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SMTN (smoothelin)

Identity

Other alias-
HGNC (Hugo) SMTN
LocusID (NCBI) 6525
Atlas_Id 51030
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 31082860 and ends at 31104624 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AMT (3p21.31) / SMTN (22q12.2)BICC1 (10q21.1) / SMTN (22q12.2)CCDC80 (3q13.2) / SMTN (22q12.2)
RNF185 (22q12.2) / SMTN (22q12.2)SMTN (22q12.2) / AMT (3p21.31)SMTN (22q12.2) / CHI3L1 (1q32.1)
SMTN (22q12.2) / SMTN (22q12.2)RNF185 22q12.2 / SMTN 22q12.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SMTN   11126
Cards
Entrez_Gene (NCBI)SMTN  6525  smoothelin
Aliases
GeneCards (Weizmann)SMTN
Ensembl hg19 (Hinxton)ENSG00000183963 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183963 [Gene_View]  chr22:31082860-31104624 [Contig_View]  SMTN [Vega]
ICGC DataPortalENSG00000183963
TCGA cBioPortalSMTN
AceView (NCBI)SMTN
Genatlas (Paris)SMTN
WikiGenes6525
SOURCE (Princeton)SMTN
Genetics Home Reference (NIH)SMTN
Genomic and cartography
GoldenPath hg38 (UCSC)SMTN  -     chr22:31082860-31104624 +  22q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMTN  -     22q12.2   [Description]    (hg19-Feb_2009)
EnsemblSMTN - 22q12.2 [CytoView hg19]  SMTN - 22q12.2 [CytoView hg38]
Mapping of homologs : NCBISMTN [Mapview hg19]  SMTN [Mapview hg38]
OMIM602127   
Gene and transcription
Genbank (Entrez)AB209643 AF064238 AJ010306 AK092487 AK092684
RefSeq transcript (Entrez)NM_001207017 NM_001207018 NM_006932 NM_134269 NM_134270
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMTN
Cluster EST : UnigeneHs.149098 [ NCBI ]
CGAP (NCI)Hs.149098
Alternative Splicing GalleryENSG00000183963
Gene ExpressionSMTN [ NCBI-GEO ]   SMTN [ EBI - ARRAY_EXPRESS ]   SMTN [ SEEK ]   SMTN [ MEM ]
Gene Expression Viewer (FireBrowse)SMTN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6525
GTEX Portal (Tissue expression)SMTN
Protein : pattern, domain, 3D structure
UniProt/SwissProtP53814   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP53814  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP53814
Splice isoforms : SwissVarP53814
PhosPhoSitePlusP53814
Domaine pattern : Prosite (Expaxy)CH (PS50021)   
Domains : Interpro (EBI)CH-domain    SMTN   
Domain families : Pfam (Sanger)CH (PF00307)    Smoothelin (PF12510)   
Domain families : Pfam (NCBI)pfam00307    pfam12510   
Domain families : Smart (EMBL)CH (SM00033)  
Conserved Domain (NCBI)SMTN
DMDM Disease mutations6525
Blocks (Seattle)SMTN
PDB (SRS)2D87   
PDB (PDBSum)2D87   
PDB (IMB)2D87   
PDB (RSDB)2D87   
Structural Biology KnowledgeBase2D87   
SCOP (Structural Classification of Proteins)2D87   
CATH (Classification of proteins structures)2D87   
SuperfamilyP53814
Human Protein AtlasENSG00000183963
Peptide AtlasP53814
HPRD03675
IPIIPI00395977   IPI00376001   IPI01014431   IPI00374721   IPI01018619   IPI00909085   IPI00902929   IPI00893770   IPI00893856   IPI01018908   IPI00893850   IPI00894011   IPI00893371   IPI00893512   IPI00892519   
Protein Interaction databases
DIP (DOE-UCLA)P53814
IntAct (EBI)P53814
FunCoupENSG00000183963
BioGRIDSMTN
STRING (EMBL)SMTN
ZODIACSMTN
Ontologies - Pathways
QuickGOP53814
Ontology : AmiGOactin binding  cytoplasm  cytoskeleton  smooth muscle contraction  muscle organ development  structural constituent of muscle  actin cytoskeleton  
Ontology : EGO-EBIactin binding  cytoplasm  cytoskeleton  smooth muscle contraction  muscle organ development  structural constituent of muscle  actin cytoskeleton  
NDEx NetworkSMTN
Atlas of Cancer Signalling NetworkSMTN
Wikipedia pathwaysSMTN
Orthology - Evolution
OrthoDB6525
GeneTree (enSembl)ENSG00000183963
Phylogenetic Trees/Animal Genes : TreeFamSMTN
HOVERGENP53814
HOGENOMP53814
Homologs : HomoloGeneSMTN
Homology/Alignments : Family Browser (UCSC)SMTN
Gene fusions - Rearrangements
Fusion : MitelmanRNF185/SMTN [22q12.2/22q12.2]  [t(22;22)(q12;q12)]  
Fusion: TCGARNF185 22q12.2 SMTN 22q12.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMTN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMTN
dbVarSMTN
ClinVarSMTN
1000_GenomesSMTN 
Exome Variant ServerSMTN
ExAC (Exome Aggregation Consortium)SMTN (select the gene name)
Genetic variants : HAPMAP6525
Genomic Variants (DGV)SMTN [DGVbeta]
DECIPHERSMTN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMTN 
Mutations
ICGC Data PortalSMTN 
TCGA Data PortalSMTN 
Broad Tumor PortalSMTN
OASIS PortalSMTN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMTN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMTN
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SMTN
DgiDB (Drug Gene Interaction Database)SMTN
DoCM (Curated mutations)SMTN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMTN (select a term)
intoGenSMTN
Cancer3DSMTN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602127   
Orphanet
MedgenSMTN
Genetic Testing Registry SMTN
NextProtP53814 [Medical]
TSGene6525
GENETestsSMTN
Target ValidationSMTN
Huge Navigator SMTN [HugePedia]
snp3D : Map Gene to Disease6525
BioCentury BCIQSMTN
ClinGenSMTN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6525
Chemical/Pharm GKB GenePA35975
Clinical trialSMTN
Miscellaneous
canSAR (ICR)SMTN (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMTN
EVEXSMTN
GoPubMedSMTN
iHOPSMTN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:56:36 CEST 2017

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