ASAP3

Summary

ASAP3 (ArfGAP with SH3 domain, ankyrin repeat and PH domain 3, HGNC:14987) is a protein-coding gene on chromosome 1p36.12, encoding Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 (Q8TDY4). Promotes cell proliferation.

This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55616 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 150 total
• MANE Select transcript: NM_017707

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14987
Approved symbol	ASAP3
Name	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3
Location	1p36.12
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20199, UPLC1, CENTB6
Ensembl gene	ENSG00000088280
Ensembl biotype	protein_coding
OMIM	616594
Entrez	55616

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 13 protein_coding, 5 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000336689, ENST00000437606, ENST00000449467, ENST00000465372, ENST00000475814, ENST00000478858, ENST00000484418, ENST00000492982, ENST00000495646, ENST00000530874, ENST00000608765, ENST00000711425, ENST00000711426, ENST00000711427, ENST00000857995, ENST00000857996, ENST00000857997, ENST00000931115, ENST00000948795, ENST00000948796, ENST00000948797

RefSeq mRNA: 2 — MANE Select: NM_017707 NM_001143778, NM_017707

CCDS: CCDS235, CCDS44087

Canonical transcript exons

ENST00000336689 — 25 exons

Exon	Start	End
ENSE00001362141	23428563	23429930
ENSE00001844250	23484005	23484179
ENSE00003467913	23433077	23433272
ENSE00003483085	23437130	23437320
ENSE00003492697	23434254	23434369
ENSE00003492732	23431035	23431125
ENSE00003496864	23441102	23441211
ENSE00003518474	23433626	23433693
ENSE00003533775	23456122	23456194
ENSE00003535431	23455881	23456026
ENSE00003536072	23434533	23434618
ENSE00003541802	23442186	23442271
ENSE00003549086	23433425	23433532
ENSE00003572774	23436560	23436654
ENSE00003609137	23452697	23452771
ENSE00003609752	23436911	23437044
ENSE00003614132	23442501	23442612
ENSE00003615423	23441655	23441730
ENSE00003627765	23439161	23439230
ENSE00003630209	23431696	23431918
ENSE00003648973	23437424	23437472
ENSE00003662257	23435851	23436028
ENSE00003663228	23438747	23438834
ENSE00003672177	23441387	23441473
ENSE00003788989	23451479	23451528

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 96.25.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.0638 / max 109.8969, expressed in 1318 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
10976	6.0638	1318

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right ovary	UBERON:0002118	96.25	gold quality
left ovary	UBERON:0002119	95.73	gold quality
ovary	UBERON:0000992	95.44	gold quality
skin of leg	UBERON:0001511	94.79	gold quality
zone of skin	UBERON:0000014	94.77	gold quality
skin of abdomen	UBERON:0001416	94.71	gold quality
sural nerve	UBERON:0015488	94.14	gold quality
apex of heart	UBERON:0002098	94.09	gold quality
right adrenal gland	UBERON:0001233	93.69	gold quality
lower esophagus mucosa	UBERON:0035834	93.55	gold quality
right adrenal gland cortex	UBERON:0035827	93.46	gold quality
minor salivary gland	UBERON:0001830	93.20	gold quality
left adrenal gland cortex	UBERON:0035825	93.16	gold quality
mucosa of stomach	UBERON:0001199	93.14	gold quality
saliva-secreting gland	UBERON:0001044	93.03	gold quality
tibial nerve	UBERON:0001323	92.98	gold quality
left adrenal gland	UBERON:0001234	92.96	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.84	gold quality
vagina	UBERON:0000996	92.61	gold quality
adrenal gland	UBERON:0002369	92.30	gold quality
ectocervix	UBERON:0012249	92.26	gold quality
gastrocnemius	UBERON:0001388	92.14	gold quality
endocervix	UBERON:0000458	92.03	gold quality
left uterine tube	UBERON:0001303	91.98	gold quality
adrenal tissue	UBERON:0018303	91.95	gold quality
muscle of leg	UBERON:0001383	91.72	gold quality
skeletal muscle tissue	UBERON:0001134	91.56	gold quality
right lobe of thyroid gland	UBERON:0001119	91.51	gold quality
prostate gland	UBERON:0002367	91.49	gold quality
thyroid gland	UBERON:0002046	91.48	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

40 targeting ASAP3, 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-1252-5P	100.00	69.80	2774
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4460	99.37	68.52	615
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-3925-5P	99.21	67.90	1466
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-7702	99.06	65.95	698
HSA-MIR-4742-5P	98.89	68.41	1542
HSA-MIR-4764-5P	98.88	65.53	894
HSA-MIR-4451	98.82	68.17	1455
HSA-MIR-501-5P	98.77	68.88	1328
HSA-MIR-1227-5P	98.65	65.32	1549
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-550A-3P	98.37	69.61	632
HSA-MIR-6842-3P	98.07	66.33	1325
HSA-MIR-6801-3P	98.04	64.64	805
HSA-MIR-6810-3P	97.96	64.57	1023
HSA-MIR-5007-5P	97.95	64.71	614
HSA-MIR-8089	97.74	66.21	1698

