Gene
efemp2b
- ID
- ZDB-GENE-030219-125
- Name
- EGF containing fibulin extracellular matrix protein 2b
- Symbol
- efemp2b Nomenclature History
- Previous Names
-
- id:ibd2923
- sb:cb257
- wu:fc56c09
- Type
- protein_coding_gene
- Location
- Chr: 21 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 hindbrain neural plate; mesoderm; musculature system; neural tube; and tail bud. Orthologous to human EFEMP2 (EGF containing fibulin extracellular matrix protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb257 (9 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 |
| 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 | Growth factor receptor cysteine-rich domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q5WQV6
|
440 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
efemp2b-202
(1)
|
Havana | 823 nt | |
| mRNA |
efemp2b-204
(1)
|
Havana | 3344 nt | |
| ncRNA |
efemp2b-003
(1)
|
Havana | 608 nt | |
| ncRNA |
efemp2b-004
(1)
|
Havana | 660 nt |
Interactions and Pathways
No data available
Plasmids
No data available