ARFGAP2

Summary

ARFGAP2 (ARF GTPase activating protein 2, HGNC:13504) is a protein-coding gene on chromosome 11p11.2, encoding ADP-ribosylation factor GTPase-activating protein 2 (Q8N6H7). GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1).

Predicted to enable GTPase activator activity. Predicted to be involved in COPI coating of Golgi vesicle. Located in Golgi apparatus; cytosol; and plasma membrane.

Source: NCBI Gene 84364 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 95 total — 1 pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_032389

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13504
Approved symbol	ARFGAP2
Name	ARF GTPase activating protein 2
Location	11p11.2
Locus type	gene with protein product
Status	Approved
Aliases	IRZ, Zfp289, FLJ14576
Ensembl gene	ENSG00000149182
Ensembl biotype	protein_coding
OMIM	606908
Entrez	84364

Gene structure

Transcript identifiers

Ensembl transcripts: 52 — 33 protein_coding, 8 nonsense_mediated_decay, 7 retained_intron, 4 protein_coding_CDS_not_defined

ENST00000395449, ENST00000426335, ENST00000524586, ENST00000524727, ENST00000524782, ENST00000525314, ENST00000525398, ENST00000525635, ENST00000526185, ENST00000526342, ENST00000526948, ENST00000527097, ENST00000527776, ENST00000527927, ENST00000528041, ENST00000528072, ENST00000528444, ENST00000528708, ENST00000529439, ENST00000529455, ENST00000529599, ENST00000530596, ENST00000530794, ENST00000531750, ENST00000532438, ENST00000532478, ENST00000533243, ENST00000533939, ENST00000892878, ENST00000892879, ENST00000892880, ENST00000892881, ENST00000892882, ENST00000892883, ENST00000892884, ENST00000892885, ENST00000892886, ENST00000892887, ENST00000892888, ENST00000892889, ENST00000924864, ENST00000924865, ENST00000924866, ENST00000924867, ENST00000946549, ENST00000946550, ENST00000946551, ENST00000946552, ENST00000946553, ENST00000946554, ENST00000946555, ENST00000946556

RefSeq mRNA: 3 — MANE Select: NM_032389 NM_001242832, NM_001410995, NM_032389

CCDS: CCDS73283, CCDS7926, CCDS91467

Canonical transcript exons

ENST00000524782 — 16 exons

Exon	Start	End
ENSE00002179988	47166760	47166886
ENSE00002187044	47164301	47165502
ENSE00003460962	47167909	47168043
ENSE00003492009	47176516	47176634
ENSE00003511435	47175851	47175923
ENSE00003522929	47171664	47171800
ENSE00003578145	47168123	47168251
ENSE00003604542	47175182	47175313
ENSE00003614200	47175015	47175098
ENSE00003664287	47172281	47172333
ENSE00003677835	47173759	47173840
ENSE00003679278	47173426	47173482
ENSE00003683604	47176782	47176879
ENSE00003791084	47171426	47171557
ENSE00004283393	47166506	47166599
ENSE00004283394	47166268	47166386

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 97.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.9464 / max 110.7990, expressed in 1807 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
119549	16.9464	1807

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of leg	UBERON:0001511	97.22	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.01	gold quality
apex of heart	UBERON:0002098	97.00	gold quality
skin of abdomen	UBERON:0001416	96.94	gold quality
cerebellar hemisphere	UBERON:0002245	96.94	gold quality
cerebellar cortex	UBERON:0002129	96.87	gold quality
gastrocnemius	UBERON:0001388	96.76	gold quality
muscle of leg	UBERON:0001383	96.65	gold quality
body of pancreas	UBERON:0001150	96.61	gold quality
granulocyte	CL:0000094	96.56	gold quality
body of stomach	UBERON:0001161	96.40	gold quality
right lobe of thyroid gland	UBERON:0001119	96.16	gold quality
right lobe of liver	UBERON:0001114	96.06	gold quality
tibial nerve	UBERON:0001323	96.00	gold quality
right adrenal gland cortex	UBERON:0035827	95.94	gold quality
sural nerve	UBERON:0015488	95.92	gold quality
right adrenal gland	UBERON:0001233	95.87	gold quality
right frontal lobe	UBERON:0002810	95.85	gold quality
right uterine tube	UBERON:0001302	95.84	gold quality
right ovary	UBERON:0002118	95.83	gold quality
minor salivary gland	UBERON:0001830	95.79	gold quality
cerebellum	UBERON:0002037	95.79	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.78	gold quality
body of uterus	UBERON:0009853	95.75	gold quality
mucosa of stomach	UBERON:0001199	95.73	gold quality
left ovary	UBERON:0002119	95.73	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.69	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.67	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.63	gold quality
lower esophagus	UBERON:0013473	95.62	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.62

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

53 targeting ARFGAP2, 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-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6753-3P	99.93	66.57	637
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-593-5P	99.34	69.50	965
HSA-MIR-183-5P	99.31	72.27	1164
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-1909-3P	99.03	66.56	1662

Literature-anchored findings (GeneRIF, showing 5)

• human ARFGAP2 and ARFGAP3 are associated with COP-I-coated vesicles and function in COP I traffic (PMID:17760859)
• Differential roles of ArfGAP1, ArfGAP2, and ArfGAP3 in COPI trafficking (PMID:19015319)
• ArfGAP1, ArfGAP2, and ArfGAP3 have overlapping roles in regulating COPI function in Golgi-to-ER retrograde transport. (PMID:19299515)
• ARFGAP2 and ARFGAP3 are essential for COPI coat assembly on the Golgi membrane of living cells. (PMID:20858901)
• analysis of the distinct role of subcomplexes of the COPI coat in the regulation of ArfGAP2 activity (PMID:22375848)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	arfgap2	ENSDARG00000067601
mus_musculus	Arfgap2	ENSMUSG00000027255
rattus_norvegicus	Arfgap2	ENSRNOG00000014429

Paralogs (28): ARAP2 (ENSG00000047365), ACAP1 (ENSG00000072818), SMAP2 (ENSG00000084070), ASAP3 (ENSG00000088280), ARFGAP1 (ENSG00000101199), ADAP1 (ENSG00000105963), AGFG2 (ENSG00000106351), GIT1 (ENSG00000108262), SMAP1 (ENSG00000112305), ACAP2 (ENSG00000114331), ARAP3 (ENSG00000120318), ACAP3 (ENSG00000131584), AGAP3 (ENSG00000133612), AGAP2 (ENSG00000135439), APPL2 (ENSG00000136044), GIT2 (ENSG00000139436), ASAP2 (ENSG00000151693), ASAP1 (ENSG00000153317), APPL1 (ENSG00000157500), AGAP1 (ENSG00000157985), AGAP5 (ENSG00000172650), AGFG1 (ENSG00000173744), ADAP2 (ENSG00000184060), ARAP1 (ENSG00000186635), AGAP4 (ENSG00000188234), AGAP6 (ENSG00000204149), AGAP9 (ENSG00000204172), ARFGAP3 (ENSG00000242247)

Protein

Protein identifiers

ADP-ribosylation factor GTPase-activating protein 2 — Q8N6H7 (reviewed: Q8N6H7)

Alternative names: GTPase-activating protein ZNF289, Zinc finger protein 289

All UniProt accessions (18): Q8N6H7, A0A0D9SF70, E9PIY6, E9PJT7, E9PK28, E9PM18, E9PM63, E9PMR9, E9PMU9, E9PN48, E9PNY8, E9PQP3, G5E9L0, H0YCA3, H0YCL1, H0YDN9, H0YDX1, H0YF45

UniProt curated annotations — full annotation on UniProt →

Function. GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Implicated in coatomer-mediated protein transport between the Golgi complex and the endoplasmic reticulum. Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes.

Subunit / interactions. Interacts with the coatomer complex. Interacts with the C-terminal appendage domain of COPG1.

Subcellular location. Cytoplasm. Golgi apparatus membrane.

Miscellaneous. Vero cells overexpressing truncated ARFGAP2 show accumulation of cholera toxin A subunit in the Golgi complex rather than the endoplasmic reticulum.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N6H7-1	1	yes
Q8N6H7-2	2
Q8N6H7-3	3

RefSeq proteins (3): NP_001229761, NP_001397924, NP_115765* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001164	ArfGAP_dom	Domain
IPR037278	ARFGAP/RecO	Homologous_superfamily
IPR038508	ArfGAP_dom_sf	Homologous_superfamily

Pfam: PF01412

UniProt features (49 total): modified residue 14, helix 7, compositionally biased region 4, sequence variant 4, region of interest 4, splice variant 3, turn 3, strand 3, sequence conflict 2, initiator methionine 1, chain 1, domain 1, zinc finger region 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2P57	X-RAY DIFFRACTION	1.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N6H7-F1	66.19	0.25

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 (14): 2, 140, 146, 201, 237, 240, 312, 334, 340, 364, 368, 432, 433, 513

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-6807878	COPI-mediated anterograde transport
R-HSA-6811434	COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-199977	ER to Golgi Anterograde Transport
R-HSA-199991	Membrane Trafficking
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-5653656	Vesicle-mediated transport
R-HSA-597592	Post-translational protein modification
R-HSA-6811442	Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-8856688	Golgi-to-ER retrograde transport
R-HSA-9012999	RHO GTPase cycle
R-HSA-948021	Transport to the Golgi and subsequent modification
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 162 (showing top): MORF_MTA1, GOBP_VESICLE_LOCALIZATION, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_VESICLE_ORGANIZATION, MORF_UBE2I, GOBP_VESICLE_TARGETING, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, MORF_TERF1, MORF_RAF1, BLALOCK_ALZHEIMERS_DISEASE_UP, MORF_CTBP1, GOBP_MEMBRANE_ORGANIZATION, KEGG_ENDOCYTOSIS

GO Biological Process (3): protein transport (GO:0015031), COPI coating of Golgi vesicle (GO:0048205), vesicle-mediated transport (GO:0016192)

GO Molecular Function (3): GTPase activator activity (GO:0005096), zinc ion binding (GO:0008270), metal ion binding (GO:0046872)

GO Cellular Component (7): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasm (GO:0005737), endomembrane system (GO:0012505), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
Membrane Trafficking	2
ER to Golgi Anterograde Transport	1
Golgi-to-ER retrograde transport	1
RHO GTPase cycle	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Transport to the Golgi and subsequent modification	1
Vesicle-mediated transport	1
Post-translational protein modification	1
Metabolism of proteins	1
Intra-Golgi and retrograde Golgi-to-ER traffic	1
Signaling by Rho GTPases	1
Asparagine N-linked glycosylation	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
transport	2
cytoplasm	2
intracellular protein localization	1
establishment of protein localization	1
COPI-coated vesicle budding	1
Golgi transport vesicle coating	1
cellular process	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
transition metal ion binding	1
cation binding	1
Golgi apparatus	1
bounding membrane of organelle	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
intracellular anatomical structure	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

1694 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARFGAP2	ARF1	P10947	759
ARFGAP2	MLF2	Q15773	735
ARFGAP2	KLF17	Q5JT82	666
ARFGAP2	ARL1	P40616	624
ARFGAP2	COPB1	P53618	615
ARFGAP2	SCGN	O76038	576
ARFGAP2	ID1	P41134	549
ARFGAP2	COPB2	P35606	546
ARFGAP2	MRFAP1	Q9Y605	531
ARFGAP2	WNT2	P09544	510
ARFGAP2	SLC5A5	Q92911	491
ARFGAP2	ARCN1	P48444	487
ARFGAP2	GBF1	Q92538	480
ARFGAP2	AP5S1	Q9NUS5	466
ARFGAP2	DDAH2	O95865	461

IntAct

73 interactions, top by confidence:

A	B	Type	Score
TSSK6	HSP90AA1	psi-mi:“MI:0914”(association)	0.740
CLK3	PSME3	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530
TCF4	CBFA2T3	psi-mi:“MI:0914”(association)	0.530
CEPT1	RBM6	psi-mi:“MI:0914”(association)	0.530
SERPING1	PLAT	psi-mi:“MI:0914”(association)	0.500
ARFGAP2	H1-4	psi-mi:“MI:0915”(physical association)	0.400
ARFGAP2	H1-2	psi-mi:“MI:0915”(physical association)	0.400
ARFGAP2	MAD2L1	psi-mi:“MI:0915”(physical association)	0.400
DCAF6	ARFGAP2	psi-mi:“MI:0915”(physical association)	0.400
ASF1A	CDAN1	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
GOLM1	RAB19	psi-mi:“MI:0914”(association)	0.350
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
TCF4	CBFA2T3	psi-mi:“MI:0914”(association)	0.350
SERPING1	PLAT	psi-mi:“MI:0914”(association)	0.350
CEPT1	AFDN	psi-mi:“MI:0914”(association)	0.350
JAZF1	TNPO2	psi-mi:“MI:0914”(association)	0.350
KEAP1	ASNS	psi-mi:“MI:0914”(association)	0.350
ITM2B	ILVBL	psi-mi:“MI:0914”(association)	0.350
hspa1a_hspa1b_human-1	SHTN1	psi-mi:“MI:0914”(association)	0.350
FAM24B	SHTN1	psi-mi:“MI:0914”(association)	0.350
CFAP184	TARS3	psi-mi:“MI:0914”(association)	0.350
DUSP16	MEIOC	psi-mi:“MI:0914”(association)	0.350

BioGRID (202): ADI1 (Co-fractionation), ARFGAP1 (Co-fractionation), ARFGAP2 (Co-fractionation), ARFGAP2 (Co-fractionation), ARFGAP2 (Co-fractionation), ARFGAP2 (Co-fractionation), ARFGAP2 (Co-fractionation), ARFGAP2 (Co-fractionation), ARFGAP2 (Proximity Label-MS), ARFGAP2 (Proximity Label-MS), ARFGAP2 (Affinity Capture-MS), ARFGAP2 (Affinity Capture-MS), ARFGAP2 (Proximity Label-MS), ARFGAP2 (Affinity Capture-MS), ARFGAP2 (Affinity Capture-MS)

ESM2 similar proteins: A1L520, A5DDB7, A8WSQ9, O80925, O82171, O94601, P03197, P0C717, P35197, P38682, P53604, P93755, Q09237, Q09446, Q09531, Q0CGL5, Q0WQ57, Q10367, Q17R07, Q20374, Q24546, Q28CM8, Q3KST5, Q3MID3, Q4KLN7, Q4KMC9, Q4R4C9, Q5R787, Q5RAT7, Q62848, Q80Y56, Q8GWI5, Q8H100, Q8N6H7, Q8N6T3, Q95XU6, Q95Y36, Q99K28, Q9C950, Q9D8S3

Diamond homologs: A1L520, A1Z7A6, A5PK26, A6NIR3, O43150, O74345, O75689, O80925, O82171, O94601, O97902, P35197, P38682, P40529, P52594, Q04412, Q09531, Q0WQQ1, Q10165, Q10367, Q14161, Q15027, Q15057, Q17R07, Q1AAU6, Q1ZXH8, Q28CM8, Q2TA45, Q3MID3, Q3UHD9, Q4KLH5, Q4KLN7, Q4LDD4, Q4R4C9, Q5F413, Q5FVC7, Q5R787, Q5RAT7, Q5U464, Q5VTM2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	54
Likely benign	9
Benign	7

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
525135	NC_000011.9:g.(?46880514)(47470726_?)del	Pathogenic

SpliceAI

2362 predictions. Top by Δscore:

Variant	Effect	Δscore
11:47165501:TC:T	acceptor_gain	1.0000
11:47165502:CC:C	acceptor_gain	1.0000
11:47165510:C:CT	acceptor_gain	1.0000
11:47165511:G:T	acceptor_gain	1.0000
11:47166263:CTCA:C	donor_loss	1.0000
11:47166265:CACCT:C	donor_loss	1.0000
11:47166266:ACCT:A	donor_loss	1.0000
11:47166323:TTGA:T	donor_gain	1.0000
11:47166324:TGAC:T	donor_gain	1.0000
11:47166383:CTTC:C	acceptor_gain	1.0000
11:47166384:TTC:T	acceptor_gain	1.0000
11:47166385:TCCTG:T	acceptor_loss	1.0000
11:47166387:C:CC	acceptor_gain	1.0000
11:47166388:T:G	acceptor_loss	1.0000
11:47166598:TA:T	acceptor_gain	1.0000
11:47166600:C:CC	acceptor_gain	1.0000
11:47167908:CCTTT:C	donor_gain	1.0000
11:47168121:A:AC	donor_gain	1.0000
11:47168122:C:CC	donor_gain	1.0000
11:47168247:CAGAG:C	acceptor_gain	1.0000
11:47171475:T:TA	donor_gain	1.0000
11:47171476:C:A	donor_gain	1.0000
11:47171553:CGACC:C	acceptor_gain	1.0000
11:47171556:CC:C	acceptor_gain	1.0000
11:47171556:CCC:C	acceptor_loss	1.0000
11:47171556:CCCT:C	acceptor_gain	1.0000
11:47171557:CCT:C	acceptor_gain	1.0000
11:47171558:C:CC	acceptor_gain	1.0000
11:47171558:C:T	acceptor_gain	1.0000
11:47171559:T:C	acceptor_gain	1.0000

AlphaMissense

3434 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:47166293:G:T	A507D	1.000
11:47166294:C:G	A507P	1.000
11:47166314:G:T	A500D	1.000
11:47166326:A:T	V496D	1.000
11:47166338:A:G	F492S	1.000
11:47175238:A:C	Y114D	1.000
11:47175246:G:T	A111D	1.000
11:47175860:A:C	N85K	1.000
11:47175860:A:T	N85K	1.000
11:47175885:A:G	L77P	1.000
11:47175901:A:G	W72R	1.000
11:47175901:A:T	W72R	1.000
11:47175912:A:G	L68S	1.000
11:47175923:C:A	R64S	1.000
11:47175923:C:G	R64S	1.000
11:47176516:C:A	R64M	1.000
11:47176516:C:G	R64T	1.000
11:47176521:G:C	F62L	1.000
11:47176521:G:T	F62L	1.000
11:47176523:A:G	F62L	1.000
11:47176524:G:C	S61R	1.000
11:47176524:G:T	S61R	1.000
11:47176526:T:G	S61R	1.000
11:47176532:G:C	H59D	1.000
11:47176537:C:T	G57D	1.000
11:47176538:C:G	G57R	1.000
11:47176546:C:G	R54P	1.000
11:47176547:G:T	R54S	1.000
11:47176555:C:T	G51E	1.000
11:47176560:A:C	C49W	1.000

dbSNP variants (sampled 300 via entrez): RS1000482210 (11:47170873 G>C), RS1000727989 (11:47177127 C>A,T), RS1000994022 (11:47165097 A>T), RS1001019968 (11:47175668 G>A,C), RS1001087404 (11:47170572 A>G), RS1001251197 (11:47167752 C>T), RS1001305315 (11:47167516 C>A,G), RS1001584978 (11:47171994 G>A), RS1001632854 (11:47178313 C>T), RS1001635330 (11:47177222 A>C), RS1001693304 (11:47177855 T>C), RS1001857702 (11:47170814 C>CT), RS1001910188 (11:47170510 G>A,T), RS1001976596 (11:47177009 G>A,T), RS1001977798 (11:47176399 G>A)

Disease associations

OMIM: gene MIM:606908 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): hypertrophic cardiomyopathy (MONDO:0005045)

Orphanet (1): Rare hypertrophic cardiomyopathy (Orphanet:217569)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0001639	Hypertrophic cardiomyopathy

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004521_165	Autism spectrum disorder or schizophrenia	3.000000e-08
GCST007709_289	General factor of neuroticism	5.000000e-08
GCST007825_4	Alzheimer’s disease or fasting glucose levels (pleiotropy)	3.000000e-16

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007660	neuroticism measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects binding, increases reaction, increases abundance	2
Air Pollutants	decreases expression, affects cotreatment, increases abundance, increases expression, increases oxidation	2
FR900359	decreases phosphorylation	1
ginger extract	decreases expression, increases abundance	1
urushiol	decreases expression	1
alpha-pinene	affects cotreatment, increases expression, increases oxidation, increases abundance	1
bisphenol A	increases expression	1
trichostatin A	affects expression	1
beta-lapachone	increases expression	1
1-hydroxypyrene	decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases oxidation, increases abundance	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
bisphenol S	increases expression	1
LDN 193189	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Acrolein	affects cotreatment, increases expression, increases oxidation, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	increases abundance, increases expression	1
Atrazine	increases expression	1
Benzene	increases expression	1
Caffeine	affects phosphorylation	1
Ivermectin	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_XL43	HAP1 ARFGAP2 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00879060	PHASE4	COMPLETED	Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy
NCT01721967	PHASE4	COMPLETED	Ranolazine for the Treatment of Chest Pain in HCM Patients
NCT02948998	PHASE4	UNKNOWN	Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy
NCT03249272	PHASE4	TERMINATED	Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve
NCT04133532	PHASE4	COMPLETED	Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy
NCT06401343	PHASE4	RECRUITING	Use of SGLT2i in noHCM With HFpEF
NCT07103655	PHASE4	NOT_YET_RECRUITING	The Therapeutic Value of Mavacamten in Hypertrophic Cardiomyopathy With Mid-to-Apical Left Ventricular Obstruction
NCT07600177	PHASE4	RECRUITING	Mavacamten to Aficamten Transition in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT00317967	PHASE3	COMPLETED	Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart
NCT00698074	PHASE3	UNKNOWN	Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy
NCT00821353	PHASE3	COMPLETED	Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy
NCT02431221	PHASE3	WITHDRAWN	Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure
NCT03470545	PHASE3	COMPLETED	Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT05174416	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mavacamten in Chinese Adults With Symptomatic Obstructive HCM
NCT05182658	PHASE3	ACTIVE_NOT_RECRUITING	Empagliflozin in Hypertrophic Cardiomyopathy
NCT05186818	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Placebo in Adults With Symptomatic oHCM
NCT05767346	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Metoprolol Succinate in Adults With Symptomatic oHCM
NCT06116968	PHASE3	COMPLETED	An Open-Label Study of Aficamten for Chinese Patients With Symptomatic oHCM
NCT06873828	PHASE3	NOT_YET_RECRUITING	Evaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter MonitoringEvaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter Monitoring
NCT07021976	PHASE3	RECRUITING	A Phase III Trial of HRS-1893 in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT07023341	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Learn More About How Well Aficamten Works in Japanese Participants With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT07202897	PHASE3	NOT_YET_RECRUITING	LA-HCM Study : Rivaroxaban for Antithrombotic Prevention in Hypertrophic Cardiomyopathy Patients With Abnormal Left Atrial Strain.
NCT00001631	PHASE2	COMPLETED	Study of Blood Flow in Heart Muscle
NCT00001894	PHASE2	COMPLETED	A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy
NCT00001960	PHASE2	COMPLETED	Studying the Effectiveness of Pacemaker Therapy in Children Who Have Thickened Heart Muscle
NCT00011076	PHASE2	COMPLETED	Pirfenidone to Treat Hypertrophic Cardiomyopathy
NCT00035386	PHASE2	COMPLETED	Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Study
NCT00430833	PHASE2	UNKNOWN	CHANCE - Candesartan in Hypertrophic Cardiomyopathy
NCT00500552	PHASE2	COMPLETED	Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy
NCT01150461	PHASE2	COMPLETED	Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy
NCT01230918	PHASE2	TERMINATED	Study to Develop a Non-invasive Marker for Monitoring Myocardial Fibrosis
NCT01447654	PHASE2	COMPLETED	Inhibition of the Renin Angiotensin System With Losartan in Patients With Hypertrophic Cardiomyopathy
NCT01696370	PHASE2	UNKNOWN	Trimetazidine Therapy in Hypertrophic Cardiomyopathy
NCT01912534	PHASE2	COMPLETED	Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM
NCT02590809	PHASE2	COMPLETED	Hypertrophic Cardiomyopathy Symptom Release by BX1514M
NCT03496168	PHASE2	COMPLETED	Extension Study of Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Previously Enrolled in PIONEER
NCT03532802	PHASE2	COMPLETED	The Effect of Metoprolol in Patients With Hypertrophic Obstructive Cardiomyopathy.
NCT03832660	PHASE2	COMPLETED	Sacubitril/Valsartan vs Lifestyle in Hypertrophic Cardiomyopathy
NCT04219826	PHASE2	COMPLETED	Dose-finding Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of CK-3773274 in Adults With Hypertrophic Cardiomyopathy
NCT04426578	PHASE2	UNKNOWN	Role of Perhexiline in Hypertrophic Cardiomyopathy