RAB37
gene geneOn this page
Summary
RAB37 (RAB37, member RAS oncogene family, HGNC:30268) is a protein-coding gene on chromosome 17q25.1, encoding Ras-related protein Rab-37 (Q96AX2). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.
Rab proteins are low molecular mass GTPases that are critical regulators of vesicle trafficking. For additional background information on Rab proteins, see MIM 179508.
Source: NCBI Gene 326624 — RefSeq curated summary.
At a glance
- GWAS associations: 21
- Clinical variants (ClinVar): 56 total
- MANE Select transcript:
NM_001006638
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30268 |
| Approved symbol | RAB37 |
| Name | RAB37, member RAS oncogene family |
| Location | 17q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000172794 |
| Ensembl biotype | protein_coding |
| OMIM | 609956 |
| Entrez | 326624 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 10 protein_coding, 6 retained_intron, 1 nonsense_mediated_decay
ENST00000340415, ENST00000392610, ENST00000392612, ENST00000392613, ENST00000392614, ENST00000392615, ENST00000392617, ENST00000402449, ENST00000481224, ENST00000488977, ENST00000527040, ENST00000528438, ENST00000531420, ENST00000533530, ENST00000577548, ENST00000613645, ENST00000872455
RefSeq mRNA: 5 — MANE Select: NM_001006638
NM_001006638, NM_001163989, NM_001163990, NM_001330471, NM_175738
CCDS: CCDS11703, CCDS32722, CCDS54162, CCDS82198
Canonical transcript exons
ENST00000392613 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001196836 | 74744873 | 74744929 |
| ENSE00001196840 | 74744308 | 74744373 |
| ENSE00001258832 | 74737256 | 74737365 |
| ENSE00001431713 | 74745306 | 74747335 |
| ENSE00003462631 | 74742254 | 74742295 |
| ENSE00003504490 | 74743288 | 74743340 |
| ENSE00003581199 | 74745008 | 74745084 |
| ENSE00003595334 | 74740768 | 74740878 |
| ENSE00003655108 | 74743129 | 74743195 |
Expression profiles
Bgee: expression breadth ubiquitous, 180 present calls, max score 97.12.
FANTOM5 (CAGE): breadth broad, TPM avg 10.1300 / max 426.2672, expressed in 577 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 162653 | 6.2972 | 430 |
| 162652 | 3.2663 | 378 |
| 162647 | 0.4309 | 71 |
| 162650 | 0.0439 | 10 |
| 162651 | 0.0385 | 6 |
| 162648 | 0.0232 | 5 |
| 162646 | 0.0222 | 9 |
| 162649 | 0.0079 | 4 |
Top tissues by expression
245 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar hemisphere | UBERON:0002245 | 97.12 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.99 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.81 | gold quality |
| granulocyte | CL:0000094 | 96.56 | gold quality |
| cerebellum | UBERON:0002037 | 96.06 | gold quality |
| leukocyte | CL:0000738 | 94.98 | gold quality |
| monocyte | CL:0000576 | 94.85 | gold quality |
| blood | UBERON:0000178 | 93.86 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 89.24 | gold quality |
| spleen | UBERON:0002106 | 86.75 | gold quality |
| bone marrow cell | CL:0002092 | 85.47 | gold quality |
| right lobe of liver | UBERON:0001114 | 85.25 | gold quality |
| endothelial cell | CL:0000115 | 85.23 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 84.84 | gold quality |
| right frontal lobe | UBERON:0002810 | 84.50 | gold quality |
| pancreatic ductal cell | CL:0002079 | 83.96 | silver quality |
| lymph node | UBERON:0000029 | 83.34 | gold quality |
| bone marrow | UBERON:0002371 | 83.10 | gold quality |
| vermiform appendix | UBERON:0001154 | 82.86 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 82.68 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 81.94 | gold quality |
| prefrontal cortex | UBERON:0000451 | 81.92 | gold quality |
| apex of heart | UBERON:0002098 | 81.79 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 81.53 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 81.31 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 81.11 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 80.05 | gold quality |
| primary visual cortex | UBERON:0002436 | 79.79 | gold quality |
| frontal cortex | UBERON:0001870 | 78.62 | gold quality |
| mucosa of stomach | UBERON:0001199 | 78.34 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 9.75 |
| E-ANND-3 | yes | 7.74 |
