CD44
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Also known as INMC56Pgp1PGP-1CD44RHCELLCSPG8Hermes-1CDw44HUTCH-1HUTCH-IECM-IIIH-CAM
Summary
CD44 (CD44 molecule (IN blood group), HGNC:1681) is a protein-coding gene on chromosome 11p13, encoding CD44 antigen (P16070). Cell-surface receptor that plays a role in cell-cell interactions, cell adhesion and migration, helping them to sense and respond to changes in the tissue microenvironment. In precision oncology, CD44 CD44v6 is associated with resistance to Cisplatin in Cervical Cancer (CIViC Level B); 3 further curated variant–drug associations are listed below.
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.
Source: NCBI Gene 960 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 161 total
- Druggable target: yes
- Precision-oncology evidence (CIViC): 4 curated variant–drug associations
- MANE Select transcript:
NM_000610
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1681 |
| Approved symbol | CD44 |
| Name | CD44 molecule (IN blood group) |
| Location | 11p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | IN, MC56, Pgp1, PGP-1, CD44R, HCELL, CSPG8, Hermes-1, CDw44, HUTCH-1, HUTCH-I, ECM-III, H-CAM |
| Ensembl gene | ENSG00000026508 |
| Ensembl biotype | protein_coding |
| OMIM | 107269 |
| Entrez | 960 |
Gene structure
Transcript identifiers
Ensembl transcripts: 99 — 86 protein_coding, 9 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000263398, ENST00000278385, ENST00000278386, ENST00000279452, ENST00000352818, ENST00000415148, ENST00000425428, ENST00000428726, ENST00000433892, ENST00000434472, ENST00000442151, ENST00000524922, ENST00000525209, ENST00000525211, ENST00000525241, ENST00000525293, ENST00000525348, ENST00000525469, ENST00000525685, ENST00000525688, ENST00000526000, ENST00000526025, ENST00000526553, ENST00000526669, ENST00000527326, ENST00000527889, ENST00000528086, ENST00000528455, ENST00000528672, ENST00000528922, ENST00000531110, ENST00000531118, ENST00000531141, ENST00000531873, ENST00000532339, ENST00000533222, ENST00000534082, ENST00000534296, ENST00000904010, ENST00000904011, ENST00000904012, ENST00000904013, ENST00000904014, ENST00000904015, ENST00000904016, ENST00000904017, ENST00000904018, ENST00000904019, ENST00000904020, ENST00000904021, ENST00000904022, ENST00000904023, ENST00000935511, ENST00000969332, ENST00000969333, ENST00000969334, ENST00000969335, ENST00000969336, ENST00000969337, ENST00000969338, ENST00000969339, ENST00000969340, ENST00000969341, ENST00000969342, ENST00000969343, ENST00000969344, ENST00000969345, ENST00000969346, ENST00000969347, ENST00000969348, ENST00000969349, ENST00000969350, ENST00000969351, ENST00000969352, ENST00000969353, ENST00000969354, ENST00000969355, ENST00000969356, ENST00000969357, ENST00000969358, ENST00000969359, ENST00000969360, ENST00000969361, ENST00000969362, ENST00000969363, ENST00000969364, ENST00000969365, ENST00000969366, ENST00000969367, ENST00000969368, ENST00000969369, ENST00000969370, ENST00000969371, ENST00000969372, ENST00000969373, ENST00000969374, ENST00000969375, ENST00000969376, ENST00000969377
RefSeq mRNA: 8 — MANE Select: NM_000610
NM_000610, NM_001001389, NM_001001390, NM_001001391, NM_001001392, NM_001202555, NM_001202556, NM_001202557
CCDS: CCDS31455, CCDS31456, CCDS31457, CCDS31458, CCDS55754, CCDS55755, CCDS7897
Canonical transcript exons
ENST00000428726 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000710485 | 35209965 | 35210054 |
| ENSE00000710490 | 35206112 | 35206243 |
| ENSE00000710505 | 35196746 | 35196874 |
| ENSE00000824450 | 35201671 | 35201787 |
| ENSE00001709592 | 35229129 | 35232402 |
| ENSE00003469853 | 35204512 | 35204640 |
| ENSE00003504402 | 35186832 | 35186900 |
| ENSE00003526469 | 35214852 | 35214914 |
| ENSE00003534676 | 35221654 | 35221732 |
| ENSE00003561898 | 35176575 | 35176740 |
| ENSE00003608645 | 35211246 | 35211449 |
| ENSE00003632343 | 35219316 | 35219387 |
| ENSE00003639932 | 35189835 | 35190065 |
| ENSE00003658180 | 35180274 | 35180407 |
| ENSE00003678600 | 35198121 | 35198246 |
| ENSE00003692209 | 35201082 | 35201195 |
| ENSE00003790928 | 35208105 | 35208206 |
| ENSE00003896435 | 35139171 | 35139370 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 99.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 590.1462 / max 6887.1557, expressed in 1782 samples.
