CEMIP2
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:605835 Ensembl IDEnsembl:ENSG00000135048 HGNC IDHGNC:HGNC:11869 PHARMGKB IDPA36570 Map Location9q21.13 | |||||
GO terms in CEMIP2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0004415 | hyalurononglucosaminidase activity |
| MF | IDA | GO:0005509 | calcium ion binding |
| MF | HDA | GO:0045296 | cadherin binding |
| BP | IEA | GO:0001525 | angiogenesis |
| BP | IDA | GO:0030214 | hyaluronan catabolic process |
| BP | ISS | GO:1903670 | regulation of sprouting angiogenesis |
Gene expression in normal tissue: CEMIP2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CEMIP2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CEMIP2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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