HMMR (Hyaluronan Mediated Motility Receptor)
A key regulator of cell motility, mitosis, and genomic stability, implicated in cancer progression and developmental disorders.
Gene Information Card
| Symbol | HMMR |
|---|---|
| Full Name | Hyaluronan Mediated Motility Receptor |
| Gene Type | Protein coding |
| Chromosomal Location | 5q34 |
| NCBI Gene ID | 3161 ncbi.nlm.nih.gov/gene/3161 |
| Ensembl ID | ENSG00000072571 |
| UniProt ID | O75330 |
| OMIM ID | 600936 |
| HGNC ID | 5012 |
| Aliases | RHAMM, CD168, IHABP, HMMR-1 |
Description
The HMMR gene encodes the hyaluronan mediated motility receptor (RHAMM), a multifunctional protein involved in cell motility, hyaluronan binding, and mitotic spindle assembly. RHAMM localizes to the centrosome and spindle poles during mitosis, where it interacts with BRCA1 and other spindle-associated proteins to ensure proper chromosome segregation. Overexpression of HMMR is frequently observed in various cancers and is associated with poor prognosis, genomic instability, and enhanced tumor cell migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of HMMR promotes cell motility and mitotic defects, leading to aneuploidy and tumor progression. | COSMIC, ClinVar, NCBI PubMed |
| Ovarian cancer | Elevated HMMR expression correlates with aggressive disease and resistance to therapy. | COSMIC, NCBI PubMed |
| Prostate cancer | HMMR upregulation enhances hyaluronan-mediated signaling and metastasis. | COSMIC, NCBI PubMed |
| Acute myeloid leukemia (AML) | HMMR is overexpressed in leukemic stem cells and associated with poor outcome. | COSMIC, NCBI PubMed |
| Developmental disorders (e.g., microcephaly) | Biallelic loss-of-function variants in HMMR cause primary microcephaly and impaired mitotic spindle function. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lymph node | 8.9 | Medium |
| Breast | 4.3 | Low |
| Ovary | 3.8 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.6 | High expression |
| HeLa (cervical cancer) | 12.1 | High expression |
| K562 (leukemia) | 9.8 | Medium expression |
| HEK293 (embryonic kidney) | 6.5 | Low expression |
| HepG2 (liver cancer) | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.187C>T (p.Arg63*) | Nonsense | Rare | Loss of function; associated with microcephaly |
| c.1045G>A (p.Glu349Lys) | Missense | Rare | Unknown significance; reported in cancer |
| c.1327C>T (p.Arg443Cys) | Missense | Rare | Unknown significance; reported in cancer |
| Amplification (gene copy number gain) | Copy number gain | Frequent in breast cancer | Overexpression; promotes tumorigenesis |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants (e.g., p.Arg63*) lead to truncated protein and impaired spindle assembly, causing microcephaly.
Gain of Function (GOF)
Gene amplification and overexpression in cancers enhance hyaluronan binding and cell motility, contributing to metastasis.
Dominant Negative (DN)
Not well documented; some missense variants may interfere with wild-type RHAMM function in spindle organization.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hyaluronan metabolism and signaling (Reactome: R-HSA-216083)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
• Mitotic spindle assembly (Reactome: R-HSA-68875)
• BRCA1-mediated DNA damage response (Reactome: R-HSA-5693565)
Protein Summary
The HMMR protein (RHAMM, CD168) is a 724-amino-acid hyaluronan receptor that localizes to the cell surface and intracellularly to centrosomes and mitotic spindles. It regulates cell motility through hyaluronan binding and plays a critical role in mitotic spindle integrity by interacting with BRCA1, TPX2, and Aurora A. RHAMM is overexpressed in many cancers, where it promotes invasion, aneuploidy, and resistance to therapy. Loss-of-function mutations cause primary microcephaly due to defective spindle assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HMMR Knockout HEK293 Cell Line | EDJ-KQ3029 | Human | 3161 | Details Get a Quote |
| HMMR Knockout HeLa Cell Line | EDJ-KQ22886 | Human | 3161 | Details Get a Quote |
| HMMR Knockout A-549 Cell Line | EDJ-KQ24251 | Human | 3161 | Details Get a Quote |
| HMMR Knockout HCT 116 Cell Line | EDJ-KQ24252 | Human | 3161 | Details Get a Quote |
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