Details for: SMO

Gene ID: 6608

Symbol: SMO

Ensembl ID: ENSG00000128602

Description: smoothened, frizzled class receptor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 107.4286
    Cell Significance Index: -16.7100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 64.5000
    Cell Significance Index: -16.3600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 33.3494
    Cell Significance Index: -15.7500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 14.1714
    Cell Significance Index: -13.5300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.2295
    Cell Significance Index: -16.6900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.8329
    Cell Significance Index: -6.2000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.0825
    Cell Significance Index: 34.6700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.9124
    Cell Significance Index: 51.2000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8858
    Cell Significance Index: 175.7900
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.6320
    Cell Significance Index: 10.6300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5782
    Cell Significance Index: 110.0400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4208
    Cell Significance Index: 41.6300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3356
    Cell Significance Index: 9.3800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2643
    Cell Significance Index: 36.3000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2636
    Cell Significance Index: 237.9900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.2378
    Cell Significance Index: 3.9800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2080
    Cell Significance Index: 4.4300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2070
    Cell Significance Index: 33.6700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1586
    Cell Significance Index: 17.2500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1468
    Cell Significance Index: 11.2700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1242
    Cell Significance Index: 5.7900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1177
    Cell Significance Index: 4.0900
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1153
    Cell Significance Index: 1.8300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0983
    Cell Significance Index: 43.4800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0973
    Cell Significance Index: 5.8400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0958
    Cell Significance Index: 12.2800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0792
    Cell Significance Index: 43.2700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0736
    Cell Significance Index: 1.5400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0584
    Cell Significance Index: 11.7300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0289
    Cell Significance Index: 54.5000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0215
    Cell Significance Index: 9.7500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0208
    Cell Significance Index: 1.4400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.0148
    Cell Significance Index: 0.1900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0100
    Cell Significance Index: 18.4400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0094
    Cell Significance Index: 0.3300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0061
    Cell Significance Index: 3.9000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0039
    Cell Significance Index: 6.0400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0017
    Cell Significance Index: -0.0500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0068
    Cell Significance Index: -4.9800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0092
    Cell Significance Index: -12.5200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0116
    Cell Significance Index: -0.2900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0117
    Cell Significance Index: -0.2000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0152
    Cell Significance Index: -0.6900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0180
    Cell Significance Index: -12.4500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0226
    Cell Significance Index: -17.1400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0251
    Cell Significance Index: -18.6200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0272
    Cell Significance Index: -0.5900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0273
    Cell Significance Index: -9.7800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0274
    Cell Significance Index: -17.1200
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0295
    Cell Significance Index: -0.1800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0334
    Cell Significance Index: -6.0200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0334
    Cell Significance Index: -18.8100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0369
    Cell Significance Index: -10.6200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0375
    Cell Significance Index: -2.3000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0467
    Cell Significance Index: -7.9800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0493
    Cell Significance Index: -7.1600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0531
    Cell Significance Index: -6.5300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0726
    Cell Significance Index: -8.4600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0825
    Cell Significance Index: -9.4500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0833
    Cell Significance Index: -2.1900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0927
    Cell Significance Index: -4.8300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0946
    Cell Significance Index: -19.9400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0947
    Cell Significance Index: -1.0300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0953
    Cell Significance Index: -6.7400
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.1012
    Cell Significance Index: -0.8600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1079
    Cell Significance Index: -13.9500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1113
    Cell Significance Index: -2.8600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1121
    Cell Significance Index: -11.4500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1212
    Cell Significance Index: -8.1500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1225
    Cell Significance Index: -12.7600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1266
    Cell Significance Index: -14.9300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1309
    Cell Significance Index: -2.7200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1386
    Cell Significance Index: -8.5200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1682
    Cell Significance Index: -10.6000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1793
    Cell Significance Index: -14.2000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2053
    Cell Significance Index: -5.1200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2065
    Cell Significance Index: -4.0300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2096
    Cell Significance Index: -15.6200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2124
    Cell Significance Index: -5.6900
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.2138
    Cell Significance Index: -3.4300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2221
    Cell Significance Index: -10.4400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2297
    Cell Significance Index: -14.8200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2564
    Cell Significance Index: -12.9600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2946
    Cell Significance Index: -15.3100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.3109
    Cell Significance Index: -7.5300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3153
    Cell Significance Index: -4.6600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3174
    Cell Significance Index: -8.6400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3216
    Cell Significance Index: -6.8800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3388
    Cell Significance Index: -9.9800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.3481
    Cell Significance Index: -4.7500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3493
    Cell Significance Index: -18.3400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3536
    Cell Significance Index: -15.6400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3695
    Cell Significance Index: -9.8900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3731
    Cell Significance Index: -10.7000
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.3923
    Cell Significance Index: -3.5400
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.4065
    Cell Significance Index: -5.7100
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.4124
    Cell Significance Index: -7.1300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4154
    Cell Significance Index: -15.7300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.4221
    Cell Significance Index: -2.8600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4271
    Cell Significance Index: -15.6800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

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 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 87 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 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 15 PDBsum 15 PRINTS 1 PRO 1 PROSITE 2 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 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.