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SMAD5 (SMAD family member 5)

Identity

Alias (NCBI)DWFC
JV5-1
MADH5
HGNC (Hugo) SMAD5
HGNC Alias symbDwfc
JV5-1
HGNC Previous nameMADH5
HGNC Previous nameMAD, mothers against decapentaplegic homolog 5 (Drosophila)
 SMAD, mothers against DPP homolog 5 (Drosophila)
LocusID (NCBI) 4090
Atlas_Id 41230
Location 5q31.1  [Link to chromosome band 5q31]
Location_base_pair Starts at 136132845 and ends at 136182733 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
SMAD5 (5q31.1) / SMAD5 (5q31.1)

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)SMAD5   6771
Cards
Entrez_Gene (NCBI)SMAD5    SMAD family member 5
AliasesDWFC; JV5-1; MADH5
GeneCards (Weizmann)SMAD5
Ensembl hg19 (Hinxton)ENSG00000113658 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113658 [Gene_View]  ENSG00000113658 [Sequence]  chr5:136132845-136182733 [Contig_View]  SMAD5 [Vega]
ICGC DataPortalENSG00000113658
TCGA cBioPortalSMAD5
AceView (NCBI)SMAD5
Genatlas (Paris)SMAD5
SOURCE (Princeton)SMAD5
Genetics Home Reference (NIH)SMAD5
Genomic and cartography
GoldenPath hg38 (UCSC)SMAD5  -     chr5:136132845-136182733 +  5q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMAD5  -     5q31.1   [Description]    (hg19-Feb_2009)
GoldenPathSMAD5 - 5q31.1 [CytoView hg19]  SMAD5 - 5q31.1 [CytoView hg38]
ImmunoBaseENSG00000113658
Genome Data Viewer NCBISMAD5 [Mapview hg19]  
OMIM603110   
Gene and transcription
Genbank (Entrez)AF009678 AF009745 AF010601 AF071106 AF071107
RefSeq transcript (Entrez)NM_001001419 NM_001001420 NM_005903
Consensus coding sequences : CCDS (NCBI)SMAD5
Gene ExpressionSMAD5 [ NCBI-GEO ]   SMAD5 [ EBI - ARRAY_EXPRESS ]   SMAD5 [ SEEK ]   SMAD5 [ MEM ]
Gene Expression Viewer (FireBrowse)SMAD5 [ Firebrowse - Broad ]
GenevisibleExpression of SMAD5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4090
GTEX Portal (Tissue expression)SMAD5
Human Protein AtlasENSG00000113658-SMAD5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99717   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99717  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99717
PhosPhoSitePlusQ99717
Domaine pattern : Prosite (Expaxy)MH1 (PS51075)    MH2 (PS51076)   
Domains : Interpro (EBI)Dwarfin    MAD_homology1_Dwarfin-type    MAD_homology_MH1    SMAD-like_dom_sf    SMAD_dom_Dwarfin-type    SMAD_FHA_dom_sf    SMAD_MH1_sf   
Domain families : Pfam (Sanger)MH1 (PF03165)    MH2 (PF03166)   
Domain families : Pfam (NCBI)pfam03165    pfam03166   
Domain families : Smart (EMBL)DWA (SM00523)  DWB (SM00524)  
Conserved Domain (NCBI)SMAD5
PDB (RSDB)6FZS    6TCE   
PDB Europe6FZS    6TCE   
PDB (PDBSum)6FZS    6TCE   
PDB (IMB)6FZS    6TCE   
Structural Biology KnowledgeBase6FZS    6TCE   
SCOP (Structural Classification of Proteins)6FZS    6TCE   
CATH (Classification of proteins structures)6FZS    6TCE   
SuperfamilyQ99717
AlphaFold pdb e-kbQ99717   
Human Protein Atlas [tissue]ENSG00000113658-SMAD5 [tissue]
HPRD04381
Protein Interaction databases
DIP (DOE-UCLA)Q99717
IntAct (EBI)Q99717
BioGRIDSMAD5
STRING (EMBL)SMAD5
ZODIACSMAD5
Ontologies - Pathways
QuickGOQ99717
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  ureteric bud development  Mullerian duct regression  osteoblast fate commitment  cardiac conduction system development  protein binding  nucleus  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  regulation of transcription by RNA polymerase II  protein phosphorylation  signal transduction  transforming growth factor beta receptor signaling pathway  transforming growth factor beta receptor signaling pathway  germ cell development  anatomical structure morphogenesis  embryonic pattern specification  DEAD/H-box RNA helicase binding  cell differentiation  erythrocyte differentiation  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  negative regulation of BMP signaling pathway  ubiquitin protein