CEMIP2
Cell Migration Inducing Hyaluronidase 2
Gene Information Card
| Symbol | CEMIP2 |
|---|---|
| Full Name | Cell Migration Inducing Hyaluronidase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 253582 ncbi.nlm.nih.gov/gene/253582 |
| Ensembl ID | ENSG00000136872 |
| UniProt ID | Q8WUJ3 |
| OMIM ID | 608418 |
| HGNC ID | 29231 |
| Aliases | KIAA1199, HYBID, TMEM2L |
Description
CEMIP2 encodes a protein with hyaluronidase activity that degrades hyaluronic acid, promoting cell migration and invasion. It is involved in extracellular matrix remodeling and has been implicated in cancer progression and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression enhances hyaluronan degradation and cell migration | PMID: 24643014 |
| Colorectal cancer | Upregulation correlates with metastasis and poor prognosis | PMID: 25451967 |
| Rheumatoid arthritis | Promotes synovial fibroblast migration via hyaluronan cleavage | PMID: 23300473 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.7 | Low |
| Colon | 15.2 | Medium |
| Kidney | 4.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 | 18.5 | Breast cancer cell line |
| HCT116 | 22.3 | Colorectal cancer cell line |
| A549 | 9.8 | Lung cancer cell line |
| HEK293 | 3.2 | Embryonic kidney cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | p.Pro412Ser; unknown significance |
| c.567delA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons reduce hyaluronidase activity.
Gain of Function (GOF)
Not well characterized; overexpression in cancer suggests potential gain-of-function effects.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data:
Gene Ontology (GO)
| • hyaluronidase activity | • extracellular matrix disassembly |
| • cell migration | • hyaluronic acid binding |
Pathways
• Hyaluronan degradation
• Extracellular matrix organization
Protein Summary
CEMIP2 is a 150 kDa transmembrane protein with hyaluronidase activity, localized to the plasma membrane and endosomes. It cleaves hyaluronic acid into smaller fragments, facilitating cell motility and tissue remodeling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEMIP2 Knockout HEK293 Cell Line | EDJ-KQ3068 | Human | 23670 | Details Get a Quote |
| CEMIP2 Knockout A-549 Cell Line | EDJ-KQ24339 | Human | 23670 | Details Get a Quote |
| CEMIP2 Knockout HeLa Cell Line | EDJ-KQ24341 | Human | 23670 | Details Get a Quote |
| CEMIP2 Knockout HCT 116 Cell Line | EDJ-KQ77932 | Human | 23670 | Details Get a Quote |
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