Gene

smad4a

ID
ZDB-GENE-990603-8
Name
SMAD family member 4a
Symbol
smad4a Nomenclature History
Previous Names
  • madh4
  • smad4
  • SMA- and MAD-related protein 4
  • zmp:0000000768
Type
protein_coding_gene
Location
Chr: 10 Mapping Details/Browsers
Description
Exhibits sequence-specific DNA binding activity. Contributes to transcription regulatory region sequence-specific DNA binding activity. Involved in convergent extension; determination of ventral identity; and striated muscle tissue development. Localizes to SMAD protein complex and nucleus. Is expressed in several structures, including digestive system; head; heart; immature eye; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in several diseases, including female reproductive organ cancer (multiple); hereditary hemorrhagic telangiectasia; juvenile polyposis syndrome; juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome; and seminoma. Orthologous to human SMAD4 (SMAD family member 4).
Genome Resources
Note
None
Expression
All Expression Data
6 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With smad4a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
juvenile polyposis syndrome Alliance Polyposis, juvenile intestinal 174900
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome Alliance Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
pancreatic carcinoma Alliance Pancreatic cancer, somatic 260350
Myhre syndrome 139210
Associated With smad4a 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:F1QS48 547
UniProtKB:Q9I9P4 353
UniProtKB:B1PS59 505
UniProtKB:B3DHM7 222
UniProtKB:B1PS58 547
Transcripts
Genome Browsers
No data available
Interactions and Pathways
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations