Gene

smad6b

ID
ZDB-GENE-050419-198
Name
SMAD family member 6b
Symbol
smad6b Nomenclature History
Previous Names
  • si:dkey-288j18.1
Type
protein_coding_gene
Location
Chr: 18 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. Predicted to be involved in several processes, including cell differentiation; regulation of transcription by RNA polymerase II; and transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to localize to cytoplasm and heteromeric SMAD protein complex. Is expressed in several structures, including cardiovascular system; head; notochord; optic vesicle; and periderm. 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
6 figures from Thisse et al., 2005
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 smad6b 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 smad6b 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:Q1L8Y3 486
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