RASD1

Summary

RASD1 (ras related dexamethasone induced 1, HGNC:15828) is a protein-coding gene on chromosome 17p11.2, encoding Dexamethasone-induced Ras-related protein 1 (Q9Y272). Small GTPase.

This gene encodes a member of the Ras superfamily of small GTPases and is induced by dexamethasone. The encoded protein is an activator of G-protein signaling and acts as a direct nucleotide exchange factor for Gi-Go proteins. This protein interacts with the neuronal nitric oxide adaptor protein CAPON, and a nuclear adaptor protein FE65, which interacts with the Alzheimer’s disease amyloid precursor protein. This gene may play a role in dexamethasone-induced alterations in cell morphology, growth and cell-extracellular matrix interactions. Epigenetic inactivation of this gene is closely correlated with resistance to dexamethasone in multiple myeloma cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 51655 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_016084

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15828
Approved symbol	RASD1
Name	ras related dexamethasone induced 1
Location	17p11.2
Locus type	gene with protein product
Status	Approved
Aliases	DEXRAS1, AGS1
Ensembl gene	ENSG00000108551
Ensembl biotype	protein_coding
OMIM	605550
Entrez	51655

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000225688, ENST00000579152, ENST00000962192

RefSeq mRNA: 2 — MANE Select: NM_016084 NM_001199989, NM_016084

CCDS: CCDS11185, CCDS58519

Canonical transcript exons

ENST00000225688 — 2 exons

Exon	Start	End
ENSE00000589957	17494437	17495684
ENSE00002690291	17495896	17496395

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 99.26.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.8257 / max 1912.9061, expressed in 1364 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164765	51.7145	1364
164764	0.1112	50

Top tissues by expression

259 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pericardium	UBERON:0002407	99.26	gold quality
renal medulla	UBERON:0000362	99.15	gold quality
kidney epithelium	UBERON:0004819	99.01	gold quality
adenohypophysis	UBERON:0002196	98.99	gold quality
middle temporal gyrus	UBERON:0002771	98.87	gold quality
pituitary gland	UBERON:0000007	98.38	gold quality
pancreatic ductal cell	CL:0002079	97.80	silver quality
trachea	UBERON:0003126	97.78	gold quality
parotid gland	UBERON:0001831	97.67	gold quality
omental fat pad	UBERON:0010414	97.36	gold quality
peritoneum	UBERON:0002358	97.33	gold quality
adipose tissue of abdominal region	UBERON:0007808	97.25	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.36	gold quality
right lobe of thyroid gland	UBERON:0001119	96.34	gold quality
cardiac muscle of right atrium	UBERON:0003379	96.34	silver quality
tibialis anterior	UBERON:0001385	96.31	silver quality
subcutaneous adipose tissue	UBERON:0002190	95.98	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.92	gold quality
adipose tissue	UBERON:0001013	95.91	gold quality
primary visual cortex	UBERON:0002436	95.86	gold quality
right frontal lobe	UBERON:0002810	95.79	gold quality
medial globus pallidus	UBERON:0002477	95.48	gold quality
occipital lobe	UBERON:0002021	95.38	gold quality
superior frontal gyrus	UBERON:0002661	95.36	gold quality
saliva-secreting gland	UBERON:0001044	95.30	gold quality
vena cava	UBERON:0004087	95.09	gold quality
globus pallidus	UBERON:0001875	95.08	gold quality
anterior cingulate cortex	UBERON:0009835	95.07	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.95	gold quality
minor salivary gland	UBERON:0001830	94.94	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	43.36
E-MTAB-10287	yes	43.36
E-GEOD-135922	yes	21.99
E-GEOD-125970	yes	20.54
E-MTAB-5061	yes	17.14
E-MTAB-9067	yes	15.11
E-CURD-122	yes	13.50
E-MTAB-6678	yes	8.84
E-HCAD-10	yes	7.11
E-HCAD-31	no	1223.19
E-ENAD-27	no	3.20
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR3C1, STAT5B

miRNA regulators (miRDB)

53 targeting RASD1, 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-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-8485	100.00	77.57	4731
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349

Literature-anchored findings (GeneRIF, showing 19)

• A glucocorticoid response element (GRE) was identified in the 3’-flanking region (2.3 kb downstream of poly(A) signal) of the human Dexras1 gene. A point mutation within the 15-bp GRE abolished this glucocorticoid responsiveness (PMID:12818426)
• plays an active role in preventing aberrant cell growth (PMID:15184869)
• yeast two hybrid analysis and co-immunoprecipitation studies in mammalian cells demonstrate a direct interaction between AGS1 and the G(beta1) subunit of heterotrimeric G proteins (PMID:16225846)
• does not alter the membrane translocation of protein kinase C delta. (PMID:16489124)
• Dexras1 plays a critical role in shaping the photic phase response curve (PRC) and the signaling events through which it regulates clock entrainment in transgenic mice. (PMID:17167088)
• dex-ras1 mRNA is not induced by glucocorticoid stimulation in HEK293 cells (PMID:17985234)
• Dexras1 functions as a suppressor of FE65-APP-mediated transcription, and FE65 tyrosine 547 phosphorylation enhances FE65-APP-mediated transcription, at least in part, by modulating the interaction between FE65 and Dexras1 (PMID:18922798)
• Epigenetic inactivation of genes, including RASD1, plays a key role in the development of dexamethasone resistance in multiple myeloma. (PMID:19549772)
• Rasd1 modulates endogenous renin gene expression by interacting with Ear2. (PMID:21247419)
• Study showed that Rasd1 and NonO interact at the CRE-site of specific target genes. (PMID:21915321)
• Loss of RASD1 is associated with prostate cancer. (PMID:24761910)
• Studies indicate potential roles for Rasd1 small G protein and leptin in TRPC4 cation channel activation. (PMID:26083271)
• Data indicate that protein kinase A (PKA) phosphorylates only serine-253 amino acid on activator of G-protein signaling 1 protein Dexras1 (RASD1). (PMID:26358293)
• These findings suggest that the upregulation of RASD1 in glioma tissues may play an inhibitory role in tumor expansion, possibly through inactivating the AKT/mTOR signaling pathway. (PMID:28600528)
• Via a feedback loop involving miR-375, RASD1, and ERalpha. (PMID:29722068)
• High RASD1 expression is associated with B-cell acute lymphoblastic leukemia. (PMID:30925311)
• Hsa-miR-375/RASD1 Signaling May Predict Local Control in Early Breast Cancer. (PMID:33255991)
• Prognostic value of RASD1 transcript levels in adult Philadelphia-negative B-cell acute lymphoblastic leukemia. (PMID:33357137)
• Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia (PMID:36305088)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rasd1	ENSMUSG00000049892
rattus_norvegicus	Rasd1	ENSRNOG00000003348

Paralogs (35): RALA (ENSG00000006451), REM1 (ENSG00000088320), RASL10A (ENSG00000100276), RASD2 (ENSG00000100302), RASL12 (ENSG00000103710), RHEB (ENSG00000106615), RERGL (ENSG00000111404), RAP1A (ENSG00000116473), RASL11A (ENSG00000122035), RAP2C (ENSG00000123728), RAP2A (ENSG00000125249), RRAS (ENSG00000126458), RAP1B (ENSG00000127314), RASL11B (ENSG00000128045), KRAS (ENSG00000133703), RRAS2 (ENSG00000133818), RERG (ENSG00000134533), REM2 (ENSG00000139890), RIT1 (ENSG00000143622), RALB (ENSG00000144118), RIT2 (ENSG00000152214), MRAS (ENSG00000158186), DIRAS3 (ENSG00000162595), GEM (ENSG00000164949), DIRAS2 (ENSG00000165023), RRAD (ENSG00000166592), RHEBL1 (ENSG00000167550), NKIRAS2 (ENSG00000168256), HRAS (ENSG00000174775), DIRAS1 (ENSG00000176490), RAP2B (ENSG00000181467), ERAS (ENSG00000187682), NKIRAS1 (ENSG00000197885), NRAS (ENSG00000213281), RASL10B (ENSG00000270885)

Protein

Protein identifiers

Dexamethasone-induced Ras-related protein 1 — Q9Y272 (reviewed: Q9Y272)

Alternative names: Activator of G-protein signaling 1

All UniProt accessions (1): Q9Y272

UniProt curated annotations — full annotation on UniProt →

Function. Small GTPase. Negatively regulates the transcription regulation activity of the APBB1/FE65-APP complex via its interaction with APBB1/FE65.

Subunit / interactions. Forms a ternary complex with CAPON and NOS1. Component of a complex, at least composed of APBB1, RASD1/DEXRAS1 and APP. Interacts with APBB1/FE65.

Subcellular location. Cell membrane. Cytoplasm. Perinuclear region. Nucleus.

Tissue specificity. Expressed in a variety of tissues including heart, cardiovascular tissues, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, gastrointestinal and reproductive tissues.

Post-translational modifications. S-nitrosylation stimulates guanine-nucleotide exchange activity.

Induction. By dexamethasone.

Similarity. Belongs to the small GTPase superfamily. RasD family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y272-1	1	yes
Q9Y272-2	2

RefSeq proteins (2): NP_001186918, NP_057168* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR052236	Small_GTPase_RasD	Family

Pfam: PF00071

UniProt features (13 total): binding site 3, splice variant 2, modified residue 2, chain 1, propeptide 1, mutagenesis site 1, sequence conflict 1, short sequence motif 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y272-F1	80.75	0.54

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 (3): 31–38; 78–82; 145–148

Post-translational modifications (3): 11, 278, 278

Mutagenesis-validated functional residues (1):

Position	Phenotype
11	suppresses no-induced activation.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 192 (showing top): FREAC2_01, TGCACTT_MIR519C_MIR519B_MIR519A, GOZGIT_ESR1_TARGETS_DN, FOXO4_01, ENGELMANN_CANCER_PROGENITORS_UP, BACH2_01, HFH8_01, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, NADLER_OBESITY_DN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, RUAN_RESPONSE_TO_TROGLITAZONE_UP, RUAN_RESPONSE_TO_TNF_TROGLITAZONE_DN, RUAN_RESPONSE_TO_TNF_DN, BURTON_ADIPOGENESIS_5

GO Biological Process (4): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), obsolete nitric oxide mediated signal transduction (GO:0007263), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (5): GTPase activity (GO:0003924), GTP binding (GO:0005525), G-protein beta-subunit binding (GO:0031681), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), plasma membrane (GO:0005886), sarcoplasmic reticulum (GO:0016529), perinuclear region of cytoplasm (GO:0048471), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
protein binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
endoplasmic reticulum	1
sarcoplasm	1
cytoplasm	1

Protein interactions and networks

STRING

3122 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RASD1	NOS1AP	O75052	956
RASD1	NOS1	P29475	877
RASD1	CALM1	P02593	799
RASD1	CALML3	P27482	799
RASD1	CALML5	Q9NZT1	799
RASD1	CALML6	Q8TD86	790
RASD1	CALML4	Q96GE6	790
RASD1	GPSM1	Q86YR5	697
RASD1	RAPGEF3	O95398	637
RASD1	APBB1	O00213	629
RASD1	RAPGEF4	Q8WZA2	629
RASD1	APBB1IP	Q7Z5R6	611
RASD1	ACBD3	Q9H3P7	610
RASD1	RASGRP2	Q7LDG7	571
RASD1	NCK2	O43639	555

IntAct

106 interactions, top by confidence:

A	B	Type	Score
RASD1	MATR3	psi-mi:“MI:0915”(physical association)	0.720
RBMY1F	RASD1	psi-mi:“MI:0915”(physical association)	0.720
MATR3	RASD1	psi-mi:“MI:0915”(physical association)	0.720
RASD1	RBMY1F	psi-mi:“MI:0915”(physical association)	0.720
TRIM37	RASD1	psi-mi:“MI:0915”(physical association)	0.560
RASD1	HNRNPK	psi-mi:“MI:0915”(physical association)	0.560
HNRNPK	RASD1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-9	RASD1	psi-mi:“MI:0915”(physical association)	0.560
MKRN3	RASD1	psi-mi:“MI:0915”(physical association)	0.560
EXOSC8	RASD1	psi-mi:“MI:0915”(physical association)	0.560
CDR2L	RASD1	psi-mi:“MI:0915”(physical association)	0.560
HNRNPR	RASD1	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLC	RASD1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP1-3	RASD1	psi-mi:“MI:0915”(physical association)	0.560
CCDC57	RASD1	psi-mi:“MI:0915”(physical association)	0.560
WWP2	RASD1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP6-3	RASD1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-9	RASD1	psi-mi:“MI:0915”(physical association)	0.560
MDFI	RASD1	psi-mi:“MI:0915”(physical association)	0.560
KHDRBS3	RASD1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (50): RASD1 (Two-hybrid), RASD1 (Two-hybrid), RASD1 (Two-hybrid), RBMY1F (Two-hybrid), RASD1 (Two-hybrid), RASD1 (Two-hybrid), RASD1 (Affinity Capture-Western), RASD1 (Two-hybrid), RASD1 (Two-hybrid), RASD1 (Two-hybrid), CDR2L (Two-hybrid), MDFI (Two-hybrid), EXOSC8 (Two-hybrid), HNRNPR (Two-hybrid), KRT34 (Two-hybrid)

ESM2 similar proteins: A1DZY4, A6QP66, O35626, O35929, O88910, O88954, P0C0E4, P35295, P51157, P51158, P53667, P53668, P53669, P55040, P55041, P55043, P63032, P63033, Q06AU5, Q12829, Q13368, Q13637, Q3SWY9, Q5E9J3, Q5FVY2, Q5R541, Q5RFI2, Q6DGN0, Q6IMA3, Q6IMA7, Q6IMB1, Q6P0U3, Q6T310, Q8AVS6, Q8IYK8, Q8QFP8, Q8VEL9, Q8VHP8, Q8VHQ4, Q8WXH6

Diamond homologs: A5A6J7, A6NIZ1, A8NU18, B4GFJ8, B4JFU8, B4NJ72, D3Z8L7, G4MZY8, O35626, O42277, O42785, O93856, O95057, P01112, P01113, P01114, P01115, P01117, P03967, P05774, P08642, P08644, P08645, P08647, P0CQ42, P0CQ43, P10114, P10301, P10833, P13856, P18613, P20171, P22123, P22126, P22278, P22279, P22280, P23175, P28775, P32252

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 34 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
Keratinization	8	22.3×	1e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

48 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	43
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

55 predictions. Top by Δscore:

Variant	Effect	Δscore
17:17495680:GTCTC:G	acceptor_gain	1.0000
17:17495682:CTC:C	acceptor_gain	1.0000
17:17495683:TC:T	acceptor_gain	1.0000
17:17495684:CC:C	acceptor_gain	1.0000
17:17495685:C:CA	acceptor_loss	1.0000
17:17495685:C:CC	acceptor_gain	1.0000
17:17495695:C:CT	acceptor_gain	1.0000
17:17495697:C:CT	acceptor_gain	1.0000
17:17495698:A:T	acceptor_gain	1.0000
17:17495891:CTCA:C	donor_loss	1.0000
17:17495894:A:AC	donor_gain	0.9900
17:17495894:AC:A	donor_gain	0.9900
17:17495895:C:CC	donor_gain	0.9900
17:17495895:CC:C	donor_gain	0.9900
17:17495895:CCT:C	donor_gain	0.9900
17:17495895:CCTG:C	donor_gain	0.9900
17:17495681:TCTC:T	acceptor_gain	0.9800
17:17495682:CTCC:C	acceptor_gain	0.9800
17:17495683:TCCTA:T	acceptor_gain	0.9800
17:17495892:TCA:T	donor_gain	0.9800
17:17495893:CAC:C	donor_gain	0.9800
17:17495681:TCTCC:T	acceptor_gain	0.9700
17:17495682:CTCCT:C	acceptor_gain	0.9700
17:17495894:ACCT:A	donor_gain	0.9600
17:17495684:CCTA:C	acceptor_gain	0.9500
17:17495895:CCTGT:C	donor_gain	0.9500
17:17495895:C:G	donor_gain	0.9400
17:17495685:CTAG:C	acceptor_gain	0.9300
17:17495685:C:T	acceptor_gain	0.9200
17:17495890:GCTCA:G	donor_gain	0.9200

AlphaMissense

1875 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:17495195:A:G	L259P	1.000
17:17495438:G:T	A178D	1.000
17:17495533:C:A	K146N	1.000
17:17495533:C:G	K146N	1.000
17:17495535:T:C	K146E	1.000
17:17495540:C:T	G144D	1.000
17:17495542:G:C	C143W	1.000
17:17495543:C:T	C143Y	1.000
17:17495544:A:G	C143R	1.000
17:17495642:G:A	S110F	1.000
17:17495674:G:C	F99L	1.000
17:17495674:G:T	F99L	1.000
17:17495676:A:G	F99L	1.000
17:17495684:C:T	G96E	1.000
17:17495910:A:G	L91P	1.000
17:17495927:G:C	F85L	1.000
17:17495927:G:T	F85L	1.000
17:17495928:A:C	F85C	1.000
17:17495929:A:G	F85L	1.000
17:17495949:T:C	D78G	1.000
17:17495949:T:G	D78A	1.000
17:17495950:C:G	D78H	1.000
17:17495950:C:T	D78N	1.000
17:17495952:A:G	L77P	1.000
17:17495961:A:G	L74P	1.000
17:17495997:C:G	R62P	1.000
17:17496002:G:C	F60L	1.000
17:17496002:G:T	F60L	1.000
17:17496004:A:G	F60L	1.000
17:17496073:T:G	K37Q	1.000

dbSNP variants (sampled 300 via entrez): RS1000664295 (17:17494735 G>A), RS1000943014 (17:17496339 G>A), RS1001202481 (17:17494991 C>A,G,T), RS1001312983 (17:17494148 C>T), RS1001543683 (17:17497166 T>C), RS1001680640 (17:17494423 A>C,G), RS1001825059 (17:17496972 C>G,T), RS1002147296 (17:17496023 G>A), RS1003310579 (17:17496586 G>C), RS1003688848 (17:17496834 A>G), RS1003821845 (17:17494594 T>C,G), RS1004467480 (17:17494427 A>C), RS1005398901 (17:17494300 A>G), RS1005469639 (17:17495782 C>T), RS1005749439 (17:17495350 G>A)

Disease associations

OMIM: gene MIM:605550 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST000998_30	Coronary heart disease	4.000000e-10
GCST002287_3	Coronary artery disease or ischemic stroke	2.000000e-08
GCST002289_7	Coronary artery disease	2.000000e-07
GCST002290_12	Coronary artery disease or large artery stroke	2.000000e-10
GCST003429_12	Morning vs. evening chronotype	1.000000e-08
GCST004787_65	Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease)	3.000000e-06
GCST007565_163	Morning person	4.000000e-30
GCST007576_12	Chronotype	4.000000e-30
GCST90020024_511	A body shape index	4.000000e-09
GCST90020025_1388	Waist-to-hip ratio adjusted for BMI	3.000000e-13
GCST90020027_551	Waist-hip index	7.000000e-13

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0008328	chronotype measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

98 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation, increases expression	8
Estradiol	decreases reaction, affects cotreatment, increases expression, decreases expression	5
Valproic Acid	affects cotreatment, decreases expression, affects expression	4
Aflatoxin B1	affects expression, increases expression	4
Cyclosporine	increases expression	3
methylmercuric chloride	affects reaction, increases expression	2
bisphenol A	affects expression, affects cotreatment, increases expression	2
trichostatin A	decreases expression, affects cotreatment	2
sodium arsenite	decreases expression, increases expression	2
(+)-JQ1 compound	increases expression	2
Resveratrol	affects cotreatment, decreases expression	2
Acetaminophen	increases expression, affects cotreatment	2
Copper	affects binding, decreases expression, increases expression	2
Dexamethasone	increases expression, affects cotreatment	2
Formaldehyde	increases expression	2
Silver	increases expression	2
Tobacco Smoke Pollution	increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
methyleugenol	increases expression	1
6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt	affects cotreatment, increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
kojic acid	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	increases expression	1
afimoxifene	increases expression, affects reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	increases expression	1
9,10-dihydro-9,10-dihydroxybenzo(a)pyrene	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TI51	HAP1 RASD1 (-) 1	Cancer cell line	Male
CVCL_TI52	HAP1 RASD1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.