ASAP2

Summary

ASAP2 (ArfGAP with SH3 domain, ankyrin repeat and PH domain 2, HGNC:2721) is a protein-coding gene on chromosome 2p25.1, encoding Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 (O43150). Activates the small GTPases ARF1, ARF5 and ARF6.

This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 8853 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 183 total
• MANE Select transcript: NM_003887

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2721
Approved symbol	ASAP2
Name	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
Location	2p25.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0400, PAP, SHAG1, CENTB3
Ensembl gene	ENSG00000151693
Ensembl biotype	protein_coding
OMIM	603817
Entrez	8853

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000281419, ENST00000315273, ENST00000471687, ENST00000484590, ENST00000491413, ENST00000641030, ENST00000865541, ENST00000865542, ENST00000938589, ENST00000938590

RefSeq mRNA: 2 — MANE Select: NM_003887 NM_001135191, NM_003887

CCDS: CCDS1661, CCDS46224

Canonical transcript exons

ENST00000281419 — 28 exons

Exon	Start	End
ENSE00001001187	9380741	9380808
ENSE00001001188	9344731	9344800
ENSE00001001189	9376908	9376993
ENSE00001001190	9356179	9356345
ENSE00001001191	9320288	9320337
ENSE00001001195	9391062	9391196
ENSE00001001196	9334738	9334813
ENSE00001001197	9318524	9318598
ENSE00001001198	9358756	9358889
ENSE00001001200	9327826	9327911
ENSE00001001202	9368425	9368519
ENSE00001001204	9297300	9297445
ENSE00001001206	9378944	9379059
ENSE00001001208	9374755	9374944
ENSE00001001210	9323121	9323250
ENSE00001001211	9350808	9350895
ENSE00001001212	9385245	9385358
ENSE00001001213	9279317	9279389
ENSE00001070568	9335093	9335179
ENSE00001070573	9344532	9344635
ENSE00001870668	9403253	9405678
ENSE00003487277	9400023	9400072
ENSE00003510253	9400742	9400830
ENSE00003510547	9393482	9393647
ENSE00003531223	9356047	9356095
ENSE00003598933	9401274	9401396
ENSE00003626269	9388294	9388546
ENSE00003850277	9206812	9207230

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 97.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.3530 / max 339.7933, expressed in 1676 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
18739	16.5446	1648
18740	6.4783	1493
18741	1.1471	765
18742	0.6041	371
18738	0.3234	153
18737	0.1733	38
18736	0.0822	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	97.31	gold quality
sperm	CL:0000019	97.21	gold quality
synovial joint	UBERON:0002217	96.72	gold quality
male germ cell	CL:0000015	95.33	gold quality
renal medulla	UBERON:0000362	94.89	gold quality
oocyte	CL:0000023	94.54	gold quality
amniotic fluid	UBERON:0000173	94.34	gold quality
cartilage tissue	UBERON:0002418	94.16	gold quality
buccal mucosa cell	CL:0002336	93.81	gold quality
adult organism	UBERON:0007023	93.71	gold quality
blood vessel layer	UBERON:0004797	93.34	gold quality
skin of hip	UBERON:0001554	93.31	gold quality
colonic mucosa	UBERON:0000317	93.04	gold quality
mucosa of sigmoid colon	UBERON:0004993	93.04	gold quality
choroid plexus epithelium	UBERON:0003911	93.01	gold quality
calcaneal tendon	UBERON:0003701	92.79	gold quality
urethra	UBERON:0000057	92.13	gold quality
nephron tubule	UBERON:0001231	92.02	gold quality
saphenous vein	UBERON:0007318	91.88	gold quality
upper leg skin	UBERON:0004262	91.80	gold quality
sural nerve	UBERON:0015488	91.08	gold quality
tibia	UBERON:0000979	90.94	gold quality
colonic epithelium	UBERON:0000397	90.79	gold quality
layer of synovial tissue	UBERON:0007616	90.48	gold quality
oviduct epithelium	UBERON:0004804	90.47	gold quality
corpus epididymis	UBERON:0004359	90.45	gold quality
ganglionic eminence	UBERON:0004023	90.38	gold quality
upper arm skin	UBERON:0004263	90.34	gold quality
caput epididymis	UBERON:0004358	90.30	gold quality
parietal pleura	UBERON:0002400	90.21	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	41.42
E-ANND-3	yes	4.91

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTCF, VDR

miRNA regulators (miRDB)

170 targeting ASAP2, 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-3924	100.00	72.09	2394
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4682	100.00	68.89	1258
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-433-3P	99.98	69.37	1203
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-485-3P	99.98	70.68	1585

Literature-anchored findings (GeneRIF, showing 2)

• regulates multiple cytokine and growth factor-activated signaling pathways by acting as a recruitment factor for adapter proteins (PMID:15231847)
• The novel driver gene ASAP2 is a potential druggable target in pancreatic cancer. (PMID:33605496)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	asap2a	ENSDARG00000010181
mus_musculus	Asap2	ENSMUSG00000052632
rattus_norvegicus	Asap2	ENSRNOG00000061519

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), ARFGAP2 (ENSG00000149182), 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

Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 — O43150 (reviewed: O43150)

Alternative names: Development and differentiation-enhancing factor 2, Paxillin-associated protein with ARF GAP activity 3, Pyk2 C-terminus-associated protein

All UniProt accessions (2): O43150, A0A286YFG8

UniProt curated annotations — full annotation on UniProt →

Function. Activates the small GTPases ARF1, ARF5 and ARF6. Regulates the formation of post-Golgi vesicles and modulates constitutive secretion. Modulates phagocytosis mediated by Fc gamma receptor and ARF6. Modulates PXN recruitment to focal contacts and cell migration.

Subunit / interactions. Binds PXN, ARF1, ARF5, ARF6, PTK2B and SRC.

Subcellular location. Cytoplasm. Golgi apparatus. Golgi stack membrane. Cell membrane.

Tissue specificity. Detected in heart, brain, placenta, kidney, monocytes and pancreas.

Post-translational modifications. Phosphorylated on tyrosine residues by SRC and PTK2B.

Domain organisation. The conserved Arg-464 in the Arf-GAP domain probably becomes part of the active site of bound small GTPases and is necessary for GTP hydrolysis.

Induction. Up-regulated during monocytic maturation.

Isoforms (2)

UniProt ID	Names	Canonical?
O43150-1	1, PAPalpha	yes
O43150-2	2, PAPbeta

RefSeq proteins (2): NP_001128663, NP_003878* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001164	ArfGAP_dom	Domain
IPR001452	SH3_domain	Domain
IPR001849	PH_domain	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR004148	BAR_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR035677	ASAP2_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR037278	ARFGAP/RecO	Homologous_superfamily
IPR037844	PH_ASAP	Domain
IPR038508	ArfGAP_dom_sf	Homologous_superfamily
IPR043593	ASAP	Family

Pfam: PF00169, PF01412, PF12796, PF14604, PF16746

UniProt features (21 total): domain 3, compositionally biased region 3, modified residue 3, region of interest 3, coiled-coil region 2, repeat 2, chain 1, splice variant 1, sequence variant 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43150-F1	75.71	0.52

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): 701, 822, 903

Mutagenesis-validated functional residues (1):

Position	Phenotype
436	loss of arf-gap activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 223 (showing top): chr2p25, TGCACTT_MIR519C_MIR519B_MIR519A, ATACCTC_MIR202, BILD_SRC_ONCOGENIC_SIGNATURE, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_DN, CTAGGAA_MIR384, ONKEN_UVEAL_MELANOMA_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, CAIRO_HEPATOBLASTOMA_UP, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, MODULE_98, LEF1_Q6, KEGG_ENDOCYTOSIS, GCM_CALM1, GTATGAT_MIR154_MIR487

GO Biological Process (1): positive regulation of GTPase activity (GO:0043547)

GO Molecular Function (4): GTPase activator activity (GO:0005096), metal ion binding (GO:0046872), protein binding (GO:0005515), zinc ion binding (GO:0008270)

GO Cellular Component (6): cytosol (GO:0005829), plasma membrane (GO:0005886), Golgi cisterna membrane (GO:0032580), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
GTPase activity	2
cytoplasm	2
regulation of GTPase activity	1
positive regulation of hydrolase activity	1
enzyme activator activity	1
GTPase regulator activity	1
cation binding	1
binding	1
transition metal ion binding	1
membrane	1
cell periphery	1
organelle membrane	1
Golgi cisterna	1
intracellular anatomical structure	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

910 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASAP2	PXN	P49023	779
ASAP2	PTK2B	Q14289	777
ASAP2	ARF5	P26437	734
ASAP2	PAPOLB	Q9NRJ5	717
ASAP2	ARF6	P26438	665
ASAP2	ARF1	P10947	605
ASAP2	ANK2	Q01484	515
ASAP2	ANK1	P16157	511
ASAP2	RASA1	P20936	509
ASAP2	AGFG2	O95081	461
ASAP2	ICA1	P78506	445
ASAP2	ZDHHC6	Q9H6R6	434
ASAP2	ASB7	Q9H672	426
ASAP2	SELENOK	Q9Y6D0	420
ASAP2	PLEK2	Q9NYT0	416

IntAct

45 interactions, top by confidence:

A	B	Type	Score
GRB2	ASAP2	psi-mi:“MI:0915”(physical association)	0.750
GRB2	WIPF3	psi-mi:“MI:0914”(association)	0.730
ASAP2	SH3KBP1	psi-mi:“MI:0915”(physical association)	0.670
SH3KBP1	USP27X	psi-mi:“MI:0914”(association)	0.640
NCK2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.640
apc	ASAP2	psi-mi:“MI:0915”(physical association)	0.610
apc	ASAP2	psi-mi:“MI:0407”(direct interaction)	0.610
PLCG1	ASAP2	psi-mi:“MI:0915”(physical association)	0.600
PLCG1	ASAP2	psi-mi:“MI:0407”(direct interaction)	0.600
ASAP2	PLCG1	psi-mi:“MI:0915”(physical association)	0.600
ASAP2		psi-mi:“MI:0915”(physical association)	0.560
	ASAP2	psi-mi:“MI:0915”(physical association)	0.560
NCK1	ASAP2	psi-mi:“MI:0915”(physical association)	0.560
GRB2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.530
NCK1	SH3PXD2B	psi-mi:“MI:0914”(association)	0.530
UBC	ASAP2	psi-mi:“MI:0915”(physical association)	0.520
ASAP2	UBC	psi-mi:“MI:0915”(physical association)	0.520
YES1	ASAP2	psi-mi:“MI:0407”(direct interaction)	0.440
ASAP2	VILL	psi-mi:“MI:0915”(physical association)	0.400
ASAP2	CRK	psi-mi:“MI:0915”(physical association)	0.400
ASAP2	SRC	psi-mi:“MI:0915”(physical association)	0.400
FYN	ASAP2	psi-mi:“MI:0915”(physical association)	0.400
PIK3R1	ASAP2	psi-mi:“MI:0915”(physical association)	0.400
ASAP2	H1-1	psi-mi:“MI:0915”(physical association)	0.400
ASAP2	H1-5	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (54): SH3KBP1 (Two-hybrid), ASAP2 (Affinity Capture-MS), ASAP2 (Affinity Capture-MS), RAB11FIP3 (Affinity Capture-Western), ASAP2 (Affinity Capture-MS), ASAP2 (Affinity Capture-MS), ASAP2 (Affinity Capture-MS), ASAP2 (Affinity Capture-MS), ASAP2 (Affinity Capture-MS), ASAP2 (Affinity Capture-RNA), ASAP2 (Affinity Capture-MS), ASAP2 (Affinity Capture-MS), ASAP2 (Affinity Capture-MS), ASAP2 (Affinity Capture-RNA), ASAP2 (Reconstituted Complex)

ESM2 similar proteins: A0A3B6UES5, A0A3G2LGI8, F4HXZ1, G5EES6, O14134, O43150, O46037, O74749, O97592, P05095, P0CE94, P0CE95, P11532, P11533, P12003, P18206, P19826, P26039, P26234, P27619, P30427, P33338, P39055, P54939, P85972, P90947, Q02328, Q03001, Q04615, Q0WNJ6, Q17162, Q2QYW2, Q54K81, Q54MH2, Q5GN48, Q64727, Q71LX4, Q7SIG6, Q7XPJ0, Q8LPK4

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

4 interactions.

A	Effect	B	Mechanism
PTK2B	“up-regulates activity”	ASAP2	phosphorylation
ASAP2	“up-regulates activity”	ARF1	“gtpase-activating protein”
ASAP2	“up-regulates activity”	ARF6	“gtpase-activating protein”
ASAP2	“up-regulates activity”	ARF5	“gtpase-activating protein”

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
Regulation of signaling by CBL	6	135.4×	4e-10
Downstream signal transduction	7	121.1×	3e-11
Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants	5	118.0×	4e-08
Nephrin family interactions	5	108.1×	6e-08
Signaling by CSF1 (M-CSF) in myeloid cells	6	94.4×	3e-09
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	5	81.1×	2e-07
FCGR3A-mediated phagocytosis	8	68.1×	3e-11
RHOV GTPase cycle	5	64.9×	5e-07

GO biological processes:

GO term	Partners	Fold	FDR
ephrin receptor signaling pathway	6	71.2×	8e-08
cell migration	6	12.7×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	137
Likely benign	4
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

5945 predictions. Top by Δscore:

Variant	Effect	Δscore
2:9207228:G:GT	donor_gain	1.0000
2:9279311:TTTTA:T	acceptor_loss	1.0000
2:9279312:TTTA:T	acceptor_loss	1.0000
2:9279313:TTAGG:T	acceptor_loss	1.0000
2:9279314:TAG:T	acceptor_loss	1.0000
2:9279315:A:AG	acceptor_gain	1.0000
2:9279315:AGG:A	acceptor_loss	1.0000
2:9279316:G:GG	acceptor_gain	1.0000
2:9279385:GCTGG:G	donor_gain	1.0000
2:9279388:GG:G	donor_gain	1.0000
2:9279389:GG:G	donor_gain	1.0000
2:9279390:G:A	donor_loss	1.0000
2:9279390:G:GG	donor_gain	1.0000
2:9279391:TGAG:T	donor_loss	1.0000
2:9279392:G:GG	donor_loss	1.0000
2:9279393:AG:A	donor_loss	1.0000
2:9297294:TTGCA:T	acceptor_loss	1.0000
2:9297295:TGCA:T	acceptor_loss	1.0000
2:9297296:GCAG:G	acceptor_loss	1.0000
2:9297297:CAG:C	acceptor_loss	1.0000
2:9297298:A:AG	acceptor_gain	1.0000
2:9297298:AGCTC:A	acceptor_loss	1.0000
2:9297299:G:GA	acceptor_gain	1.0000
2:9297299:GCT:G	acceptor_gain	1.0000
2:9297299:GCTC:G	acceptor_gain	1.0000
2:9297384:G:GT	donor_gain	1.0000
2:9297442:CCTG:C	donor_gain	1.0000
2:9297443:CTGGT:C	donor_loss	1.0000
2:9297445:GGTAA:G	donor_loss	1.0000
2:9297446:G:GG	donor_gain	1.0000

AlphaMissense

6645 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:9207133:T:C	F10S	1.000
2:9207153:G:C	D17H	1.000
2:9279333:G:C	R48P	1.000
2:9279342:T:C	L51P	1.000
2:9279384:G:A	G65E	1.000
2:9297336:T:C	L79P	1.000
2:9297444:T:C	L115P	1.000
2:9318551:T:C	F125L	1.000
2:9318553:C:A	F125L	1.000
2:9318553:C:G	F125L	1.000
2:9318558:T:G	L127W	1.000
2:9323223:G:C	R191S	1.000
2:9323223:G:T	R191S	1.000
2:9323237:T:C	L196P	1.000
2:9327830:T:C	L202P	1.000
2:9327875:T:C	L217P	1.000
2:9327884:T:C	L220P	1.000
2:9334752:G:A	G234E	1.000
2:9334773:T:C	L241P	1.000
2:9334806:T:C	L252P	1.000
2:9344617:T:A	L312H	1.000
2:9344617:T:C	L312P	1.000
2:9344622:A:G	K314E	1.000
2:9344624:G:C	K314N	1.000
2:9344624:G:T	K314N	1.000
2:9344628:A:C	S316R	1.000
2:9344630:T:A	S316R	1.000
2:9344630:T:G	S316R	1.000
2:9344635:G:A	G318E	1.000
2:9344744:T:A	W323R	1.000

dbSNP variants (sampled 300 via entrez): RS1000006804 (2:9301199 C>T), RS1000013740 (2:9213891 G>C), RS1000033763 (2:9294720 G>A), RS1000038808 (2:9268537 G>A), RS1000047632 (2:9387716 G>A), RS1000054631 (2:9354690 A>G), RS1000076105 (2:9272778 T>C), RS1000084407 (2:9219899 C>A,T), RS1000103148 (2:9393760 C>T), RS1000107419 (2:9315083 C>T), RS1000111829 (2:9341327 A>G), RS1000127576 (2:9308414 C>T), RS1000153441 (2:9210042 G>A,C), RS1000154057 (2:9260451 A>G), RS1000173468 (2:9382130 C>G,T)

Disease associations

OMIM: gene MIM:603817 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST000269_8	Multiple sclerosis	9.000000e-06
GCST005537_151	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	9.000000e-10
GCST007096_20	Pulse pressure	7.000000e-09
GCST007097_99	Pulse pressure	3.000000e-06
GCST007269_63	Pulse pressure	7.000000e-10
GCST007692_112	Chronic obstructive pulmonary disease	2.000000e-10
GCST008103_69	Bipolar disorder	8.000000e-07
GCST008971_48	Urate levels	9.000000e-07
GCST008972_183	Urate levels	3.000000e-08
GCST90025872_3	Chronic widespread musculoskeletal pain	3.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0004531	urate measurement
EFO:0010099	chronic widespread pain

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects expression, affects methylation, decreases expression, decreases methylation, increases expression (+1 more)	6
Estradiol	affects expression, affects binding, decreases expression, affects cotreatment, increases expression	5
sodium arsenite	affects methylation, decreases expression, increases expression	3
bisphenol A	decreases methylation, increases expression, affects cotreatment, increases methylation	2
potassium chromate(VI)	affects cotreatment, decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Progesterone	affects cotreatment, decreases expression, increases expression	2
Smoke	decreases expression, increases abundance	2
Tetrachlorodibenzodioxin	decreases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Valproic Acid	increases expression, increases methylation	2
Cyclosporine	increases expression	2
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
uranyl acetate	affects expression	1
lead acetate	increases expression	1
trichostatin A	increases expression	1
arsenite	affects binding, decreases reaction	1
cobaltous chloride	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
cupric chloride	increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
bicalutamide	increases expression	1
chromium hexavalent ion	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
K 7174	increases expression	1
bisphenol AF	increases expression	1
Sunitinib	increases expression	1

Clinical trials (associated diseases)

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