Entrez Summary: This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012].
UniProt Summary: Required for normal bone mineralization. {ECO:0000269|PubMed:24519609}.
Pfam DomainsGO Terms
Pfam Domains
CD225
GO Terms
bone mineralization
regulation of bone mineralization
regulation of biomineralization
biomineralization
regulation of biomineral tissue development
biomineral tissue development
bone morphogenesis
regulation of ossification
bone development
skeletal system morphogenesis
ossification
in utero embryonic development
skeletal system development
chordate embryonic development
embryo development ending in birth or egg hatching
animal organ morphogenesis
embryo development
integral component of plasma membrane
tissue development
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)