CD37
gene geneOn this page
Also known as TSPAN26
Summary
CD37 (CD37 molecule, HGNC:1666) is a protein-coding gene on chromosome 19q13.33, encoding Leukocyte antigen CD37 (P11049). Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling.
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It may play a role in T-cell-B-cell interactions. Alternate splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 951 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 45 total
- Druggable target: yes
- MANE Select transcript:
NM_001774
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1666 |
| Approved symbol | CD37 |
| Name | CD37 molecule |
| Location | 19q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TSPAN26 |
| Ensembl gene | ENSG00000104894 |
| Ensembl biotype | protein_coding |
| OMIM | 151523 |
| Entrez | 951 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 11 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000323906, ENST00000391859, ENST00000426897, ENST00000535669, ENST00000593512, ENST00000594743, ENST00000595660, ENST00000595725, ENST00000596426, ENST00000597033, ENST00000597602, ENST00000597852, ENST00000598095, ENST00000598134, ENST00000600121, ENST00000890245, ENST00000890246, ENST00000890247, ENST00000944451
RefSeq mRNA: 2 — MANE Select: NM_001774
NM_001040031, NM_001774
CCDS: CCDS12760, CCDS46139
Canonical transcript exons
ENST00000323906 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003055340 | 49340251 | 49340606 |
| ENSE00003483623 | 49335714 | 49335786 |
| ENSE00003495833 | 49339330 | 49339413 |
| ENSE00003509640 | 49337147 | 49337221 |
| ENSE00003610751 | 49336909 | 49337033 |
| ENSE00003625640 | 49337925 | 49338029 |
| ENSE00003633467 | 49338700 | 49338936 |
| ENSE00003848887 | 49335406 | 49335609 |
Expression profiles
Bgee: expression breadth ubiquitous, 194 present calls, max score 99.59.
FANTOM5 (CAGE): breadth broad, TPM avg 130.0043 / max 7768.1553, expressed in 592 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 176958 | 128.6442 | 590 |
| 176962 | 1.2185 | 253 |
| 176963 | 0.1416 | 71 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 99.59 | gold quality |
| monocyte | CL:0000576 | 99.28 | gold quality |
| leukocyte | CL:0000738 | 99.25 | gold quality |
| mononuclear cell | CL:0000842 | 99.22 | gold quality |
| spleen | UBERON:0002106 | 98.74 | gold quality |
| vermiform appendix | UBERON:0001154 | 97.90 | gold quality |
| bone marrow cell | CL:0002092 | 97.09 | gold quality |
| blood | UBERON:0000178 | 97.09 | gold quality |
| lymph node | UBERON:0000029 | 97.08 | gold quality |
| bone marrow | UBERON:0002371 | 96.64 | gold quality |
| right lung | UBERON:0002167 | 95.10 | gold quality |
| gall bladder | UBERON:0002110 | 94.35 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.34 | gold quality |
| upper lobe of lung | UBERON:0008948 | 93.16 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 92.79 | gold quality |
| caecum | UBERON:0001153 | 91.75 | gold quality |
| colonic epithelium | UBERON:0000397 | 90.45 | gold quality |
| sural nerve | UBERON:0015488 | 90.37 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 90.06 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 89.98 | gold quality |
| ileal mucosa | UBERON:0000331 | 89.87 | gold quality |
| rectum | UBERON:0001052 | 89.38 | gold quality |
| right coronary artery | UBERON:0001625 | 89.14 | gold quality |
| small intestine | UBERON:0002108 | 88.92 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 88.16 | gold quality |
| omental fat pad | UBERON:0010414 | 87.60 | gold quality |
| peritoneum | UBERON:0002358 | 87.51 | gold quality |
| spinal cord | UBERON:0002240 | 86.46 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 86.39 | gold quality |
| thymus | UBERON:0002370 | 85.43 | gold quality |
Single-cell (SCXA)
Detected in 48 experiment(s), a significant marker in 44.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8911 | yes | 3553.01 |
| E-HCAD-4 | yes | 3499.85 |
| E-CURD-55 | yes | 3470.62 |
| E-GEOD-149689 | yes | 2738.81 |
| E-CURD-122 | yes | 2582.69 |
| E-MTAB-8207 | yes | 2380.46 |
| E-MTAB-10042 | yes | 2196.29 |
| E-MTAB-7407 | yes | 2154.20 |
| E-MTAB-10553 | yes | 1956.65 |
| E-MTAB-9906 | yes | 1880.40 |
| E-HCAD-24 | yes | 1867.30 |
| E-HCAD-1 | yes | 1836.62 |
| E-MTAB-8884 | yes | 1760.38 |
| E-CURD-88 | yes | 1748.77 |
| E-MTAB-8530 | yes | 1697.48 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
19 targeting CD37, 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-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-4450 | 98.26 | 68.35 | 725 |
| HSA-MIR-1233-5P | 98.19 | 66.71 | 1201 |
| HSA-MIR-6778-5P | 98.19 | 66.59 | 1239 |
| HSA-MIR-1262 | 98.17 | 66.52 | 757 |
| HSA-MIR-4701-3P | 98.17 | 66.25 | 788 |
| HSA-MIR-6736-5P | 98.17 | 66.43 | 760 |
| HSA-MIR-4483 | 98.09 | 64.12 | 1642 |
| HSA-MIR-8089 | 97.74 | 66.21 | 1698 |
| HSA-MIR-4667-5P | 97.61 | 66.67 | 1683 |
| HSA-MIR-1293 | 96.16 | 64.69 | 916 |
Literature-anchored findings (GeneRIF, showing 17)
- CD37 cross-linking on human T cells transduces signals that lead to complete inhibition of CD3-induced T cell proliferation. (PMID:14978098)
- CD37 is important for dectin-1 stabilization in APC membranes and controls dectin-1-mediated IL-6 production. (PMID:17182550)
- provide strong justification for CD37 as a therapeutic target and introduce small modular immunopharmaceuticals as a novel class of targeted therapies for B-cell malignancies (PMID:17440052)
- In the absence of both CD37 and Tssc6, immune function is further altered when compared with CD37- or Tssc6-deficient transgenic mice, demonstrating a complementary role for these two molecules in cellular immunity. (PMID:20709950)
- Identify two tyrosine residues in tetraspanin CD37 directly mediating transduction of survival and apoptotic signals. (PMID:22624718)
- Data indicate that enhanced antibody-dependent cell cytotoxicity (ADCC) is observed against chronic lymphocytic leukemia cells and is sustained at concentrations of SMIP-016(GV) as low at 5E(-6) microg/mL on cells expressing minimal CD37 antigen. (PMID:23883821)
- The CD37-targeted antibody-drug conjugate IMGN529 is highly active against human CLL and in a novel CD37 transgenic murine leukemia model. (PMID:24445867)
- Data indicate that cell differentiation antigen 37 (CD37) is well expressed and a potential drug target in acute myeloid leukemia (AML). (PMID:25934707)
- CD37 is a critical determinant of rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone outcome in diffuse large B-cell lymphoma. (PMID:27760757)
- CD37 is highly expressed in human lymphoma. (PMID:30089630)
- tetraspanin CD37 controls CLEC-2 membrane organization and provides new molecular insights into the mechanisms underlying CLEC-2-dependent dendritic cell migration. (PMID:30185523)
- Low CD37 expression is associated with brain metastasis in lung cancer. (PMID:30854931)
- The anti-CD37 antibody BI 836826 in relapsed/refractory chronic lymphocytic leukemia. (PMID:31089249)
- From a cohort of 137 primary diffuse large B-cell lymphoma (DLBCL) samples. CD37 mutations were exclusively identified in immune-privileged site-associated DLBCL (IP-DLBCL) cases but absent in non-IP-DLBCL cases. Modeling and functional analysis of CD37 missense mutations revealed loss of function by impaired CD37 protein expression at the plasma membrane of human lymphoma B cells. (PMID:31366619)
- CD37 high expression as a potential biomarker and association with poor outcome in acute myeloid leukemia. (PMID:32400873)
- CD37 expression in follicular lymphoma. (PMID:35171311)
- CD20 expression regulates CD37 levels in B-cell lymphoma - implications for immunotherapies. (PMID:38846084)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cd37 | ENSDARG00000075515 |
| mus_musculus | Cd37 | ENSMUSG00000030798 |
| rattus_norvegicus | Cd37 | ENSRNOG00000020699 |
Paralogs (32): TSPAN6 (ENSG00000000003), CD9 (ENSG00000010278), TSPAN9 (ENSG00000011105), TSPAN17 (ENSG00000048140), TSPAN32 (ENSG00000064201), CD82 (ENSG00000085117), TSPAN15 (ENSG00000099282), UPK1A (ENSG00000105668), TSPAN12 (ENSG00000106025), TSPAN13 (ENSG00000106537), TSPAN14 (ENSG00000108219), CD81 (ENSG00000110651), TSPAN11 (ENSG00000110900), PRPH2 (ENSG00000112619), UPK1B (ENSG00000114638), TSPAN1 (ENSG00000117472), TSPAN8 (ENSG00000127324), TSPAN16 (ENSG00000130167), TSPAN2 (ENSG00000134198), CD63 (ENSG00000135404), TSPAN31 (ENSG00000135452), TSPAN3 (ENSG00000140391), CD53 (ENSG00000143119), ROM1 (ENSG00000149489), TSPAN7 (ENSG00000156298), TSPAN18 (ENSG00000157570), TSPAN33 (ENSG00000158457), TSPAN5 (ENSG00000168785), CD151 (ENSG00000177697), TSPAN10 (ENSG00000182612), TSPAN4 (ENSG00000214063), TSPAN19 (ENSG00000231738)
Protein
Protein identifiers
Leukocyte antigen CD37 — P11049 (reviewed: P11049)
Alternative names: Tetraspanin-26
All UniProt accessions (7): P11049, B7ZAN3, M0QZ33, M0QZP6, M0R083, M0R1J1, Q96LM7
UniProt curated annotations — full annotation on UniProt →
Function. Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Participates thereby in diverse biological functions such as cell signal transduction, adhesion, migration and protein trafficking. Upon ligand binding, two signaling pathways are activated, one acting through phosphorylation by LYN leading to cell death or a survival pathway with activation of GSK3B. Plays an essential role essential for clustering of integrin ITGA4/ITGB1 and promotes its mobility in the plasma membrane of B-cells. In turn, participates in ITGA4/ITGB1 integrin-mediated antiapoptotic signaling through AKT. Also plays a role in the migration of dendritic cells and neutrophils to draining lymph nodes, as well as in their integrin-mediated adhesion. Negatively regulates IL-6 responses through direct interaction with SOCS3 thereby preventing constitutive IL-6 signaling. Alternatively, inhibition of IL-6 signaling can also occur via interaction and stabilization of DECTIN1/CLEC7A at the cell membrane to inhibit its ability to promote the production of IL-6.
Subunit / interactions. Interacts with SCIMP. Interacts with SOCS3. Interacts with DECTIN1/CLEC7A.
Subcellular location. Cell membrane.
Tissue specificity. B-lymphocytes. Antigen presenting cells.
Post-translational modifications. Tyrosine phosphorylated; leading to activation of downstream signaling pathways.
Similarity. Belongs to the tetraspanin (TM4SF) family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P11049-1 | 1 | yes |
| P11049-2 | 2 | |
| P11049-3 | 3 |
RefSeq proteins (2): NP_001035120, NP_001765* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000301 | Tetraspanin_animals | Family |
| IPR008952 | Tetraspanin_EC2_sf | Homologous_superfamily |
| IPR018499 | Tetraspanin/Peripherin | Family |
| IPR018503 | Tetraspanin_CS | Conserved_site |
Pfam: PF00335
UniProt features (17 total): topological domain 5, transmembrane region 4, glycosylation site 3, splice variant 2, mutagenesis site 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P11049-F1 | 83.31 | 0.53 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (3): 170, 183, 188
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 13 | complete loss of surface expression. |
| 274 | no loss of surface expression but significant increase of cd37-mediated cell death. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 262 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, WALLACE_PROSTATE_CANCER_RACE_UP, MCLACHLAN_DENTAL_CARIES_UP, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, MODULE_45, MODULE_64, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, HAHTOLA_MYCOSIS_FUNGOIDES_DN, MODULE_118, GOBP_REGULATION_OF_IMMUNOGLOBULIN_PRODUCTION, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_MYELOID_LEUKOCYTE_ACTIVATION
GO Biological Process (7): positive regulation of immunoglobulin production (GO:0002639), regulation of humoral immune response (GO:0002920), negative regulation of myeloid dendritic cell activation (GO:0030886), T cell proliferation (GO:0042098), negative regulation of T cell proliferation (GO:0042130), defense response to protozoan (GO:0042832), regulation of defense response to virus (GO:0050688)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): immunological synapse (GO:0001772), plasma membrane (GO:0005886), membrane (GO:0016020), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| immunoglobulin production | 1 |
| regulation of immunoglobulin production | 1 |
| positive regulation of production of molecular mediator of immune response | 1 |
| humoral immune response | 1 |
| regulation of immune response | 1 |
| myeloid dendritic cell activation | 1 |
| negative regulation of leukocyte activation | 1 |
| regulation of myeloid dendritic cell activation | 1 |
| T cell activation | 1 |
| lymphocyte proliferation | 1 |
| T cell proliferation | 1 |
| regulation of T cell proliferation | 1 |
| negative regulation of lymphocyte proliferation | 1 |
| negative regulation of T cell activation | 1 |
| response to protozoan | 1 |
| defense response to other organism | 1 |
| regulation of response to biotic stimulus | 1 |
| regulation of defense response | 1 |
| regulation of response to external stimulus | 1 |
| defense response to virus | 1 |
| binding | 1 |
| plasma membrane | 1 |
| membrane | 1 |
| cell periphery | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1300 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CD37 | CLEC7A | Q9BXN2 | 930 |
| CD37 | CD19 | P15391 | 865 |
| CD37 | B4E171 | B4E171 | 829 |
| CD37 | CD82 | P27701 | 791 |
| CD37 | CR2 | P20023 | 774 |
| CD37 | CD9 | P21926 | 747 |
| CD37 | CD2 | P06729 | 727 |
| CD37 | UPK1A | O00322 | 725 |
| CD37 | CD81 | P18582 | 706 |
| CD37 | UPK1B | O75841 | 697 |
| CD37 | TSPAN31 | Q12999 | 688 |
| CD37 | CD63 | P08962 | 688 |
| CD37 | TM4SF1 | P30408 | 666 |
| CD37 | CD53 | P19397 | 662 |
| CD37 | PIK3CG | P48736 | 651 |
IntAct
31 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CD37 | LHFPL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD37 | LRRC3B | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD37 | CD53 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD37 | EMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GJB1 | CD37 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PTPN6 | CD37 | psi-mi:“MI:0915”(physical association) | 0.500 |
| LYN | CD37 | psi-mi:“MI:0915”(physical association) | 0.500 |
| CD37 | SYK | psi-mi:“MI:0915”(physical association) | 0.500 |
| CD37 | LYN | psi-mi:“MI:0914”(association) | 0.500 |
| SYK | CD37 | psi-mi:“MI:0915”(physical association) | 0.500 |
| CD37 | PTPN6 | psi-mi:“MI:0915”(physical association) | 0.500 |
| CD37 | SCIMP | psi-mi:“MI:0914”(association) | 0.460 |
| SCIMP | CD37 | psi-mi:“MI:0914”(association) | 0.460 |
| PIK3CD | CD37 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CD37 | PIK3CG | psi-mi:“MI:0915”(physical association) | 0.400 |
| CD37 | AGTR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CD37 | CD53 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CD37 | EMP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CD37 | GJB1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (9): EMP1 (Two-hybrid), CD53 (Two-hybrid), GJB1 (Two-hybrid), LRRC3B (Two-hybrid), LHFPL5 (Two-hybrid), CD37 (Two-hybrid), CD37 (Affinity Capture-RNA), CD37 (Affinity Capture-RNA), CD37 (Affinity Capture-RNA)
ESM2 similar proteins: A0A8M2B5N2, A0A8V0ZLT4, A1L157, O00322, O60637, O75841, P11049, P19075, P21926, P30409, P30413, P30932, P31053, P38572, P38573, P40239, P40240, P40241, Q0D289, Q2KHY8, Q2MJQ7, Q3SZR9, Q4R4Z3, Q4R7W6, Q566D0, Q568Y5, Q58CY8, Q5RDV7, Q5RE11, Q5RH71, Q61470, Q6AYR9, Q6GQF5, Q6P0C6, Q6ZUX7, Q80WR1, Q8WMQ3, Q91Y55, Q925N4, Q96FX8
Diamond homologs: A0A8M2B5N2, A0A8V0ZLT4, B0BM39, B3VSC2, B5X3I6, O14817, O60635, O75954, O97703, P11049, P60033, P60034, Q06AA5, Q11098, Q26499, Q3T0S3, Q4R7W6, Q4V8E0, Q58CY8, Q5RAP3, Q5RC27, Q61470, Q6AYR9, Q6DCQ3, Q6GMK6, Q80WR1, Q8BJU2, Q922J6, Q96SJ8, Q99J59, Q9DCK3, O60636, P19397, P24485, P30932, P35762, P40240, P62079, P62080, Q17QJ5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
45 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 35 |
| Likely benign | 3 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1712 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:49335610:G:GG | donor_gain | 1.0000 |
| 19:49335770:C:G | donor_gain | 1.0000 |
| 19:49336905:CCA:C | acceptor_loss | 1.0000 |
| 19:49336906:CAG:C | acceptor_loss | 1.0000 |
| 19:49336907:A:AG | acceptor_gain | 1.0000 |
| 19:49336907:AGGCT:A | acceptor_loss | 1.0000 |
| 19:49336908:G:GG | acceptor_gain | 1.0000 |
| 19:49336908:GGC:G | acceptor_gain | 1.0000 |
| 19:49336908:GGCTT:G | acceptor_gain | 1.0000 |
| 19:49337029:GCCTG:G | donor_gain | 1.0000 |
| 19:49337030:CCTGG:C | donor_loss | 1.0000 |
| 19:49337031:CTGG:C | donor_loss | 1.0000 |
| 19:49337033:GGTG:G | donor_loss | 1.0000 |
| 19:49337034:G:GG | donor_gain | 1.0000 |
| 19:49337034:GTGA:G | donor_loss | 1.0000 |
| 19:49337035:T:G | donor_loss | 1.0000 |
| 19:49337144:CAG:C | acceptor_loss | 1.0000 |
| 19:49337145:A:AG | acceptor_gain | 1.0000 |
| 19:49337146:G:GA | acceptor_gain | 1.0000 |
| 19:49337146:GT:G | acceptor_gain | 1.0000 |
| 19:49337146:GTAT:G | acceptor_gain | 1.0000 |
| 19:49337220:AGGT:A | donor_loss | 1.0000 |
| 19:49337221:GGTG:G | donor_loss | 1.0000 |
| 19:49337222:GTG:G | donor_loss | 1.0000 |
| 19:49337920:CTCAG:C | acceptor_loss | 1.0000 |
| 19:49337923:AGC:A | acceptor_loss | 1.0000 |
| 19:49337923:AGCT:A | acceptor_gain | 1.0000 |
| 19:49337924:GCT:G | acceptor_gain | 1.0000 |
| 19:49337924:GCTG:G | acceptor_gain | 1.0000 |
| 19:49337926:T:A | acceptor_gain | 1.0000 |
AlphaMissense
1827 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:49338735:G:C | W161C | 0.994 |
| 19:49338735:G:T | W161C | 0.994 |
| 19:49335723:A:C | S27R | 0.991 |
| 19:49335725:C:A | S27R | 0.991 |
| 19:49335725:C:G | S27R | 0.991 |
| 19:49338712:G:T | G154C | 0.989 |
| 19:49335720:G:C | G26R | 0.988 |
| 19:49336960:G:A | G65E | 0.988 |
| 19:49335597:C:A | N19K | 0.987 |
| 19:49335597:C:G | N19K | 0.987 |
| 19:49336959:G:A | G65R | 0.987 |
| 19:49336959:G:C | G65R | 0.987 |
| 19:49338709:T:A | C153S | 0.986 |
| 19:49338710:G:A | C153Y | 0.986 |
| 19:49338710:G:C | C153S | 0.986 |
| 19:49338706:T:A | C152S | 0.985 |
| 19:49338707:G:C | C152S | 0.985 |
| 19:49339333:T:A | C230S | 0.983 |
| 19:49339334:G:C | C230S | 0.983 |
| 19:49336990:G:A | G75D | 0.982 |
| 19:49339390:T:C | C249R | 0.982 |
| 19:49335721:G:A | G26D | 0.981 |
| 19:49335735:T:C | C31R | 0.981 |
| 19:49338009:T:A | W143R | 0.981 |
| 19:49338009:T:C | W143R | 0.981 |
| 19:49338793:T:A | C181S | 0.981 |
| 19:49338794:G:C | C181S | 0.981 |
| 19:49336989:G:C | G75R | 0.980 |
| 19:49336981:C:A | A72D | 0.979 |
| 19:49338011:G:C | W143C | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000234674 (19:49335668 A>C,G), RS1000800657 (19:49335347 G>A,C), RS1001030324 (19:49339060 A>G), RS1001543856 (19:49334411 G>A), RS1002019172 (19:49341030 T>TA), RS1002116492 (19:49335144 C>T), RS1002162077 (19:49334752 G>A), RS1002620669 (19:49339609 G>A), RS1003028928 (19:49339744 G>A,C,T), RS1003122993 (19:49333786 T>G), RS1003624244 (19:49338312 C>T), RS1004458947 (19:49336016 G>A,C,T), RS1004873051 (19:49336271 A>G), RS1004981427 (19:49340907 G>A), RS1005470440 (19:49334674 T>A)
Disease associations
OMIM: gene MIM:151523 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3712880 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — CD molecules
Most potent curated ligand interactions (2 total), top 2:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| naratuximab emtansine | Binding | 9.3 | pEC50 |
| lilotomab | Binding | 8.57 | pKd |
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression, increases expression | 2 |
| Nickel | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| prothioconazole | decreases expression | 1 |
| Arsenic | decreases methylation | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Diuron | decreases expression | 1 |
| Lead | decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Testosterone | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Isotretinoin | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5148893 | Binding | Inhibition of C-terminal his tagged recombinant human CD37 (27 to 547 residues) expressed in HEK293 cells at 10 uM by spectrophotometer based microplate reader method relative to control | Orally Bioavailable Enzymatic Inhibitor of CD38, MK-0159, Protects against Ischemia/Reperfusion Injury in the Murine Heart. — J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.