| E-MTAB-6678 | no | 3.90 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
84 targeting RAB37, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-12129 | 99.72 | 67.45 | 1311 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| 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-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-3618 | 99.69 | 68.57 | 1012 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-488-3P | 99.61 | 68.79 | 1731 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-17-3P | 99.55 | 66.77 | 1311 |
Literature-anchored findings (GeneRIF, showing 12)
- Promoter/exon1 methylation is the predominant mechanism in down-regulation of the hRAB37, and can serve as a potential prediction biomarker of NSCLC progression. (PMID:18687502)
- the TMEM22/RAB37 complex is likely to play a crucial role in growth of renal cell carcinoma (PMID:19148500)
- Rab37 mRNA was specifically expressed in some ESCC cell lines but its genetic polymorphisms were not associated with esophageal squamous cell carcinoma. (PMID:23372429)
- Results identify Rab37 as an additional component of the machinery governing exocytosis of beta-cells and suggest that impaired expression of this GTPase may contribute to defective insulin release in pre-diabetic and diabetic conditions. (PMID:23826383)
- RAB37 regulates the exocytosis of TIMP1 in a nucleotide-dependent manner to inactivate MMP9 migration axis in vitro and in vivo and to suppress tumor metastasis. (PMID:25183545)
- Our findings suggest that Rab37-mediated TSP1 secretion in cancer cells suppresses metastasis and angiogenesis via a cross-talk with endothelial cells and reveal a novel component of the vesicular exocytic machinery in tumor microenvironment and tumor progression (PMID:28151721)
- results demonstrate a role of RAB37 in autophagosome formation through a molecular connection of RAB37, ATG5-12, ATG16L1 up to LC3B, suggesting an organiser role of RAB37 during autophagosomal membrane biogenesis. (PMID:29229996)
- Low RAB37 expression is associated with lung cancer. (PMID:29717487)
- This study shows that RAB37 hypermethylation is involved in NPC metastasis and chemoresistance, and that our prognostic model can identify patients who are at a high risk of distant metastasis and might benefit from for docetaxel IC. (PMID:30131385)
- Rab37-mediated SFRP1 secretion suppresses cancer stemness. (PMID:30158579)
- Findings indicate that patients with low vesicle associated membrane protein 8 (VAMP8)/low rab GTP-binding protein RAB37 (RAB37) expression profile showed significantly high risk of death even after adjusting for tumor metastasis parameter. (PMID:30165196)
- Methionine represses the autophagy of gastric cancer stem cells via promoting the methylation and phosphorylation of RAB37. (PMID:32926650)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rab37 | ENSMUSG00000020732 |
| rattus_norvegicus | Rab37 | ENSRNOG00000059793 |
Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RABL2B (ENSG00000079974), RAB21 (ENSG00000080371), RAB10 (ENSG00000084733), RAB18 (ENSG00000099246), RAB36 (ENSG00000100228), IFT27 (ENSG00000100360), RAB40AL (ENSG00000102128), RAB11A (ENSG00000103769), RAB2A (ENSG00000104388), RAB3D (ENSG00000105514), RAB3A (ENSG00000105649), RAB5C (ENSG00000108774), RAB34 (ENSG00000109113), RAB5B (ENSG00000111540), RAB35 (ENSG00000111737), RAB23 (ENSG00000112210), DNAJC27 (ENSG00000115137), RAB29 (ENSG00000117280), RAB32 (ENSG00000118508), RAB14 (ENSG00000119396), RAB9B (ENSG00000123570), RAB9A (ENSG00000123595), RAB38 (ENSG00000123892), RAB22A (ENSG00000124209), RAB17 (ENSG00000124839), RAB2B (ENSG00000129472), RAB25 (ENSG00000132698), RAB33A (ENSG00000134594), RAB30 (ENSG00000137502), RAB1A (ENSG00000138069), RAB20 (ENSG00000139832), RAB15 (ENSG00000139998), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955)
Protein
Protein identifiers
Ras-related protein Rab-37 — Q96AX2 (reviewed: Q96AX2)
All UniProt accessions (6): A0A9H3ZVF6, A8MSP2, A8MTC6, A8MZI4, B7Z3L0, Q96AX2
UniProt curated annotations — full annotation on UniProt →
Function. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Acts as an organizer for autophagosome biogenesis in a GTP-dependent manner. Involved in retinal homeostasis by autophagy regulation.
