Gene
frem2b
- ID
- ZDB-GENE-081119-4
- Name
- FRAS1 related extracellular matrix 2b
- Symbol
- frem2b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Predicted to be involved in anatomical structure morphogenesis. Predicted to act upstream of or within cell communication and homophilic cell adhesion via plasma membrane adhesion molecules. Predicted to be located in membrane. Predicted to be active in collagen-containing extracellular matrix. Is expressed in intermediate cell mass of mesoderm; median fin fold; and pronephric duct. Human ortholog(s) of this gene implicated in Fraser syndrome 2 and isolated cryptophthalmia. Orthologous to human FREM2 (FRAS1 related extracellular matrix 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Carney et al., 2010
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Carney et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Fraser syndrome 2 | Alliance | Fraser syndrome 2 | 617666 |
isolated cryptophthalmia | Alliance | Cryptophthalmos, unilateral or bilateral, isolated | 123570 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR002126 | Cadherin-like |
Domain | IPR003644 | Na-Ca exchanger/integrin-beta4 |
Domain | IPR045658 | FRAS1-related extracellular matrix protein, N-terminal domain |
Family | IPR051561 | FRAS1-related extracellular matrix |
Homologous_superfamily | IPR038081 | CalX-like domain superfamily |
Repeat | IPR039005 | CSPG repeat |
Domain Details Per Protein
Protein | Length | Cadherin-like | CalX-like domain superfamily | CSPG repeat | FRAS1-related extracellular matrix | FRAS1-related extracellular matrix protein, N-terminal domain | Na-Ca exchanger/integrin-beta4 |
---|---|---|---|---|---|---|---|
UniProtKB:A0A0R4IH07
|
3112 | ||||||
UniProtKB:B6IDE7
|
3116 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
antisense |
ottdart00000051048
(1)
|
Ensembl | 625 nt | ||
mRNA |
frem2b-201
(1)
|
Ensembl | 9,512 nt | ||
mRNA |
frem2b-202
(1)
|
Ensembl | 9,725 nt |
Interactions and Pathways
No data available
Plasmids
No data available