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MIRAGE
FRAS1 related extracellular matrix 1
Summary
- Gene Symbol
-
- FREM1
- Aliases
-
- C9orf143
- C9orf145
- DKFZp686M16108
- FLJ25461
- TILRR
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Basement membrane
- Calcium
- Cell adhesion
- Craniosynostosis
- Developmental protein
- Disease variant
- Disulfide bond
- Glycoprotein
- Lectin
- Metal-binding
- Proteomics identification
- Reference proteome
- Repeat
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| Q5H8C1 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cell communication | ||
| cell-matrix adhesion | ||
| anatomical structure morphogenesis | ||
| craniofacial suture morphogenesis |
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region | ||
| basement membrane | ||
| membrane | ||
| collagen-containing extracellular matrix |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| carbohydrate binding | ||
| metal ion binding |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- FRAS1-related extracellular matrix protein
- Functional Category
-
- G: Carbohydrate transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| anatomical structure morphogenesis |
| cell communication |
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:3827 | congenital diaphragmatic hernia |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000104 | Renal agenesis |
| HP:0000122 | Unilateral renal agenesis |
| HP:0000143 | Rectovaginal fistula |
| HP:0000148 | Vaginal atresia |
| HP:0000200 | Short lingual frenulum |
| HP:0000243 | Trigonocephaly |
| HP:0000248 | Brachycephaly |
| HP:0000252 | Microcephaly |
| Disease ID | Disease Name |
|---|---|
| OMIM:614485 |
|
| ORPHA:217266 |
|
| OMIM:608980 |
|
| ORPHA:2717 |
|
| OMIM:248450 |
|
| ORPHA:3366 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
