CEMIP2 - cell migration inducing hyaluronidase 2 Gene
Also Known as TMEM2
Species: Homo sapiens
About CEMIP2
This gene has 13 transcripts (splice variants), 206 orthologues and 1 paralogue. Broad expression in placenta (RPKM 42.4), gall bladder (RPKM 25.8) and 23 other tissues.
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]
CEMIP2 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001135820.2 | NP_001129292.1 | cell surface hyaluronidase isoform b |
| NM_001349784.2 | NP_001336713.1 | cell surface hyaluronidase isoform c |
| NM_013390.3 | NP_037522.1 | cell surface hyaluronidase isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables calcium ion binding |
IDA
IDA: Inferred from direct assay
|
28246172 | GOA |
| enables hyalurononglucosaminidase activity |
IDA
IDA: Inferred from direct assay
|
37527776 | GOA |
| NOT enables hyalurononglucosaminidase activity |
IMP
IMP: Inferred from mutant phenotype
|
37196767 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
28246172 | GOA |
CEMIP2 Protein Structure
G8: G8 domain (122 - 245)
- 0
- 300
- 600
- 900
- 1200
- 1383 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cell surface hyaluronidase |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Inguinal Hernia |
|
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| Hypertelorism |
|
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| Myopia |
|
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| Fundus Dystrophy |
|
|
| Balantidiasis |
|
|
| Bartter Syndrome, Type 1, Antenatal |
|
|
| Benign Familial Infantile Epilepsy |
|
|
| Breast Cancer |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | CEMIP2 | VGNC | VGNC:60751 |
| Bos taurus | CEMIP2 | VGNC | VGNC:36021 |
| Macaca mulatta | CEMIP2 | VGNC | VGNC:103249 |
| Rattus norvegicus | CEMIP2 | RGD | RGD:1307941 |
| Canis familiaris | CEMIP2 | VGNC | VGNC:47518 |
| Mus musculus | CEMIP2 | MGD | MGI:1890373 |
| Others | CEMIP2 | NCBI |