutations in sporadic basal-cell carcinoma.

PubMed ID: 9422511

DOI: 10.1038/34201

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 19592253

Title: The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development.

PubMed ID: 19592253

DOI: 10.1016/j.cub.2009.06.046

PubMed ID: 21659505

Title: Growth arrest specific 8 (Gas8) and G protein-coupled receptor kinase 2 (GRK2) cooperate in the control of Smoothened signaling.

PubMed ID: 21659505

DOI: 10.1074/jbc.m111.234666

PubMed ID: 22072986

Title: A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.

PubMed ID: 22072986

DOI: 10.1371/journal.pgen.1002358

PubMed ID: 27236920

Title: A recurrent mosaic mutation in SMO, encoding the hedgehog signal transducer smoothened, is the major cause of Curry-Jones syndrome.

PubMed ID: 27236920

DOI: 10.1016/j.ajhg.2016.04.007

PubMed ID: 23636324

Title: Structure of the human smoothened receptor bound to an antitumour agent.

PubMed ID: 23636324

DOI: 10.1038/nature12167

PubMed ID: 35658032

Title: Patched 1 regulates Smoothened by controlling sterol binding to its extracellular cysteine-rich domain.

PubMed ID: 35658032

DOI: 10.1126/sciadv.abm5563

PubMed ID: 24859340

Title: Identification of recurrent SMO and BRAF mutations in ameloblastomas.

PubMed ID: 24859340

DOI: 10.1038/ng.2986

Sequence Information:

  • Length: 787
  • Mass: 86397
  • Checksum: 8B4C459B34D13F83
  • Sequence:
    • MAAARPARGP ELPLLGLLLL LLLGDPGRGA ASSGNATGPG PRSAGGSARR SAAVTGPPPP 
LSHCGRAAPC EPLRYNVCLG SVLPYGATST LLAGDSDSQE EAHGKLVLWS GLRNAPRCWA 
VIQPLLCAVY MPKCENDRVE LPSRTLCQAT RGPCAIVERE RGWPDFLRCT PDRFPEGCTN 
EVQNIKFNSS GQCEVPLVRT DNPKSWYEDV EGCGIQCQNP LFTEAEHQDM HSYIAAFGAV 
TGLCTLFTLA TFVADWRNSN RYPAVILFYV NACFFVGSIG WLAQFMDGAR REIVCRADGT 
MRLGEPTSNE TLSCVIIFVI VYYALMAGVV WFVVLTYAWH TSFKALGTTY QPLSGKTSYF 
HLLTWSLPFV LTVAILAVAQ VDGDSVSGIC FVGYKNYRYR AGFVLAPIGL VLIVGGYFLI 
RGVMTLFSIK SNHPGLLSEK AASKINETML RLGIFGFLAF GFVLITFSCH FYDFFNQAEW 
ERSFRDYVLC QANVTIGLPT KQPIPDCEIK NRPSLLVEKI NLFAMFGTGI AMSTWVWTKA 
TLLIWRRTWC RLTGQSDDEP KRIKKSKMIA KAFSKRHELL QNPGQELSFS MHTVSHDGPV 
AGLAFDLNEP SADVSSAWAQ HVTKMVARRG AILPQDISVT PVATPVPPEE QANLWLVEAE 
ISPELQKRLG RKKKRRKRKK EVCPLAPPPE LHPPAPAPST IPRLPQLPRQ KCLVAAGAWG 
AGDSCRQGAW TLVSNPFCPE PSPPQDPFLP SAPAPVAWAH GRRQGLGPIH SRTNLMDTEL 
MDADSDF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.