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    SMAD6 SMAD family member 6 [ Homo sapiens (human) ]

    Gene ID: 4091, updated on 24-Jun-2017
    Official Symbol
    SMAD6provided by HGNC
    Official Full Name
    SMAD family member 6provided by HGNC
    Primary source
    HGNC:HGNC:6772
    See related
    Ensembl:ENSG00000137834 MIM:602931; Vega:OTTHUMG00000133218
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AOVD2; MADH6; MADH7; HsT17432
    Summary
    The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]
    Orthologs
    Location:
    15q22.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (66702110..66782000)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (66994674..67074338)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene zwilch kinetochore protein Neighboring gene lactase like Neighboring gene long intergenic non-protein coding RNA 1169 Neighboring gene leucine zipper and EF-hand containing transmembrane protein 1 pseudogene 1 Neighboring gene uncharacterized LOC105370869

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Aortic valve disease 2
    MedGen: C3542024 OMIM: 614823 GeneReviews: Not available
    Compare labs
    Craniosynostosis 7
    MedGen: CN242220 OMIM: 617439 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    A genome-wide gene-environment interaction analysis for tobacco smoke and lung cancer susceptibility.
    NHGRI GWA Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of SMAD family member 6 (SMAD6) in human B cells PubMed
    Tat tat SMAD6 expression and its phosphorylation, in response to bone morphogenetic protein-2 (BMP2) treatment, is downregulated by HIV-1 Tat treatment in the macrophage cell line U937 PubMed

    Go to the HIV-1, Human Interaction Database

    • BMP receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      BMP receptor signaling, organism-specific biosystem
      BMP receptor signaling
    • Bone Morphogenic Protein (BMP) Signalling and Regulation, organism-specific biosystem (from WikiPathways)
      Bone Morphogenic Protein (BMP) Signalling and Regulation, organism-specific biosystem"BMP signals are mediated by type I and II BMP receptors and their downstream molecules Smad1, 5 and 8. Phosphorylated Smad1, 5 and 8 proteins form a complex with Smad4 and then are translocated into...
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
      Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
    • Regulation of toll-like receptor signaling pathway, organism-specific biosystem (from WikiPathways)
      Regulation of toll-like receptor signaling pathway, organism-specific biosystem
      Regulation of toll-like receptor signaling pathway
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by BMP, organism-specific biosystem (from REACTOME)
      Signaling by BMP, organism-specific biosystemBone morphogenetic proteins (BMPs) have many biological activities in various tissues, including bone, cartilage, blood vessels, heart, kidney, neurons, liver and lung. They are members of the Transf...
    • TGF-beta Receptor Signaling, organism-specific biosystem (from WikiPathways)
      TGF-beta Receptor Signaling, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    BMP signaling pathway TAS
    Traceable Author Statement
    more info
     
    aorta development IEA
    Inferred from Electronic Annotation
    more info
     
    cell-substrate adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    coronary vasculature development IEA
    Inferred from Electronic Annotation
    more info
     
    fat cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitral valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of SMAD protein complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of ossification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of pathway-restricted SMAD protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    outflow tract septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of pri-miRNA transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    pulmonary valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    response to laminar fluid shear stress IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular septum development IEA
    Inferred from Electronic Annotation
    more info
     
    zygotic specification of dorsal/ventral axis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    mothers against decapentaplegic homolog 6
    Names
    MAD homolog 6
    SMAD, mothers against DPP homolog 6
    mothers against decapentaplegic, drosophila, homolog of, 6

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012244.1 RefSeqGene

      Range
      5001..84665
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005585.4NP_005576.3  mothers against decapentaplegic homolog 6

      See identical proteins and their annotated locations for NP_005576.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the supported protein.
      Source sequence(s)
      AF035528, BC012986, BC029288, CA406301, CN314453, CN314455, U59914
      Consensus CDS
      CCDS10221.1
      UniProtKB/Swiss-Prot
      O43541
      Related
      ENSP00000288840.5, OTTHUMP00000164291, ENST00000288840.9, OTTHUMT00000256953
      Conserved Domains (2) summary
      cd10493
      Location:160273
      MH1_SMAD_6; N-terminal Mad Homology 1 (MH1) domain in SMAD6
      cd10499
      Location:322494
      MH2_SMAD_6; C-terminal Mad Homology 2 (MH2) domain in SMAD6

    RNA

    1. NR_027654.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as SMAD6B, includes an alternate exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF035528, AM909653, BC029288, CA406301, CN314453, CN314455, U59914

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      66702110..66782000
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521561.2XP_011519863.1  mothers against decapentaplegic homolog 6 isoform X1

      See identical proteins and their annotated locations for XP_011519863.1

      UniProtKB/Swiss-Prot
      O43541
      Conserved Domains (1) summary
      cd10499
      Location:61233
      MH2_SMAD_6; C-terminal Mad Homology 2 (MH2) domain in SMAD6

    RNA

    1. XR_931827.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      67112770..67192414
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001142861.2: Suppressed sequence

      Description
      NM_001142861.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which appears to be incomplete at the 5' end.
    Support Center