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Smad6 SMAD family member 6 [ Mus musculus (house mouse) ]

Gene ID: 17130, updated on 27-Feb-2024

Summary

Official Symbol
Smad6provided by MGI
Official Full Name
SMAD family member 6provided by MGI
Primary source
MGI:MGI:1336883
See related
Ensembl:ENSMUSG00000036867 AllianceGenome:MGI:1336883
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Madh6; b2b390Clo
Summary
Predicted to enable several functions, including SMAD binding activity; signaling receptor binding activity; and transcription regulator inhibitor activity. Involved in heart development; negative regulation of ossification; and positive regulation of pri-miRNA transcription by RNA polymerase II. Acts upstream of or within circulatory system development and ureteric bud development. Predicted to be located in Golgi apparatus; cytosol; and nuclear body. Predicted to be part of heteromeric SMAD protein complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in aortic valve disease 2; craniosynostosis; and radioulnar synostosis. Orthologous to human SMAD6 (SMAD family member 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in lung adult (RPKM 141.3), stomach adult (RPKM 37.6) and 11 other tissues See more
Orthologs
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Genomic context

See Smad6 in Genome Data Viewer
Location:
9 C; 9 34.4 cM
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (63860358..63929374, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (63953076..64022085, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene ADP-ribosylation factor-like 1 pseudogene Neighboring gene predicted gene, 36033 Neighboring gene VISTA enhancer mm1518 Neighboring gene STARR-seq mESC enhancer starr_24413 Neighboring gene RIKEN cDNA 1700055C04 gene Neighboring gene VISTA enhancer mm69 Neighboring gene RIKEN cDNA 1110036E04 gene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (1)  1 citation
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables I-SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables I-SMAD binding ISO
Inferred from Sequence Orthology
more info
 
enables R-SMAD binding ISO
Inferred from Sequence Orthology
more info
 
enables chromatin binding ISO
Inferred from Sequence Orthology
more info
 
enables co-SMAD binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein sequestering activity ISO
Inferred from Sequence Orthology
more info
 
enables transcription cis-regulatory region binding ISO
Inferred from Sequence Orthology
more info
 
enables transcription regulator inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables transcription regulator inhibitor activity ISO
Inferred from Sequence Orthology
more info
 
enables type I activin receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables type I transforming growth factor beta receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables ubiquitin protein ligase binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in BMP signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within aorta development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in aortic valve morphogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in cardiac vascular smooth muscle cell development TAS
Traceable Author Statement
more info
PubMed 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell-substrate adhesion ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within coronary vasculature development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in coronary vasculature morphogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in fat cell differentiation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within heart valve development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in immune response ISO
Inferred from Sequence Orthology
more info
 
involved_in mitral valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of BMP signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of SMAD protein signal transduction ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of activin receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of ossification IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of osteoblast differentiation ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of transforming growth factor beta receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in outflow tract septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of miRNA transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of vasoconstriction TAS
Traceable Author Statement
more info
PubMed 
involved_in pulmonary valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in response to lipopolysaccharide ISO
Inferred from Sequence Orthology
more info
 
involved_in transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in ureteric bud development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in vasoconstriction TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within ventricular septum development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in zygotic specification of dorsal/ventral axis ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
part_of heteromeric SMAD protein complex IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nuclear body ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
PubMed 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
mothers against decapentaplegic homolog 6
Names
MAD homolog 6
Smad 6
mad homolog 7
mothers against DPP homolog 6

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_008542.3NP_032568.3  mothers against decapentaplegic homolog 6

    See identical proteins and their annotated locations for NP_032568.3

    Status: VALIDATED

    Source sequence(s)
    AC114674, AC135672, AI415735, AK046602
    Consensus CDS
    CCDS23273.1
    UniProtKB/Swiss-Prot
    O35182, Q9CW62
    UniProtKB/TrEMBL
    Q80ZV9
    Related
    ENSMUSP00000036285.6, ENSMUST00000041029.6
    Conserved Domains (2) summary
    cd10493
    Location:161274
    MH1_SMAD_6; N-terminal Mad Homology 1 (MH1) domain in SMAD6
    cd10499
    Location:323493
    MH2_SMAD_6; C-terminal Mad Homology 2 (MH2) domain in SMAD6

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    63860358..63929374 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006510822.4XP_006510885.1  mothers against decapentaplegic homolog 6 isoform X1

    See identical proteins and their annotated locations for XP_006510885.1

    UniProtKB/Swiss-Prot
    O35182, Q9CW62
    UniProtKB/TrEMBL
    Q80ZV9
    Conserved Domains (2) summary
    cd10493
    Location:161274
    MH1_SMAD_6; N-terminal Mad Homology 1 (MH1) domain in SMAD6
    cd10499
    Location:323493
    MH2_SMAD_6; C-terminal Mad Homology 2 (MH2) domain in SMAD6