ZFIN ID: ZDB-GENE-011015-1
Gene Name: SMAD family member 6a
Gene Symbol: smad6a    Nomenclature History

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Previous Names: madh6, smad6, wu:fb22g05 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 7 Mapping Details/Browsers
Description: Predicted to have DNA binding activity and DNA-binding transcription factor activity. Involved in heart development; negative regulation of BMP signaling pathway; and negative regulation of pathway-restricted SMAD protein phosphorylation. Predicted to localize to the cytoplasm; nucleus; and transcription factor complex. Human ortholog(s) of this gene implicated in aortic valve disease 2 and craniosynostosis. Is expressed in heart primordium; heart rudiment; and heart tube. Orthologous to human SMAD6 (SMAD family member 6).
Genome Resources: Alliance (1),  Gene:116992 (1),  Ensembl(GRCz11):ENSDARG00000053209 (1)
GENE EXPRESSION
All Expression Data: 4 figures from 3 publications
Wild-type Stages, Structures: Segmentation:14-19 somites (16.0h-19.0h) to Pharyngula:Prim-5 (24.0h-30.0h)
 
Curated Microarray Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Sequence Targeting Reagents
Targeting Reagent Created Alleles Publications
CRISPR1-smad6a
1
PHENOTYPE No data available
DISEASE ASSOCIATED WITH smad6a HUMAN ORTHOLOG
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
aortic valve disease 2 Alliance Aortic valve disease 2 614823
{Craniosynostosis 7, susceptibility to} 617439
DISEASE ASSOCIATED WITH smad6a VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process heart development (more)
Cellular Component cytoplasm (more)
Molecular Function DNA binding (more)
GO Terms (all 10)
PROTEIN FAMILIES, DOMAINS AND SITES
Type InterPro ID Name
Domain IPR001132 SMAD domain, Dwarfin-type
Domain IPR003619 MAD homology 1, Dwarfin-type
Domain IPR013019 MAD homology, MH1
Family IPR013790 Dwarfin
Homologous_superfamily IPR008984 SMAD/FHA domain superfamily
Homologous_superfamily IPR017855 SMAD-like domain superfamily
Homologous_superfamily IPR036578 SMAD MH1 domain superfamily
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA smad6a-201 (1)    Ensembl 2690
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM smad6a No data available
MARKER RELATIONSHIPS
smad6a Contained in: [BAC] CH211-98N17 (1), DKEY-34G19 (1) (order this)
smad6a Encodes: [EST] fb22g05
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA RefSeq:NM_001024810 (1) 1060 nt
Genomic GenBank:CR388195 193210 nt
Select Tool
Polypeptide UniProtKB:F1RC55 (1) 456 aa
Sequence Information (all 23)
ORTHOLOGY for smad6a ( Chr: 7 )
CITATIONS (27)