RASGEF1B
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Also known as GPIG4FLJ31695
Summary
RASGEF1B (RasGEF domain family member 1B, HGNC:24881) is a protein-coding gene on chromosome 4q21.21, encoding Ras-GEF domain-containing family member 1B (Q0VAM2). Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, it doesn’t seems to activate other Ras family proteins (in vitro).
Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in Ras protein signal transduction. Predicted to be located in early endosome; late endosome; and midbody. Predicted to be active in plasma membrane.
Source: NCBI Gene 153020 — RefSeq curated summary.
At a glance
- GWAS associations: 28
- Clinical variants (ClinVar): 73 total
- MANE Select transcript:
NM_152545
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24881 |
| Approved symbol | RASGEF1B |
| Name | RasGEF domain family member 1B |
| Location | 4q21.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GPIG4, FLJ31695 |
| Ensembl gene | ENSG00000138670 |
| Ensembl biotype | protein_coding |
| OMIM | 614532 |
| Entrez | 153020 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 12 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000264400, ENST00000335927, ENST00000436139, ENST00000504863, ENST00000507538, ENST00000508294, ENST00000509081, ENST00000510780, ENST00000512343, ENST00000512716, ENST00000514050, ENST00000514889, ENST00000638048, ENST00000900842, ENST00000900843, ENST00000900844, ENST00000939400, ENST00000961893
RefSeq mRNA: 3 — MANE Select: NM_152545
NM_001300735, NM_001300736, NM_152545
CCDS: CCDS34022, CCDS75151, CCDS75152
Canonical transcript exons
ENST00000264400 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000969840 | 81433840 | 81433963 |
| ENSE00000969842 | 81432299 | 81432371 |
| ENSE00001007127 | 81457499 | 81457621 |
| ENSE00001073139 | 81448069 | 81448284 |
| ENSE00001073141 | 81445743 | 81445838 |
| ENSE00001073143 | 81445526 | 81445628 |
| ENSE00001073144 | 81440834 | 81440929 |
| ENSE00001073145 | 81447504 | 81447578 |
| ENSE00001687202 | 81459332 | 81459514 |
| ENSE00001688119 | 81471770 | 81471907 |
| ENSE00002081551 | 81426393 | 81427792 |
| ENSE00002515483 | 81442297 | 81442376 |
| ENSE00002530310 | 81434639 | 81434734 |
| ENSE00003566128 | 81456651 | 81456788 |
Expression profiles
Bgee: expression breadth ubiquitous, 164 present calls, max score 95.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.9426 / max 947.5551, expressed in 1009 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 52794 | 15.0306 | 898 |
| 52793 | 8.9078 | 594 |
| 52792 | 3.0036 | 388 |
| 52822 | 0.5231 | 211 |
| 52821 | 0.2238 | 103 |
| 52825 | 0.0868 | 38 |
| 52820 | 0.0557 | 22 |
| 52826 | 0.0419 | 18 |
| 52824 | 0.0389 | 14 |
| 52827 | 0.0201 | 5 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 95.53 | gold quality |
| right lobe of liver | UBERON:0001114 | 88.76 | gold quality |
| monocyte | CL:0000576 | 88.58 | gold quality |
| bone marrow cell | CL:0002092 | 88.53 | gold quality |
| right lung | UBERON:0002167 | 88.24 | gold quality |
| buccal mucosa cell | CL:0002336 | 87.81 | gold quality |
| leukocyte | CL:0000738 | 87.69 | gold quality |
| skin of abdomen | UBERON:0001416 | 87.44 | gold quality |
| skin of leg | UBERON:0001511 | 86.21 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 86.03 | gold quality |
| gall bladder | UBERON:0002110 | 85.92 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 85.05 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.34 | gold quality |
| cortical plate | UBERON:0005343 | 83.68 | gold quality |
| islet of Langerhans | UBERON:0000006 | 82.69 | gold quality |
| sural nerve | UBERON:0015488 | 82.10 | gold quality |
| calcaneal tendon | UBERON:0003701 | 81.80 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 81.79 | gold quality |
| zone of skin | UBERON:0000014 | 81.78 | gold quality |
| upper lobe of lung | UBERON:0008948 | 81.74 | gold quality |
| vermiform appendix | UBERON:0001154 | 81.35 | gold quality |
| metanephros cortex | UBERON:0010533 | 80.61 | gold quality |
| esophagus mucosa | UBERON:0002469 | 80.46 | gold quality |
| caudate nucleus | UBERON:0001873 | 80.25 | gold quality |
| putamen | UBERON:0001874 | 80.24 | gold quality |
| minor salivary gland | UBERON:0001830 | 79.92 | gold quality |
| omental fat pad | UBERON:0010414 | 79.50 | gold quality |
| peritoneum | UBERON:0002358 | 79.40 | gold quality |
| right uterine tube | UBERON:0001302 | 79.13 | gold quality |
| colonic epithelium | UBERON:0000397 | 79.05 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-2 | yes | 7331.84 |
| E-GEOD-75688 | yes | 1577.26 |
| E-GEOD-75140 | yes | 1287.68 |
| E-CURD-7 | yes | 749.70 |
| E-GEOD-84465 | yes | 35.91 |
| E-ANND-3 | yes | 26.36 |
| E-MTAB-9467 | yes | 18.86 |
| E-GEOD-93593 | yes | 8.60 |
| E-CURD-11 | no | 97.03 |
| E-GEOD-124858 | no | 12.03 |
| E-CURD-112 | no | 2.15 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ARX, E2F1
miRNA regulators (miRDB)
110 targeting RASGEF1B, 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-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
Literature-anchored findings (GeneRIF, showing 4)
- Mutation of the Ser39 in Rap1 changed the specificity and allowed the nucleotide exchange of Rap1(S39F) to be stimulated by RasGEF1B (PMID:19645719)
- As an addition to PRKG2 and RASGEFIB genes, we propose to include BMP3 gene as the principal determinant of the observed common phenotype. (PMID:22303795)
- We show that knockdown of the expression of mcircRasGEF1B reduces LPS-induced ICAM-1 expression. Additionally, we demonstrate that mcircRasGEF1B regulates the stability of mature ICAM-1 mRNAs. (PMID:27362560)
- study provides evidence for two novel candidate genes, SPG7 and RASGEF1B, associating with white coat effect (PMID:31044621)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rasgef1ba | ENSDARG00000033614 |
| danio_rerio | rasgef1bb | ENSDARG00000044251 |
| mus_musculus | Rasgef1b | ENSMUSG00000089809 |
| rattus_norvegicus | Rasgef1b | ENSRNOG00000002345 |
| drosophila_melanogaster | CG4853 | FBGN0034230 |
| drosophila_melanogaster | CG7369 | FBGN0037188 |
| caenorhabditis_elegans | WBGENE00019902 |
Paralogs (24): RASGRF1 (ENSG00000058335), RASGRP2 (ENSG00000068831), RAPGEF3 (ENSG00000079337), RAPGEF4 (ENSG00000091428), SOS2 (ENSG00000100485), RAPGEF1 (ENSG00000107263), RAPGEFL1 (ENSG00000108352), RAPGEF2 (ENSG00000109756), RASGRF2 (ENSG00000113319), SOS1 (ENSG00000115904), RALGPS2 (ENSG00000116191), RAPGEF5 (ENSG00000136237), RALGPS1 (ENSG00000136828), RGL1 (ENSG00000143344), RASGEF1C (ENSG00000146090), RASGRP3 (ENSG00000152689), RAPGEF6 (ENSG00000158987), RGL4 (ENSG00000159496), RALGDS (ENSG00000160271), RASGRP4 (ENSG00000171777), RASGRP1 (ENSG00000172575), RASGEF1A (ENSG00000198915), RGL3 (ENSG00000205517), RGL2 (ENSG00000237441)
Protein
Protein identifiers
Ras-GEF domain-containing family member 1B — Q0VAM2 (reviewed: Q0VAM2)
Alternative names: GPI gamma-4
All UniProt accessions (6): A0A0G2JLL4, A0A1B0GVA7, A0A1B0GW78, D6RE71, Q0VAM2, Q8N437
UniProt curated annotations — full annotation on UniProt →
Function. Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, it doesn’t seems to activate other Ras family proteins (in vitro).
Subunit / interactions. Interacts with Ras family proteins. Interacts with CCDC124 during cytokinesis.
Subcellular location. Early endosome. Late endosome. Midbody.
Induction. Up-regulated in macrophages stimulated with IFNG, GPI-mucins or bacterial lipopolysaccharides (LPS).
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q0VAM2-1 | 1 | yes |
| Q0VAM2-2 | 2 | |
| Q0VAM2-3 | 3 |
RefSeq proteins (3): NP_001287664, NP_001287665, NP_689758* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000651 | Ras-like_Gua-exchang_fac_N | Domain |
| IPR001895 | RASGEF_cat_dom | Domain |
| IPR008937 | Ras-like_GEF | Family |
| IPR019804 | Ras_G-nucl-exch_fac_CS | Conserved_site |
| IPR023578 | Ras_GEF_dom_sf | Homologous_superfamily |
| IPR036964 | RASGEF_cat_dom_sf | Homologous_superfamily |
Pfam: PF00617, PF00618
UniProt features (5 total): domain 2, splice variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q0VAM2-F1 | 87.31 | 0.72 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 209 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, FREAC2_01, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GCANCTGNY_MYOD_Q6, MEF2_02, FOXO1_01, GOBP_RAS_PROTEIN_SIGNAL_TRANSDUCTION, POU3F2_02, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, MEF2_Q6_01, CTAWWWATA_RSRFC4_Q2, FOXO4_02, chr4q21, MEF2_03, GOMF_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY
GO Biological Process (2): Ras protein signal transduction (GO:0007265), small GTPase-mediated signal transduction (GO:0007264)
GO Molecular Function (2): guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)
GO Cellular Component (5): early endosome (GO:0005769), late endosome (GO:0005770), plasma membrane (GO:0005886), midbody (GO:0030496), endosome (GO:0005768)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| endosome | 2 |
| small GTPase-mediated signal transduction | 1 |
| intracellular signaling cassette | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
Protein interactions and networks
STRING
752 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RASGEF1B | PRKG2 | Q13237 | 918 |
| RASGEF1B | ICAM1 | P05362 | 532 |
| RASGEF1B | ENOPH1 | Q9UHY7 | 505 |
| RASGEF1B | HAUS8 | Q9BT25 | 441 |
| RASGEF1B | LINGO1 | Q96FE5 | 436 |
| RASGEF1B | SLC26A3 | P40879 | 432 |
| RASGEF1B | UNC5D | Q6UXZ4 | 411 |
| RASGEF1B | ARHGAP12 | Q8IWW6 | 389 |
| RASGEF1B | GDF10 | P55107 | 377 |
| RASGEF1B | GDF3 | Q9NR23 | 367 |
| RASGEF1B | WSCD1 | Q658N2 | 363 |
| RASGEF1B | ZC3H4 | Q9UPT8 | 362 |
| RASGEF1B | CUX2 | O14529 | 357 |
| RASGEF1B | GDF2 | Q9UK05 | 355 |
| RASGEF1B | DLL1 | O00548 | 349 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RASGEF1B | GAPDHS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (13): RASGEF1B (Affinity Capture-MS), COL1A1 (Affinity Capture-MS), GAPDHS (Affinity Capture-MS), RASGEF1B (Affinity Capture-RNA), RASGEF1B (Two-hybrid), TSGA10IP (Two-hybrid), PLEKHF2 (Two-hybrid), PDLIM7 (Two-hybrid), RASGEF1B (Affinity Capture-RNA), GAPDHS (Affinity Capture-MS), COL1A1 (Affinity Capture-MS), RASGEF1B (Positive Genetic), RASGEF1B (Affinity Capture-RNA)
ESM2 similar proteins: A0A0G2JTR4, A0A2R8QFQ6, A0JM95, A4IFE4, A6QNS3, C1C3R6, D3Z649, D4ABL6, E9PV86, F1QH17, G3MWR8, O46404, Q0VAM2, Q12800, Q12979, Q13507, Q28EC1, Q3ULA2, Q3UNW5, Q4V860, Q5R6F2, Q5RB16, Q5RC04, Q5SSL4, Q5VWJ9, Q5ZLX4, Q63789, Q64143, Q6DHR3, Q6NZH6, Q6UVM3, Q6UVM4, Q6ZPR4, Q7RTP6, Q7T2U9, Q7Z6J6, Q8CE50, Q8CJ19, Q8JZL7, Q8N431
Diamond homologs: A0JM95, A4IFE4, F1M386, F1MSG6, F1PBJ0, Q0VAM2, Q28EC1, Q5RC04, Q6DBW1, Q6DHR3, Q8CHG7, Q8IS18, Q8IS19, Q8JZL7, Q8MVR1, Q8N431, Q8N9B8, Q95KH6, Q9D300, Q9Y4G8, O95398, P28818, P83900, Q02342, Q8C0Q9, Q8VCC8, Q8WZA2, Q92565, Q9EQZ6, Q9UHV5, Q9Z1C7, Q9Z1C8, A2AR50, A2CEA7, A7A0P0, B0M0P8, B3LTF3, B5VMS9, C8ZCV7, E9Q9W7
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RASGEF1B | up-regulates | NRAS | binding |
| RASGEF1B | up-regulates | HRAS | binding |
| RASGEF1B | up-regulates | KRAS | binding |
| E2F1 | “up-regulates quantity by expression” | RASGEF1B | “transcriptional regulation” |
| PLPPR1 | “up-regulates activity” | RASGEF1B | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
73 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 56 |
| Likely benign | 4 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1549 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:81432372:C:CC | acceptor_gain | 1.0000 |
| 4:81433834:CCTTA:C | donor_loss | 1.0000 |
| 4:81433835:CTTA:C | donor_loss | 1.0000 |
| 4:81433836:TTA:T | donor_loss | 1.0000 |
| 4:81433837:TACCA:T | donor_loss | 1.0000 |
| 4:81433838:A:AC | donor_gain | 1.0000 |
| 4:81433838:AC:A | donor_gain | 1.0000 |
| 4:81433838:ACC:A | donor_loss | 1.0000 |
| 4:81433838:ACCAT:A | donor_gain | 1.0000 |
| 4:81433839:C:CC | donor_gain | 1.0000 |
| 4:81433839:C:CT | donor_loss | 1.0000 |
| 4:81433839:CC:C | donor_gain | 1.0000 |
| 4:81433839:CCA:C | donor_gain | 1.0000 |
| 4:81433839:CCAT:C | donor_gain | 1.0000 |
| 4:81433839:CCATC:C | donor_gain | 1.0000 |
| 4:81433856:TGG:T | donor_gain | 1.0000 |
| 4:81433959:AATTT:A | acceptor_gain | 1.0000 |
| 4:81433960:ATTT:A | acceptor_gain | 1.0000 |
| 4:81433961:TTT:T | acceptor_gain | 1.0000 |
| 4:81433961:TTTC:T | acceptor_loss | 1.0000 |
| 4:81433962:TT:T | acceptor_gain | 1.0000 |
| 4:81433963:TC:T | acceptor_loss | 1.0000 |
| 4:81433964:C:CA | acceptor_loss | 1.0000 |
| 4:81433964:C:CC | acceptor_gain | 1.0000 |
| 4:81433971:A:AC | acceptor_gain | 1.0000 |
| 4:81433971:A:C | acceptor_gain | 1.0000 |
| 4:81433975:G:C | acceptor_gain | 1.0000 |
| 4:81433975:G:GC | acceptor_gain | 1.0000 |
| 4:81434634:CTCA:C | donor_loss | 1.0000 |
| 4:81434635:TCA:T | donor_loss | 1.0000 |
AlphaMissense
3170 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:81432356:G:A | S447F | 1.000 |
| 4:81434703:T:A | K379I | 1.000 |
| 4:81440892:C:G | R349P | 1.000 |
| 4:81440903:G:C | F345L | 1.000 |
| 4:81440903:G:T | F345L | 1.000 |
| 4:81440905:A:G | F345L | 1.000 |
| 4:81442346:A:G | L320P | 1.000 |
| 4:81442349:C:G | R319P | 1.000 |
| 4:81442355:A:T | V317D | 1.000 |
| 4:81442373:C:T | G311D | 1.000 |
| 4:81442374:C:G | G311R | 1.000 |
| 4:81445531:A:T | I308K | 1.000 |
| 4:81445545:G:C | N303K | 1.000 |
| 4:81445545:G:T | N303K | 1.000 |
| 4:81445551:G:C | N301K | 1.000 |
| 4:81445551:G:T | N301K | 1.000 |
| 4:81445566:A:C | C296W | 1.000 |
| 4:81445759:G:T | A270D | 1.000 |
| 4:81448085:A:G | L213P | 1.000 |
| 4:81456740:A:G | W117R | 1.000 |
| 4:81456740:A:T | W117R | 1.000 |
| 4:81432356:G:T | S447Y | 0.999 |
| 4:81432357:A:G | S447P | 0.999 |
| 4:81432368:A:G | L443P | 0.999 |
| 4:81433948:C:G | A406P | 0.999 |
| 4:81434700:T:A | D380V | 0.999 |
| 4:81434700:T:G | D380A | 0.999 |
| 4:81434701:C:G | D380H | 0.999 |
| 4:81434702:T:A | K379N | 0.999 |
| 4:81434702:T:G | K379N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000035766 (4:81466933 T>C), RS1000037505 (4:81464761 A>G), RS1000052272 (4:81436814 T>C), RS1000055130 (4:81460988 G>C), RS1000071995 (4:81460586 C>G), RS1000131240 (4:81453274 A>G), RS1000215211 (4:81432778 T>C), RS1000229927 (4:81467031 G>A), RS1000307172 (4:81454320 G>T), RS1000344335 (4:81429421 G>C), RS1000352961 (4:81446863 C>T), RS1000443301 (4:81440437 G>A), RS1000490578 (4:81449428 T>A,C), RS1000636689 (4:81466237 TCTTC>T), RS1000646290 (4:81434767 G>A,T)
Disease associations
OMIM: gene MIM:614532 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
28 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000175_43 | Height | 2.000000e-06 |
| GCST001850_15 | Major depressive disorder | 6.000000e-06 |
| GCST002702_49 | Height | 3.000000e-15 |
| GCST005024_68 | Pursuit maintenance gain | 6.000000e-07 |
| GCST006291_54 | Spherical equivalent or myopia (age of diagnosis) | 3.000000e-11 |
| GCST006427_39 | Depression in smokers | 7.000000e-06 |
| GCST006431_1 | Plasma parathyroid hormone levels | 1.000000e-08 |
| GCST006817_4 | Response to antidepressants in depression | 2.000000e-06 |
| GCST007637_42 | Diffusing capacity of carbon monoxide | 6.000000e-06 |
| GCST008151_106 | Waist circumference | 2.000000e-06 |
| GCST008158_110 | Body mass index | 2.000000e-06 |
| GCST008160_108 | Waist circumference | 2.000000e-06 |
| GCST008399_19 | Cocaine dependence | 2.000000e-06 |
| GCST008839_421 | Height | 3.000000e-38 |
| GCST008969_5 | White coat effect (clinic diastolic blood pressure minus ambulatory diastolic blood pressure) | 5.000000e-06 |
| GCST010002_9 | Refractive error | 2.000000e-65 |
| GCST010397_30 | Gut microbiota (bacterial taxa, rank normal transformation method) | 2.000000e-06 |
| GCST010479_68 | Coronary artery disease | 4.000000e-08 |
| GCST010866_22 | Coronary artery disease | 2.000000e-13 |
| GCST011365_61 | Myocardial infarction | 5.000000e-11 |
| GCST012226_221 | Waist circumference adjusted for body mass index | 6.000000e-11 |
| GCST012226_223 | Waist circumference adjusted for body mass index | 6.000000e-10 |
| GCST012227_1287 | Hip circumference adjusted for BMI | 3.000000e-12 |
| GCST012227_1288 | Hip circumference adjusted for BMI | 4.000000e-10 |
| GCST012400_41 | Low myopia vs hyperopia | 6.000000e-09 |
| GCST90000015_4 | Parkinson’s disease motor subtype (tremor to postural instability/gait difficulty score ratio) | 1.000000e-06 |
| GCST90020028_1941 | Hip circumference adjusted for BMI | 1.000000e-13 |
| GCST90020028_1943 | Hip circumference adjusted for BMI | 9.000000e-13 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008433 | pursuit maintenance gain measurement |
| EFO:0004847 | age at onset |
| EFO:0009369 | diffusing capacity of the lung for carbon monoxide |
| EFO:0004340 | body mass index |
| EFO:0006945 | diastolic blood pressure change measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0600011 | Parkinson’s disease symptom measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 2 |
| Estradiol | decreases expression | 2 |
| GSK-J4 | increases expression | 1 |
| kojic acid | decreases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| lei gong teng | increases expression | 1 |
| epigallocatechin gallate | increases expression | 1 |
| pentanal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Air Pollutants, Occupational | increases expression | 1 |
| Arbutin | decreases expression | 1 |
| Arsenic | increases methylation | 1 |
| Cadmium | increases expression | 1 |
| Diquat | increases expression | 1 |
| Endosulfan | decreases expression, decreases reaction | 1 |
| Lipopolysaccharides | increases expression, affects response to substance | 1 |
| Nickel | increases expression | 1 |
| Phthalic Acids | affects methylation | 1 |
| Tetrachlorodibenzodioxin | decreases expression, decreases reaction | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Urethane | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cocaine dependence