Gene

smad3a

ID

ZDB-GENE-000509-3

Name

SMAD family member 3a

Symbol

smad3a Nomenclature History

Previous Names

madh3a
smad3 (1)
wu:fa99e03

Type

protein_coding_gene

Location

Chr: 7 Mapping Details/Browsers

Description

Exhibits sequence-specific DNA binding activity. Involved in mesoderm development; primitive hemopoiesis; and regulation of transcription, DNA-templated. Predicted to localize to cytoplasm; nucleus; and transcription factor complex. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 3; Lynch syndrome; and pancreatic cancer. Is expressed in immature eye; integument; somite; and tail bud. Orthologous to human SMAD3 (SMAD family member 3).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

10 figures from 9 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With smad3a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Loeys-Dietz syndrome 3	Alliance	Loeys-Dietz syndrome 3	613795

Associated With smad3a 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