FANTOM5 promoters (27 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 113778 | 556.4359 | 1778 |
| 113795 | 8.6987 | 1354 |
| 113793 | 5.6570 | 1249 |
| 113799 | 3.0503 | 1079 |
| 113790 | 2.2524 | 965 |
| 113798 | 1.7968 | 854 |
| 113796 | 1.7139 | 857 |
| 113791 | 1.2493 | 683 |
| 113797 | 1.2470 | 704 |
| 113834 | 0.9569 | 487 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 99.74 | gold quality |
| stromal cell of endometrium | CL:0002255 | 99.70 | gold quality |
| mammalian vulva | UBERON:0000997 | 99.61 | gold quality |
| penis | UBERON:0000989 | 99.58 | gold quality |
| gingival epithelium | UBERON:0001949 | 99.58 | gold quality |
| upper leg skin | UBERON:0004262 | 99.58 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.57 | gold quality |
| calcaneal tendon | UBERON:0003701 | 99.57 | gold quality |
| gingiva | UBERON:0001828 | 99.56 | gold quality |
| skin of hip | UBERON:0001554 | 99.54 | gold quality |
| islet of Langerhans | UBERON:0000006 | 99.50 | gold quality |
| superficial temporal artery | UBERON:0001614 | 99.46 | gold quality |
| synovial joint | UBERON:0002217 | 99.45 | gold quality |
| skin of leg | UBERON:0001511 | 99.43 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 99.41 | gold quality |
| zone of skin | UBERON:0000014 | 99.40 | gold quality |
| tonsil | UBERON:0002372 | 99.34 | gold quality |
| monocyte | CL:0000576 | 99.32 | gold quality |
| mononuclear cell | CL:0000842 | 99.32 | gold quality |
| tendon | UBERON:0000043 | 99.31 | gold quality |
| leukocyte | CL:0000738 | 99.30 | gold quality |
| colonic epithelium | UBERON:0000397 | 99.29 | gold quality |
| body of pancreas | UBERON:0001150 | 99.23 | gold quality |
| nipple | UBERON:0002030 | 99.21 | gold quality |
| cartilage tissue | UBERON:0002418 | 99.18 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 99.17 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 99.12 | gold quality |
| blood | UBERON:0000178 | 99.07 | gold quality |
| bone marrow cell | CL:0002092 | 99.06 | gold quality |
| mouth mucosa | UBERON:0003729 | 99.06 | gold quality |
Single-cell (SCXA)
Detected in 37 experiment(s), a significant marker in 32.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-83139 | yes | 7728.04 |
| E-CURD-7 | yes | 5987.45 |
| E-MTAB-6075 | yes | 4193.53 |
| E-CURD-11 | yes | 4070.32 |
| E-CURD-6 | yes | 3259.17 |
| E-GEOD-180759 | yes | 1639.39 |
| E-CURD-79 | yes | 634.02 |
| E-HCAD-30 | yes | 421.66 |
| E-HCAD-6 | yes | 259.42 |
| E-MTAB-8142 | yes | 49.14 |
| E-CURD-88 | yes | 39.35 |
| E-HCAD-4 | yes | 38.32 |
| E-HCAD-1 | yes | 36.78 |
| E-GEOD-135922 | yes | 32.30 |
| E-MTAB-9467 | yes | 29.29 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, ATF1, BMAL1, CEBPB, CTNNB1, CUX1, DNMT1, E4F1, EGR1, EGR2, ELF1, ELK3, ESR1, ETS1, F2R, F2RL1, FOS, FOXC1, GATA4, GTF2I, HAND1, HAND2, HDAC1, HES1, HIF1A, HINFP, HMGA1, HOXC6, ID1, IKBKB, IRF6, JUN, KAT5, KDM2A, KLF17, KLF8, MAFK, MEF2A, MEF2D, MYC
miRNA regulators (miRDB)
155 targeting CD44, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
Literature-anchored findings (GeneRIF, showing 40)
- Overexpression of miR-960 suppresses Hedgehog signaling transduction and direct tagets to Smoothened protein, Costal-2 protein and Fused protein. (PMID:23385085)
- Interaction of CD44 when cross-linked on rheumatoid synovial cells with hyaluronan fragments present in the surrounding extracellular matrix augments Fas expression and Fas-mediated apoptosis of synovial cells. (PMID:11466334)
- Hyaluronate receptors mediate glioma cell migration and proliferation. The expression of the HA-receptors, CD44, and RHAMM, is virtually ubiquitous amongst glioma cell lines, and glioma tumor specimens. (PMID:11716065)
- Expression in uterine smooth muscle tumors (PMID:11727257)
- cd44 dependent group A Streptococcus binding to keratinocytes induce cytoskeletal rearrangements (PMID:11740562)
- results suggest that CD44S and CD44v5 are differentially expressed in early and advanced ovarian serous carcinomas and support previous studies that suggest a role for CD44 and stromal hyaluronic acid in the dissemination of ovarian epithelial cancer (PMID:11759056)
- sCD44 levels could be a useful prognostic marker for aggressive lymphoma (PMID:11792412)
- Three SIBLINGs (small integrin-binding ligand, N-linked glycoproteins) enhance factor H’s cofactor activity enabling MCP-like cellular evasion of complement-mediated attack. (PMID:11825898)
- wide prevalence of CD44 cleavage suggests that it plays an important role in the pathogenesis of human tumors (PMID:11839564)
- variant isoforms involved in plasma cell adhesion to bone marrow stromal cells and in the multiple myeloma disease process (PMID:11840273)
- In mice, CD44 plays a role in resolving the inflammatory response following lung injury by clearance of inflammatory hyaluronan fragments, clearance of apoptotic PMNs, and generation of active TGFbeta 1. (PMID:11935029)
- A novel PKC-regulated mechanism controls CD44 ezrin association and directional cell motility. (PMID:12032545)
- TNFalpha and IL-8 regulate the expression and function of CD44 variant proteins in human colon carcinoma cells. (PMID:12090473)
- CD44 directs membrane-type 1 matrix metalloproteinase to lamellipodia by associating with its hemopexin-like domain. (PMID:12145196)
- CD44 interaction with the TGF-betaRI kinase promotes activation of multiple signaling pathways required for ankyrin-membrane interaction, tumor cell migration, and oncogenic events during HA and TGF-beta-mediated metastatic breast tumor progression (PMID:12145287)
- CD44 has a functional role in inflammatory processes and tumor susceptibility (PMID:12168806)
- a signal transduction cascade or cross-talk emanating from CD44 to c-Met (PMID:12183053)
- Initial steps of Shigella binding and cell entry depend on the cholesterol/sphingolipid raft-mediated CD44-IpaB interaction. (PMID:12198147)
- Data suggest that intramembranous processing of CD44 occurs by a presenilin-1-dependent gamma-secretase activity at two distinct sites. (PMID:12223485)
- CD44 spontaneously released from normal bronchial epithelial cells can accumulate as an integral component of the matrix, where it may play a role in the organization of matrices and in anchoring growth factors and chemokines to the matrix (PMID:12226094)
- Hyaluronan-CD44 interaction inhibits migration of osteoclast-like cells by down-regulating MMP-9. (PMID:12235127)
