Entrez 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].
UniProt Summary: Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development. {ECO:0000250}.
Pfam DomainsGO Terms
Pfam Domains
Lectin C
Calx-beta
GO Terms
craniofacial suture morphogenesis
cranial skeletal system development
basement membrane
bone morphogenesis
cell-matrix adhesion
carbohydrate binding
cell-substrate adhesion
bone development
skeletal system morphogenesis
skeletal system development
cell adhesion
biological adhesion
animal organ morphogenesis
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)