ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- 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; neural plate anterior/posterior regionalization; 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
-
- All Expression Data
- 15 figures from 12 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55212 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| 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 |
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 | 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 |
- 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
Plasmids
- Genome Browsers