Aliases for CEMIP2 Gene
External Ids for CEMIP2 Gene
Previous HGNC Symbols for CEMIP2 Gene
This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan into intermediate size fragments before internalization and degradation in the lysosome. It also has an interferon-mediated antiviral function in humans through activation of the JAK STAT signaling pathway. The activation of this gene by transcription factor SOX4 in breast cancer cells has been shown to mediate the pathological effects of SOX4 on cancer progression. Naturally occurring mutations in this gene are associated with autosomal recessive non-syndromic hearing loss. [provided by RefSeq, Mar 2017]
GeneCards Summary for CEMIP2 Gene
CEMIP2 (Cell Migration Inducing Hyaluronidase 2) is a Protein Coding gene. Diseases associated with CEMIP2 include Balantidiasis and Benign Familial Infantile Epilepsy. An important paralog of this gene is CEMIP.
UniProtKB/Swiss-Prot Summary for CEMIP2 Gene
Cell surface hyaluronidase that mediates the initial cleavage of extracellular high-molecular-weight hyaluronan into intermediate-size hyaluronan of approximately 5 kDa fragments (PubMed:28246172). Acts as a regulator of angiogenesis and heart morphogenesis by mediating degradation of extracellular hyaluronan, thereby regulating VEGF signaling (By similarity). Is very specific to hyaluronan; not able to cleave chondroitin sulfate or dermatan sulfate (PubMed:28246172).