RAP1GAP2
gene geneOn this page
Also known as KIAA1039
Summary
RAP1GAP2 (RAP1 GTPase activating protein 2, HGNC:29176) is a protein-coding gene on chromosome 17p13.3, encoding Rap1 GTPase-activating protein 2 (Q684P5). GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state.
This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 23108 — RefSeq curated summary.
At a glance
- GWAS associations: 26
- Clinical variants (ClinVar): 121 total — 2 pathogenic
- MANE Select transcript:
NM_015085
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29176 |
| Approved symbol | RAP1GAP2 |
| Name | RAP1 GTPase activating protein 2 |
| Location | 17p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1039 |
| Ensembl gene | ENSG00000132359 |
| Ensembl biotype | protein_coding |
| OMIM | 618714 |
| Entrez | 23108 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 7 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000254695, ENST00000366401, ENST00000540393, ENST00000571555, ENST00000574515, ENST00000574709, ENST00000575979, ENST00000637138, ENST00000697391, ENST00000697392, ENST00000905763
RefSeq mRNA: 5 — MANE Select: NM_015085
NM_001100398, NM_001330058, NM_001411048, NM_001411049, NM_015085
CCDS: CCDS45573, CCDS45574, CCDS82035, CCDS92223, CCDS92224
Canonical transcript exons
ENST00000254695 — 25 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000430869 | 3008011 | 3008145 |
| ENSE00000668753 | 3005369 | 3005440 |
| ENSE00001116175 | 3030922 | 3030998 |
| ENSE00001116182 | 3026008 | 3026121 |
| ENSE00001116183 | 3026944 | 3027070 |
| ENSE00001116184 | 3026350 | 3026464 |
| ENSE00001292032 | 2991297 | 2991397 |
| ENSE00001400229 | 2981195 | 2981248 |
| ENSE00001403726 | 2980287 | 2980365 |
| ENSE00001404136 | 2905284 | 2905368 |
| ENSE00001407242 | 2957759 | 2957794 |
| ENSE00001418108 | 2965540 | 2965643 |
| ENSE00001422981 | 2963856 | 2964068 |
| ENSE00001426303 | 2984983 | 2985066 |
| ENSE00001427626 | 2963430 | 2963462 |
| ENSE00001431800 | 2962670 | 2962714 |
| ENSE00001613212 | 3032411 | 3032449 |
| ENSE00002634319 | 2796438 | 2796571 |
| ENSE00003552310 | 2998221 | 2998376 |
| ENSE00003559717 | 3018061 | 3018198 |
| ENSE00003565722 | 3020477 | 3020595 |
| ENSE00003602318 | 2800515 | 2800550 |
| ENSE00003664553 | 3005955 | 3006041 |
| ENSE00003679172 | 2995337 | 2995466 |
| ENSE00003850158 | 3033392 | 3037741 |
Expression profiles
Bgee: expression breadth ubiquitous, 252 present calls, max score 97.33.
FANTOM5 (CAGE): breadth broad, TPM avg 5.3941 / max 535.4932, expressed in 518 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 158858 | 4.4929 | 373 |
| 158857 | 0.3151 | 109 |
| 158852 | 0.3085 | 144 |
| 158855 | 0.1328 | 60 |
| 158856 | 0.0613 | 38 |
| 208029 | 0.0527 | 26 |
| 158854 | 0.0172 | 8 |
| 158853 | 0.0136 | 4 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 23 | UBERON:0013554 | 97.33 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 95.38 | silver quality |
| endothelial cell | CL:0000115 | 95.24 | silver quality |
| superior frontal gyrus | UBERON:0002661 | 94.73 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.70 | gold quality |
| cerebellum | UBERON:0002037 | 94.54 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.52 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.50 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.43 | gold quality |
| postcentral gyrus | UBERON:0002581 | 94.26 | gold quality |
| cerebellar vermis | UBERON:0004720 | 94.01 | gold quality |
| entorhinal cortex | UBERON:0002728 | 93.92 | gold quality |
| type B pancreatic cell | CL:0000169 | 93.86 | silver quality |
| granulocyte | CL:0000094 | 93.76 | gold quality |
| primary visual cortex | UBERON:0002436 | 93.66 | gold quality |
| parietal lobe | UBERON:0001872 | 93.61 | gold quality |
| occipital lobe | UBERON:0002021 | 92.76 | gold quality |
| blood | UBERON:0000178 | 92.29 | gold quality |
| frontal cortex | UBERON:0001870 | 92.20 | gold quality |
| pancreas | UBERON:0001264 | 92.19 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.04 | gold quality |
| pancreatic ductal cell | CL:0002079 | 91.83 | silver quality |
| body of pancreas | UBERON:0001150 | 91.72 | gold quality |
| body of stomach | UBERON:0001161 | 91.53 | gold quality |
| neocortex | UBERON:0001950 | 91.53 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 91.46 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 91.41 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.21 | gold quality |
| cingulate cortex | UBERON:0003027 | 90.88 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 90.80 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 61.14 |
| E-ANND-3 | yes | 6.14 |
| E-MTAB-8060 | no | 65.70 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
187 targeting RAP1GAP2, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
Literature-anchored findings (GeneRIF, showing 3)
- Rap1GAP2 is the first GTPase-activating protein of Rap1 found in platelets and is likely to have an important regulatory role in platelet aggregation (PMID:15632203)
- Platelet activation by ADP and thrombin enhances serine 9 phosphorylation and increases 14-3-3 binding to endogenous Rap1GAP2. (PMID:18039662)
- Slp1 inhibits dense granule secretion in platelets and that Rap1GAP2 modulates secretion by binding to Slp1. (PMID:19528539)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rap1gap2a | ENSDARG00000061551 |
| danio_rerio | rap1gap2b | ENSDARG00000074222 |
| danio_rerio | rap1gapl | ENSDARG00000091573 |
| mus_musculus | Rap1gap2 | ENSMUSG00000038807 |
| rattus_norvegicus | Rap1gap2 | ENSRNOG00000002652 |
| drosophila_melanogaster | RapGAP1 | FBGN0264895 |
| caenorhabditis_elegans | WBGENE00018734 |
Paralogs (6): RAP1GAP (ENSG00000076864), SIPA1L3 (ENSG00000105738), SIPA1L2 (ENSG00000116991), GARNL3 (ENSG00000136895), SIPA1L1 (ENSG00000197555), SIPA1 (ENSG00000213445)
Protein
Protein identifiers
Rap1 GTPase-activating protein 2 — Q684P5 (reviewed: Q684P5)
Alternative names: GTPase-activating Rap/Ran-GAP domain-like protein 4
All UniProt accessions (4): Q684P5, A0A1B0GV05, A0A8V8TKZ8, A0A8V8TL16
UniProt curated annotations — full annotation on UniProt →
Function. GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state.
Subcellular location. Cytoplasm. Perinuclear region.
Tissue specificity. Isoform 1 and isoform 2 are expressed in platelets with isoform 2 being the predominant form. Expressed in lymphocytes, heart, testis and pancreas.
Post-translational modifications. In vitro phosphorylated by cGMP-dependent protein kinase 1 (cGKI) at Ser-7; the phosphorylation probably does not regulate GAP activity.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q684P5-1 | 1, Rap1GAP2b | yes |
| Q684P5-2 | 2, Rap1GAP2a | |
| Q684P5-3 | 3, Rap1GAP2c |
RefSeq proteins (5): NP_001093868, NP_001316987, NP_001397977, NP_001397978, NP_055900* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000331 | Rap/Ran_GAP_dom | Domain |
| IPR035974 | Rap/Ran-GAP_sf | Homologous_superfamily |
| IPR050989 | Rap1_Ran_GAP | Family |
Pfam: PF02145, PF21022
UniProt features (28 total): modified residue 9, compositionally biased region 6, region of interest 3, sequence conflict 3, splice variant 2, mutagenesis site 2, chain 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q684P5-F1 | 66.02 | 0.38 |
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 (9): 7, 45, 49, 507, 544, 558, 564, 612, 613
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 7 | abolishes phosphorylation by pkg/prkg1. |
| 357 | abolishes gap activity. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-392517 | Rap1 signalling |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 288 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_DN, AP1_01, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, CHUNG_BLISTER_CYTOTOXICITY_DN, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, TGACCTY_ERR1_Q2, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, GOCC_CENTROSOME, GOBP_REGULATION_OF_CELL_SIZE, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GOBP_ADAPTIVE_IMMUNE_RESPONSE, KIM_GERMINAL_CENTER_T_HELPER_DN, GOCC_NEURON_PROJECTION
GO Biological Process (3): adaptive immune response (GO:0002250), regulation of cell size (GO:0008361), regulation of small GTPase mediated signal transduction (GO:0051056)
GO Molecular Function (2): GTPase activator activity (GO:0005096), protein binding (GO:0005515)
GO Cellular Component (9): cytoplasm (GO:0005737), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), plasma membrane (GO:0005886), nuclear membrane (GO:0031965), perinuclear theca (GO:0033011), sperm principal piece (GO:0097228), perinuclear region of cytoplasm (GO:0048471)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
| Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| microtubule organizing center | 2 |
| cytoplasm | 2 |
| immune response | 1 |
| regulation of cellular component size | 1 |
| small GTPase-mediated signal transduction | 1 |
| regulation of intracellular signal transduction | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
| cytoskeleton | 1 |
| perinuclear region of cytoplasm | 1 |
| sperm flagellum | 1 |
Protein interactions and networks
STRING
658 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RAP1GAP2 | RNF6 | Q9Y252 | 411 |
| RAP1GAP2 | RASGRP2 | Q7LDG7 | 401 |
| RAP1GAP2 | RASA3 | Q14644 | 377 |
| RAP1GAP2 | RYK | P34925 | 372 |
| RAP1GAP2 | RAP1B | P09526 | 345 |
| RAP1GAP2 | BEX5 | Q5H9J7 | 336 |
| RAP1GAP2 | SBK1 | Q52WX2 | 310 |
| RAP1GAP2 | PLPP2 | O43688 | 306 |
| RAP1GAP2 | ZNF251 | Q9BRH9 | 297 |
| RAP1GAP2 | DIRAS2 | Q96HU8 | 296 |
| RAP1GAP2 | ANKRD18B | A2A2Z9 | 295 |
| RAP1GAP2 | RAP1A | P10113 | 295 |
| RAP1GAP2 | RAPGEF1 | Q13905 | 294 |
| RAP1GAP2 | RAP1GDS1 | P52306 | 290 |
| RAP1GAP2 | LRPAP1 | P30533 | 289 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RAP1GAP2 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAP1GAP | RAP1GAP2 | psi-mi:“MI:0915”(physical association) | 0.500 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| RAP1GAP | VPS26A | psi-mi:“MI:0914”(association) | 0.350 |
| PIP4K2A | SAP18 | psi-mi:“MI:0914”(association) | 0.350 |
| RAP1GAP2 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RAP1GAP2 | YWHAE | psi-mi:“MI:0915”(physical association) | 0.000 |
| WNK1 | RAP1GAP2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| VPS26C | RAP1GAP2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (34): RAP1GAP2 (Affinity Capture-MS), RAP1GAP2 (Affinity Capture-RNA), RAP1GAP2 (Two-hybrid), RAP1GAP2 (Affinity Capture-MS), RAP1GAP2 (Affinity Capture-MS), RAP1GAP2 (Affinity Capture-RNA), RAP1GAP2 (Two-hybrid), RAP1GAP2 (Affinity Capture-MS), RAP1GAP2 (Affinity Capture-RNA), RAP1GAP2 (Proximity Label-MS), RAP1GAP2 (Proximity Label-MS), RAP1GAP2 (Proximity Label-MS), RAP1GAP2 (Proximity Label-MS), RAP1GAP2 (Proximity Label-MS), RAP1GAP2 (Proximity Label-MS)
ESM2 similar proteins: A1Z7A6, A2ALS5, A5PF44, A7KAX9, A8E7C5, A8JQ65, B3LXF2, B3NYS4, B4I4Y1, B4JHJ7, B4K6T8, B4PRE2, B4R0A5, G3X9J0, G5EFI8, O35412, O35711, O43166, O60292, P43125, P47736, Q14693, Q22744, Q2NKQ1, Q2PE14, Q3V0G7, Q4P3S3, Q5JCS6, Q5SVL6, Q5VVW2, Q5ZJY3, Q5ZMV8, Q684P5, Q80TE4, Q811P8, Q8BPQ7, Q8C0T5, Q8C8U0, Q8CDA1, Q91ZP3
Diamond homologs: A2ALS5, A5PF44, G3X9J0, O35412, O43166, O60292, P46062, P47736, P49815, P49816, Q3V0G7, Q54EH3, Q55AN8, Q5JCS6, Q5SVL6, Q5VVW2, Q5ZJY3, Q5ZMV8, Q61037, Q684P5, Q75J96, Q80TE4, Q8C0T5, Q96FS4, Q9P2F8, Q2PPJ7, Q9UUG9, A3KGS3, P86411, Q6GYQ0, Q8BUL6, Q9HB21, Q54TK4, Q9VB98, O55007, Q6GYP7, Q54SS8, P86409
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
121 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 77 |
| Likely benign | 6 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 815888 | GRCh37/hg19 17p13.3(chr17:2325226-2808483)x1 | Pathogenic |
| 815889 | GRCh37/hg19 17p13.3(chr17:2416838-2784745)x1 | Pathogenic |
SpliceAI
6346 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:2796539:G:GT | donor_gain | 1.0000 |
| 17:2800546:GTCAA:G | donor_gain | 1.0000 |
| 17:2800551:G:GG | donor_gain | 1.0000 |
| 17:2905365:GAAG:G | donor_gain | 1.0000 |
| 17:2905367:AGGT:A | donor_loss | 1.0000 |
| 17:2905368:GGT:G | donor_loss | 1.0000 |
| 17:2905370:T:G | donor_loss | 1.0000 |
| 17:2963463:GTAG:G | donor_loss | 1.0000 |
| 17:2964066:AAG:A | donor_loss | 1.0000 |
| 17:2964067:AGGT:A | donor_loss | 1.0000 |
| 17:2964069:G:GA | donor_loss | 1.0000 |
| 17:2964070:T:A | donor_loss | 1.0000 |
| 17:2980275:C:CA | acceptor_gain | 1.0000 |
| 17:2980283:GCA:G | acceptor_loss | 1.0000 |
| 17:2980284:CAGGT:C | acceptor_loss | 1.0000 |
| 17:2980285:A:AC | acceptor_loss | 1.0000 |
| 17:2980285:A:AG | acceptor_gain | 1.0000 |
| 17:2980286:G:GG | acceptor_gain | 1.0000 |
| 17:2980286:GGTCC:G | acceptor_gain | 1.0000 |
| 17:2981247:AGGTA:A | donor_loss | 1.0000 |
| 17:2981248:GGTAA:G | donor_loss | 1.0000 |
| 17:2981249:GTA:G | donor_loss | 1.0000 |
| 17:2981250:T:A | donor_loss | 1.0000 |
| 17:2991291:TTTCA:T | acceptor_loss | 1.0000 |
| 17:2991292:TTCAG:T | acceptor_loss | 1.0000 |
| 17:2991293:TCAG:T | acceptor_loss | 1.0000 |
| 17:2991294:CAG:C | acceptor_loss | 1.0000 |
| 17:2991295:A:AG | acceptor_gain | 1.0000 |
| 17:2991295:A:C | acceptor_loss | 1.0000 |
| 17:2991296:G:GA | acceptor_gain | 1.0000 |
AlphaMissense
4834 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:2964058:T:C | F161S | 1.000 |
| 17:2965643:G:C | R199T | 1.000 |
| 17:2965643:G:T | R199M | 1.000 |
| 17:2985034:A:G | K261E | 1.000 |
| 17:2985035:A:T | K261I | 1.000 |
| 17:2985036:A:C | K261N | 1.000 |
| 17:2985036:A:T | K261N | 1.000 |
| 17:2985041:G:A | G263E | 1.000 |
| 17:2985044:T:A | V264D | 1.000 |
| 17:2991366:G:T | G295W | 1.000 |
| 17:2991367:G:A | G295E | 1.000 |
| 17:2991390:T:C | F303L | 1.000 |
| 17:2991392:C:A | F303L | 1.000 |
| 17:2991392:C:G | F303L | 1.000 |
| 17:2995338:T:C | F306L | 1.000 |
| 17:2995340:C:A | F306L | 1.000 |
| 17:2995340:C:G | F306L | 1.000 |
| 17:2995345:G:A | G308E | 1.000 |
| 17:2995351:T:A | L310Q | 1.000 |
| 17:2995351:T:C | L310P | 1.000 |
| 17:2995374:G:T | G318W | 1.000 |
| 17:2995375:G:A | G318E | 1.000 |
| 17:2995383:T:C | S321P | 1.000 |
| 17:2995420:T:C | F333S | 1.000 |
| 17:2995422:C:G | H334D | 1.000 |
| 17:2995426:T:A | V335D | 1.000 |
| 17:2995438:T:C | L339P | 1.000 |
| 17:2998228:G:C | R351T | 1.000 |
| 17:2998229:A:C | R351S | 1.000 |
| 17:2998229:A:T | R351S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000004387 (17:2875712 G>A), RS1000012902 (17:2966091 A>T), RS1000042148 (17:2920369 G>A), RS1000046494 (17:3023108 T>A), RS1000047982 (17:2805061 T>C), RS1000067986 (17:2813302 C>T), RS1000084790 (17:2850031 C>A,T), RS1000092474 (17:2769675 G>T), RS1000093430 (17:2845638 G>A), RS1000102497 (17:3013731 C>T), RS1000112352 (17:2916607 G>A,T), RS1000124841 (17:2773747 A>G), RS1000127574 (17:2784653 C>G,T), RS1000128566 (17:3016933 G>A), RS1000144219 (17:2784102 A>G)
Disease associations
OMIM: gene MIM:618714 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
26 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001099_10 | Sudden cardiac arrest | 3.000000e-06 |
| GCST002279_97 | PR interval in Tripanosoma cruzi seropositivity | 6.000000e-07 |
| GCST002445_6 | Asthma (sex interaction) | 3.000000e-07 |
| GCST002740_26 | Inflammatory skin disease | 9.000000e-06 |
| GCST003995_24 | Tonsillectomy | 2.000000e-09 |
| GCST004627_164 | Lymphocyte count | 2.000000e-17 |
| GCST004627_165 | Lymphocyte count | 8.000000e-14 |
| GCST005014_191 | Tonsillectomy | 2.000000e-09 |
| GCST008758_71 | Pre-treatment viral load in HIV-1 infection | 6.000000e-17 |
| GCST009313_2 | Prepulse inhibition of the startle response | 8.000000e-07 |
| GCST012020_158 | Serum metabolite levels | 7.000000e-11 |
| GCST012021_83 | Serum metabolite levels | 7.000000e-11 |
| GCST012490_481 | Femur bone mineral density x serum urate levels interaction | 1.000000e-09 |
| GCST90002379_180 | Basophil count | 8.000000e-10 |
| GCST90002381_103 | Eosinophil count | 5.000000e-09 |
| GCST90002381_104 | Eosinophil count | 1.000000e-10 |
| GCST90002388_479 | Lymphocyte count | 3.000000e-31 |
| GCST90002388_480 | Lymphocyte count | 2.000000e-10 |
| GCST90002388_481 | Lymphocyte count | 6.000000e-24 |
| GCST90002389_216 | Lymphocyte percentage of white cells | 7.000000e-15 |
| GCST90002389_217 | Lymphocyte percentage of white cells | 2.000000e-10 |
| GCST90002393_508 | Monocyte count | 4.000000e-11 |
| GCST90002399_277 | Neutrophil percentage of white cells | 7.000000e-11 |
| GCST90002399_278 | Neutrophil percentage of white cells | 2.000000e-12 |
| GCST90002407_567 | White blood cell count | 2.000000e-10 |
| GCST90002407_568 | White blood cell count | 6.000000e-12 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004278 | sudden cardiac arrest |
| EFO:0004462 | PR interval |
| EFO:0008343 | sex interaction measurement |
| EFO:0007924 | tonsillectomy risk measurement |
| EFO:0004587 | lymphocyte count |
| EFO:0010125 | viral load |
| EFO:0007969 | cognitive inhibition measurement |
| EFO:0004531 | urate measurement |
| EFO:0005090 | basophil count |
| EFO:0004842 | eosinophil count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0005091 | monocyte count |
| EFO:0007990 | neutrophil percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, affects methylation, decreases expression | 3 |
| Arsenic | affects methylation, increases abundance, increases expression, affects cotreatment | 3 |
| Benzo(a)pyrene | affects methylation, increases mutagenesis | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Cisplatin | affects cotreatment, decreases expression | 2 |
| Particulate Matter | affects cotreatment, increases abundance, increases expression, increases methylation | 2 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| benzo(e)pyrene | decreases methylation, increases methylation | 1 |
| N-acetyl-4-benzoquinoneimine | affects response to substance | 1 |
| aflatoxin B2 | affects methylation | 1 |
| coumarin | increases phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Caffeine | increases phosphorylation | 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.