CD7
gene geneOn this page
Also known as GP40LEU-9TP41Tp40
Summary
CD7 (CD7 molecule, HGNC:1695) is a protein-coding gene on chromosome 17q25.3, encoding T-cell antigen CD7 (P09564). Transmembrane glycoprotein expressed by T-cells and natural killer (NK) cells and their precursors.
This gene encodes a transmembrane protein which is a member of the immunoglobulin superfamily. This protein is found on thymocytes and mature T cells. It plays an essential role in T-cell interactions and also in T-cell/B-cell interaction during early lymphoid development.
Source: NCBI Gene 924 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 57 total
- MANE Select transcript:
NM_006137
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1695 |
| Approved symbol | CD7 |
| Name | CD7 molecule |
| Location | 17q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GP40, LEU-9, TP41, Tp40 |
| Ensembl gene | ENSG00000173762 |
| Ensembl biotype | protein_coding |
| OMIM | 186820 |
| Entrez | 924 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 4 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron
ENST00000312648, ENST00000578509, ENST00000581434, ENST00000581744, ENST00000582480, ENST00000583376, ENST00000584284, ENST00000850579
RefSeq mRNA: 1 — MANE Select: NM_006137
NM_006137
CCDS: CCDS11807
Canonical transcript exons
ENST00000312648 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001190456 | 82316667 | 82316981 |
| ENSE00001244932 | 82316195 | 82316409 |
| ENSE00001298774 | 82314873 | 82315431 |
| ENSE00004282194 | 82317414 | 82317608 |
Expression profiles
Bgee: expression breadth ubiquitous, 167 present calls, max score 98.38.
FANTOM5 (CAGE): breadth broad, TPM avg 17.5677 / max 885.5485, expressed in 520 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 168966 | 8.6616 | 319 |
| 168967 | 6.9149 | 414 |
| 168965 | 1.9912 | 171 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 98.38 | gold quality |
| blood | UBERON:0000178 | 91.59 | gold quality |
| spleen | UBERON:0002106 | 91.27 | gold quality |
| vermiform appendix | UBERON:0001154 | 88.93 | gold quality |
| lymph node | UBERON:0000029 | 88.72 | gold quality |
| thymus | UBERON:0002370 | 84.75 | gold quality |
| caecum | UBERON:0001153 | 84.26 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.04 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 82.70 | gold quality |
| small intestine | UBERON:0002108 | 80.75 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 79.93 | gold quality |
| bone marrow cell | CL:0002092 | 79.01 | gold quality |
| upper lobe of lung | UBERON:0008948 | 78.42 | gold quality |
| leukocyte | CL:0000738 | 77.92 | gold quality |
| right lung | UBERON:0002167 | 77.73 | gold quality |
| omental fat pad | UBERON:0010414 | 77.71 | gold quality |
| peritoneum | UBERON:0002358 | 77.67 | gold quality |
| right lobe of liver | UBERON:0001114 | 76.78 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 76.63 | gold quality |
| decidua | UBERON:0002450 | 76.62 | silver quality |
| bone marrow | UBERON:0002371 | 76.55 | gold quality |
| mononuclear cell | CL:0000842 | 76.08 | gold quality |
| duodenum | UBERON:0002114 | 76.03 | gold quality |
| monocyte | CL:0000576 | 75.75 | gold quality |
| transverse colon | UBERON:0001157 | 75.11 | gold quality |
| jejunal mucosa | UBERON:0000399 | 75.09 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 75.02 | gold quality |
| body of stomach | UBERON:0001161 | 74.67 | gold quality |
| triceps brachii | UBERON:0001509 | 74.11 | gold quality |
| gluteal muscle | UBERON:0002000 | 74.08 | gold quality |
Single-cell (SCXA)
Detected in 37 experiment(s), a significant marker in 34.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8410 | yes | 3293.04 |
| E-MTAB-6701 | yes | 3175.83 |
| E-MTAB-6653 | yes | 3022.98 |
| E-CURD-122 | yes | 2711.57 |
| E-CURD-77 | yes | 2342.09 |
| E-MTAB-8142 | yes | 2295.46 |
| E-MTAB-10553 | yes | 2115.59 |
| E-CURD-88 | yes | 2066.46 |
| E-GEOD-125970 | yes | 2063.62 |
| E-MTAB-6308 | yes | 1919.19 |
| E-MTAB-9906 | yes | 1796.55 |
| E-HCAD-4 | yes | 1790.78 |
| E-HCAD-1 | yes | 1711.17 |
| E-HCAD-36 | yes | 1626.48 |
| E-HCAD-32 | yes | 1621.29 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CEBPA, SP1, TAL1, TCF3, TWIST2
miRNA regulators (miRDB)
32 targeting CD7, 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-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-328-5P | 99.08 | 64.65 | 1000 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-6829-5P | 98.86 | 65.12 | 1480 |
| HSA-MIR-6885-5P | 98.71 | 64.33 | 902 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-761 | 98.71 | 68.07 | 2051 |
| HSA-MIR-6887-5P | 98.56 | 68.49 | 1295 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
| HSA-MIR-7156-3P | 98.25 | 67.66 | 859 |
| HSA-MIR-4288 | 97.11 | 67.23 | 1636 |
| HSA-MIR-212-5P | 96.83 | 67.43 | 950 |
| HSA-MIR-5194 | 96.77 | 63.91 | 1021 |
| HSA-MIR-4467 | 96.51 | 64.44 | 69 |
| HSA-MIR-6738-5P | 96.33 | 63.61 | 815 |
| HSA-MIR-541-3P | 96.07 | 66.11 | 1271 |
| HSA-MIR-654-5P | 96.07 | 66.18 | 1280 |
| HSA-MIR-2861 | 95.24 | 65.47 | 1056 |
Literature-anchored findings (GeneRIF, showing 29)
- CD7 expression in hematopoitic cells denotes commitment to B-cell and natural killer cells lineages. (PMID:12393702)
- Association of T cell antigen CD7 with type II phosphatidylinositol-4 kinase, a key component in pathways of inositol phosphate turnover. (PMID:12594831)
- a novel fusion protein, designated scFvCD7:sFasL is designed to have leukemia-restricted activity. (PMID:16332967)
- Patients expressing CD7 had significant shorter disease free (DFS) and post-remission survivals (PRS) than patients without CD7 (DFS of 12 months versus 42 months, P=0.005; PRS of 15 months versus 33 months, P=0.013). (PMID:16837044)
- CD7 antigen notably expresses in lung microvascular endothelial cells (LME) and that it acts as an Fc receptor for IgM in LME cells. (PMID:16990185)
- HTLV-IInfected cells acquired a profound decrease of intracellular calcium levels in response to ionomycin, timely correlated with decreased CD7 expression (PMID:17287851)
- differential levels of CD7 identify the progressive stages of lineage commitment in human thymus, initiated from a primitive CD7(-) lympho-myeloid thymic progenitor (PMID:17959857)
- close association of aberrant CD7 expression and FLT3/ITD mutation in the myeloblasts of FLT3/ITD+ acute myeloid leukemia suggests that FLT3/ITD- mediated leukemic transformation occurs in the more early stage of myeloid progenitor cells (PMID:18343790)
- The CD7 expression in CD4(+) T cells discriminates between HL and reactive LAD, suggesting that this could be a useful and practical adjunctive tool in the diagnosis of Hodgkin lymphoma. (PMID:18956470)
- by down-regulating CD7, ATLL cells could have escaped Gal-3-induced apoptosis to run a more aggressive clinical course (PMID:19207946)
- the galectin-1 glycoprotein receptor CD7 maybe a novel target for GdA on T cells. (PMID:19683346)
- low expression in T-cell lymphomas due to Twist2-mediated suppression of promoter activity; enhanced by histone deacetylase inhibitors (PMID:19937140)
- CD7 loss in aggressive natural killer-cell leukemia; a useful diagnostic marker (PMID:20046078)
- These findings indicate a link between epigenetic modifications and CD7 expression in primitive chronic myeloid leukemia cells. (PMID:20175919)
- epigenetic down-regulation of CD7 is associated with acute myeloid leukemia. (PMID:20398252)
- CD7 is present on monocytes and tumor macrophages and its ligand, SECTM1, is frequently expressed in corresponding melanoma tissues (PMID:24157461)
- SECTM1 secreted from bone marrow stromal cells may interact with CD7 to influence GM-CSF expression in leukemic cells. (PMID:24211252)
