Gene
mespaa
- ID
- ZDB-GENE-000406-8
- Name
- mesoderm posterior aa
- Symbol
- mespaa Nomenclature History
- Previous Names
-
- mesp-a
- Mesp1 (1)
- mespa
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including circulatory system development; gastrulation; and regionalization. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in spondylocostal dysostosis. Is expressed in hypoblast; margin; paraxial mesoderm; presumptive paraxial mesoderm; and somite. Orthologous to human MESP2 (mesoderm posterior bHLH transcription factor 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 49 figures from 32 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
spondylocostal dysostosis 2 | Alliance | Spondylocostal dysostosis 2, autosomal recessive | 608681 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Helix-loop-helix DNA-binding domain superfamily | Mesogenin/MesP | Myc-type, basic helix-loop-helix (bHLH) domain |
---|---|---|---|---|
UniProtKB:Q9IB70
|
223 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
mespaa-201
(1)
|
Ensembl | 887 nt | ||
mRNA |
mespaa-202
(1)
|
Ensembl | 2,344 nt | ||
mRNA |
mespaa-203
(1)
|
Ensembl | 2,436 nt |
Interactions and Pathways
No data available
Plasmids
No data available