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
Enables DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in embryonic pattern specification and intracellular signal transduction. Acts upstream of with a positive effect on nodal signaling pathway. Acts upstream of or within several processes, including convergent extension involved in axis elongation; negative regulation of signal transduction; and positive regulation of oocyte development. Is active in chromatin and nucleus. Is expressed in brain; head; heart; immature eye; and tail bud. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 6; Lynch syndrome; cervical cancer; and ovarian cancer. 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
Allele Type Localization Consequence Mutagen Supplier
sa21685Allele with one point mutationUnknownSplice SiteENU
vu99Allele with one point mutationExon 9Premature StopENU
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Sequence Targeting Reagents
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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
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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
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Domain Details Per Protein
Protein Additional Resources 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 InterPro 438
UniProtKB:A0A8M2B2F4 InterPro 464
UniProtKB:Q9I9P9 InterPro 468
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 10
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
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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
5
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Plasmids
Constructs
Construct Regulatory Region Coding Sequence Species Tg Lines Citations
Tg(actb2:EGFP-smad2)
  • Danio rerio
1 (4)
Tg(ubb:GFP-smad2)
  • Danio rerio
1Liu et al., 2018
Tg(Xla.Eef1a1:Venus-smad2)
    • Danio rerio
    • Xenopus laevis
    1 (3)
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    Marker Relationships
    Relationship Marker Type Marker Accession Numbers Citations
    Contained inBACDKEY-88L16ZFIN Curated Data
    Contained inBACDKEY-126N10ZFIN Curated Data
    EncodesESTfj43c06
    EncodescDNAMGC:55212ZFIN Curated Data
    EncodescDNAMGC:113963ZFIN Curated Data
    EncodescDNAMGC:192434ZFIN Curated Data
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    Sequences
    Orthology
    Comparative Orthology
    Alliance
    Gene Tree
    Ensembl
    Species Symbol Chromosome Accession # Evidence
    HumanSMAD218
    Amino acid sequence comparison (3)
    Conserved genome location (synteny) (2)
    MouseSmad218
    Amino acid sequence comparison (3)
    Fruit flySmoxX
    Amino acid sequence comparison (1)
    Citations
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