Gene

smad2

ID
ZDB-GENE-990603-7
Name
SMAD family member 2
Symbol
smad2 Nomenclature History
Previous Names
  • madh2
  • fj43c06
  • SMA- and MAD-related protein 2
  • wu:fj43c06
Type
protein_coding_gene
Location
Chr: 10 Mapping Details/Browsers
Description
Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Involved in several processes, including negative regulation of transcription by RNA polymerase II; neural plate anterior/posterior regionalization; and positive regulation of oocyte development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Lynch syndrome; cervical cancer; and ovarian cancer. Is expressed in brain; head; immature eye; and tail bud. Orthologous to human SMAD2 (SMAD family member 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
15 figures from 12 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
8 figures from 8 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With smad2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Loeys-Dietz syndrome 6 Alliance Loeys-Dietz syndrome 6 619656
Congenital heart defects, multiple types, 8, with or without heterotaxy 619657
Associated With smad2 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:A0A8M9PTD0 438
UniProtKB:A0A8M2B2F4 464
UniProtKB:Q9I9P9 468
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA smad2-201 (1) Ensembl 3,816 nt
mRNA smad2-202 (1) Ensembl 1,994 nt
mRNA smad2-203 (1) Ensembl 3,895 nt
mRNA smad2-204 (1) Ensembl 555 nt
mRNA smad2-205 (1) Ensembl 812 nt
mRNA smad2-206 (1) Ensembl 1,949 nt
mRNA smad2-207 (1) Ensembl 1,416 nt
Interactions and Pathways
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab-smad2 polyclonal Rabbit
  • IHC
  • WB
Cell Signaling Technology, Inc.
14
Ab2-smad2 monoclonal IgG Rabbit
  • IHC
Millipore
6
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations