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. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IB. Is expressed in several structures, including brain; head mesenchyme; muscle; notochord; and paraxial mesoderm. 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 | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
efemp2a-201
(1)
|
Ensembl | 4,993 nt |
Interactions and Pathways
No data available
Plasmids
No data available