- Engagement of CD44 either by its natural ligand hyaluronan or a specific antibody on a cell line induced tyrosine phosphorylation and activation of focal adhesion kinase. (PMID:12297287)
- reduction in the expression of CD44 may confer growth advantage and malignant properties to tumour cells (PMID:12371152)
- Autocrine/paracrine prostaglandin E2 production by non-small cell lung cancer cells regulates antigen in cox-2-dependent invasion (PMID:12393872)
- exon v10-encoded B[X(7)]B motif is solely responsible for the enhanced adhesive activity of exon v10-containing CD44 isoforms (PMID:12407110)
- results show that genes such as interleukin-6 (IL-6), IL-1alpha, and beta(2)-adrenergic receptor (beta(2)-AR) were specifically up-regulated by CD44 ligation, suggesting a novel role for CD44 in immunoregulation and inflammation (PMID:12411303)
- CD44 induction in THP-1 monocytic cells is the result of the distinct involvement of c-Jun N-terminal kinase (JNK) in lipopolysaccharide-mediated signaling and may require JNK-dependent activation of Egr-1. (PMID:12421945)
- Butyrate significantly inhibited transcription of the CD44 gene and abolished epidermal growth factor-mediated up-regulation of the reporter gene luciferase subcloned upstream to the CD44 promoter (-1.1 kb) and transfected to HM7 cells (PMID:12439723)
- studied CD44v6 expression in intraductal papilloma, and its malignant transformation, intraductal breast carcinoma (PMID:12452061)
- Increase of CD44s, MMP-9, and Ki-67 were involved in the growth and local invasion of osteosarcoma. (PMID:12479099)
- Antagonistic signaling pathways regulate alternative splicing in T cells. (PMID:12485845)
- Crystal retention in human kidney may depend on expression of CD44 antigen-, osteopontin-, and hyaluronic acid-rich cell coats by damaged distal tubular epithelium. (PMID:12506143)
- CD44 silencing is controlled in part by a complex and tumor cell-specific process involving hypermethylation of the CD44 gene promoter and exon 1 regions. (PMID:12508241)
- regulation of interaction with hyaluronan by E-cadherin and role in mediating tumor invasion and branching morphogenesis (PMID:12511569)
- CD44 interaction with the alpha 1(IV)1263-1277 region from basement membrane collagen is modulated by ligand glycosylation (PMID:12574156)
- Our present findings suggest important implications for understanding CD44-dependent signal transduction and a potential role of PS/gamma-secretase activity in the functional regulation of adhesion molecules. (PMID:12629514)
- expressed by cells of the oligodendrocyte lineage in vitro and by oligodendrogliomas in vivo; could play a role in migration of tumor cells in oligodendrocytic tumors (PMID:12635659)
- Crosslinking of CD44 on osteoblastic cells with specific antibodies augmented the expression of intercellular adhesion molecule (ICAM)-1 and vascular cell adhesion molecule (VCAM)-1 (PMID:12650924)
- role of CD44 variant isoform v10 in adhesion of lymphocytes to melanoma cells (PMID:12702150)
- Review. CD44 and ezrin and their respective complex have properties suggesting that they may be important in the process of tumour-endothelium interactions, cell migrations, cell adhesion, tumour progression and metastasis. (PMID:12711360)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cd44a | ENSDARG00000087863 |
| danio_rerio | cd44b | ENSDARG00000089892 |
| mus_musculus | Cd44 | ENSMUSG00000005087 |
| rattus_norvegicus | Cd44 | ENSRNOG00000006094 |
Paralogs (1): LYVE1 (ENSG00000133800)
Protein
Protein identifiers
CD44 antigen — P16070 (reviewed: P16070)
Alternative names: CDw44, Epican, Extracellular matrix receptor III, GP90 lymphocyte homing/adhesion receptor, HUTCH-I, Heparan sulfate proteoglycan, Hermes antigen, Hyaluronate receptor, Phagocytic glycoprotein 1, Phagocytic glycoprotein I
All UniProt accessions (20): P16070, E9PKC6, H0Y2P0, H0Y5E4, H0YCL4, H0YCV9, H0YD13, H0YD17, H0YD90, H0YDV8, H0YDW7, H0YDX6, H0YE40, H0YEA1, H0YES0, H0YEU1, H0YEV3, H0YF08, J3KN83, Q86UZ1
UniProt curated annotations — full annotation on UniProt →
Function. Cell-surface receptor that plays a role in cell-cell interactions, cell adhesion and migration, helping them to sense and respond to changes in the tissue microenvironment. Participates thereby in a wide variety of cellular functions including the activation, recirculation and homing of T-lymphocytes, hematopoiesis, inflammation and response to bacterial infection. Engages, through its ectodomain, extracellular matrix components such as hyaluronan/HA, collagen, growth factors, cytokines or proteases and serves as a platform for signal transduction by assembling, via its cytoplasmic domain, protein complexes containing receptor kinases and membrane proteases. Such effectors include PKN2, the RhoGTPases RAC1 and RHOA, Rho-kinases and phospholipase C that coordinate signaling pathways promoting calcium mobilization and actin-mediated cytoskeleton reorganization essential for cell migration and adhesion. Upon interaction with LGALS9 ligand, activates downstream signaling components including LCK, ERK and MAPK to promotes NK cell activation. (Microbial infection) Promotes foot-and-mouth disease virus internalization via macropinocytosis.
Subunit / interactions. Interacts with PKN2. Interacts with TIAM1 and TIAM2. Interacts with HA, as well as other glycosaminoglycans, collagen, laminin, and fibronectin via its N-terminal segment. Interacts with UNC119. Interacts with PDPN (via extracellular domain); this interaction is required for PDPN-mediated directional migration and regulation of lamellipodia extension/stabilization during cell spreading and migration. Interacts with RDX, EZR and MSN. Interacts with EGFR. Interacts with CD74; this complex is essential for the MIF-induced signaling cascade that results in B cell survival. (Microbial infection) Interacts with foot-and-mouth disease virus protein VP3; this interaction allows FMDV entry into host cell via macropinocytosis.
Subcellular location. Cell membrane. Cell projection. Microvillus. Secreted.
Tissue specificity. Detected in fibroblasts and urine (at protein level). Detected in placenta (at protein level). Isoform 10 (epithelial isoform) is expressed by cells of epithelium and highly expressed by carcinomas. Expression is repressed in neuroblastoma cells.
Post-translational modifications. Proteolytically cleaved in the extracellular matrix by specific proteinases (possibly MMPs) in several cell lines and tumors. N-glycosylated. O-glycosylated; contains chondroitin sulfate glycans which can be more or less sulfated and whose number may affect the accessibility of specific proteinases to their cleavage site(s). It is uncertain if O-glycosylation occurs on Thr-637 or Thr-638. Phosphorylated; activation of PKC results in the dephosphorylation of Ser-706 (constitutive phosphorylation site), and the phosphorylation of Ser-672.
Domain organisation. The lectin-like LINK domain is responsible for hyaluronan binding.
Polymorphism. CD44 is responsible for the Indian blood group system. The molecular basis of the In(A)=In1/In(B)=In2 blood group antigens is a single variation in position 46; In(B), the most frequent allele, has Arg-46.
Miscellaneous. Corresponds to the largest isoform. Alternative splice donor/acceptor on exon 5. Lacks exon 6. Alternative splice donor/acceptor on exon 7. Lacks exon 10. Lacks exon 13. Lacks exon 14. Lacks exon 19. Lacks exons 6-11. Lacks exons 6-13. Lacks exons 6-14. Lacks exons 6-11 and exon 14. Lacks exons 6-11, exon 13 and exon 14. Lacks exons 6-14 and exon 19. Alternative splice donor/acceptor on exon 5 and lacks exon 10. Alternative splice donor/acceptor on exon 7 and lacks exon 10. Soluble isoform, has enhanced hyaluronan binding.
Isoforms (19)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P16070-1 | 1, CD44 | yes |
| P16070-2 | 2, CD44SP | |
| P16070-3 | 3 | |
| P16070-4 | 4, Epidermal | |
| P16070-5 | 5 | |
| P16070-6 | 6 | |
| P16070-7 | 7 | |
| P16070-8 | 8 | |
| P16070-9 | 9 | |
| P16070-10 | 10, CD44E, CD44R1, Epithelial, Keratinocyte | |
| P16070-11 | 11, CD44R2 | |
| P16070-12 | 12, CDw44, Reticulocyte | |
| P16070-13 | 13, CD44R4 | |
| P16070-14 | 14, CD44R5 | |
| P16070-15 | 15, Hermes | |
| P16070-16 | 16 | |
| P16070-17 | 17 | |
| P16070-18 | 18 | |
| P16070-19 | 19, CD44RC |
RefSeq proteins (8): NP_000601, NP_001001389, NP_001001390, NP_001001391, NP_001001392, NP_001189484, NP_001189485, NP_001189486 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000538 | Link_dom | Domain |
| IPR001231 | CD44_antigen | Family |
| IPR016186 | C-type_lectin-like/link_sf | Homologous_superfamily |
| IPR016187 | CTDL_fold | Homologous_superfamily |
| IPR043210 | CD44_antigen-like | Family |
Pfam: PF00193
UniProt features (99 total): splice variant 23, strand 13, compositionally biased region 11, glycosylation site 10, sequence conflict 9, region of interest 6, sequence variant 5, binding site 4, modified residue 4, helix 4, disulfide bond 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, turn 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4PZ3 | X-RAY DIFFRACTION | 1.08 |
| 4PZ4 | X-RAY DIFFRACTION | 1.6 |
| 1UUH | X-RAY DIFFRACTION | 2.2 |
| 6TXS | X-RAY DIFFRACTION | 2.2 |
| 1POZ | SOLUTION NMR | |
| 2I83 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P16070-F1 | 53.31 | 0.21 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 41; 78; 79; 105
Post-translational modifications (4): 672, 686, 697, 706
Disulfide bonds (3): 28–129, 53–118, 77–97
Glycosylation sites (10): 25, 57, 100, 110, 120, 180, 350, 548, 599, 636
Function
Pathways and Gene Ontology
Reactome pathways
19 pathways
| ID | Pathway |
|---|---|
| R-HSA-1474228 | Degradation of the extracellular matrix |
| R-HSA-202733 | Cell surface interactions at the vascular wall |
| R-HSA-2142845 | Hyaluronan metabolism |
| R-HSA-216083 | Integrin cell surface interactions |
| R-HSA-2160916 | Hyaluronan degradation |
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-877300 | Interferon gamma signaling |
| R-HSA-9927418 | Developmental Lineage of Mammary Gland Luminal Epithelial Cells |
| R-HSA-9927432 | Developmental Lineage of Mammary Gland Myoepithelial Cells |
| R-HSA-9938206 | Developmental Lineage of Mammary Stem Cells |
| R-HSA-109582 | Hemostasis |
| R-HSA-1280215 | Cytokine Signaling in Immune system |
| R-HSA-1430728 | Metabolism |
| R-HSA-1474244 | Extracellular matrix organization |
| R-HSA-1630316 | Glycosaminoglycan metabolism |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-71387 | Metabolism of carbohydrates and carbohydrate derivatives |
| R-HSA-913531 | Interferon Signaling |
MSigDB gene sets: 679 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_CD11B_DC_DN, GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE_BY_P53_CLASS_MEDIATOR, HORIUCHI_WTAP_TARGETS_DN, REACTOME_INNATE_IMMUNE_SYSTEM, MCLACHLAN_DENTAL_CARIES_UP, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_CARTILAGE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE
GO Biological Process (24): endocytosis (GO:0006897), inflammatory response (GO:0006954), cell adhesion (GO:0007155), cell-matrix adhesion (GO:0007160), cell migration (GO:0016477), cytokine-mediated signaling pathway (GO:0019221), hyaluronan catabolic process (GO:0030214), positive regulation of heterotypic cell-cell adhesion (GO:0034116), T cell activation (GO:0042110), negative regulation of apoptotic process (GO:0043066), negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518), wound healing, spreading of cells (GO:0044319), cellular response to fibroblast growth factor stimulus (GO:0044344), cartilage development (GO:0051216), positive regulation of ERK1 and ERK2 cascade (GO:0070374), monocyte aggregation (GO:0070487), cell-cell adhesion (GO:0098609), positive regulation of monocyte aggregation (GO:1900625), negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166), regulation of lamellipodium morphogenesis (GO:2000392), anatomical structure morphogenesis (GO:0009653), positive regulation of kinase activity (GO:0033674), regulation of apoptotic process (GO:0042981), system development (GO:0048731)