Subunit / interactions. Interacts with RIMS1. Interacts (in GDP-bound form) with RPGR, RPGR functions as guanine exchange factor (GEF).
Subcellular location. Cytoplasmic vesicle. Cell projection. Cilium.
Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) including RPGR which promote the exchange of bound GDP for free GTP. Regulated by GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity. Inhibited by GDP dissociation inhibitors (GDIs).
Domain organisation. Switch 1, switch 2 and the interswitch regions are characteristic of Rab GTPases and mediate the interactions with Rab downstream effectors. The switch regions undergo conformational changes upon nucleotide binding which drive interaction with specific sets of effector proteins, with most effectors only binding to GTP-bound Rab.
Similarity. Belongs to the small GTPase superfamily. Rab family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96AX2-1 | 1 | yes |
| Q96AX2-2 | 2 | |
| Q96AX2-3 | 3 | |
| Q96AX2-4 | 4 |
RefSeq proteins (5): NP_001006639, NP_001157461, NP_001157462, NP_001317400, NP_783865 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF00071
Enzyme classification (BRENDA):
- EC 3.6.5.2 — small monomeric GTPase (BRENDA: 49 organisms, 138 substrates, 55 inhibitors, 5 Km, 1 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| GTP | — | 0 |
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (35 total): binding site 19, splice variant 3, modified residue 2, lipid moiety-binding region 2, mutagenesis site 2, short sequence motif 2, initiator methionine 1, chain 1, propeptide 1, region of interest 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96AX2-F1 | 84.42 | 0.57 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (19): 42; 43; 43; 44; 62; 62; 85; 88; 143; 144; 146; 147 …
Post-translational modifications (4): 2, 220, 219, 220
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 43 | stimulates interaction with rpgr. loss of exchange between rab37-gdp to rab37-gtp. |
| 89 | decreased interaction with rpgr. loss of exchange between rab37-gdp to rab37-gtp. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-8873719 | RAB geranylgeranylation |
MSigDB gene sets: 209 (showing top):
GOBP_REGULATION_OF_AUTOPHAGY, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_NEUROGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_EXOCYTOSIS, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EYE_PHOTORECEPTOR_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, GGARNTKYCCA_UNKNOWN
GO Biological Process (4): positive regulation of autophagy (GO:0010508), protein transport (GO:0015031), regulation of exocytosis (GO:0017157), regulation of eye photoreceptor cell development (GO:0042478)
GO Molecular Function (7): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (10): endosome (GO:0005768), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), photoreceptor connecting cilium (GO:0032391), azurophil granule membrane (GO:0035577), specific granule membrane (GO:0035579), cilium (GO:0005929), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| secretory granule membrane | 2 |
| autophagy | 1 |
| positive regulation of catabolic process | 1 |
| regulation of autophagy | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| exocytosis | 1 |
| regulation of vesicle-mediated transport | 1 |
| regulation of secretion by cell | 1 |
| eye photoreceptor cell development | 1 |
| regulation of photoreceptor cell differentiation | 1 |
| regulation of cell development | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| GTPase activity | 1 |
| molecular function regulator activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| cation binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasmic vesicle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| ciliary transition zone | 1 |
| photoreceptor cell cilium | 1 |
| lysosomal membrane | 1 |
| azurophil granule | 1 |
| specific granule | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| intracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
360 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RAB37 | ATG5 | Q9H1Y0 | 596 |
| RAB37 | RAB32 | Q13637 | 443 |
| RAB37 | INS | P01308 | 386 |
| RAB37 | SLC35G2 | Q8TBE7 | 375 |
| RAB37 | UNC13D | Q70J99 | 348 |
| RAB37 | VAMP7 | P51809 | 320 |
| RAB37 | TBC1D14 | Q9P2M4 | 300 |
| RAB37 | PLVAP | Q9BX97 | 286 |
| RAB37 | SYTL4 | Q96C24 | 273 |
| RAB37 | SYTL2 | Q9HCH5 | 270 |
| RAB37 | VAMP3 | Q15836 | 260 |
| RAB37 | VTI1B | Q9UEU0 | 253 |
| RAB37 | RPH3AL | Q9UNE2 | 245 |
| RAB37 | SYCE1L | A8MT33 | 237 |
| RAB37 | GPR142 | Q7Z601 | 235 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RAB37 | MAL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAL2 | RAB37 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAB37 | RABGGTB | psi-mi:“MI:0915”(physical association) | 0.490 |
| RAB37 | H2AC20 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EWSR1 | RAB37 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PB2 | psi-mi:“MI:0914”(association) | 0.350 | |
| RAB37 | ESPN | psi-mi:“MI:0914”(association) | 0.350 |
| ubiF | RAB37 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (12): RAB37 (Two-hybrid), RAB37 (Two-hybrid), RAB37 (Two-hybrid), RAB37 (Affinity Capture-MS), RAB37 (Affinity Capture-MS), RAB37 (Affinity Capture-RNA), ESPN (Affinity Capture-MS), MICAL1 (Affinity Capture-MS), HIST2H2AC (Affinity Capture-MS), RAB37 (Two-hybrid), RAB37 (Protein-RNA), RAB37 (Protein-RNA)
ESM2 similar proteins: A4D1S5, O13876, O80501, P05714, P10948, P10949, P20337, P20338, P34213, P35289, P35293, P35294, P51152, P51159, P56371, P62823, P90726, Q05976, Q0IIG8, Q15771, Q17QB7, Q18969, Q1HE58, Q28IZ3, Q2TBH7, Q32NQ0, Q3ZC27, Q53B90, Q54E92, Q55FK2, Q5EB77, Q5KTJ7, Q5M7U5, Q5R5H5, Q63941, Q68EK7, Q6DHC1, Q6PHI9, Q8CG50, Q923S9
Diamond homologs: A4FV54, C4YL11, F1PTE3, O24466, O42819, O76173, O95716, P01123, P07560, P0CY30, P0CY31, P10536, P10949, P11023, P11620, P16976, P17609, P20336, P20790, P20791, P22125, P22127, P22128, P24409, P25228, P28186, P28188, P31584, P33723, P34139, P34140, P35276, P35280, P35281, P35286, P35289, P36861, P40392, P41924, P51153
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKCA | “down-regulates activity” | RAB37 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2595 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:74695720:CGCA:C | donor_loss | 1.0000 |
| 17:74695743:TTC:T | donor_loss | 1.0000 |
| 17:74695744:T:TA | donor_gain | 1.0000 |
| 17:74695861:T:G | acceptor_loss | 1.0000 |
| 17:74704472:TCTTA:T | donor_loss | 1.0000 |
| 17:74704473:CTTAC:C | donor_loss | 1.0000 |
| 17:74704474:TTA:T | donor_loss | 1.0000 |
| 17:74704475:TACCT:T | donor_loss | 1.0000 |
| 17:74704476:A:C | donor_loss | 1.0000 |
| 17:74704477:C:G | donor_loss | 1.0000 |
| 17:74712819:CTCA:C | donor_loss | 1.0000 |
| 17:74712820:TCA:T | donor_loss | 1.0000 |
| 17:74712821:CAC:C | donor_loss | 1.0000 |
| 17:74712822:ACCTG:A | donor_loss | 1.0000 |
| 17:74712823:C:A | donor_loss | 1.0000 |
| 17:74737057:G:GT | donor_gain | 1.0000 |
| 17:74737058:G:T | donor_gain | 1.0000 |
| 17:74737108:G:T | donor_gain | 1.0000 |
| 17:74740877:GG:G | donor_gain | 1.0000 |
| 17:74740877:GGGT:G | donor_loss | 1.0000 |
| 17:74740878:GG:G | donor_gain | 1.0000 |
| 17:74740878:GGTG:G | donor_loss | 1.0000 |
| 17:74740880:T:G | donor_loss | 1.0000 |
| 17:74742293:CAG:C | donor_loss | 1.0000 |
| 17:74742294:AG:A | donor_loss | 1.0000 |
| 17:74742295:GGTGA:G | donor_loss | 1.0000 |
| 17:74742296:G:A | donor_loss | 1.0000 |
| 17:74743124:CCCAG:C | acceptor_loss | 1.0000 |
| 17:74743125:CCA:C | acceptor_loss | 1.0000 |
| 17:74743126:CAG:C | acceptor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000080033 (17:74745241 G>A,C), RS1000108071 (17:74714710 A>G), RS1000124556 (17:74691526 C>T), RS1000193738 (17:74735877 C>A), RS1000201688 (17:74730115 C>A), RS1000256973 (17:74686658 T>A,C), RS1000301968 (17:74729973 G>A), RS1000379274 (17:74709085 G>A), RS1000403511 (17:74680571 G>A), RS1000410826 (17:74735434 G>C,T), RS1000417750 (17:74703474 C>T), RS1000460909 (17:74692950 G>C), RS1000511810 (17:74747521 G>C,T), RS1000530457 (17:74729151 T>A), RS1000536672 (17:74692010 C>T)
Disease associations
OMIM: gene MIM:609956 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
21 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004122_30 | Fibrinogen levels | 2.000000e-08 |
| GCST004610_84 | White blood cell count | 9.000000e-14 |
| GCST004613_59 | Sum neutrophil eosinophil counts | 3.000000e-09 |
| GCST004614_66 | Granulocyte count | 3.000000e-09 |
| GCST004620_101 | Sum basophil neutrophil counts | 4.000000e-09 |
| GCST004625_248 | Monocyte count | 4.000000e-24 |
| GCST004626_149 | Myeloid white cell count | 2.000000e-11 |
| GCST004629_35 | Neutrophil count | 5.000000e-09 |
| GCST004938_5 | Liver fibrosis in pediatric non-alcoholic fatty acid liver disease | 9.000000e-06 |
| GCST005196_226 | Coronary artery disease | 1.000000e-07 |
| GCST007614_36 | C-reactive protein levels | 4.000000e-14 |
| GCST008478_46 | Neurological blood protein biomarker levels | 1.000000e-21 |
| GCST008478_47 | Neurological blood protein biomarker levels | 5.000000e-12 |
| GCST008478_48 | Neurological blood protein biomarker levels | 3.000000e-77 |
| GCST008478_49 | Neurological blood protein biomarker levels | 2.000000e-11 |
| GCST008478_51 | Neurological blood protein biomarker levels | 5.000000e-15 |
| GCST008478_52 | Neurological blood protein biomarker levels | 1.000000e-16 |
| GCST90002393_611 | Monocyte count | 5.000000e-30 |
| GCST90002400_230 | Plateletcrit | 5.000000e-18 |
| GCST90002402_415 | Platelet count | 7.000000e-17 |
| GCST90002407_146 | White blood cell count | 4.000000e-18 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004833 | neutrophil count |
| EFO:0004842 | eosinophil count |
| EFO:0007987 | granulocyte count |
| EFO:0005090 | basophil count |
| EFO:0005091 | monocyte count |
| EFO:0004458 | C-reactive protein measurement |
| EFO:0007985 | platelet crit |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases methylation, increases expression | 4 |
| Valproic Acid | increases expression, increases methylation, affects expression | 3 |
| entinostat | increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases methylation | 2 |
| GSK-J4 | decreases expression | 1 |
| aminomethylphosphonic acid (AMPA) | decreases expression | 1 |
| terbufos | increases methylation | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | increases methylation | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases reaction, increases expression | 1 |
| perfluorobutanesulfonic acid | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV) | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | decreases reaction, increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Camptothecin | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Cytarabine | decreases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Diuron | decreases expression | 1 |
| Fonofos | increases methylation | 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.