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

Gene ID: 4091, updated on 14-Jun-2020

Summary

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
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]
Expression
Broad expression in lung (RPKM 6.3), placenta (RPKM 2.8) and 18 other tissues See more
Orthologs

Genomic context

See SMAD6 in Genome Data Viewer
Location:
15q22.31
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (66702110..66782849)
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 HNF4 motif-containing MPRA enhancer 143 Neighboring gene leucine zipper and EF-hand containing transmembrane protein 1 pseudogene 1 Neighboring gene uncharacterized LOC105370869

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Aortic valve disease 2
MedGen: C3542024 OMIM: 614823 GeneReviews: Not available
Compare labs
Craniosynostosis 7
MedGen: C4479496 OMIM: 617439 GeneReviews: Not available
Compare labs

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
I-SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
R-SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
co-SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
type I activin receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
type I transforming growth factor beta receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
 
aortic valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 BMP signaling pathway IMP
Inferred from Mutant Phenotype
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 osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 IDA
Inferred from Direct Assay
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 by RNA polymerase II 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 
response to lipopolysaccharide IDA
Inferred from Direct Assay
more info
PubMed 
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
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
mothers against decapentaplegic homolog 6
Names
MAD homolog 6
SMAD, mothers against DPP homolog 6
mothers against decapentaplegic, drosophila, homolog of, 6

NCBI Reference Sequences (RefSeq)

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_012244.2 RefSeqGene

    Range
    4901..85514
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005585.5NP_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)
    AC013564, AC110048, AF035528, BC012986, BC029288, CA406301, CN314453, CN314455, U59914
    Consensus CDS
    CCDS10221.1
    UniProtKB/Swiss-Prot
    O43541
    Related
    ENSP00000288840.5, ENST00000288840.10
    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_027654.2 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)
    AC013564, AC110048, AF035528, AM909653, BC029288, CA406301, CN314453, CN314455, U59914

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    66702110..66782849
    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

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.
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