GO Molecular Function (6): transmembrane signaling receptor activity (GO:0004888), collagen binding (GO:0005518), hyaluronic acid binding (GO:0005540), cargo receptor activity (GO:0038024), cytokine receptor activity (GO:0004896), protein binding (GO:0005515)
GO Cellular Component (18): Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), microvillus (GO:0005902), focal adhesion (GO:0005925), cell surface (GO:0009986), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), secretory granule membrane (GO:0030667), lamellipodium membrane (GO:0031258), macrophage migration inhibitory factor receptor complex (GO:0035692), cell projection (GO:0042995), membrane raft (GO:0045121), extracellular exosome (GO:0070062), extracellular region (GO:0005576), membrane (GO:0016020), protein-containing complex (GO:0032991), cell periphery (GO:0071944)
Reactome top-level categories
Rollup of top-11 pathways:
| Category | Pathways |
|---|---|
| Developmental Lineages of the Mammary Gland | 3 |
| Extracellular matrix organization | 2 |
| Immune System | 2 |
| Hemostasis | 1 |
| Glycosaminoglycan metabolism | 1 |
| Hyaluronan metabolism | 1 |
| Innate Immune System | 1 |
| Interferon Signaling | 1 |
| Metabolism of carbohydrates and carbohydrate derivatives | 1 |
| Metabolism | 1 |
| Cytokine Signaling in Immune system | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 6 |
| vesicle-mediated transport | 2 |
| cytoplasm | 2 |
| plasma membrane region | 2 |
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| import into cell | 1 |
| defense response | 1 |
| cellular process | 1 |
| cell-substrate adhesion | 1 |
| cell motility | 1 |
| cell surface receptor signaling pathway | 1 |
| cellular response to cytokine stimulus | 1 |
| glycosaminoglycan catabolic process | 1 |
| hyaluronan metabolic process | 1 |
| positive regulation of cell-cell adhesion | 1 |
| heterotypic cell-cell adhesion | 1 |
| regulation of heterotypic cell-cell adhesion | 1 |
| lymphocyte activation | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| DNA damage response, signal transduction by p53 class mediator | 1 |
| regulation of DNA damage response, signal transduction by p53 class mediator | 1 |
| negative regulation of signal transduction by p53 class mediator | 1 |
| cell migration | 1 |
| epiboly involved in wound healing | 1 |
| cellular response to growth factor stimulus | 1 |
| response to fibroblast growth factor | 1 |
| skeletal system development | 1 |
| animal organ development | 1 |
| connective tissue development | 1 |
| positive regulation of MAPK cascade | 1 |
| ERK1 and ERK2 cascade | 1 |
| regulation of ERK1 and ERK2 cascade | 1 |
| leukocyte aggregation | 1 |
| cell adhesion | 1 |
| monocyte aggregation | 1 |
| regulation of monocyte aggregation | 1 |
| positive regulation of leukocyte cell-cell adhesion | 1 |
Protein interactions and networks
STRING
6319 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CD44 | SELL | P14151 | 998 |
| CD44 | FN1 | P02751 | 996 |
| CD44 | MMP9 | P14780 | 996 |
| CD44 | SPP1 | P10451 | 996 |
| CD44 | ICAM1 | P05362 | 995 |
| CD44 | EGFR | P00533 | 995 |
| CD44 | VCAM1 | P19320 | 994 |
| CD44 | CXCR4 | P30991 | 994 |
| CD44 | CD74 | P04233 | 993 |
| CD44 | SELP | P16109 | 993 |
| CD44 | VCAN | P13611 | 993 |
| CD44 | SELE | P16111 | 993 |
| CD44 | EZR | P15311 | 993 |
| CD44 | ERBB2 | P04626 | 992 |
| CD44 | MSN | P26038 | 992 |
IntAct
131 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TSPAN15 | ADAM10 | psi-mi:“MI:0914”(association) | 0.840 |
| TSPAN5 | ADAM10 | psi-mi:“MI:0914”(association) | 0.800 |
| CD9 | ADAM10 | psi-mi:“MI:0914”(association) | 0.750 |
| CD44 | sctE | psi-mi:“MI:0915”(physical association) | 0.630 |
| CD44 | SELE | psi-mi:“MI:0915”(physical association) | 0.610 |
| CD44 | SELE | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| CD44 | psi-mi:“MI:0403”(colocalization) | 0.560 | |
| CD44 | psi-mi:“MI:0407”(direct interaction) | 0.540 | |
| CD44 | psi-mi:“MI:0915”(physical association) | 0.540 | |
| CD44 | SLC7A11 | psi-mi:“MI:0403”(colocalization) | 0.540 |
| CD44 | SLC7A11 | psi-mi:“MI:0915”(physical association) | 0.540 |
| SLC7A11 | CD44 | psi-mi:“MI:0915”(physical association) | 0.540 |
| PRKCZ | IPO5 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC39A9 | B4GALT5 | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS3 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS1 | LAMA5 | psi-mi:“MI:0914”(association) | 0.530 |
| CD44 | PDPK1 | psi-mi:“MI:0914”(association) | 0.530 |
| ANKH | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| TFRC | psi-mi:“MI:0915”(physical association) | 0.520 | |
| CD44 | SPP1 | psi-mi:“MI:2364”(proximity) | 0.510 |
| SPP1 | CD44 | psi-mi:“MI:2364”(proximity) | 0.510 |
| CD44 | SPP1 | psi-mi:“MI:0403”(colocalization) | 0.510 |
| TSPAN12 | ADAM10 | psi-mi:“MI:0914”(association) | 0.500 |
| CD74 | CD44 | psi-mi:“MI:0403”(colocalization) | 0.460 |
BioGRID (360): CD44 (Affinity Capture-MS), AIM1 (Affinity Capture-MS), CD44 (Affinity Capture-MS), CD44 (Affinity Capture-MS), CD44 (Affinity Capture-MS), CD44 (Affinity Capture-MS), CD44 (Affinity Capture-MS), CD44 (Affinity Capture-MS), CD44 (Affinity Capture-MS), SQSTM1 (Affinity Capture-MS), CHERP (Affinity Capture-MS), PHRF1 (Affinity Capture-MS), CDC73 (Affinity Capture-MS), CD44 (Affinity Capture-MS), CD44 (Affinity Capture-MS)
ESM2 similar proteins: A1XQX1, A1XQX3, A1XQY0, A1XQY3, A2ATD1, B0JYH6, B1AKI9, D0PRN4, E6ZGB4, E9PUN2, O35181, O75129, O75151, O94933, P15379, P16070, P23470, P49415, P56975, P58401, P80560, Q05909, Q1LY51, Q28143, Q5EGE1, Q5R3F8, Q5R7F5, Q63376, Q63475, Q68BL8, Q68FM6, Q6L8S8, Q6ZNC4, Q76KF0, Q80TJ7, Q80Z10, Q810B9, Q8C341, Q8C8T7, Q8C985
Diamond homologs: O08859, P14745, P15379, P16070, P20944, P26051, P98065, P98066, Q05078, Q28284, Q29423, Q60522, Q6UC88, Q9Y5Y7, Q8BHC0, A0A182C2Z2, C6KFA3, F1RWC3, O08628, O14594, O14786, O35276, O35375, O43897, O57382, O57460, O60462, O60494, O70244, P03994, P07354, P07897, P07898, P0DJJ2, P13497, P13608, P13611, P16112, P25723, P28824
SIGNOR signaling
12 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CAMK2A | “up-regulates activity” | CD44 | phosphorylation |
| PRKACA | up-regulates | CD44 | phosphorylation |
| F2RL1 | “up-regulates quantity by expression” | CD44 | “transcriptional regulation” |
| F2R | “up-regulates quantity by expression” | CD44 | “transcriptional regulation” |
| SNAI2 | “up-regulates quantity by expression” | CD44 | “transcriptional regulation” |
| TWIST1 | “up-regulates quantity by expression” | CD44 | “transcriptional regulation” |
| TWIST2 | “up-regulates quantity by expression” | CD44 | “transcriptional regulation” |
| ADAM10 | “up-regulates activity” | CD44 | cleavage |
| NUP98-HOXA9 | “up-regulates quantity by expression” | CD44 | “transcriptional regulation” |
| ZMYND8 | “down-regulates quantity by repression” | CD44 | “transcriptional regulation” |
| CAMK2A | up-regulates | CD44 | phosphorylation |
| NOTCH1 | “up-regulates quantity by expression” | CD44 | “transcriptional regulation” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 107 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| RHOQ GTPase cycle | 5 | 11.8× | 9e-03 |
| Extra-nuclear estrogen signaling | 5 | 11.1× | 9e-03 |
| PIP3 activates AKT signaling | 7 | 6.1× | 1e-02 |
| Cytokine Signaling in Immune system | 9 | 4.8× | 9e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| response to interleukin-1 | 5 | 27.5× | 6e-04 |
| positive regulation of protein localization to plasma membrane | 7 | 20.5× | 6e-05 |
| protein import into nucleus | 6 | 9.3× | 8e-03 |
| protein localization to plasma membrane | 7 | 8.2× | 6e-03 |
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
161 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 88 |
| Likely benign | 20 |
| Benign | 13 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2954 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:35139366:GATCG:G | donor_gain | 1.0000 |
| 11:35176572:TAGAT:T | acceptor_loss | 1.0000 |
| 11:35176573:A:AG | acceptor_gain | 1.0000 |
| 11:35176574:G:GG | acceptor_gain | 1.0000 |
| 11:35176574:GATTT:G | acceptor_gain | 1.0000 |
| 11:35176737:GCAG:G | donor_gain | 1.0000 |
| 11:35176738:CAGGT:C | donor_loss | 1.0000 |
| 11:35176739:AGG:A | donor_loss | 1.0000 |
| 11:35176740:GGTA:G | donor_loss | 1.0000 |
| 11:35176741:G:GG | donor_gain | 1.0000 |
| 11:35176741:GTAAG:G | donor_loss | 1.0000 |
| 11:35176742:T:A | donor_loss | 1.0000 |
| 11:35180268:TTACA:T | acceptor_loss | 1.0000 |
| 11:35180269:TACA:T | acceptor_loss | 1.0000 |
| 11:35180271:CAGG:C | acceptor_loss | 1.0000 |
| 11:35180272:A:AC | acceptor_loss | 1.0000 |
| 11:35180273:GGT:G | acceptor_gain | 1.0000 |
| 11:35180273:GGTAT:G | acceptor_gain | 1.0000 |
| 11:35180349:G:T | donor_gain | 1.0000 |
| 11:35180379:G:GG | donor_gain | 1.0000 |
| 11:35186830:A:AG | acceptor_gain | 1.0000 |
| 11:35186831:G:GG | acceptor_gain | 1.0000 |
| 11:35186897:A:AG | donor_gain | 1.0000 |
| 11:35186897:A:G | donor_gain | 1.0000 |
| 11:35186897:ATAAG:A | donor_loss | 1.0000 |
| 11:35186900:AG:A | donor_loss | 1.0000 |
| 11:35186901:G:C | donor_loss | 1.0000 |
| 11:35186901:G:GG | donor_gain | 1.0000 |
| 11:35186902:T:A | donor_loss | 1.0000 |
| 11:35189970:G:GT | donor_gain | 1.0000 |
AlphaMissense
4922 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:35180329:T:A | C97S | 1.000 |
| 11:35180329:T:C | C97R | 1.000 |
| 11:35180330:G:C | C97S | 1.000 |
| 11:35180394:C:G | C118W | 1.000 |
| 11:35176662:T:C | L52P | 0.999 |
| 11:35176664:T:A | C53S | 0.999 |
| 11:35176664:T:C | C53R | 0.999 |
| 11:35176665:G:A | C53Y | 0.999 |
| 11:35176665:G:C | C53S | 0.999 |
| 11:35176666:C:G | C53W | 0.999 |
| 11:35176736:T:A | C77S | 0.999 |
| 11:35176736:T:C | C77R | 0.999 |
| 11:35176737:G:A | C77Y | 0.999 |
| 11:35176737:G:C | C77S | 0.999 |
| 11:35176738:C:G | C77W | 0.999 |
| 11:35176740:G:T | R78M | 0.999 |
| 11:35180278:G:T | G80W | 0.999 |
| 11:35180279:G:A | G80E | 0.999 |
| 11:35180330:G:A | C97Y | 0.999 |
