Gene
efemp2a
- ID
- ZDB-GENE-041212-8
- Name
- EGF containing fibulin extracellular matrix protein 2a
- Symbol
- efemp2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity. Predicted to be involved in elastic fiber assembly. Predicted to localize to extracellular space. Is expressed in several structures, including brain; head mesenchyme; muscle; notochord; and paraxial mesoderm. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IB. Orthologous to human EFEMP2 (EGF containing fibulin extracellular matrix protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 16 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:103659 (27 images)
- eu430 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive cutis laxa type IB | Alliance | Cutis laxa, autosomal recessive, type IB | 614437 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR026823 | Complement Clr-like EGF domain |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
| Family | IPR050751 | Extracellular matrix structural protein |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
Domain Details Per Protein
| Protein | Length | Complement Clr-like EGF domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Extracellular matrix structural protein | Growth factor receptor cysteine-rich domain superfamily | NOTCH1 EGF-like calcium-binding domain |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q5PR37
|
440 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
efemp2a-201
(1)
|
Havana | 4993 nt |
Interactions and Pathways
No data available
Plasmids
No data available