FREM1
Summary: This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| FRAS1 related extracellular matrix 1 | MIM:608944 | Ensembl:ENSG00000164946 | HGNC:HGNC:23399 | PA134892147 | 9p22.3 |
Gene Categories:
DRUGGABLE GENOMEGO terms in FREM1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0030246 | carbohydrate binding |
| MF | IEA | GO:0046872 | metal ion binding |
| BP | IEA | GO:0007154 | cell communication |
| BP | IEA | GO:0007160 | cell-matrix adhesion |
| BP | IMP | GO:0097094 | craniofacial suture morphogenesis |
| CC | IEA | GO:0005604 | basement membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
Gene expression in normal tissue: FREM1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FREM1
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FREM1
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