ligase binding  protein-containing complex  positive regulation of osteoblast differentiation  positive regulation of transcription, DNA-templated  metal ion binding  cartilage development  cardiac muscle contraction  bone development  SMAD protein signal transduction  SMAD protein signal transduction  SMAD protein signal transduction  I-SMAD binding  SMAD protein complex  heteromeric SMAD protein complex  cellular response to organic cyclic compound  positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus  positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  ureteric bud development  Mullerian duct regression  osteoblast fate commitment  cardiac conduction system development  protein binding  nucleus  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  regulation of transcription by RNA polymerase II  protein phosphorylation  signal transduction  transforming growth factor beta receptor signaling pathway  transforming growth factor beta receptor signaling pathway  germ cell development  anatomical structure morphogenesis  embryonic pattern specification  DEAD/H-box RNA helicase binding  cell differentiation  erythrocyte differentiation  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  negative regulation of BMP signaling pathway  ubiquitin protein ligase binding  protein-containing complex  positive regulation of osteoblast differentiation  positive regulation of transcription, DNA-templated  metal ion binding  cartilage development  cardiac muscle contraction  bone development  SMAD protein signal transduction  SMAD protein signal transduction  SMAD protein signal transduction  I-SMAD binding  SMAD protein complex  heteromeric SMAD protein complex  cellular response to organic cyclic compound  positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus  positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus  sequence-specific double-stranded DNA binding  
Pathways : BIOCARTAALK in cardiac myocytes [Genes]    CTCF: First Multivalent Nuclear Factor [Genes]   
Pathways : KEGGTGF-beta signaling pathway   
NDEx NetworkSMAD5
Atlas of Cancer Signalling NetworkSMAD5
Wikipedia pathwaysSMAD5
Orthology - Evolution
OrthoDB4090
GeneTree (enSembl)ENSG00000113658
Phylogenetic Trees/Animal Genes : TreeFamSMAD5
Homologs : HomoloGeneSMAD5
Homology/Alignments : Family Browser (UCSC)SMAD5
Gene fusions - Rearrangements
Fusion : QuiverSMAD5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMAD5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMAD5
dbVarSMAD5
ClinVarSMAD5
MonarchSMAD5
1000_GenomesSMAD5 
Exome Variant ServerSMAD5
GNOMAD BrowserENSG00000113658
Varsome BrowserSMAD5
ACMGSMAD5 variants
VarityQ99717
Genomic Variants (DGV)SMAD5 [DGVbeta]
DECIPHERSMAD5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMAD5 
Mutations
ICGC Data PortalSMAD5 
TCGA Data PortalSMAD5 
Broad Tumor PortalSMAD5
OASIS PortalSMAD5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMAD5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSMAD5
Mutations and Diseases : HGMDSMAD5
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSMAD5
DgiDB (Drug Gene Interaction Database)SMAD5
DoCM (Curated mutations)SMAD5
CIViC (Clinical Interpretations of Variants in Cancer)SMAD5
Cancer3DSMAD5
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603110   
Orphanet
DisGeNETSMAD5
MedgenSMAD5
Genetic Testing Registry SMAD5
NextProtQ99717 [Medical]
GENETestsSMAD5
Target ValidationSMAD5
Huge Navigator SMAD5 [HugePedia]
ClinGenSMAD5
Clinical trials, drugs, therapy
MyCancerGenomeSMAD5
Protein Interactions : CTDSMAD5
Pharm GKB GenePA30528
PharosQ99717
Clinical trialSMAD5
Miscellaneous
canSAR (ICR)SMAD5
HarmonizomeSMAD5
DataMed IndexSMAD5
Probes
Litterature
PubMed138 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSMAD5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:32:08 CEST 2021

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