CD44 Gene (CD44 Molecule): Structure, Function, and Clinical Significance
A comprehensive biomedical overview of the CD44 gene, its protein isoforms, expression patterns, associated diseases, and mutations.
Gene Information Card
| Symbol | CD44 |
|---|---|
| Full Name | CD44 molecule (Indian blood group) |
| Gene Type | protein coding |
| Chromosomal Location | 11p13 (GRCh38/hg38) |
| NCBI Gene ID | 960 ncbi.nlm.nih.gov/gene/960 |
| Ensembl ID | ENSG00000026508 |
| UniProt ID | P16070 |
| OMIM ID | 107269 |
| HGNC ID | 1681 |
| Aliases | CDW44, CSPG8, ECMR-III, HCELL, HUTCH-I, IN, LHR, MC56, MDU2, MDU3, MIC4, MUTCH-I, Pgp1, CD44 antigen |
Description
The CD44 gene encodes a cell surface glycoprotein that serves as a receptor for hyaluronic acid and interacts with other ligands such as osteopontin, collagens, and matrix metalloproteinases. It is involved in cell adhesion, migration, proliferation, and signaling. Alternative splicing of CD44 generates multiple isoforms with distinct functions, particularly in cancer progression and immune responses. CD44 is also a marker for cancer stem cells and is implicated in various inflammatory and autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary inclusion body myopathy | Mutations in CD44 are not directly linked; however, CD44 dysregulation is observed in muscle degeneration. | OMIM |
| Cancer (multiple types) | CD44 overexpression and alternative splicing promote tumor growth, metastasis, and chemoresistance via hyaluronan signaling. | COSMIC, PubMed |
| Rheumatoid arthritis | CD44 mediates leukocyte infiltration into inflamed joints via hyaluronan binding. | PubMed |
| Atherosclerosis | CD44 on macrophages promotes plaque formation and inflammation. | PubMed |
| Inflammatory bowel disease | CD44 variant isoforms are upregulated in inflamed colonic mucosa. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | High | High expression in hematopoietic stem cells |
| Lymph node | High | High in lymphocytes |
| Spleen | High | High in immune cells |
| Lung | Medium | Moderate in alveolar macrophages |
| Skin | Medium | Keratinocytes and fibroblasts |
| Liver | Low | Low in hepatocytes |
| Brain | Low | Low in neurons, higher in microglia |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line |
| MCF7 | Medium | Breast cancer cell line |
| A549 | High | Lung carcinoma cell line |
| HUVEC | Low | Endothelial cells |
| Jurkat | High | T cell leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.220C>T (p.Arg74Cys) | Missense | Rare | Alters ligand binding |
| c.473G>A (p.Arg158His) | Missense | Rare | Potential effect on hyaluronan binding |
| c.735T>C (p.Ser245Pro) | Missense | Rare | Unknown |
| c.1044G>A (p.Thr348Thr) | Synonymous | Rare | No amino acid change |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CD44 are rare; complete knockout in mice leads to mild immune and hematopoietic defects.
Gain of Function (GOF)
Gain-of-function is often due to overexpression or alternative splicing generating variant isoforms (CD44v) that enhance tumorigenicity and metastasis.
Dominant Negative (DN)
Dominant-negative effects are not well documented; however, certain CD44 isoforms may interfere with standard CD44 signaling.
View complete mutation data：
Gene Ontology (GO)
| • hyaluronic acid binding | • cell adhesion molecule binding |
| • collagen binding | • extracellular matrix structural constituent |
| • receptor activity | • signal transducer activity |
| • cell surface | • plasma membrane |
| • extracellular exosome | • cell migration |
| • cell adhesion | • inflammatory response |
| • wound healing | • positive regulation of cell proliferation |
| • cell-cell signaling |
Pathways
• Hyaluronan metabolism
• ECM-receptor interaction
• PI3K-Akt signaling pathway
• Ras signaling pathway
• Hematopoietic cell lineage
• T cell receptor signaling pathway
• NF-kappa B signaling pathway
Protein Summary
The CD44 protein is a type I transmembrane glycoprotein with an extracellular domain that binds hyaluronic acid and other matrix components, a transmembrane domain, and a cytoplasmic tail that interacts with cytoskeletal proteins and signaling molecules. It undergoes extensive alternative splicing and post-translational modifications (glycosylation, sulfation) generating multiple isoforms. CD44 is involved in cell adhesion, migration, lymphocyte homing, and tumor metastasis. It also acts as a co-receptor for growth factors and cytokines, modulating signaling pathways such as PI3K/Akt and Ras/MAPK.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD44 Knockout HEK293 Cell Line | EDJ-KQ3375 | Human | 960 | Details Get a Quote |
| CD44 Knockout A-549 Cell Line | EDJ-KQ25057 | Human | 960 | Details Get a Quote |
| CD44 Knockout HCT 116 Cell Line | EDJ-KQ25058 | Human | 960 | Details Get a Quote |
| CD44 Knockout HeLa Cell Line | EDJ-KQ25059 | Human | 960 | Details Get a Quote |
| Cd44 Knockout Panc02 Cell Line | EDJ-KZ141 | Mouse | 960 | Details Get a Quote |
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