CD44 Chromosome 11
CD44 molecule (IN blood group)
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What This Gene Does
The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Blood group antigens|CD molecules|Proteoglycans"
Locus Type
gene with protein product
Location
11p13
Ensembl
ENSG00000026508
Associated Conditions (2)
Nephrolithiasis
calcium oxalate
Key Variants
RS112762
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS353612
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS353618
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS353623
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS353630
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS353637
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS353647
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS3794105
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS3794109
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS3794110
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS7110737
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS7116432
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112762 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS353612 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS353618 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS353623 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS353630 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS353637 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS353647 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS3794105 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS3794109 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS3794110 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS7110737 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS7116432 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |