ABI3
gene geneOn this page
Also known as NESHSSH3BP3
Summary
ABI3 (ABI family member 3, HGNC:29859) is a protein-coding gene on chromosome 17q21.32, encoding ABI gene family member 3 (Q9P2A4). May inhibit tumor metastasis.
This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 51225 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 80 total — 2 pathogenic
- MANE Select transcript:
NM_016428
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29859 |
| Approved symbol | ABI3 |
| Name | ABI family member 3 |
| Location | 17q21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NESH, SSH3BP3 |
| Ensembl gene | ENSG00000108798 |
| Ensembl biotype | protein_coding |
| OMIM | 606363 |
| Entrez | 51225 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 12 protein_coding
ENST00000225941, ENST00000419580, ENST00000571035, ENST00000573347, ENST00000881777, ENST00000881778, ENST00000881779, ENST00000881780, ENST00000881781, ENST00000881782, ENST00000881783, ENST00000881784
RefSeq mRNA: 2 — MANE Select: NM_016428
NM_001135186, NM_016428
CCDS: CCDS11546, CCDS45725
Canonical transcript exons
ENST00000225941 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000736259 | 49220169 | 49220326 |
| ENSE00000819755 | 49216531 | 49216698 |
| ENSE00000819757 | 49217739 | 49217915 |
| ENSE00000819759 | 49219858 | 49219953 |
| ENSE00000819762 | 49222091 | 49222225 |
| ENSE00000819763 | 49222552 | 49223225 |
| ENSE00001045567 | 49219540 | 49219625 |
| ENSE00001287516 | 49210707 | 49210841 |
Expression profiles
Bgee: expression breadth ubiquitous, 189 present calls, max score 97.61.
FANTOM5 (CAGE): breadth broad, TPM avg 7.5270 / max 307.2303, expressed in 766 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 161522 | 5.1878 | 546 |
| 161518 | 1.1911 | 458 |
| 161526 | 0.5205 | 168 |
| 161520 | 0.3073 | 154 |
| 161519 | 0.1613 | 87 |
| 161521 | 0.1590 | 75 |
Top tissues by expression
232 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 97.61 | gold quality |
| spleen | UBERON:0002106 | 94.70 | gold quality |
| leukocyte | CL:0000738 | 94.24 | gold quality |
| monocyte | CL:0000576 | 94.06 | gold quality |
| pancreatic ductal cell | CL:0002079 | 89.66 | silver quality |
| blood | UBERON:0000178 | 89.57 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.38 | gold quality |
| vermiform appendix | UBERON:0001154 | 87.97 | gold quality |
| parotid gland | UBERON:0001831 | 87.32 | silver quality |
| apex of heart | UBERON:0002098 | 86.94 | gold quality |
| lymph node | UBERON:0000029 | 86.55 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 85.02 | gold quality |
| caecum | UBERON:0001153 | 84.67 | gold quality |
| upper lobe of lung | UBERON:0008948 | 83.86 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 83.67 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 83.33 | gold quality |
| ileal mucosa | UBERON:0000331 | 83.13 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 83.12 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 82.78 | gold quality |
| right lung | UBERON:0002167 | 82.04 | gold quality |
| small intestine | UBERON:0002108 | 82.00 | gold quality |
| upper arm skin | UBERON:0004263 | 80.98 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 80.98 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 80.62 | gold quality |
| omental fat pad | UBERON:0010414 | 80.08 | gold quality |
| peritoneum | UBERON:0002358 | 80.05 | gold quality |
| spinal cord | UBERON:0002240 | 79.94 | gold quality |
| heart left ventricle | UBERON:0002084 | 79.73 | gold quality |
| cardiac ventricle | UBERON:0002082 | 79.58 | gold quality |
| left uterine tube | UBERON:0001303 | 79.55 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-11 | yes | 40.12 |
| E-CURD-112 | yes | 19.61 |
| E-CURD-122 | yes | 13.34 |
| E-MTAB-8410 | yes | 9.49 |
| E-ANND-3 | yes | 8.12 |
| E-MTAB-7381 | no | 960.69 |
| E-MTAB-6505 | no | 659.59 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HOXA1, NFYB
miRNA regulators (miRDB)
30 targeting ABI3, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-1207-3P | 98.99 | 66.22 | 1532 |
| HSA-MIR-6829-5P | 98.86 | 65.12 | 1480 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-6852-3P | 98.54 | 67.60 | 1468 |
| HSA-MIR-1470 | 98.11 | 63.53 | 399 |
| HSA-MIR-615-5P | 98.10 | 63.76 | 591 |
| HSA-MIR-647 | 97.73 | 67.79 | 927 |
| HSA-MIR-4741 | 97.69 | 64.14 | 883 |
| HSA-MIR-4675 | 97.69 | 64.82 | 774 |
| HSA-MIR-4690-3P | 97.02 | 64.72 | 981 |
| HSA-MIR-5685 | 97.02 | 64.34 | 1004 |
| HSA-MIR-4296 | 96.35 | 63.55 | 1233 |
| HSA-MIR-365A-5P | 94.91 | 63.72 | 471 |
| HSA-MIR-365B-5P | 94.91 | 63.79 | 470 |
Literature-anchored findings (GeneRIF, showing 12)
- Forced expression of NESH suppresses motility and metastatic dissemination of malignant cells. (PMID:11956071)
- NESH (Abi-3), like Abi-1 and Abi-2, is a component of the Abi/WAVE complex, but likely plays a different role in the regulation of c-Abl. (PMID:17101133)
- Result links ABI3 to the pathogenesis and progression of some cancers and suggests that ABI3 or its pathway might have interest as therapeutic target. (PMID:21223585)
- Low ABI3 expression is associated with thyroid carcinomas. (PMID:27036019)
- Data show that protein-altering changes are in PLCG2, ABI3, and TREM2 genes highly expressed in microglia and highlight an immune-related protein-protein interaction network in Alzheimer’s disease. (PMID:28714976)
- suggest distinct effects of the microglial genes, ABI3 and PLCG2 in neurodegenerative diseases that harbor significant vs. low/no amyloid ss pathology (PMID:30326945)
- Study shows that rare coding variants in TREM2, PLCG2, and ABI3 modulate susceptibility to Alzheimer disease in populations from Argentina, and they may have a European heritage. (PMID:30705288)
- Common Variants in ABI3 Influence Cerebrospinal Fluid Total Tau Levels and Cognitive Decline in Progressive Mild Cognitive Impairment Patients. (PMID:31127786)
- Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes. (PMID:32894242)
- Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy. (PMID:33092647)
- ABI3 Is a Novel Early Biomarker of Alzheimer’s Disease. (PMID:35275543)
- Identification and Quantitation of Novel ABI3 Isoforms Relative to Alzheimer’s Disease Genetics and Neuropathology. (PMID:36140776)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | abi3b | ENSDARG00000063283 |
| mus_musculus | Abi3 | ENSMUSG00000018381 |
| rattus_norvegicus | Abi3 | ENSRNOG00000005575 |
| drosophila_melanogaster | Abi | FBGN0020510 |
| caenorhabditis_elegans | WBGENE00015146 |
Paralogs (2): ABI1 (ENSG00000136754), ABI2 (ENSG00000138443)
Protein
Protein identifiers
ABI gene family member 3 — Q9P2A4 (reviewed: Q9P2A4)
Alternative names: New molecule including SH3
All UniProt accessions (3): Q9P2A4, I3L1X2, I3L3W4
UniProt curated annotations — full annotation on UniProt →
Function. May inhibit tumor metastasis. In vitro, reduces cell motility.
Subunit / interactions. May interact with PAK1 and PAK2. Probably interacts with TARSH.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in heart, lung, liver, pancreas, kidney, placenta and at low levels in brain and skeletal muscle.
Similarity. Belongs to the ABI family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9P2A4-1 | 1 | yes |
| Q9P2A4-2 | 2 |
RefSeq proteins (2): NP_001128658, NP_057512* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001452 | SH3_domain | Domain |
| IPR012849 | Abl-interactor_HHR_dom | Domain |
| IPR028455 | ABI3_SH3 | Domain |
| IPR028457 | ABI | Family |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
Pfam: PF07815, PF14604
UniProt features (13 total): sequence variant 3, modified residue 3, region of interest 2, chain 1, domain 1, coiled-coil region 1, compositionally biased region 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P2A4-F1 | 75.31 | 0.46 |
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 (3): 213, 216, 342
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 266 (showing top):
GOBP_DENDRITE_DEVELOPMENT, CREL_01, AP1_01, MODULE_255, GOBP_SYNAPSE_ASSEMBLY, GOBP_DENDRITIC_SPINE_DEVELOPMENT, MODULE_317, GOBP_REGULATION_OF_RUFFLE_ASSEMBLY, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_CELLULAR_SENESCENCE, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03, GOBP_REGULATION_OF_LAMELLIPODIUM_ASSEMBLY, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY
GO Biological Process (12): neuron migration (GO:0001764), defense response to tumor cell (GO:0002357), negative regulation of lamellipodium assembly (GO:0010593), actin cytoskeleton organization (GO:0030036), regulation of cell migration (GO:0030334), cell projection morphogenesis (GO:0048858), regulation of dendritic spine morphogenesis (GO:0061001), modification of postsynaptic actin cytoskeleton (GO:0098885), regulation of postsynaptic density assembly (GO:0099151), negative regulation of ruffle assembly (GO:1900028), negative regulation of protein localization to plasma membrane (GO:1903077), positive regulation of cellular senescence (GO:2000774)
GO Molecular Function (4): signaling adaptor activity (GO:0035591), identical protein binding (GO:0042802), actin filament binding (GO:0051015), protein binding (GO:0005515)
GO Cellular Component (10): cytoplasm (GO:0005737), postsynaptic density (GO:0014069), membrane (GO:0016020), lamellipodium (GO:0030027), SCAR complex (GO:0031209), dendritic spine (GO:0043197), dendritic shaft (GO:0043198), actin-based cell projection (GO:0098858), glutamatergic synapse (GO:0098978), postsynapse (GO:0098794)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cell migration | 2 |
| negative regulation of plasma membrane bounded cell projection assembly | 2 |
| plasma membrane bounded cell projection | 2 |
| dendrite | 2 |
| synapse | 2 |
| generation of neurons | 1 |
| response to tumor cell | 1 |
| defense response | 1 |
| regulation of lamellipodium assembly | 1 |
| lamellipodium assembly | 1 |
| negative regulation of lamellipodium organization | 1 |
| cytoskeleton organization | 1 |
| actin filament-based process | 1 |
| regulation of cell motility | 1 |
| cell morphogenesis | 1 |
| anatomical structure morphogenesis | 1 |
| cell projection organization | 1 |
| regulation of neuron projection development | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| dendritic spine morphogenesis | 1 |
| regulation of postsynapse organization | 1 |
| modification of postsynaptic structure | 1 |
| postsynaptic density assembly | 1 |
| regulation of postsynaptic specialization assembly | 1 |
| regulation of excitatory synapse assembly | 1 |
| regulation of postsynaptic density organization | 1 |
| ruffle assembly | 1 |
| regulation of ruffle assembly | 1 |
| protein localization to plasma membrane | 1 |
| regulation of protein localization to plasma membrane | 1 |
| negative regulation of protein localization to cell periphery | 1 |
| negative regulation of protein localization to membrane | 1 |
| positive regulation of cellular process | 1 |
| cellular senescence | 1 |
| regulation of cellular senescence | 1 |
| protein-macromolecule adaptor activity | 1 |
| protein binding | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
Protein interactions and networks
STRING
1326 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ABI3 | ABI3BP | Q7Z7G0 | 998 |
| ABI3 | CYFIP1 | Q7L576 | 963 |
| ABI3 | NCKAP1 | Q9Y2A7 | 944 |
| ABI3 | NCKAP1L | P55160 | 895 |
| ABI3 | BRK1 | Q8WUW1 | 858 |
| ABI3 | WASF3 | Q9UPY6 | 804 |
| ABI3 | WASF1 | Q92558 | 787 |
| ABI3 | WASF2 | Q9Y6W5 | 774 |
| ABI3 | CYFIP2 | Q96F07 | 702 |
| ABI3 | ADGRL1 | O94910 | 663 |
| ABI3 | EPS8 | Q12929 | 661 |
| ABI3 | KIAA0408 | Q6ZU52 | 651 |
| ABI3 | PLCG2 | P16885 | 645 |
| ABI3 | TREM2 | Q9NZC2 | 634 |
| ABI3 | TYROBP | O43914 | 586 |
IntAct
271 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ABI3 | NUP58 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CEP44 | ABI3 | psi-mi:“MI:0915”(physical association) | 0.780 |
| NUP58 | ABI3 | psi-mi:“MI:0915”(physical association) | 0.780 |
| HOMER3 | ABI3 | psi-mi:“MI:0915”(physical association) | 0.780 |
| ABI3 | EIF3H | psi-mi:“MI:0915”(physical association) | 0.760 |
| HOMER1 | ABI3 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ABI3 | NCK2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ABI3 | VASP | psi-mi:“MI:0915”(physical association) | 0.720 |
| KANK2 | ABI3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| NCK2 | ABI3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| VASP | ABI3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ABI3 | KANK2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| WAS | ABI3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ABI3 | EVL | psi-mi:“MI:0915”(physical association) | 0.670 |
| ABI3 | WAS | psi-mi:“MI:0915”(physical association) | 0.670 |
| EVL | ABI3 | psi-mi:“MI:0915”(physical association) | 0.670 |
BioGRID (102): ABI3 (Two-hybrid), ABI3 (Two-hybrid), ABI3 (Two-hybrid), ABI3 (Two-hybrid), ABI3 (Two-hybrid), ABI3 (Two-hybrid), ABI3 (Two-hybrid), ABI3 (Two-hybrid), ABI3 (Two-hybrid), ABI3 (Two-hybrid), ABI3 (Two-hybrid), ABI3 (Two-hybrid), ABI3 (Two-hybrid), ABI3 (Two-hybrid), ABI3 (Two-hybrid)
ESM2 similar proteins: A0A2K3E7S8, A8B1U4, A8I4E9, A8ICS9, A8ID74, A8IF44, A8IGK2, A8IH47, A8INQ0, A8ITV9, A8IUG5, A8J0N6, A8J1V4, A8JAF2, A8JAN3, A8JBB2, A8JID5, A8Q1F0, B0WTU5, B5BUZ8, D4P3R7, F5A894, P0C7L7, P0DL09, P46870, P53787, Q2QPW2, Q2XQY7, Q4PDA7, Q53JI9, Q5Z6N9, Q688R3, Q69T21, Q6R2V6, Q6RCE1, Q750K9, Q751Z6, Q752S4, Q756C3, Q759H4
Diamond homologs: A0A0K3AV08, A1DFN5, A4RF61, A5D7F8, A5D8S5, A7A261, B1V8A0, F1LRS8, G5EC32, O00160, O35179, O35180, O35413, O35964, O42287, O43586, O55043, O77506, O93436, O94868, O94875, P10569, P10686, P29355, P38753, P39743, P43603, P49710, P62484, P70248, P97369, Q01406, Q09746, Q09822, Q14155, Q14247, Q14847, Q15052, Q15811, Q28E95
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| WWP2 | “down-regulates quantity by destabilization” | ABI3 | polyubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 67 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 |
|---|---|---|---|
| Formation of the cornified envelope | 8 | 15.3× | 2e-05 |
| Keratinization | 8 | 9.7× | 3e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| morphogenesis of an epithelium | 8 | 46.6× | 1e-09 |
| intermediate filament organization | 9 | 36.7× | 9e-10 |
| epithelial cell differentiation | 7 | 20.8× | 6e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
80 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 65 |
| Likely benign | 3 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 154833 | GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1 | Pathogenic |
| 59588 | GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1 | Pathogenic |
SpliceAI
1389 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:49217737:AGAT:A | acceptor_gain | 1.0000 |
| 17:49217738:GATG:G | acceptor_gain | 1.0000 |
| 17:49217912:CAAGG:C | donor_loss | 1.0000 |
| 17:49217914:AGG:A | donor_loss | 1.0000 |
| 17:49217915:GGT:G | donor_loss | 1.0000 |
| 17:49217917:T:G | donor_loss | 1.0000 |
| 17:49220332:G:GT | donor_gain | 1.0000 |
| 17:49222088:A:AG | acceptor_gain | 1.0000 |
| 17:49222089:A:AG | acceptor_gain | 1.0000 |
| 17:49222090:G:GG | acceptor_gain | 1.0000 |
| 17:49222197:C:G | donor_gain | 1.0000 |
| 17:49222548:GCA:G | acceptor_loss | 1.0000 |
| 17:49222549:CA:C | acceptor_loss | 1.0000 |
| 17:49222550:A:AG | acceptor_gain | 1.0000 |
| 17:49222550:A:AT | acceptor_loss | 1.0000 |
| 17:49222550:AGT:A | acceptor_gain | 1.0000 |
| 17:49222550:AGTG:A | acceptor_gain | 1.0000 |
| 17:49222551:G:GA | acceptor_gain | 1.0000 |
| 17:49222551:GT:G | acceptor_gain | 1.0000 |
| 17:49222551:GTG:G | acceptor_gain | 1.0000 |
| 17:49222551:GTGG:G | acceptor_gain | 1.0000 |
| 17:49222551:GTGGT:G | acceptor_gain | 1.0000 |
| 17:49210839:CAGG:C | donor_loss | 0.9900 |
| 17:49210841:GGTA:G | donor_loss | 0.9900 |
| 17:49210842:G:GA | donor_loss | 0.9900 |
| 17:49216679:GT:G | donor_gain | 0.9900 |
| 17:49217734:TGCA:T | acceptor_loss | 0.9900 |
| 17:49217735:GCA:G | acceptor_loss | 0.9900 |
| 17:49217736:CA:C | acceptor_loss | 0.9900 |
| 17:49217737:A:AG | acceptor_gain | 0.9900 |
AlphaMissense
2324 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:49210812:G:C | A30P | 0.997 |
| 17:49222684:T:C | F357S | 0.996 |
| 17:49216582:G:C | A57P | 0.994 |
| 17:49216586:T:C | L58P | 0.994 |
| 17:49216616:T:C | L68P | 0.994 |
| 17:49222618:T:A | I335N | 0.994 |
| 17:49222656:G:C | G348R | 0.994 |
| 17:49216591:A:C | S60R | 0.993 |
| 17:49216593:C:A | S60R | 0.993 |
| 17:49216593:C:G | S60R | 0.993 |
| 17:49210813:C:A | A30D | 0.992 |
| 17:49210823:C:G | C33W | 0.992 |
| 17:49216619:C:A | A69D | 0.992 |
| 17:49222600:T:C | F329S | 0.992 |
| 17:49222647:T:A | W345R | 0.992 |
| 17:49222647:T:C | W345R | 0.992 |
| 17:49210801:T:C | L26P | 0.991 |
| 17:49216597:G:C | A62P | 0.991 |
| 17:49216598:C:A | A62D | 0.991 |
| 17:49216618:G:C | A69P | 0.991 |
| 17:49217902:G:A | G150D | 0.991 |
| 17:49222649:G:C | W345C | 0.991 |
| 17:49222649:G:T | W345C | 0.991 |
| 17:49222678:G:A | G355E | 0.991 |
| 17:49210822:G:A | C33Y | 0.990 |
| 17:49216588:G:C | A59P | 0.990 |
| 17:49216589:C:A | A59D | 0.990 |
| 17:49222569:T:G | Y319D | 0.990 |
| 17:49217770:G:C | R106P | 0.989 |
| 17:49222624:T:A | V337D | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000077593 (17:49211711 C>A), RS1000349320 (17:49221035 TGGTGGTGC>T), RS1000464309 (17:49213464 C>T), RS1000830663 (17:49219565 C>T), RS1001094594 (17:49219815 C>A,G), RS1001278347 (17:49220417 C>A,T), RS1001395315 (17:49208863 C>T), RS1001468883 (17:49214974 T>C), RS1001472008 (17:49217094 C>T), RS1001609271 (17:49211141 G>A), RS1001620648 (17:49211409 G>T), RS1001952509 (17:49212551 G>A), RS1001962423 (17:49212720 G>A,C), RS1001963819 (17:49217378 G>A), RS1002305988 (17:49209110 ACCTTG>A)
Disease associations
OMIM: gene MIM:606363 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001942_17 | Prostate cancer | 2.000000e-09 |
| GCST005549_8 | Alzheimer’s disease (late onset) | 5.000000e-10 |
| GCST007320_7 | Alzheimer’s disease or family history of Alzheimer’s disease | 2.000000e-08 |
| GCST007321_14 | Family history of Alzheimer’s disease | 7.000000e-06 |
| GCST008916_126 | Asthma | 2.000000e-15 |
| GCST010002_125 | Refractive error | 1.000000e-44 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:1001870 | late-onset Alzheimers disease |
| EFO:0009268 | family history of Alzheimer’s disease |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases methylation, increases mutagenesis | 3 |
| cobaltous chloride | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| bis(tri-n-butyltin)oxide | decreases expression | 1 |
| zinc chromate | increases abundance, decreases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| methylmercury II | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Cisplatin | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Lipopolysaccharides | increases expression, affects cotreatment, decreases expression, affects response to substance | 1 |
| Nickel | decreases expression | 1 |
| Rifampin | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 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.