| 11:35180331:T:G | C97W | 0.999 |
| 11:35180384:A:T | D115V | 0.999 |
| 11:35180392:T:A | C118S | 0.999 |
| 11:35180392:T:C | C118R | 0.999 |
| 11:35180393:G:A | C118Y | 0.999 |
| 11:35180393:G:C | C118S | 0.999 |
| 11:35176589:T:C | C28R | 0.998 |
| 11:35176591:C:G | C28W | 0.998 |
| 11:35176632:A:G | Y42C | 0.998 |
| 11:35176665:G:T | C53F | 0.998 |
| 11:35176737:G:T | C77F | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000068323 (11:35149119 C>T), RS1000075844 (11:35216470 A>G), RS1000083433 (11:35169909 C>T), RS1000125926 (11:35146439 A>G), RS1000130135 (11:35175463 T>A), RS1000162066 (11:35193402 C>T), RS1000181153 (11:35196412 C>G,T), RS1000187924 (11:35213800 G>A), RS1000236298 (11:35193137 T>A), RS1000245165 (11:35175862 T>C), RS1000274310 (11:35154886 A>C,G), RS1000331875 (11:35163588 G>A), RS1000362496 (11:35143660 T>C), RS1000370356 (11:35230688 A>G), RS1000378414 (11:35158400 C>A)
Disease associations
OMIM: gene MIM:107269 | disease phenotypes: MIM:167030, MIM:606367
GenCC curated gene-disease
Mondo (2): nephrolithiasis, calcium oxalate (MONDO:0957318), immunodeficiency due to CD25 deficiency (MONDO:0011664)
Orphanet (1): Immunodeficiency due to CD25 deficiency (Orphanet:169100)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001450_6 | Response to Vitamin E supplementation | 3.000000e-06 |
| GCST001509_13 | Vitiligo | 2.000000e-09 |
| GCST001795_20 | Systemic lupus erythematosus | 2.000000e-07 |
| GCST001859_39 | Thiazide-induced adverse metabolic effects in hypertensive patients | 9.000000e-06 |
| GCST003155_12 | Systemic lupus erythematosus | 1.000000e-23 |
| GCST003156_4 | Systemic lupus erythematosus | 3.000000e-13 |
| GCST003622_37 | Systemic lupus erythematosus | 4.000000e-11 |
| GCST004785_41 | Vitiligo | 5.000000e-18 |
| GCST005348_89 | Total body bone mineral density | 1.000000e-10 |
| GCST005752_127 | Systemic lupus erythematosus | 1.000000e-08 |
| GCST006444_5 | Bone mineral density (hip) | 5.000000e-07 |
| GCST007400_67 | Systemic lupus erythematosus | 1.000000e-06 |
| GCST008674_14 | Glycemic traits (pleiotropy) | 5.000000e-08 |
| GCST008762_9 | Intake of sweets | 7.000000e-06 |
| GCST009158_2 | Uterine fibroids | 7.000000e-14 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
| EFO:0007702 | hip bone mineral density |
| EFO:0004469 | HOMA-B |
| EFO:0010158 | sugar consumption measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C565232 | Interleukin 2 Receptor, Alpha, Deficiency of (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL3232692 (SINGLE PROTEIN), CHEMBL5465400 (PROTEIN-PROTEIN INTERACTION)
Clinical evidence (CIViC)
Drug × variant × indication: 4 predictive associations from 5 curated evidence items; also 4 prognostic.
| Variant | Therapy | Indication | Effect | Level | CIViC |
|---|---|---|---|---|---|
| CD44 CD44v6 | Cisplatin | Cervical Cancer | Resistance | CIViC B | EID9481 |
| CD44 CD44s Expression | RG7356 | Cancer | Sensitivity/Response | CIViC D | EID825 |
| CD44 CD44v6 | Cisplatin | Stomach Cancer | Resistance | CIViC D | EID9430 +1 |
| CD44 CD44v6 | Cisplatin | Ovarian Cancer | Resistance | CIViC D | EID9429 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs1467558 | CD44 | 0.00 | 0 |
ChEMBL bioactivities
3 potent at pChembl≥5 of 20 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.47 | Kd | 3400 | nM | CHEMBL3237623 |
| 5.44 | IC50 | 3600 | nM | CHEMBL244695 |
| 5.00 | IC50 | 1e+04 | nM | CHEMBL271690 |
PubChem BioAssay actives
3 with measured affinity, of 53 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| (2S,3S,4R,5R,6R)-3-[(2S,3R,4R,5S,6R)-3-acetamido-4-[(2R,3R,4R,5S,6S)-5-[(2S,3R,4R,5S,6R)-3-acetamido-4-[(2R,3R,4R,5S,6S)-5-[(2S,3R,4R,5S,6R)-3-acetamido-4-[(2R,3R,4R,5S,6S)-5-[(2S,3R,4R,5S,6R)-3-acetamido-4-[(2R,3R,4R,5S,6S)-5-[(2S,3R,4R,5S,6R)-3-acetamido-4-[(2R,3R,4R,5S,6S)-5-[(2S,3R,4R,5S,6R)-3-acetamido-4,5-dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-6-carboxy-3,4-dihydroxyoxan-2-yl]oxy-5-hydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-6-carboxy-3,4-dihydroxyoxan-2-yl]oxy-5-hydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-6-carboxy-3,4-dihydroxyoxan-2-yl]oxy-5-hydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-6-carboxy-3,4-dihydroxyoxan-2-yl]oxy-5-hydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-6-carboxy-3,4-dihydroxyoxan-2-yl]oxy-5-hydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-4,5,6-trihydroxyoxane-2-carboxylic acid | 1129494: Binding affinity to immobilized recombinant human CD44 hyaluronan binding domain by surface plasmon resonance assay | kd | 3.4000 | uM |
| 3a,4,5,9b-tetrahydro-3H-cyclopenta[c]quinoline-4,8-dicarboxylic acid | 2037711: Inhibition of full-length human GST-tagged MSN/Venus-Flag-tagged CD44 interaction over-expressed in HEK293 cells incubated for 1 hr by chromatography-based GST-pulldown assay | ic50 | 3.6000 | uM |
| 6-carbamoyl-3a,4,5,9b-tetrahydro-3H-cyclopenta[c]quinoline-4-carboxylic acid | 2037711: Inhibition of full-length human GST-tagged MSN/Venus-Flag-tagged CD44 interaction over-expressed in HEK293 cells incubated for 1 hr by chromatography-based GST-pulldown assay | ic50 | 10.0000 | uM |
CTD chemical–gene interactions
201 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects cotreatment, decreases expression, increases expression, affects expression | 11 |
| sodium arsenite | increases abundance, increases expression, increases reaction, affects cotreatment, affects reaction (+4 more) | 9 |
| Tretinoin | affects cotreatment, increases expression, decreases expression | 8 |
| bisphenol A | increases expression, decreases expression | 7 |
| Cisplatin | decreases response to substance, affects expression, increases expression, affects response to substance | 6 |
| Valproic Acid | affects cotreatment, increases expression, decreases methylation | 6 |
| cobaltous chloride | decreases reaction, increases expression, increases response to substance | 5 |
| Arsenic Trioxide | decreases expression, affects cotreatment, increases expression | 5 |
| Acetaminophen | affects expression, increases expression, increases response to substance | 4 |
| Tobacco Smoke Pollution | affects expression, decreases expression, decreases methylation | 4 |
| Aflatoxin B1 | increases expression, increases methylation, affects expression | 4 |
| Genistein | affects cotreatment, decreases reaction, increases abundance, increases expression, increases reaction (+1 more) | 4 |
| Particulate Matter | affects expression, increases reaction, decreases expression, increases expression | 4 |
| trichostatin A | affects cotreatment, affects expression, decreases reaction, increases expression | 3 |
| Resveratrol | affects binding, decreases reaction, decreases response to substance, increases acetylation, increases activity (+3 more) | 3 |
| Arsenic | decreases reaction, increases abundance, increases expression, increases reaction, decreases expression (+2 more) | 3 |
| Doxorubicin | increases expression, affects binding, decreases response to substance, increases acetylation, increases activity (+2 more) | 3 |
| Hyaluronic Acid | affects abundance, affects reaction, increases acetylation, decreases response to substance, decreases reaction (+3 more) | 3 |
| Nickel | increases expression, decreases reaction, affects expression | 3 |
| Plant Extracts | decreases reaction, increases expression, decreases expression | 3 |
| Smoke | decreases reaction, increases expression | 3 |
| kaempferol | decreases reaction, increases expression, decreases expression, affects cotreatment | 2 |
| tamibarotene | decreases expression, affects expression | 2 |
| perfluorooctane sulfonic acid | increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects reaction, decreases reaction, increases expression, affects cotreatment | 2 |
| Lapatinib | affects cotreatment, decreases reaction, increases abundance, increases expression, increases reaction (+1 more) | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Vehicle Emissions | affects cotreatment, increases expression, affects expression, increases reaction | 2 |
| Benzene | affects expression, increases expression | 2 |
ChEMBL screening assays
9 unique, capped per target: 9 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3242488 | Binding | Binding affinity to immobilized recombinant human CD44 hyaluronan binding domain by surface plasmon resonance assay | Fragment-based identification of an inducible binding site on cell surface receptor CD44 for the design of protein-carbohydrate interaction inhibitors. — J Med Chem |
Cellosaurus cell lines
25 cell lines: 23 cancer cell line, 2 spontaneously immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_0076 | SNU-16 | Cancer cell line | Female |
| CVCL_8389 | OCUM-8 | Cancer cell line | Female |
| CVCL_B1MR | Abcam HeLa CD44 KO | Cancer cell line | Female |
| CVCL_C9DM | SNU-16/Cas9-hyg | Cancer cell line | Female |
| CVCL_D2R9 | CHO/CD44s | Spontaneously immortalized cell line | Female |
| CVCL_D2RA | CHO/CD44v3-10 | Spontaneously immortalized cell line | Female |
| CVCL_D2RB | PANC1/CD44v3-10 | Cancer cell line | Male |
| CVCL_D6CQ | HyCyte THP-1 KO-hCD44 | Cancer cell line | Male |
| CVCL_D7M4 | Ubigene A-549 CD44 KO | Cancer cell line | Male |
| CVCL_D9ZM | Ubigene HeLa CD44 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
5 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02096965 | PHASE1 | COMPLETED | Use of Tolvaptan to Reduce Urinary Supersaturation: a Pilot Proof of Principle Study |
| NCT00381849 | PHASE1/PHASE2 | COMPLETED | Use of an Herbal Preparation to Prevent and Dissolve Kidney Stones |
| NCT06330246 | Not specified | RECRUITING | O. Formigenes Colonization in Calcium Oxalate Kidney Stone Disease |
| NCT06331546 | Not specified | RECRUITING | Gut Oxalate Absorption in Calcium Oxalate Stone Disease |
| NCT06989320 | Not specified | RECRUITING | Endogenous Oxalate Synthesis in Idiopathic Calcium Oxalate Kidney Stone Disease |
Related Atlas pages
- Associated diseases: cervical carcinoma, cancer, gastric carcinoma, ovarian carcinoma
- Biomarker drugs (CIViC) (drugs whose response is associated with variants in this gene — CIViC predictive evidence, not targeting): Cisplatin
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cancer, cervical cancer, cervical carcinoma, gastric cancer, gastric carcinoma, hepatocellular carcinoma, immunodeficiency due to CD25 deficiency, melanoma, nephrolithiasis, calcium oxalate, ovarian cancer, ovarian carcinoma, uterine corpus leiomyoma, vitiligo