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SMAD5 (SMAD family member 5)

Identity

Alias_namesMADH5
MAD, mothers against decapentaplegic homolog 5 (Drosophila)
SMAD, mothers against DPP homolog 5 (Drosophila)
Alias_symbol (synonym)Dwfc
JV5-1
Other aliasDWFC
HGNC (Hugo) SMAD5
LocusID (NCBI) 4090
Atlas_Id 41230
Location 5q31.1  [Link to chromosome band 5q31]
Location_base_pair Starts at 136132845 and ends at 136182734 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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  4090  SMAD family member 5
AliasesDWFC; JV5-1; MADH5
GeneCards (Weizmann)SMAD5
Ensembl hg19 (Hinxton)ENSG00000113658 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113658 [Gene_View]  chr5:136132845-136182734 [Contig_View]  SMAD5 [Vega]
ICGC DataPortalENSG00000113658
TCGA cBioPortalSMAD5
AceView (NCBI)SMAD5
Genatlas (Paris)SMAD5
WikiGenes4090
SOURCE (Princeton)SMAD5
Genetics Home Reference (NIH)SMAD5
Genomic and cartography
GoldenPath hg38 (UCSC)SMAD5  -     chr5:136132845-136182734 +  5q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMAD5  -     5q31.1   [Description]    (hg19-Feb_2009)
EnsemblSMAD5 - 5q31.1 [CytoView hg19]  SMAD5 - 5q31.1 [CytoView hg38]
Mapping of homologs : NCBISMAD5 [Mapview hg19]  SMAD5 [Mapview hg38]
OMIM603110   
Gene and transcription
Genbank (Entrez)AF009678 AF009745 AF010601 AF071106 AF071107
RefSeq transcript (Entrez)NM_001001419 NM_001001420 NM_005903
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMAD5
Cluster EST : UnigeneHs.167700 [ NCBI ]
CGAP (NCI)Hs.167700
Alternative Splicing GalleryENSG00000113658
Gene ExpressionSMAD5 [ NCBI-GEO ]   SMAD5 [ EBI - ARRAY_EXPRESS ]   SMAD5 [ SEEK ]   SMAD5 [ MEM ]
Gene Expression Viewer (FireBrowse)SMAD5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4090
GTEX Portal (Tissue expression)SMAD5
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
Splice isoforms : SwissVarQ99717
PhosPhoSitePlusQ99717
Domaine pattern : Prosite (Expaxy)MH1 (PS51075)    MH2 (PS51076)   
Domains : Interpro (EBI)Dwarfin    MAD_homology1_Dwarfin-type    MAD_homology_MH1    SMAD_dom-like    SMAD_dom_Dwarfin-type    SMAD_FHA_domain   
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
DMDM Disease mutations4090
Blocks (Seattle)SMAD5
SuperfamilyQ99717
Human Protein AtlasENSG00000113658
Peptide AtlasQ99717
HPRD04381
IPIIPI00017730   IPI00966552   IPI00967558   IPI00967820   IPI00967172   
Protein Interaction databases
DIP (DOE-UCLA)Q99717
IntAct (EBI)Q99717
FunCoupENSG00000113658
BioGRIDSMAD5
STRING (EMBL)SMAD5
ZODIACSMAD5
Ontologies - Pathways
QuickGOQ99717
Ontology : AmiGORNA polymerase II core promoter sequence-specific DNA binding  ureteric bud development  Mullerian duct regression  osteoblast fate commitment  transcription factor activity, sequence-specific DNA binding  signal transducer activity, downstream of receptor  protein binding  intracellular  nucleus  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  cytosol  cytosol  transcription, DNA-templated  protein phosphorylation  signal transduction  transforming growth factor beta receptor signaling pathway  germ cell development  embryonic pattern specification  integral component of membrane  DEAD/H-box RNA helicase binding  erythrocyte differentiation  BMP signaling pathway  BMP signaling pathway  transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity  ubiquitin protein ligase binding  protein 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 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  
Ontology : EGO-EBIRNA polymerase II core promoter sequence-specific DNA binding  ureteric bud development  Mullerian duct regression  osteoblast fate commitment  transcription factor activity, sequence-specific DNA binding  signal transducer activity, downstream of receptor  protein binding  intracellular  nucleus  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  cytosol  cytosol  transcription, DNA-templated  protein phosphorylation  signal transduction  transforming growth factor beta receptor signaling pathway  germ cell development  embryonic pattern specification  integral component of membrane  DEAD/H-box RNA helicase binding  erythrocyte differentiation  BMP signaling pathway  BMP signaling pathway  transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity  ubiquitin protein ligase binding  protein 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 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  
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
HOVERGENQ99717
HOGENOMQ99717
Homologs : HomoloGeneSMAD5
Homology/Alignments : Family Browser (UCSC)SMAD5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMAD5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMAD5
dbVarSMAD5
ClinVarSMAD5
1000_GenomesSMAD5 
Exome Variant ServerSMAD5
ExAC (Exome Aggregation Consortium)SMAD5 (select the gene name)
Genetic variants : HAPMAP4090
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]
Mutations and Diseases : HGMDSMAD5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SMAD5
DgiDB (Drug Gene Interaction Database)SMAD5
DoCM (Curated mutations)SMAD5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMAD5 (select a term)
intoGenSMAD5
Cancer3DSMAD5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603110   
Orphanet
MedgenSMAD5
Genetic Testing Registry SMAD5
NextProtQ99717 [Medical]
TSGene4090
GENETestsSMAD5
Target ValidationSMAD5
Huge Navigator SMAD5 [HugePedia]
snp3D : Map Gene to Disease4090
BioCentury BCIQSMAD5
ClinGenSMAD5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4090
Chemical/Pharm GKB GenePA30528
Clinical trialSMAD5
Miscellaneous
canSAR (ICR)SMAD5 (select the gene name)
Probes
Litterature
PubMed115 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMAD5
EVEXSMAD5
GoPubMedSMAD5
iHOPSMAD5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:32:01 CEST 2017

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