SCIMP
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Also known as DTFT5783UNQ5783FLJ32580MGC163426MGC163428
Summary
SCIMP (SLP adaptor and CSK interacting membrane protein, HGNC:33504) is a protein-coding gene on chromosome 17p13.2, encoding SLP adapter and CSK-interacting membrane protein (Q6UWF3). Lipid tetraspanin-associated transmembrane adapter/mediator that acts as a scaffold for Src-family kinases and other signaling proteins in immune cells.
This gene encodes a transmembrane adaptor protein that is expressed in antigen-presenting cells and is localized in the immunologic synapse. The encoded protein is involved in major histocompatibility complex class II signal transduction and immune synapse formation. Alternatively spliced transcript variants have been found for this gene.
Source: NCBI Gene 388325 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 25 total
- Druggable target: yes
- MANE Select transcript:
NM_207103
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:33504 |
| Approved symbol | SCIMP |
| Name | SLP adaptor and CSK interacting membrane protein |
| Location | 17p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428 |
| Ensembl gene | ENSG00000161929 |
| Ensembl biotype | protein_coding |
| OMIM | 614406 |
| Entrez | 388325 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000399600, ENST00000571800, ENST00000574081, ENST00000574297
RefSeq mRNA: 3 — MANE Select: NM_207103
NM_001271842, NM_001319190, NM_207103
CCDS: CCDS42242, CCDS62044, CCDS82046
Canonical transcript exons
ENST00000574081 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001274411 | 5214925 | 5214998 |
| ENSE00001736749 | 5221287 | 5221350 |
| ENSE00002229633 | 5234735 | 5234860 |
| ENSE00002385282 | 5223333 | 5223456 |
| ENSE00002662083 | 5208920 | 5210955 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 97.90.
FANTOM5 (CAGE): breadth broad, TPM avg 11.0964 / max 600.9318, expressed in 394 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 164022 | 10.4353 | 391 |
| 164021 | 0.5917 | 143 |
| 164023 | 0.0694 | 38 |
Top tissues by expression
136 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 97.90 | gold quality |
| leukocyte | CL:0000738 | 97.75 | gold quality |
| granulocyte | CL:0000094 | 94.73 | gold quality |
| spleen | UBERON:0002106 | 91.34 | gold quality |
| thymus | UBERON:0002370 | 91.22 | silver quality |
| lymph node | UBERON:0000029 | 91.17 | gold quality |
| vermiform appendix | UBERON:0001154 | 91.15 | gold quality |
| blood | UBERON:0000178 | 88.55 | gold quality |
| cerebellar vermis | UBERON:0004720 | 86.77 | gold quality |
| quadriceps femoris | UBERON:0001377 | 84.34 | gold quality |
| tonsil | UBERON:0002372 | 76.68 | gold quality |
| gall bladder | UBERON:0002110 | 75.89 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 74.47 | gold quality |
| duodenum | UBERON:0002114 | 73.82 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 73.56 | gold quality |
| rectum | UBERON:0001052 | 73.31 | gold quality |
| small intestine | UBERON:0002108 | 73.21 | gold quality |
| placenta | UBERON:0001987 | 72.35 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 71.79 | gold quality |
| lung | UBERON:0002048 | 71.74 | gold quality |
| right lung | UBERON:0002167 | 71.61 | gold quality |
| bone marrow | UBERON:0002371 | 71.01 | gold quality |
| bone marrow cell | CL:0002092 | 70.92 | gold quality |
| liver | UBERON:0002107 | 70.55 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 69.01 | gold quality |
| right adrenal gland | UBERON:0001233 | 68.89 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 68.46 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 67.60 | gold quality |
| left adrenal gland | UBERON:0001234 | 67.35 | gold quality |
| adrenal gland | UBERON:0002369 | 67.31 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8498 | yes | 310.37 |
| E-GEOD-75367 | yes | 106.37 |
| E-CURD-122 | yes | 24.58 |
| E-ANND-3 | yes | 21.37 |
| E-GEOD-70580 | no | 68.99 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
69 targeting SCIMP, 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-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| 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-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-1197 | 99.70 | 67.75 | 1027 |
| HSA-MIR-4716-3P | 99.69 | 66.73 | 1022 |
| HSA-MIR-4502 | 99.65 | 66.99 | 1021 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-4753-5P | 99.54 | 68.51 | 1356 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-671-5P | 99.52 | 67.11 | 1277 |
| HSA-MIR-889-3P | 99.40 | 69.76 | 2103 |
| HSA-MIR-19A-5P | 99.36 | 66.93 | 1675 |
| HSA-MIR-19B-1-5P | 99.36 | 67.07 | 1669 |
Literature-anchored findings (GeneRIF, showing 2)
- results suggest that SCIMP is involved in signal transduction after MHC-II stimulation and therefore serves as a regulator of antigen presentation and other APC functions. (PMID:21930792)
- SCIMP: A Novel Targeted Gene for Postmenopausal Osteoporosis Progression. (PMID:37057624)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Scimp | ENSMUSG00000057135 |
| rattus_norvegicus | Scimp | ENSRNOG00000037409 |
Paralogs (2): BCL2L11 (ENSG00000153094), MEI1 (ENSG00000167077)
Protein
Protein identifiers
SLP adapter and CSK-interacting membrane protein — Q6UWF3 (reviewed: Q6UWF3)
Alternative names: SLP65/SLP76, Csk-interacting membrane protein
All UniProt accessions (2): Q6UWF3, I3L1W2
UniProt curated annotations — full annotation on UniProt →
Function. Lipid tetraspanin-associated transmembrane adapter/mediator that acts as a scaffold for Src-family kinases and other signaling proteins in immune cells. It is involved in major histocompatibility complex class II (MHC-II) signaling transduction in B cells, where it is required in generating the calcium response and enhancing ERK activity upon MHC-II stimulation. In dendritic cells, it is involved in sustaining CLEC7A/DECTIN1 signaling after CLEC7A activation by fungal beta-glucans. It also acts as an agonist-inducible signaling adapter for TLR1, TLR2, TLR3, TLR4, and TLR7 by selectively enabling the expression of pro-inflammatory cytokines IL6 and IL12B in macrophages and acting as a scaffold for phosphorylation of Toll-like receptors by Src-family kinases.
Subunit / interactions. Interacts with CD37, CD53 and CD81. Interacts (via proline-rich region) with LYN (via SH3 domain). Interacts with CSK (via SH2 domain); this interaction is dependent on phosphorylation of Tyr-107. Interacts with BLNK (via SH2 domain); this interaction is dependent on phosphorylation of Tyr-131. Interacts with GRB2 (via SH2 domain); this interaction may be dependent on phosphorylation of Tyr-69. Interacts with TLR4; this interaction occurs upon lipopolysaccharide activation of TLR4 and is enhanced by phosphorylation of Tyr-107 by LYN. This interaction facilitates the phosphorylation of TLR4 by LYN which elicits a selective cytokine response in macrophages.
Subcellular location. Cell membrane. Cytoplasmic vesicle. Phagosome. Cell projection. Ruffle. Filopodium.
Tissue specificity. Expressed in antigen-presenting cells, like peripheral blood leukocytes and monocyte-derived dendritic cells (MDDC) (at protein level). Highly expressed in lymph nodes and spleen. Expressed in antigen-presenting cells. Faintly expressed in the majority of nonimmune system tissues.
Post-translational modifications. Phosphorylated by the Src-family protein tyrosine kinases LYN and SRC. Phosphorylation occurs on tyrosine residues upon MHC-II stimulation. Phosphorylation also occurs on tyrosine residues after activation of CLEC7A/DECTIN1 by particulate beta-glucan. Lipopolysaccharide (LPS) induces phosphorylation of Tyr-69, Tyr-107 and Tyr-131 differentially to allow temporal recruitment of effector proteins GRB2, CSK and BLNK. Phosphorylation of Tyr-69 is immediately induced by LPS stimulation and allows GRB2 to bind. Tyr-107 is phosphorylated 5 minutes after LPS stimulation, which then allows CSK to bind, followed by phosphorylation of Tyr-131 10 minutes after LPS induction, which allows BLNK to bind. Phosphorylation at Tyr-107 by LYN occurs after activation of TLR4 by lipopolysaccharide; phosphorylation enhances binding to TLR4. Palmitoylated.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6UWF3-1 | 1 | yes |
| Q6UWF3-2 | 2 | |
| Q6UWF3-3 | 3 |
RefSeq proteins (3): NP_001258771, NP_001306119, NP_996986* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028181 | SCIMP | Family |
| IPR052133 | Immune_Signaling-Apoptosis_Reg | Family |
Pfam: PF15050
UniProt features (18 total): mutagenesis site 4, modified residue 4, splice variant 3, region of interest 3, lipid moiety-binding region 2, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6UWF3-F1 | 66.71 | 0.15 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (6): 42, 69, 76, 107, 131, 40
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 69 | inhibits interaction with grb2. |
| 81–86 | inhibits interaction with lyn. |
| 107 | inhibits interaction with csk. stimulates activation of several downstream signaling pathways. |
| 131 | inhibits interaction with blnk. inhibits activation of several downstream signaling pathways. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 133 (showing top):
GOBP_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOCC_RUFFLE, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_POSITIVE_REGULATION_OF_STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_CASCADE, GOBP_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_POSITIVE_REGULATION_OF_INTERLEUKIN_12_PRODUCTION
GO Biological Process (12): positive regulation of cytokine production involved in immune response (GO:0002720), positive regulation of dendritic cell cytokine production (GO:0002732), positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666), positive regulation of interleukin-12 production (GO:0032735), positive regulation of interleukin-6 production (GO:0032755), positive regulation of stress-activated MAPK cascade (GO:0032874), toll-like receptor 3 signaling pathway (GO:0034138), toll-like receptor 4 signaling pathway (GO:0034142), toll-like receptor 7 signaling pathway (GO:0034154), toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123), positive regulation of ERK1 and ERK2 cascade (GO:0070374), cellular response to molecule of fungal origin (GO:0071226)
GO Molecular Function (2): molecular adaptor activity (GO:0060090), protein binding (GO:0005515)
GO Cellular Component (12): ruffle (GO:0001726), immunological synapse (GO:0001772), membrane (GO:0016020), filopodium (GO:0030175), leading edge membrane (GO:0031256), uropod membrane (GO:0031259), signaling receptor complex (GO:0043235), phagocytic vesicle (GO:0045335), tetraspanin-enriched microdomain (GO:0097197), plasma membrane (GO:0005886), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| positive regulation of cytokine production | 3 |
| plasma membrane | 3 |
| positive regulation of MAPK cascade | 2 |
| endolysosomal toll-like receptor signaling pathway | 2 |
| binding | 2 |
| cell leading edge | 2 |
| cytokine production involved in immune response | 1 |
| positive regulation of production of molecular mediator of immune response | 1 |
| regulation of cytokine production involved in immune response | 1 |
| dendritic cell cytokine production | 1 |
| positive regulation of leukocyte mediated immunity | 1 |
| positive regulation of cytokine production involved in immune response | 1 |
| regulation of dendritic cell cytokine production | 1 |
| positive regulation of response to biotic stimulus | 1 |
| positive regulation of signal transduction | 1 |
| lipopolysaccharide-mediated signaling pathway | 1 |
| regulation of lipopolysaccharide-mediated signaling pathway | 1 |
| positive regulation of response to external stimulus | 1 |
| interleukin-12 production | 1 |
| regulation of interleukin-12 production | 1 |
| interleukin-6 production | 1 |
| regulation of interleukin-6 production | 1 |
| regulation of stress-activated MAPK cascade | 1 |
| stress-activated MAPK cascade | 1 |
| positive regulation of stress-activated protein kinase signaling cascade | 1 |
| cell surface toll-like receptor signaling pathway | 1 |
| toll-like receptor signaling pathway | 1 |
| ERK1 and ERK2 cascade | 1 |
| regulation of ERK1 and ERK2 cascade | 1 |
| response to molecule of fungal origin | 1 |
| cellular response to biotic stimulus | 1 |
| molecular_function | 1 |
| plasma membrane bounded cell projection | 1 |
| actin-based cell projection | 1 |
| uropod | 1 |
| cell projection membrane | 1 |
| cell trailing edge membrane | 1 |
| protein-containing complex | 1 |
| endocytic vesicle | 1 |
Protein interactions and networks
STRING
588 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCIMP | CSK | P41240 | 669 |
| SCIMP | BLNK | Q8WV28 | 595 |
| SCIMP | ECHDC3 | Q96DC8 | 541 |
| SCIMP | LYN | P07948 | 514 |
| SCIMP | LCP2 | Q13094 | 502 |
| SCIMP | SPPL2A | Q8TCT8 | 482 |
| SCIMP | ZNF232 | Q9UNY5 | 480 |
| SCIMP | GRB2 | P29354 | 476 |
| SCIMP | SORL1 | Q92673 | 418 |
| SCIMP | TREML2 | Q5T2D2 | 404 |
| SCIMP | RIN3 | Q8TB24 | 397 |
| SCIMP | ZCWPW1 | Q9H0M4 | 391 |
| SCIMP | CD2AP | Q9Y5K6 | 377 |
| SCIMP | APH1B | Q8WW43 | 370 |
| SCIMP | CASS4 | Q9NQ75 | 370 |
| SCIMP | PICALM | Q13492 | 370 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CCDC81 | SCIMP | psi-mi:“MI:0915”(physical association) | 0.610 |
| MEOX2 | SCIMP | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCIMP | CSK | psi-mi:“MI:0914”(association) | 0.500 |
| CSK | SCIMP | psi-mi:“MI:0915”(physical association) | 0.500 |
| SCIMP | LYN | psi-mi:“MI:0914”(association) | 0.500 |
| LYN | SCIMP | 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 |
| CD53 | SCIMP | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC81 | CD53 | psi-mi:“MI:0914”(association) | 0.350 |
| SCIMP | GRB2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCIMP | INPPL1 | psi-mi:“MI:0914”(association) | 0.350 |
| SCIMP | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SCIMP | yheS_3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (5): SCIMP (Two-hybrid), INPPL1 (Affinity Capture-MS), CCDC51 (Affinity Capture-MS), SCIMP (Cross-Linking-MS (XL-MS)), SCIMP (Affinity Capture-Luminescence)
ESM2 similar proteins: A0A1B0GRQ0, A0A1B0GVT2, A0JNM1, A2VE22, A5PLA0, B3DHW5, B4DS77, D3Z1Q2, D3ZZP4, F1M2Z5, O75264, O75324, P02725, P04921, P0C2L3, P0DKX4, P59648, P61807, P61808, Q08DP3, Q0VFL4, Q0VFM5, Q0VG18, Q13113, Q17Q87, Q28F36, Q2KIP5, Q2WFL8, Q2YDG7, Q3UU41, Q3ZBJ3, Q5RA41, Q5T1S8, Q6GM22, Q6ITQ4, Q6UWF3, Q78HU7, Q80WK2, Q86UW2, Q8BUM6
Diamond homologs: Q3UU41, Q6UWF3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
25 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
814 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:5214919:ACTT:A | donor_loss | 1.0000 |
| 17:5214920:CTT:C | donor_loss | 1.0000 |
| 17:5214921:TTA:T | donor_loss | 1.0000 |
| 17:5214922:TACA:T | donor_loss | 1.0000 |
| 17:5214923:A:AC | donor_gain | 1.0000 |
| 17:5214923:AC:A | donor_loss | 1.0000 |
| 17:5214924:C:CA | donor_gain | 1.0000 |
| 17:5214924:CA:C | donor_gain | 1.0000 |
| 17:5214924:CAA:C | donor_gain | 1.0000 |
| 17:5214924:CAAG:C | donor_gain | 1.0000 |
| 17:5214924:CAAGA:C | donor_gain | 1.0000 |
| 17:5214994:CATTC:C | acceptor_gain | 1.0000 |
| 17:5214996:TTC:T | acceptor_gain | 1.0000 |
| 17:5214999:C:CC | acceptor_gain | 1.0000 |
| 17:5214999:CTAGA:C | acceptor_loss | 1.0000 |
| 17:5215000:T:G | acceptor_loss | 1.0000 |
| 17:5221285:A:AC | donor_gain | 1.0000 |
| 17:5221286:C:CT | donor_gain | 1.0000 |
| 17:5221286:CT:C | donor_gain | 1.0000 |
| 17:5223352:A:AC | donor_gain | 1.0000 |
| 17:5223353:C:CC | donor_gain | 1.0000 |
| 17:5223353:CAGA:C | donor_gain | 1.0000 |
| 17:5214917:ATAC:A | donor_loss | 0.9900 |
| 17:5214918:TACT:T | donor_loss | 0.9900 |
| 17:5214995:ATTC:A | acceptor_gain | 0.9900 |
| 17:5214997:TC:T | acceptor_gain | 0.9900 |
| 17:5214998:CC:C | acceptor_gain | 0.9900 |
| 17:5221279:CTACT:C | donor_loss | 0.9900 |
| 17:5221280:TACTT:T | donor_loss | 0.9900 |
| 17:5221281:ACTT:A | donor_loss | 0.9900 |
AlphaMissense
949 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:5223420:A:G | W20R | 0.975 |
| 17:5223420:A:T | W20R | 0.975 |
| 17:5223375:C:G | G35R | 0.966 |
| 17:5223421:G:C | F19L | 0.964 |
| 17:5223421:G:T | F19L | 0.964 |
| 17:5223423:A:G | F19L | 0.964 |
| 17:5210842:C:G | D133H | 0.954 |
| 17:5223381:C:G | G33R | 0.945 |
| 17:5210840:A:C | D133E | 0.942 |
| 17:5210840:A:T | D133E | 0.942 |
| 17:5210845:C:G | D132H | 0.940 |
| 17:5223374:C:T | G35D | 0.939 |
| 17:5223407:G:T | A24D | 0.938 |
| 17:5210841:T:A | D133V | 0.937 |
| 17:5210844:T:A | D132V | 0.932 |
| 17:5210841:T:G | D133A | 0.924 |
| 17:5210848:A:G | Y131H | 0.913 |
| 17:5210851:C:G | D130H | 0.913 |
| 17:5210841:T:C | D133G | 0.910 |
| 17:5214950:C:A | R86S | 0.910 |
| 17:5214950:C:G | R86S | 0.910 |
| 17:5223435:A:G | W15R | 0.909 |
| 17:5223435:A:T | W15R | 0.909 |
| 17:5223377:A:G | L34P | 0.906 |
| 17:5214995:A:C | N71K | 0.904 |
| 17:5214995:A:T | N71K | 0.904 |
| 17:5223377:A:C | L34R | 0.901 |
| 17:5223422:A:G | F19S | 0.901 |
| 17:5210844:T:G | D132A | 0.899 |
| 17:5210849:G:C | D130E | 0.894 |
dbSNP variants (sampled 300 via entrez): RS1000372428 (17:5210262 T>A,G), RS1000374401 (17:5232037 C>A,T), RS1000481513 (17:5210049 T>A,C), RS1000572549 (17:5228431 G>C,T), RS1000583727 (17:5216250 T>C), RS1000591110 (17:5233886 C>G), RS1000743809 (17:5210434 A>G), RS1000750221 (17:5222572 A>C,G), RS1000828922 (17:5214427 G>T), RS1001084486 (17:5226738 A>C), RS1001111107 (17:5209002 A>G), RS1001130905 (17:5213311 A>G), RS1001173154 (17:5228767 T>C), RS1001185558 (17:5218226 A>G), RS1001428954 (17:5220516 A>C)
Disease associations
OMIM: gene MIM:614406 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): head and neck cancer (MONDO:0005627)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002245_32 | Alzheimer’s disease (late onset) | 4.000000e-07 |
| GCST007319_14 | Alzheimer’s disease (late onset) | 3.000000e-06 |
| GCST007320_62 | Alzheimer’s disease or family history of Alzheimer’s disease | 9.000000e-10 |
| GCST007321_29 | Family history of Alzheimer’s disease | 5.000000e-08 |
| GCST009021_20 | Alzheimer’s disease | 1.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009268 | family history of Alzheimer’s disease |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6196105 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.64 | EC50 | 22.98 | nM | CHEMBL6162522 |
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| hydroxyhydroquinone | decreases expression, decreases reaction | 1 |
| 4-aminobenzhydrazide | decreases expression, decreases reaction | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Amiodarone | increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Zidovudine | affects cotreatment, increases expression | 1 |
| Okadaic Acid | 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 |
|---|---|---|---|
| CHEMBL6094971 | Binding | Inhibition of SLP76 phosphorylation in human Jurkat cells incubated for 24 hrs by Western blotting analysis | Discovery of Novel PROTAC-Based HPK1 Degraders with High Potency and Selectivity for Cancer Immunotherapy. — J Med Chem |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00138827 | PHASE4 | COMPLETED | Mouth Care Regimes During Radiotherapy |
| NCT00158041 | PHASE4 | COMPLETED | Subcutaneous Amifostine Safety Study |
| NCT00198263 | PHASE4 | COMPLETED | Study Using the Medpulser Electroporation System With Bleomycin to Treat Head and Neck Cancer |
| NCT00333099 | PHASE4 | COMPLETED | INEC Study: Immuno-modulating Enteral Nutrition in Cancer |
| NCT00365508 | PHASE4 | COMPLETED | Counseling and Nicotine Replacement Therapy in Helping Adult Smokers Quit Smoking |
| NCT00666978 | PHASE4 | COMPLETED | Health Education Counseling With or Without Bupropion in Helping African Americans Stop Smoking |
| NCT00772681 | PHASE4 | COMPLETED | Efficacy of Chemoradiotherapy After Neoadjuvant Cisplatin and Docetaxel in the Nasopharynx Carcinoma |
| NCT00813631 | PHASE4 | UNKNOWN | The Effect on an Ionic Silver Dressing in Head and Neck Patients With Malignant Fungating Wound |
| NCT01317589 | PHASE4 | COMPLETED | Treatment of Pain in Head-and-Neck Cancer Patients: is Methadone More Effective? |
| NCT01418118 | PHASE4 | COMPLETED | Assessment of the Effects of Pressors on Graft Blood Flow After Free Tissue Transfer Surgery |
| NCT01553032 | PHASE4 | COMPLETED | Skin Changes in Head and Neck Cancer During Immuno-(Chemo-) And Radiotherapy With Erbitux® (HICARE) |
| NCT02015650 | PHASE4 | TERMINATED | Cetuximab Compared to Mitomycin-C and 5-Fluorouracil for Locally Advanced Squamous Cell Carcinomas of the Head and Neck |
| NCT02049112 | PHASE4 | COMPLETED | A New Oral salIvary equivAlent Compared to Two moisturizinG Mouth sprAys in Patients With xeRostomiA: NIAGARA Study |
| NCT02241083 | PHASE4 | COMPLETED | The Effect of Norepinephrine and Dopamine on Radial Forearm Free Flap Tissue Oxygen Pressure and Microdialysate Metabolite Measurements |
| NCT02241876 | PHASE4 | UNKNOWN | THE USE OF N-ACETYLCYSTEINE ATTENUATING CISPLATIN-INDUCED TOXICITIES BY OXIDATIVE STRESS |
| NCT02597582 | PHASE4 | COMPLETED | LigaSure Small Jaw® Versus Conventional Neck Dissection in Head and Neck Cancer Patients |
| NCT02622880 | PHASE4 | COMPLETED | Comparison of Two Immunomodulatory Formulas on the Number of Postoperative Infections in Head & Neck Cancer Patients |
| NCT02880072 | PHASE4 | COMPLETED | Absorption of Orally Ingested Phosphate in Refeeding Syndrome |
| NCT02926573 | PHASE4 | COMPLETED | Perioperative Gabapentin Use In Head And Neck Mucosal Surgery Patients |
| NCT03607227 | PHASE4 | COMPLETED | Continous Popliteal Block for Microvascular Free Flap Reconstruction in Ear, Nose and Throat Surgery |
| NCT03714867 | PHASE4 | WITHDRAWN | Pre-Operative Pregabalin for Post-Operative Pain in Head and Neck Cancer Surgery |
| NCT04155008 | PHASE4 | TERMINATED | Nutrition and Pharmacological Algorithm for Oncology Patients Study |
| NCT04246697 | PHASE4 | COMPLETED | Multimodal Pain Study in Free Flap Patients |
| NCT04292990 | PHASE4 | UNKNOWN | Comparison of Transdermal Fentanyl and Morphine for Oral Mucositis Pain in Nasopharyngeal Cancer Patients |
| NCT04507035 | PHASE4 | UNKNOWN | Treating Locally Advanced Head and Neck Malignant Tumor With Anlotinib and Chemoradiotherapy |
| NCT04977271 | PHASE4 | WITHDRAWN | Mood Disorders in Head and Neck Cancer Patients |
| NCT05046028 | PHASE4 | COMPLETED | Individualization of Nutritive Sensory Support Of Radiation Therapy |
| NCT05055726 | PHASE4 | COMPLETED | Benzydamine Oromucosal Solution in Oral Mucositis (BOOM) |
| NCT06521697 | PHASE4 | NOT_YET_RECRUITING | Effects of Minimal-Flow Sevoflurane and Multimodal Analgesia in Head and Neck Cancer Surgery |
| NCT06734598 | PHASE4 | RECRUITING | Efficacy of Botox Injection of the Masticatory Muscles in Head &Neck Cancer Patients with Trismus After Radiotherapy |
| NCT06807034 | PHASE4 | ACTIVE_NOT_RECRUITING | Impact of the Oral Microbiota on Relapse in HNSCC Patients |
| NCT06879691 | PHASE4 | ACTIVE_NOT_RECRUITING | A Trial of Nimotuzumab and Pinkiller Efficacy and Pain in Advanced Head and Neck Squamous Cell Carcinoma |
| NCT07158164 | PHASE4 | RECRUITING | DPYD Pharmacogenomics and Fluoropyrimidine (FP) Dose-Adjustment |
| NCT07189897 | PHASE4 | RECRUITING | Apixaban or Enoxaparin After Head and Neck Cancer Surgery |
| NCT00002476 | PHASE3 | COMPLETED | Radiation Therapy With or Without Chemotherapy in Treating Patients With Advanced Head and Neck Cancer |
| NCT00002496 | PHASE3 | COMPLETED | Radiation Therapy With or Without Chemotherapy in Treating Patients With Advanced Cancer of the Larynx |
| NCT00002507 | PHASE3 | COMPLETED | Radiation Therapy and Chemotherapy in Treating Patients With Head and Neck Cancer |
| NCT00002555 | PHASE3 | COMPLETED | High-Dose Radiation Therapy With or Without Chemotherapy in Treating Patients With Head and Neck Cancer |
| NCT00002654 | PHASE3 | COMPLETED | Radiation Therapy With or Without Cisplatin in Treating Patients With Advanced Head and Neck Cancer |
| NCT00002659 | PHASE3 | UNKNOWN | Cisplatin Plus Epinephrine in Treating Patients With Recurrent or Refractory Head and Neck Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): head and neck cancer