GRAP2
gene geneOn this page
Also known as Grf40GrbXGRBLGGADSMona
Summary
GRAP2 (GRB2 related adaptor protein 2, HGNC:4563) is a protein-coding gene on chromosome 22q13.1, encoding GRB2-related adapter protein 2 (O75791). Interacts with SLP-76 to regulate NF-AT activation.
This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
Source: NCBI Gene 9402 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 52 total
- MANE Select transcript:
NM_004810
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4563 |
| Approved symbol | GRAP2 |
| Name | GRB2 related adaptor protein 2 |
| Location | 22q13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Grf40, GrbX, GRBLG, GADS, Mona |
| Ensembl gene | ENSG00000100351 |
| Ensembl biotype | protein_coding |
| OMIM | 604518 |
| Entrez | 9402 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 4 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000344138, ENST00000407075, ENST00000420971, ENST00000460449, ENST00000461082, ENST00000478445, ENST00000481263, ENST00000861558
RefSeq mRNA: 5 — MANE Select: NM_004810
NM_001291824, NM_001291825, NM_001291826, NM_001291828, NM_004810
CCDS: CCDS13999
Canonical transcript exons
ENST00000344138 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000654830 | 39965990 | 39966158 |
| ENSE00000654832 | 39969411 | 39969533 |
| ENSE00001244839 | 39968042 | 39968272 |
| ENSE00001244872 | 39970905 | 39973721 |
| ENSE00001488758 | 39901084 | 39901330 |
| ENSE00003463883 | 39955819 | 39955910 |
| ENSE00003491090 | 39947093 | 39947184 |
| ENSE00003543586 | 39960055 | 39960174 |
Expression profiles
Bgee: expression breadth ubiquitous, 159 present calls, max score 97.79.
FANTOM5 (CAGE): breadth broad, TPM avg 9.8865 / max 787.7158, expressed in 329 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 192389 | 3.3664 | 154 |
| 192385 | 3.2920 | 171 |
| 192382 | 1.6544 | 138 |
| 192387 | 0.4262 | 79 |
| 192386 | 0.3202 | 78 |
| 192381 | 0.2438 | 94 |
| 192383 | 0.2065 | 85 |
| 192384 | 0.1916 | 83 |
| 192388 | 0.1438 | 55 |
| 192380 | 0.0417 | 25 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 97.79 | gold quality |
| mononuclear cell | CL:0000842 | 97.60 | gold quality |
| leukocyte | CL:0000738 | 97.37 | gold quality |
| granulocyte | CL:0000094 | 93.67 | gold quality |
| blood | UBERON:0000178 | 87.42 | gold quality |
| thymus | UBERON:0002370 | 82.74 | gold quality |
| lymph node | UBERON:0000029 | 82.46 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.52 | gold quality |
| spleen | UBERON:0002106 | 79.25 | gold quality |
| colonic epithelium | UBERON:0000397 | 78.02 | gold quality |
| endometrium epithelium | UBERON:0004811 | 77.33 | gold quality |
| vermiform appendix | UBERON:0001154 | 76.94 | gold quality |
| bone marrow cell | CL:0002092 | 75.20 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 74.77 | gold quality |
| right lung | UBERON:0002167 | 74.35 | gold quality |
| frontal pole | UBERON:0002795 | 74.09 | gold quality |
| paraflocculus | UBERON:0005351 | 73.95 | gold quality |
| bone marrow | UBERON:0002371 | 73.81 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 73.42 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 73.38 | gold quality |
| gall bladder | UBERON:0002110 | 73.16 | gold quality |
| upper lobe of lung | UBERON:0008948 | 73.10 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 72.16 | gold quality |
| tibial nerve | UBERON:0001323 | 71.94 | gold quality |
| small intestine | UBERON:0002108 | 71.73 | gold quality |
| caecum | UBERON:0001153 | 71.72 | gold quality |
| mucosa of stomach | UBERON:0001199 | 70.08 | gold quality |
| rectum | UBERON:0001052 | 70.07 | gold quality |
| tonsil | UBERON:0002372 | 70.05 | gold quality |
| secondary oocyte | CL:0000655 | 67.66 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-122 | yes | 23.14 |
| E-MTAB-9221 | yes | 19.47 |
| E-HCAD-10 | yes | 16.22 |
| E-MTAB-9067 | yes | 15.92 |
| E-CURD-112 | yes | 15.88 |
| E-MTAB-8410 | yes | 11.36 |
| E-MTAB-10042 | yes | 8.55 |
| E-MTAB-9801 | yes | 7.59 |
| E-HCAD-1 | yes | 7.30 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): SPI1, SPIB
miRNA regulators (miRDB)
85 targeting GRAP2, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-130B-5P | 99.83 | 68.50 | 1888 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
Literature-anchored findings (GeneRIF, showing 15)
- Upstream open reading frames regulate translation of this protein’s mRNA in megakaryocytes. (PMID:12487779)
- Exogenous expression of GrpL in a GrpL-negative B cell line leads to enhanced antigen receptor-induced extracellular signal-related kinase and p38 mitogen-activated protein kinase phosphorylation. (PMID:12496419)
- AML-1 plays a role in driving Mona protein expression in T and myelomonocytic cells. (PMID:12554803)
- Plays a tissue-specific role as an inhibitor of RET receptor tyrosine kinase mitogenic signaling (PMID:12917638)
- Gads plays a dominant role in CD28-mediated IL-2 promoter activation. (PMID:16818765)
- The integrity of T-cell receptor signaling in vivo is sustained both by strong selection of SLP-76 for the Gads C-SH3 domain and by a capacity to buffer intrinsic crossreactivity. (PMID:17235283)
- Our findings define a pathway involving CD28 binding to Grb-2 and its co-operativity with Vav1 in the regulation of T-cell co-stimulation. (PMID:18295596)
- Consistent Grap-2 expression suggests a specific role for this adaptor in human medullary thyroid carcinoma, while qualitative alterations do not appear to influence RET signaling (PMID:19027225)
- The results show that Bcr-Abl regulates the actin cytoskeleton and non-apoptotic membrane blebbing via a GADS/Slp-76/Nck1 adaptor protein pathway. (PMID:20079431)
- Histidine domain-protein tyrosine phosphatase interacts with Grb2 and GrpL (PMID:21179510)
- GADS mediates lymphoid disease downstream of BCR-ABL through the recruitment of specific signaling intermediates. (PMID:23399893)
- Gads was dispensable for TCR-induced phosphorylation of SLP-76, but was a dose-dependent amplifier of TCR-induced CD69 expression. (PMID:25452106)
- GADS deficient T cells displayed similar levels of T cell receptor -induced SLP-76 and PLC-gamma1 phosphorylation but exhibited substantial decrease in TCR-induced IL-2 and IFN-gamma release. (PMID:25636200)
- Following phosphorylation of the tyrosine, the proteins growth factor receptor-bound protein 2 (Grb2), Grb2-related adaptor downstream of Shc (Gads), and p85 subunit of phosphoinositide 3-kinase may bind to pYMNM (where pY is phosphotyrosine) via their Src homology 2 (SH2) domains, leading to downstream signaling to distinct immune pathways. These three adaptor proteins bind to the same site on CD28 with variable affinity (PMID:27927989)
- These data are consistent with a model in which bivalent recruitment of a GADS/SLP-76 complex is required for costimulation by CD6. (PMID:28289074)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | grap2a | ENSDARG00000006468 |
| danio_rerio | grap2b | ENSDARG00000101169 |
| mus_musculus | Grap2 | ENSMUSG00000042351 |
| rattus_norvegicus | Grap2 | ENSRNOG00000018316 |
| drosophila_melanogaster | dock | FBGN0010583 |
| caenorhabditis_elegans | WBGENE00006410 |
Paralogs (9): DAPP1 (ENSG00000070190), NCK2 (ENSG00000071051), SLA2 (ENSG00000101082), GRAP (ENSG00000154016), SLA (ENSG00000155926), NCK1 (ENSG00000158092), GRB2 (ENSG00000177885), GRAPL (ENSG00000189152), SH2D5 (ENSG00000189410)
Protein
Protein identifiers
GRB2-related adapter protein 2 — O75791 (reviewed: O75791)
Alternative names: Adapter protein GRID, GRB-2-like protein, GRBLG, GRBX, Grf40 adapter protein, Growth factor receptor-binding protein, Hematopoietic cell-associated adapter protein GrpL, P38, Protein GADS, SH3-SH2-SH3 adapter Mona
All UniProt accessions (3): O75791, B1AH86, Q6FI14
UniProt curated annotations — full annotation on UniProt →
Function. Interacts with SLP-76 to regulate NF-AT activation. Binds to tyrosine-phosphorylated shc.
Subunit / interactions. Interacts with phosphorylated LIME1 upon TCR activation. Interacts with phosphorylated LAT and LAX1 upon TCR activation. Interacts with SHB. Interacts with PTPN23.
Subcellular location. Nucleus. Cytoplasm. Endosome.
Similarity. Belongs to the GRB2/sem-5/DRK family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75791-1 | 1 | yes |
| O75791-2 | 2 |
RefSeq proteins (5): NP_001278753, NP_001278754, NP_001278755, NP_001278757, NP_004801* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000980 | SH2 | Domain |
| IPR001452 | SH3_domain | Domain |
| IPR035646 | GRAP2_C_SH3 | Domain |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
| IPR036860 | SH2_dom_sf | Homologous_superfamily |
| IPR043539 | Grb2-like | Family |
Pfam: PF00017, PF00018
UniProt features (24 total): strand 7, modified residue 5, domain 3, splice variant 2, helix 2, compositionally biased region 2, chain 1, sequence variant 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5GJH | X-RAY DIFFRACTION | 1.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75791-F1 | 70.78 | 0.31 |
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 (5): 236, 262, 45, 106, 187
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-1433557 | Signaling by SCF-KIT |
| R-HSA-202433 | Generation of second messenger molecules |
| R-HSA-2424491 | DAP12 signaling |
| R-HSA-2871796 | FCERI mediated MAPK activation |
| R-HSA-2871809 | FCERI mediated Ca+2 mobilization |
| R-HSA-389356 | Co-stimulation by CD28 |
| R-HSA-9607240 | FLT3 Signaling |
| R-HSA-9680350 | Signaling by CSF1 (M-CSF) in myeloid cells |
MSigDB gene sets: 190 (showing top):
MODULE_92, REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, REACTOME_CO_STIMULATION_BY_CD28, GOBP_CELL_CELL_SIGNALING, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, AML_Q6, HUI_MAPK14_TARGETS_UP, GOBP_RAS_PROTEIN_SIGNAL_TRANSDUCTION, REACTOME_TCR_SIGNALING, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, MODULE_46, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, FOXO4_02
GO Biological Process (4): signal transduction (GO:0007165), Ras protein signal transduction (GO:0007265), cell-cell signaling (GO:0007267), regulation of MAPK cascade (GO:0043408)
GO Molecular Function (2): phosphotyrosine residue binding (GO:0001784), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), endosome (GO:0005768), cytosol (GO:0005829), plasma membrane (GO:0005886)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Fc epsilon receptor (FCERI) signaling | 2 |
| Cytokine Signaling in Immune system | 2 |
| Signaling by Receptor Tyrosine Kinases | 1 |
| TCR signaling | 1 |
| DAP12 interactions | 1 |
| Regulation of T cell activation by CD28 family | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cell communication | 2 |
| signaling | 2 |
| cellular process | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| small GTPase-mediated signal transduction | 1 |
| MAPK cascade | 1 |
| regulation of intracellular signal transduction | 1 |
| protein phosphorylated amino acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1566 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GRAP2 | LCP2 | Q13094 | 999 |
| GRAP2 | PLCG1 | P19174 | 996 |
| GRAP2 | VAV1 | P15498 | 984 |
| GRAP2 | GRB2 | P29354 | 983 |
| GRAP2 | LAT | O43561 | 980 |
| GRAP2 | NCK1 | P16333 | 963 |
| GRAP2 | SHC1 | P29353 | 959 |
| GRAP2 | ITK | Q08881 | 949 |
| GRAP2 | FYB1 | O15117 | 929 |
| GRAP2 | ZAP70 | P43403 | 926 |
| GRAP2 | SOS1 | Q07889 | 921 |
| GRAP2 | CCNDBP1 | O95273 | 914 |
| GRAP2 | CALML6 | Q8TD86 | 896 |
| GRAP2 | CALML3 | P27482 | 896 |
| GRAP2 | CALML4 | Q96GE6 | 896 |
| GRAP2 | CALML5 | Q9NZT1 | 896 |
IntAct
210 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LCP2 | GRAP2 | psi-mi:“MI:0915”(physical association) | 0.980 |
| GRAP2 | LCP2 | psi-mi:“MI:0915”(physical association) | 0.980 |
| LCP2 | GRAP2 | psi-mi:“MI:2364”(proximity) | 0.980 |
BioGRID (199): GRAP2 (Two-hybrid), SPRY2 (Two-hybrid), GRAP2 (Two-hybrid), GAB2 (Affinity Capture-MS), CDC27 (Affinity Capture-MS), STAMBP (Affinity Capture-MS), TNIP1 (Affinity Capture-MS), ZSCAN21 (Affinity Capture-MS), USP8 (Affinity Capture-MS), ANAPC5 (Affinity Capture-MS), PTPN23 (Affinity Capture-MS), ITCH (Affinity Capture-MS), GAB1 (Affinity Capture-MS), GAREM (Affinity Capture-MS), TRIM68 (Affinity Capture-MS)
ESM2 similar proteins: B2RZ59, F1LYQ8, F1P065, F8VPU2, O14796, O35324, O60880, O75791, O88890, O88900, O89100, O94887, P0CE43, P46108, P46109, P47941, P52735, P59622, P87378, P97369, Q03160, Q04929, Q06AA1, Q13239, Q13322, Q14449, Q15080, Q1RMW5, Q2I6J1, Q3ZBB1, Q45HK4, Q5ICW4, Q5RAB8, Q5U2U2, Q60760, Q60898, Q60992, Q63768, Q64010, Q6P4S2
Diamond homologs: A0JNJ1, A1CEK6, A1DFN5, A2QW93, A4RF61, A6QLK6, A7A261, F1LRS8, O35179, O35964, O43307, O74749, O75791, O75886, O88811, O89100, O93436, P02549, P07751, P09215, P09216, P10830, P13395, P16054, P16086, P16546, P23298, P24723, P28867, P29355, P32793, P34885, P38753, P43603, P53281, P62993, P62994, P70297, P87379, P97306
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MAP4K1 | “down-regulates activity” | GRAP2 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 73 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 |
|---|---|---|---|
| Constitutive Signaling by Aberrant PI3K in Cancer | 5 | 12.7× | 4e-03 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 5 | 9.7× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| epidermal growth factor receptor signaling pathway | 6 | 23.2× | 1e-04 |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 7 | 8.6× | 2e-03 |
| negative regulation of apoptotic process | 10 | 5.4× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 2 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1412 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:39969531:GGG:G | donor_gain | 1.0000 |
| 22:39969531:GGGGT:G | donor_loss | 1.0000 |
| 22:39969532:GGG:G | donor_gain | 1.0000 |
| 22:39969534:G:GA | donor_loss | 1.0000 |
| 22:39969535:T:A | donor_loss | 1.0000 |
| 22:39970903:A:AG | acceptor_gain | 1.0000 |
| 22:39970904:G:GG | acceptor_gain | 1.0000 |
| 22:39970904:GC:G | acceptor_gain | 1.0000 |
| 22:39970904:GCGA:G | acceptor_gain | 1.0000 |
| 22:39955911:G:GG | donor_gain | 0.9900 |
| 22:39960049:CCACA:C | acceptor_loss | 0.9900 |
| 22:39960050:CACA:C | acceptor_loss | 0.9900 |
| 22:39960051:ACAG:A | acceptor_loss | 0.9900 |
| 22:39960052:CA:C | acceptor_loss | 0.9900 |
| 22:39960053:A:AG | acceptor_gain | 0.9900 |
| 22:39960053:A:AT | acceptor_loss | 0.9900 |
| 22:39960053:AGAT:A | acceptor_gain | 0.9900 |
| 22:39960054:G:GA | acceptor_loss | 0.9900 |
| 22:39960054:G:GG | acceptor_gain | 0.9900 |
| 22:39960054:GATG:G | acceptor_gain | 0.9900 |
| 22:39960171:TCAGG:T | donor_loss | 0.9900 |
| 22:39960172:CAGG:C | donor_loss | 0.9900 |
| 22:39960173:AG:A | donor_loss | 0.9900 |
| 22:39960174:GGTA:G | donor_loss | 0.9900 |
| 22:39960175:GTACT:G | donor_loss | 0.9900 |
| 22:39960176:T:A | donor_loss | 0.9900 |
| 22:39965980:T:TA | acceptor_gain | 0.9900 |
| 22:39965984:CTCCA:C | acceptor_loss | 0.9900 |
| 22:39965985:TCCA:T | acceptor_loss | 0.9900 |
| 22:39965986:CCA:C | acceptor_loss | 0.9900 |
AlphaMissense
2188 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:39966004:T:A | V102D | 1.000 |
| 22:39966082:T:C | L128P | 1.000 |
| 22:39947131:T:C | F9L | 0.999 |
| 22:39947133:C:A | F9L | 0.999 |
| 22:39947133:C:G | F9L | 0.999 |
| 22:39955840:T:A | W34R | 0.999 |
| 22:39955840:T:C | W34R | 0.999 |
| 22:39955849:G:C | A37P | 0.999 |
| 22:39955877:T:A | V46E | 0.999 |
| 22:39960056:T:A | W58R | 0.999 |
| 22:39960056:T:C | W58R | 0.999 |
| 22:39960086:G:C | A68P | 0.999 |
| 22:39960132:G:C | R83P | 0.999 |
| 22:39960165:T:A | I94N | 0.999 |
| 22:39960167:T:C | S95P | 0.999 |
| 22:39960168:C:A | S95Y | 0.999 |
| 22:39960168:C:T | S95F | 0.999 |
| 22:39960171:T:A | V96D | 0.999 |
| 22:39966010:A:G | H104R | 0.999 |
| 22:39966011:C:A | H104Q | 0.999 |
| 22:39966011:C:G | H104Q | 0.999 |
| 22:39966012:T:C | F105L | 0.999 |
| 22:39966013:T:C | F105S | 0.999 |
| 22:39966014:C:A | F105L | 0.999 |
| 22:39966014:C:G | F105L | 0.999 |
| 22:39966019:T:A | V107D | 0.999 |
| 22:39966051:T:A | W118R | 0.999 |
| 22:39966051:T:C | W118R | 0.999 |
| 22:39971013:T:A | W308R | 0.999 |
| 22:39971013:T:C | W308R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000001181 (22:39939046 C>A), RS1000121576 (22:39910083 G>C), RS1000177726 (22:39950346 T>C), RS1000228368 (22:39902929 A>G,T), RS1000235966 (22:39947663 A>T), RS1000238583 (22:39965578 A>G), RS1000293494 (22:39896115 A>T), RS1000317165 (22:39915717 G>A,T), RS1000324088 (22:39896507 G>A), RS1000387023 (22:39940896 G>A,C), RS1000411707 (22:39962084 A>G), RS1000459386 (22:39906783 G>A,T), RS1000477695 (22:39953431 A>G), RS1000521111 (22:39948860 T>A), RS1000552458 (22:39906570 A>G)
Disease associations
OMIM: gene MIM:604518 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005752_107 | Systemic lupus erythematosus | 5.000000e-08 |
| GCST005951_24 | Body mass index | 2.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| lasiocarpine | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects cotreatment, decreases expression, affects response to substance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Demecolcine | decreases expression | 1 |
| Dexamethasone | increases expression | 1 |
| Diuron | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression, affects cotreatment | 1 |
| Methapyrilene | increases methylation | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Triclosan | decreases expression | 1 |
| Vincristine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Asbestos, Crocidolite | affects expression | 1 |
| Particulate Matter | increases expression, increases abundance | 1 |
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.