- We showed that the CADM1 versus CD7 plot is capable of discriminating clonally expanding HTLV-I-infected cells in indolent and acute-type T-cell leukemia-lymphomas and in asymptomatic carriers (PMID:24727323)
- Data show that CD7 promotes extramedullary involvement of the B-ALL line Tanoue in an integrin beta2-dependent manner. (PMID:24920488)
- in acute myeloid leukemia patients the association of CD7 positivity and FLT3 positivity was found to be significant (PMID:25679063)
- Dysfunctional immunoregulation in liver allograft rejection patients can be partly attributed to reduced regulatory T-cell Gal1 expression and reduced responder T-cell CD7 expression. (PMID:29463785)
- FLT3-ITD DNA and mRNA levels in AML do not correlate with CD7, CD33 and CD123 expression. (PMID:32460405)
- [Expression of CD7 and its correlation with prognosis in patients with NK/T-cell lymphoma]. (PMID:33333695)
- CD2 and CD7 are sensitive flow cytometry screening markers for T-lineage acute leukemia(s): a study of 465 acute leukemia cases. (PMID:34019867)
- Quantitative analyses of CD7, CD33, CD34, CD56, and CD123 within the FLT3-ITD/NPM1-MUT myeloblastic/monocytic bulk AML blastic populations. (PMID:34034609)
- Prognostic value of lymphoid marker CD7 expression in acute myeloid leukemia patients undergoing allogeneic hematopoietic cell transplantation in first morphological complete remission. (PMID:34176091)
- T cells expressing CD5/CD7 bispecific chimeric antigen receptors with fully human heavy-chain-only domains mitigate tumor antigen escape. (PMID:35332132)
- Base-Edited CAR7 T Cells for Relapsed T-Cell Acute Lymphoblastic Leukemia. (PMID:37314354)
- CD7 activation regulates cytotoxicity-driven pathology in systemic sclerosis, yielding a target for selective cell depletion. (PMID:38123919)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:ch211-165d12.4 | ENSDARG00000079353 |
| danio_rerio | si:ch211-188c18.1 | ENSDARG00000101654 |
| danio_rerio | si:rp71-81e14.2 | ENSDARG00000103077 |
| mus_musculus | Cd7 | ENSMUSG00000025163 |
| rattus_norvegicus | Cd7 | ENSRNOG00000036674 |
Protein
Protein identifiers
T-cell antigen CD7 — P09564 (reviewed: P09564)
Alternative names: GP40, T-cell leukemia antigen, T-cell surface antigen Leu-9, TP41
All UniProt accessions (7): P09564, J3QLC7, J3QLM0, J3QRF1, J3QS65, J3QS78, Q29VG3
UniProt curated annotations — full annotation on UniProt →
Function. Transmembrane glycoprotein expressed by T-cells and natural killer (NK) cells and their precursors. Plays a costimulatory role in T-cell activation upon binding to its ligand K12/SECTM1. In turn, mediates the production of cytokines such as IL-2. On resting NK-cells, CD7 activation results in a significant induction of interferon-gamma levels.
Subunit / interactions. Interacts with SECTM1.
Subcellular location. Membrane.
Tissue specificity. Expressed on T-cells and natural killer (NK) cells and their precursors.
RefSeq proteins (1): NP_006128* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR039090 | CD7 | Family |
Pfam: PF07686
UniProt features (18 total): repeat 4, region of interest 2, glycosylation site 2, disulfide bond 2, topological domain 2, signal peptide 1, chain 1, lipid moiety-binding region 1, sequence variant 1, transmembrane region 1, domain 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 12HP | X-RAY DIFFRACTION | 2 |
| 12NP | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P09564-F1 | 77.51 | 0.44 |
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 (1): 198
Disulfide bonds (2): 35–142, 48–114
Glycosylation sites (2): 45, 96
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 247 (showing top):
VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GNF2_ZAP70, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY, GOBP_CYTOKINE_PRODUCTION, GOBP_POSITIVE_REGULATION_OF_T_CELL_CYTOKINE_PRODUCTION, GOBP_REGULATION_OF_LYMPHOCYTE_MEDIATED_IMMUNITY, GNF2_IL2RB, GOBP_ADAPTIVE_IMMUNE_RESPONSE, SANSOM_APC_TARGETS_DN
GO Biological Process (7): adaptive immune response (GO:0002250), positive regulation of T cell cytokine production (GO:0002726), immune response (GO:0006955), cell surface receptor protein tyrosine kinase signaling pathway (GO:0007169), T cell activation (GO:0042110), immune system process (GO:0002376), interleukin-2-mediated signaling pathway (GO:0038110)
GO Molecular Function (3): transmembrane signaling receptor activity (GO:0004888), signaling receptor activity (GO:0038023), protein binding (GO:0005515)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| immune response | 1 |
| T cell cytokine production | 1 |
| positive regulation of T cell mediated immunity | 1 |
| positive regulation of cytokine production involved in immune response | 1 |
| regulation of T cell cytokine production | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| enzyme-linked receptor protein signaling pathway | 1 |
| lymphocyte activation | 1 |
| biological_process | 1 |
| cytokine-mediated signaling pathway | 1 |
| cellular response to interleukin-2 | 1 |
| signaling receptor activity | 1 |
| molecular transducer activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1432 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CD7 | CD2 | P06729 | 967 |
| CD7 | ANPEP | P15144 | 963 |
| CD7 | CD5 | P06127 | 956 |
| CD7 | SECTM1 | Q8WVN6 | 951 |
| CD7 | FCGR3B | O75015 | 920 |
| CD7 | NCAM1 | P13591 | 898 |
| CD7 | CD4 | P01730 | 891 |
| CD7 | CD33 | P20138 | 870 |
| CD7 | FCGR3A | P08637 | 867 |
| CD7 | FUT4 | P22083 | 865 |
| CD7 | CD38 | P28907 | 851 |
| CD7 | MME | P08473 | 840 |
| CD7 | ITGAM | P11215 | 830 |
| CD7 | APCDD1 | Q8J025 | 825 |
| CD7 | PTPRC | P08575 | 819 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CD7 | PTRH2 | psi-mi:“MI:0915”(physical association) | 0.620 |
| SEC22A | CD7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD7 | SEC22A | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD7 | MYADM | psi-mi:“MI:0914”(association) | 0.530 |
| PIK3R1 | CD7 | psi-mi:“MI:0914”(association) | 0.530 |
| CD7 | NFKBIA | psi-mi:“MI:0915”(physical association) | 0.370 |
| CPTP | CD7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CD7 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
| PIK3R1 | CD7 | psi-mi:“MI:0914”(association) | 0.350 |
| CD7 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (24): PTRH2 (Affinity Capture-MS), MYADM (Affinity Capture-MS), CD7 (Two-hybrid), CD7 (Reconstituted Complex), PIK3R1 (Affinity Capture-Western), PI4K2A (Affinity Capture-Western), PTRH2 (Affinity Capture-MS), CD7 (Affinity Capture-Western), PIK3CB (Affinity Capture-MS), PIK3R1 (Affinity Capture-MS), SLC30A9 (Affinity Capture-MS), SECTM1 (Affinity Capture-MS), TYW1 (Affinity Capture-MS), RFT1 (Affinity Capture-MS), PIGS (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GW64, A0A5F4BST2, A0PJX4, A8MVS5, A8MWV9, B0FP48, E5RIL1, E9PGG2, O14836, O60320, O95998, P09564, Q01113, Q01114, Q13477, Q2KI80, Q2T9R2, Q3TS39, Q3UPR0, Q3URD2, Q4V9L6, Q5FVJ4, Q5M869, Q6A044, Q6UWJ8, Q75VT8, Q864V4, Q8BRJ3, Q8BX43, Q8C503, Q8IVY1, Q8K5A9, Q8N112, Q8NC24, Q8NDY8, Q8QZT4, Q8R138, Q969Z4, Q9BUF7, Q9CQM1
Diamond homologs: P01635, P01636, P01670, P01671, P01674, P01685, P01696, P04945, P09564, P0C673, P50283, Q08DK1, Q5DX21, Q5U2P2, A2AJ76, D3YXG0, P78310, Q08E08, Q29RR6, Q4KLY3, Q5R764, Q6AYD4, Q6WRH9, Q6WRI0, Q86XK7, Q8K1G0, Q8NDA2, Q8R373, Q90W79, Q90Y50, Q91664, Q925F2, Q92626, Q96IQ7, Q96JA1, Q96RW7, Q99795, Q9D2J4, Q9H6B4, Q9JMB8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
57 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 42 |
| Likely benign | 10 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
509 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:82316662:CCTA:C | donor_loss | 1.0000 |
| 17:82316663:CTAC:C | donor_loss | 1.0000 |
| 17:82316664:TA:T | donor_loss | 1.0000 |
| 17:82316665:A:AC | donor_gain | 1.0000 |
| 17:82316666:C:CC | donor_gain | 1.0000 |
| 17:82316666:C:CG | donor_loss | 1.0000 |
| 17:82316666:CCTG:C | donor_gain | 1.0000 |
| 17:82316668:TGTC:T | donor_gain | 1.0000 |
| 17:82316708:T:TA | donor_gain | 1.0000 |
| 17:82315431:TCTGA:T | acceptor_loss | 0.9900 |
| 17:82315432:C:A | acceptor_loss | 0.9900 |
| 17:82316667:CTGT:C | donor_gain | 0.9900 |
| 17:82315432:C:CC | acceptor_gain | 0.9800 |
| 17:82316250:A:AC | donor_gain | 0.9700 |
| 17:82316666:CCTGT:C | donor_gain | 0.9700 |
| 17:82316702:TTG:T | donor_gain | 0.9700 |
| 17:82317017:C:CT | acceptor_gain | 0.9700 |
| 17:82315429:TAT:T | acceptor_gain | 0.9600 |
| 17:82316056:TCC:T | donor_gain | 0.9600 |
| 17:82316410:C:CC | acceptor_gain | 0.9600 |
| 17:82315427:TTTAT:T | acceptor_gain | 0.9400 |
| 17:82316703:TG:T | donor_gain | 0.9400 |
| 17:82316408:CTCTG:C | acceptor_loss | 0.9300 |
| 17:82316409:TCT:T | acceptor_loss | 0.9300 |
| 17:82316410:CT:C | acceptor_loss | 0.9300 |
| 17:82316411:T:A | acceptor_loss | 0.9300 |
| 17:82316190:CTGA:C | donor_loss | 0.9200 |
| 17:82316191:TGA:T | donor_loss | 0.9200 |
| 17:82316192:GACC:G | donor_loss | 0.9200 |
| 17:82316193:ACCT:A | donor_loss | 0.9200 |
AlphaMissense
1506 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:82316768:A:T | I99N | 0.997 |
| 17:82316774:A:G | L97P | 0.997 |
| 17:82316723:C:G | C114S | 0.996 |
| 17:82316724:A:G | C114R | 0.996 |
| 17:82316724:A:T | C114S | 0.996 |
| 17:82316730:A:C | Y112D | 0.996 |
| 17:82316741:T:A | D108V | 0.996 |
| 17:82316768:A:C | I99S | 0.996 |
| 17:82316768:A:G | I99T | 0.996 |
| 17:82316812:G:C | F84L | 0.996 |
| 17:82316812:G:T | F84L | 0.996 |
| 17:82316813:A:C | F84C | 0.996 |
| 17:82316814:A:G | F84L | 0.996 |
| 17:82316794:G:C | F90L | 0.995 |
| 17:82316794:G:T | F90L | 0.995 |
| 17:82316796:A:G | F90L | 0.995 |
| 17:82316813:A:G | F84S | 0.995 |
| 17:82316888:A:G | L59P | 0.995 |
| 17:82316927:A:G | I46T | 0.995 |
| 17:82316729:T:C | Y112C | 0.994 |
| 17:82316921:C:G | C48S | 0.994 |
| 17:82316922:A:G | C48R | 0.994 |
| 17:82316922:A:T | C48S | 0.994 |
| 17:82316723:C:T | C114Y | 0.993 |
| 17:82316927:A:C | I46S | 0.993 |
| 17:82316730:A:G | Y112H | 0.992 |
| 17:82316741:T:C | D108G | 0.992 |
| 17:82316898:C:A | G56W | 0.992 |
| 17:82316678:A:T | V129D | 0.991 |
| 17:82316722:G:C | C114W | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000433348 (17:82315242 G>A), RS1000813476 (17:82315703 C>G), RS1001155664 (17:82315610 G>A), RS1002051385 (17:82317200 TCCCAAAGCAGCGG>T), RS1002579673 (17:82317035 C>A,T), RS1004691438 (17:82318535 G>A,T), RS1004890602 (17:82314631 C>T), RS1005286223 (17:82314916 C>T), RS1006306903 (17:82315863 G>A,T), RS1006448402 (17:82315643 A>G,T), RS1006606224 (17:82315218 C>T), RS1007725995 (17:82316278 A>C), RS1008396972 (17:82319588 G>C), RS1008429557 (17:82318366 T>C,G), RS1008766667 (17:82317296 C>A,T)
Disease associations
OMIM: gene MIM:186820 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006585_1657 | Blood protein levels | 1.000000e-61 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| bisphenol A | affects expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| 2,3,5-trichloro-6-phenyl-(1,4)benzoquinone | decreases expression | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Benzene | increases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Quercetin | increases expression | 1 |
| Smoke | increases expression | 1 |
| Testosterone | affects cotreatment, increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Triclosan | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| S-Nitrosoglutathione | decreases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B8D6 | Abcam HCT 116 CD7 KO | Cancer cell line | Male |
| CVCL_B9FD | Abcam A-549 CD7 KO | Cancer cell line | Male |
| CVCL_D2EB | Abcam MCF-7 CD7 KO | Cancer cell line | Female |
| CVCL_E8IV | Jurkat-NFAT-Luc2-CD7-KO-3A4 | Cancer cell line | Male |
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.