Tbio FREM1 FRAS1-related extracellular matrix protein 1

Protein Summary

Description

Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development. 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]

Uniprot Accession IDs

• Q5H8C1
• B7ZBX4
• Q5VV00
• Q5VV01
• Q6MZI4
• Q8NEG9
• Q96LI3

Gene Name

• FREM1

Ensembl ID

• ENST00000380880
• ENSP00000370262
• ENSG00000164946
• ENST00000380894
• ENSP00000370278
• ENST00000422223
• ENSP00000412940
• ENST00000427623
• ENSP00000412597

Symbol

• C9orf143
• C9orf145
• C9orf154
• BNAR
• MOTA
• TILRR
• TRIGNO2
• C9orf143
• C9orf145
• C9orf154

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
gene perturbation	0.81
trait	0.75
cell line	0.66
phenotype	0.62
tissue sample	0.61

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 50.64   (req: < 5)

Gene RIFs: 23   (req: <= 3)

Antibodies: 81   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 50.64   (req: >= 5)

Gene RIFs: 23   (req: > 3)

Antibodies: 81   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0