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
Is predicted to enable I-SMAD binding activity and transcription regulator inhibitor activity. Involved in several processes, including cell differentiation; regulation of transcription by RNA polymerase II; and transmembrane receptor protein serine/threonine kinase signaling pathway. Acts upstream of or within heart development; negative regulation of BMP signaling pathway; and negative regulation of pathway-restricted SMAD protein phosphorylation. Predicted to be located in cytoplasm and nucleus. Predicted to be part of 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
Comparative Information
Expression
All Expression Data
5 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
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:Q1ED26 286
UniProtKB:F1RC55 456
UniProtKB:Q4VCS4 177
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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations