Gene

smad6a

ID
ZDB-GENE-011015-1
Name
SMAD family member 6a
Symbol
smad6a Nomenclature History
Previous Names
  • madh6
  • smad6
  • wu:fb22g05 (1)
Type
protein_coding_gene
Location
Chr: 7 Mapping Details/Browsers
Description
Predicted to have several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; I-SMAD binding activity; and ubiquitin protein ligase binding activity. Involved in heart development; negative regulation of BMP signaling pathway; and negative regulation of pathway-restricted SMAD protein phosphorylation. Predicted to localize to cytoplasm and heteromeric SMAD protein complex. Is expressed in heart primordium; heart rudiment; heart tube; and margin. Human ortholog(s) of this gene implicated in aortic valve disease 2; craniosynostosis; and radioulnar synostosis. Orthologous to human SMAD6 (SMAD family member 6).
Genome Resources
Note
None
Expression
All Expression Data
5 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human 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
radioulnar synostosis Alliance {Radioulnar synostosis, nonsyndromic} 179300
{Craniosynostosis 7, susceptibility to} 617439
Associated With smad6a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
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
Domain Details Per Protein
Protein Length Dwarfin MAD homology 1, Dwarfin-type MAD homology, MH1 SMAD domain, Dwarfin-type SMAD/FHA domain superfamily SMAD-like domain superfamily SMAD MH1 domain superfamily
UniProtKB:Q4VCS4 177
UniProtKB:F1RC55 456
UniProtKB:Q1ED26 286
UniProtKB:A2VCX3 233
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations