GPRASP1

Summary

GPRASP1 (G protein-coupled receptor associated sorting protein 1, HGNC:24834) is a protein-coding gene on chromosome Xq22.1, encoding G-protein coupled receptor-associated sorting protein 1 (Q5JY77). Modulates lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors.

This gene encodes a member of the GPRASP (G protein-coupled receptor associated sorting protein) family. The protein may modulate lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting protein include D2 dopamine receptor (DRD2), delta opioid receptor (OPRD1), beta-2 adrenergic receptor (ADRB2), D4 dopamine receptor (DRD4) and cannabinoid 1 receptor (CB1R). Multiple alternatively spliced transcript variants encoding the same protein have been identified.

Source: NCBI Gene 9737 — RefSeq curated summary.

At a glance

• Gene–disease (curated): arteriovenous hemangioma/malformation (Moderate, GenCC)
• Clinical variants (ClinVar): 7 total
• MANE Select transcript: NM_001184727

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24834
Approved symbol	GPRASP1
Name	G protein-coupled receptor associated sorting protein 1
Location	Xq22.1
Locus type	gene with protein product
Status	Approved
Aliases	GASP, GASP1
Ensembl gene	ENSG00000198932
Ensembl biotype	protein_coding
OMIM	300417
Entrez	9737

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 30 protein_coding, 1 retained_intron

ENST00000361600, ENST00000415986, ENST00000444152, ENST00000466098, ENST00000537097, ENST00000652542, ENST00000892411, ENST00000892412, ENST00000892413, ENST00000892414, ENST00000892415, ENST00000892416, ENST00000892417, ENST00000892418, ENST00000892419, ENST00000892420, ENST00000892421, ENST00000931714, ENST00000931715, ENST00000942621, ENST00000942622, ENST00000942623, ENST00000942624, ENST00000942625, ENST00000942626, ENST00000942627, ENST00000942628, ENST00000942629, ENST00000942630, ENST00000942631, ENST00000942632

RefSeq mRNA: 4 — MANE Select: NM_001184727 NM_001099410, NM_001099411, NM_001184727, NM_014710

CCDS: CCDS35352

Canonical transcript exons

ENST00000537097 — 6 exons

Exon	Start	End
ENSE00001038252	102652175	102652265
ENSE00001638203	102652831	102652898
ENSE00001782199	102653221	102653298
ENSE00001885816	102653580	102659083
ENSE00002254346	102651687	102651733
ENSE00002270373	102651483	102651595

Expression profiles

Bgee: expression breadth ubiquitous, 275 present calls, max score 98.77.

FANTOM5 (CAGE): breadth broad, TPM avg 2.7804 / max 330.1331, expressed in 344 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
196986	2.4406	305
196985	0.3398	157

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	98.77	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.40	gold quality
endothelial cell	CL:0000115	97.57	gold quality
cerebellar vermis	UBERON:0004720	96.55	gold quality
superior frontal gyrus	UBERON:0002661	96.36	gold quality
postcentral gyrus	UBERON:0002581	95.86	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.86	gold quality
cerebellar cortex	UBERON:0002129	95.75	gold quality
cerebellar hemisphere	UBERON:0002245	95.74	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.73	gold quality
cerebellum	UBERON:0002037	95.69	gold quality
parietal lobe	UBERON:0001872	95.44	gold quality
orbitofrontal cortex	UBERON:0004167	95.40	gold quality
primary visual cortex	UBERON:0002436	95.27	gold quality
entorhinal cortex	UBERON:0002728	95.07	gold quality
Brodmann (1909) area 46	UBERON:0006483	95.01	gold quality
occipital lobe	UBERON:0002021	94.88	gold quality
left ovary	UBERON:0002119	94.34	gold quality
pons	UBERON:0000988	94.20	gold quality
CA1 field of hippocampus	UBERON:0003881	94.19	gold quality
Brodmann (1909) area 10	UBERON:0013541	93.99	gold quality
paraflocculus	UBERON:0005351	93.95	gold quality
right frontal lobe	UBERON:0002810	93.86	gold quality
blood vessel layer	UBERON:0004797	93.71	gold quality
superior vestibular nucleus	UBERON:0007227	93.69	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.61	gold quality
frontal cortex	UBERON:0001870	93.53	gold quality
pituitary gland	UBERON:0000007	93.49	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.42	gold quality
right ovary	UBERON:0002118	93.03	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.48

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ZNF699

miRNA regulators (miRDB)

60 targeting GPRASP1, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-425-5P	99.59	67.67	900
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-4687-3P	99.48	66.41	968
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-330-3P	99.41	69.95	2521

Literature-anchored findings (GeneRIF, showing 13)

• identified a protein that binds preferentially to the cytoplasmic tail of the delta opioid receptor as a candidate heterotrimeric GTP-binding protein (G protein)-coupled receptor-associated sorting protein (GASP) [GASP] (PMID:12142540)
• Modulation of the D2-GASP interaction is important for the functional down-regulation of D2 dopamine receptors. (PMID:16049099)
• This review describes the discovery of GASPs, their major features, interacting partners, functions and possible involvement in pathological situations including neurodegenerative diseases and cancer. (PMID:20394773)
• following this endocytosis the D(3) dopamine receptors fail to recycle and are instead targeted for degradation through an interaction with the G protein-coupled receptor (GPCR)-associated sorting protein-1 (GASP-1) (PMID:21030592)
• GASP-1 is a key regulator of the trafficking and, by extension, functional expression of GPR55 (PMID:21718301)
• These studies identify GASP-1 as a potential new serum and tumor biomarker for breast cancer. (PMID:21791203)
• LIR was able to induce gains in 1RM and quadriceps CSA similar to those observed after traditional HI. These responses may be related to the concomitant decrease in MSTN and increase in FLST isoforms, GASP-1, and SMAD-7 mRNA gene expression. (PMID:21900845)
• GASP1 was identified as a potential new serum and biomarker for brain, pancreatic, lung, and breast cancers, and gliomas. (PMID:22483848)
• Data suggest that specific serine/threonine residues in DRD2 (dopamine receptor D2) are involved in regulation of DRD2 endocytosis by GRK2 (G-protein coupled receptor kinase 2) and GASP1. (PMID:23082996)
• Study demonstrated that binding of clozapine or olanzapine to the 5-HT7 receptor leads to antagonist-mediated lysosomal degradation by exposing key residues in the C-terminal tail that interact with GASP-1 (PMID:25706089)
• G-protein coupled receptor-associated sorting protein 1 (GASP-1), a ubiquitous tumor marker, promotes proliferation and invasion of triple negative breast cancer. (PMID:35122807)
• GPRASP1 is a candidate anti-oncogene and correlates with immune microenvironment and immunotherapeutic efficiency in head and neck cancer. (PMID:36264603)
• Comprehensive pan-cancer analysis of role of GPRASP1, associated with clinical outcomes, immune microenvironment, and immunotherapeutic efficiency in pancreatic cancer. (PMID:36801507)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	armc10	ENSDARG00000062960
mus_musculus	Gprasp1	ENSMUSG00000043384
rattus_norvegicus	Gprasp1	ENSRNOG00000049985
caenorhabditis_elegans		WBGENE00013456

Paralogs (10): ARMCX3 (ENSG00000102401), ARMCX5 (ENSG00000125962), ARMCX1 (ENSG00000126947), ARMC12 (ENSG00000157343), GPRASP2 (ENSG00000158301), ARMC10 (ENSG00000170632), ARMCX2 (ENSG00000184867), ARMCX4 (ENSG00000196440), GPRASP3 (ENSG00000198908), ARMCX6 (ENSG00000198960)

Protein

Protein identifiers

G-protein coupled receptor-associated sorting protein 1 — Q5JY77 (reviewed: Q5JY77)

All UniProt accessions (1): Q5JY77

UniProt curated annotations — full annotation on UniProt →

Function. Modulates lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. Targets receptors for degradation in lysosomes via its interaction with BECN2.

Subunit / interactions. Interacts with cytoplasmic tails of a variety of G-protein coupled receptors such as D2 dopamine receptor/DRD2, delta opioid receptor/OPRD1, beta-2 adrenergic receptor/ADRB2 and D4 dopamine receptor/DRD4. Interacts with PER1. Interacts with BECN2; the interaction is direct.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in the brain, with lower expression in medulla, spinal cord and substantia nigra.

Similarity. Belongs to the GPRASP family.

RefSeq proteins (4): NP_001092880, NP_001092881, NP_001171656, NP_055525 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006911	ARM-rpt_dom	Domain
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR043374	GASP1-3	Family

Pfam: PF04826

UniProt features (14 total): region of interest 5, modified residue 3, sequence variant 3, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JY77-F1	41.79	0.05

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 899, 297, 631

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 154 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, WWTAAGGC_UNKNOWN, GOBP_LYSOSOMAL_TRANSPORT, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_ENDOSOME_TO_LYSOSOME_TRANSPORT, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, MODULE_453, GGGTGGRR_PAX4_03, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, MODULE_66, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_RECEPTOR_METABOLIC_PROCESS

GO Biological Process (2): endosome to lysosome transport (GO:0008333), G protein-coupled receptor catabolic process (GO:1990172)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
lysosomal transport	1
intercellular transport	1
vesicle-mediated transport	1
receptor catabolic process	1
negative regulation of G protein-coupled receptor signaling pathway	1
binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1547 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GPRASP1	ADRB2	P07550	754
GPRASP1	OPRM1	P35372	696
GPRASP1	OPRD1	P41143	680
GPRASP1	AVPR2	P30518	647
GPRASP1	DRD4	P21917	555
GPRASP1	GSTM1	P09488	549
GPRASP1	BDKRB1	P46663	539
GPRASP1	RGS3	P49796	498
GPRASP1	BEX1	Q9HBH7	493
GPRASP1	TENT5D	Q8NEK8	487
GPRASP1	CHRM3	P20309	475
GPRASP1	BEX3	Q00994	465
GPRASP1	BECN2	A8MW95	462
GPRASP1	PTGR2	Q8N8N7	447
GPRASP1	ACVR2B	Q13705	445

IntAct

34 interactions, top by confidence:

A	B	Type	Score
BECN2	GPRASP1	psi-mi:“MI:0915”(physical association)	0.580
GPRASP1	BECN2	psi-mi:“MI:0915”(physical association)	0.580
GPRASP1	OPRD1	psi-mi:“MI:0915”(physical association)	0.530
GPRASP1	OPRD1	psi-mi:“MI:0407”(direct interaction)	0.530
CTSG	MANBA	psi-mi:“MI:0914”(association)	0.530
GPRASP1	OPRK1	psi-mi:“MI:0407”(direct interaction)	0.440
OPRM1	GPRASP1	psi-mi:“MI:0407”(direct interaction)	0.440
OPRL1	GPRASP1	psi-mi:“MI:0407”(direct interaction)	0.440
GPRASP1	CHRM1	psi-mi:“MI:0407”(direct interaction)	0.440
CHRM2	GPRASP1	psi-mi:“MI:0407”(direct interaction)	0.440
GPRASP1	Hrh2	psi-mi:“MI:0407”(direct interaction)	0.440
GPRASP1	HTR7	psi-mi:“MI:0407”(direct interaction)	0.440
TBXA2R	GPRASP1	psi-mi:“MI:0407”(direct interaction)	0.440
ADRB1	GPRASP1	psi-mi:“MI:0407”(direct interaction)	0.440
CALCR	GPRASP1	psi-mi:“MI:0407”(direct interaction)	0.440
GPRASP1	H1-5	psi-mi:“MI:0915”(physical association)	0.400
GPRASP1	HSPA5	psi-mi:“MI:0915”(physical association)	0.400
Oprd1	GPRASP1	psi-mi:“MI:0915”(physical association)	0.400
gB	GPRASP1	psi-mi:“MI:0915”(physical association)	0.370
GPRASP1	TK	psi-mi:“MI:0915”(physical association)	0.370
GPRASP1		psi-mi:“MI:0915”(physical association)	0.370
ATXN7	GPRASP1	psi-mi:“MI:0915”(physical association)	0.370
CAMK2D	DVL2	psi-mi:“MI:0914”(association)	0.350
		psi-mi:“MI:0914”(association)	0.350
MARK2	SMAP	psi-mi:“MI:0914”(association)	0.350
GOLGA2	UPK2	psi-mi:“MI:0914”(association)	0.350
	NFIB	psi-mi:“MI:0914”(association)	0.350
EPHA4	GPRASP1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (52): GPRASP1 (Two-hybrid), GPRASP1 (Affinity Capture-MS), GPRASP1 (Affinity Capture-RNA), GPRASP1 (Two-hybrid), GPRASP1 (Two-hybrid), GPRASP1 (Two-hybrid), GPRASP1 (Two-hybrid), GPRASP1 (Two-hybrid), GPRASP1 (Two-hybrid), GPRASP1 (Two-hybrid), GPRASP1 (Two-hybrid), GPRASP1 (Two-hybrid), GPRASP1 (Two-hybrid), GPRASP1 (Two-hybrid), GPRASP1 (Two-hybrid)

ESM2 similar proteins: A0A0P0XCU3, A0A1P8BH59, A1YFC1, A1YGK6, A2T7F2, A6NJ88, B7SY83, F1QU13, F4HXQ7, F4ICX9, F4INW9, F4KCE9, O04251, O81472, O96001, P0CV01, P0CV36, P0CV42, P0CV43, P0CV45, P0CV46, P0CV55, P0CV57, P0CV58, P10322, P16531, P48786, Q0DVU4, Q10P83, Q2EI21, Q3URU2, Q5JY77, Q5QNA6, Q5R7U0, Q5SRN2, Q5U4C1, Q5XPK0, Q6K5K2, Q7T2B3, Q8N3K9

Diamond homologs: B1WBW4, Q3UZB0, Q5H9R4, Q5JY77, Q5R4B2, Q5R7U0, Q5R9J3, Q5RDG2, Q5U310, Q5U4C1, Q5XID7, Q6A058, Q6P1M9, Q6PI77, Q7L311, Q8BHS6, Q8BUY8, Q8N2F6, Q920R4, Q96D09, Q9BE11, Q9CX83, Q9D0L7, Q9P291, Q9UH62, Q6PB60, Q71HP2, Q7L4S7, Q66HF0, Q8K3A6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 31 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
GPCR ligand binding	6	18.3×	2e-05
Class A/1 (Rhodopsin-like receptors)	5	17.7×	2e-04
GPCR downstream signalling	7	14.5×	2e-05
Signaling by GPCR	7	13.4×	2e-05
G alpha (i) signalling events	6	11.1×	3e-04

GO biological processes:

GO term	Partners	Fold	FDR
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	5	60.0×	7e-06
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	5	42.1×	2e-05
phospholipase C-activating G protein-coupled receptor signaling pathway	5	25.3×	9e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

688 predictions. Top by Δscore:

Variant	Effect	Δscore
X:102653657:G:GT	donor_gain	1.0000
X:102653658:A:T	donor_gain	1.0000
X:102653678:C:G	donor_gain	1.0000
X:102651543:A:T	donor_gain	0.9900
X:102652828:TAG:T	acceptor_loss	0.9900
X:102652829:A:AG	acceptor_gain	0.9900
X:102652829:AGGC:A	acceptor_loss	0.9900
X:102652830:G:GG	acceptor_gain	0.9900
X:102652830:GGCCT:G	acceptor_gain	0.9900
X:102652896:G:GT	donor_gain	0.9900
X:102652897:AG:A	donor_loss	0.9900
X:102652898:GG:G	donor_loss	0.9900
X:102652899:G:GG	donor_loss	0.9900
X:102653204:T:G	acceptor_gain	0.9900
X:102653297:AG:A	donor_loss	0.9900
X:102653298:GG:G	donor_loss	0.9900
X:102653299:G:GA	donor_loss	0.9900
X:102653300:T:G	donor_loss	0.9900
X:102653683:T:TA	donor_gain	0.9900
X:102651600:G:GG	donor_gain	0.9800
X:102652609:G:GT	donor_gain	0.9800
X:102652671:GGCC:G	donor_gain	0.9800
X:102653215:CTGTA:C	acceptor_loss	0.9800
X:102653216:TGTA:T	acceptor_loss	0.9800
X:102653217:GTAGG:G	acceptor_loss	0.9800
X:102653220:G:T	acceptor_loss	0.9800
X:102653684:T:TA	donor_gain	0.9800
X:102653745:GAGGC:G	donor_gain	0.9800
X:102651557:G:GT	donor_gain	0.9700
X:102651594:AGGC:A	donor_loss	0.9700

AlphaMissense

9340 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:102657389:T:C	L1159P	0.980
X:102657379:T:C	F1156L	0.968
X:102657381:T:A	F1156L	0.968
X:102657381:T:G	F1156L	0.968
X:102657445:G:C	A1178P	0.961
X:102657851:T:C	L1313P	0.961
X:102657512:T:C	L1200P	0.959
X:102657472:T:C	F1187L	0.957
X:102657474:T:A	F1187L	0.957
X:102657474:T:G	F1187L	0.957
X:102657812:T:C	L1300P	0.957
X:102657299:T:C	L1129P	0.954
X:102657704:T:C	L1264P	0.954
X:102656929:T:C	F1006L	0.951
X:102656931:C:A	F1006L	0.951
X:102656931:C:G	F1006L	0.951
X:102657824:C:T	S1304F	0.951
X:102658018:T:C	F1369L	0.951
X:102658020:C:A	F1369L	0.951
X:102658020:C:G	F1369L	0.951
X:102657734:T:A	V1274D	0.946
X:102657048:G:C	W1045C	0.943
X:102657048:G:T	W1045C	0.943
X:102657446:C:A	A1178E	0.943
X:102657634:T:C	C1241R	0.942
X:102657067:T:C	F1052L	0.941
X:102657069:C:A	F1052L	0.941
X:102657069:C:G	F1052L	0.941
X:102657046:T:A	W1045R	0.939
X:102657046:T:C	W1045R	0.939

dbSNP variants (sampled 300 via entrez): RS1000029508 (X:102658663 G>A), RS1001381120 (X:102656303 C>G,T), RS1002915642 (X:102650742 GTC>G), RS1003156794 (X:102654700 T>C), RS1003337428 (X:102651087 G>T), RS1003538240 (X:102655353 G>A,C,T), RS1004209630 (X:102659323 G>A), RS1004547665 (X:102656810 G>A,T), RS1005084007 (X:102653939 G>A), RS1005449667 (X:102653312 T>C), RS1006224562 (X:102654235 A>T), RS1006607343 (X:102654644 A>C), RS1007049375 (X:102649653 C>G), RS1007101709 (X:102650212 T>C,G), RS1007272564 (X:102658531 G>T)

Disease associations

OMIM: gene MIM:300417 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
arteriovenous hemangioma/malformation	Moderate	X-linked

Mondo (1): arteriovenous hemangioma/malformation (MONDO:0001256)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D001165	Arteriovenous Malformations	C14.240.850.750; C14.907.150; C16.131.240.850.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression	7
Air Pollutants	increases expression, decreases expression, increases abundance	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Silicon Dioxide	increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
metarrestin	affects binding, decreases reaction, increases reaction	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
butyraldehyde	decreases expression	1
ginsenoside Rg2	affects binding, decreases reaction	1
potassium chromate(VI)	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Nickel	decreases expression	1
Rotenone	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Triclosan	decreases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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