Literature-anchored findings (GeneRIF, showing 11)

• ACAP4 is involved in ARF6-mediated cell migration. (PMID:16737952)
• ASAP3 functions nonredundantly with ASAP1 to control cell movement and may have a role in cancer cell invasion. (PMID:18400762)
• The ArfGAP catalytic mechanism and shows a glutamine from Arf6 and an arginine fingerASAP3 as the important catalytic residues; unexpectedly the structure shows a calcium ion, liganded by both proteins in the complex interface. (PMID:20510928)
• ACAP4 protein cooperates with Grb2 protein to orchestrate epidermal growth factor-stimulated integrin beta1 recycling in cell migration (PMID:22027826)
• Phosphorylation of the N-terminal region of ACAP4 (named the Bin, Amphiphysin, and RSV161/167[BAR] domain at Tyr34) is necessary for epidermal growth factor (EGF)-elicited membrane remodeling. (PMID:23776207)
• ). These data indicate that ASAP3 is elevated in NSCLC and may contribute to cancer development and patients’ poor clinical outcome, which is possibly due to its critical roles in regulating cancer invasion. (PMID:24078447)
• The data, for the first time, link ASAP3 with ACTG1 in the regulation of cytoskeletal maintenance and cell motility (PMID:24284654)
• Results show that ASAP3 was amplified in colorectal cancer (CRC) tissues, and its upregulation was associated with poor prognosis of patients with CRC. Also, it promoted growth of colon tumors, and accelerated cell invasion and migration through its binding to NEMO. These results suggest that ASAP3 acts as an oncogene. (PMID:28502111)
• ARF6 GTPase-activating protein ACAP4 regulates CCL18-elicited breast cancer cell migration via the acetyltransferase PCAF-mediated acetylation. CCL18 stimulation elicited breast cancer cell migration and invasion via PCAF-dependent acetylation. (PMID:30395269)
• MiR-143-3p acts as an anti-oncogene by downregulating ITGA6/ASAP3 protein expression and could offer new insight into potential therapeutic targets for CRC. (PMID:30536996)
• ACAP4 physically interacts with CrkII. Functional characterization showed that the interaction is required for the recruitment of ACAP4 to the plasma membrane where ACAP4 functions to regulate the recycling of the signal transducer integrin beta1. (PMID:31182282)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Asap3	ENSMUSG00000036995
rattus_norvegicus	Asap3	ENSRNOG00000049714

Paralogs (28): ARAP2 (ENSG00000047365), ACAP1 (ENSG00000072818), SMAP2 (ENSG00000084070), 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), 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

Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 — Q8TDY4 (reviewed: Q8TDY4)

Alternative names: Development and differentiation-enhancing factor-like 1, Protein up-regulated in liver cancer 1

All UniProt accessions (9): Q8TDY4, A0AAA9YHE6, A0AAA9YHL1, A0AAA9YHX1, E9PS98, H0YE36, H0YEB0, H0YER8, V9GY49

UniProt curated annotations — full annotation on UniProt →

Function. Promotes cell proliferation.

Subcellular location. Cytoplasm.

Tissue specificity. Highly expressed in primary hepatocarcinoma. Detected in lung, liver and blood leukocytes.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8TDY4-1	1	yes
Q8TDY4-2	2
Q8TDY4-3	3

RefSeq proteins (2): NP_001137250, NP_060177* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001164	ArfGAP_dom	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
IPR028775	BAR_ASAP3	Domain
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
IPR047006	ASAP3_ArfGap	Domain

Pfam: PF00169, PF01412, PF12796, PF16746

UniProt features (47 total): helix 14, turn 7, strand 6, sequence conflict 4, compositionally biased region 3, domain 2, splice variant 2, sequence variant 2, repeat 2, coiled-coil region 2, chain 1, zinc finger region 1, region of interest 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
2B0O	X-RAY DIFFRACTION	2.06
9JIH	X-RAY DIFFRACTION	2.8
3LVQ	X-RAY DIFFRACTION	3.38
3LVR	X-RAY DIFFRACTION	3.38

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TDY4-F1	74.62	0.48

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 101 (showing top): GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOCC_RUFFLE, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, CHANDRAN_METASTASIS_DN, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, DOANE_RESPONSE_TO_ANDROGEN_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_ACTOMYOSIN_STRUCTURE_ORGANIZATION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY

GO Biological Process (3): cell migration (GO:0016477), positive regulation of GTPase activity (GO:0043547), regulation of stress fiber assembly (GO:0051492)

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

GO Cellular Component (5): ruffle (GO:0001726), nucleoplasm (GO:0005654), cytosol (GO:0005829), focal adhesion (GO:0005925), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
GTPase activity	2
cell motility	1
regulation of GTPase activity	1
positive regulation of hydrolase activity	1
regulation of actin filament bundle assembly	1
stress fiber assembly	1
regulation of actomyosin structure organization	1
enzyme activator activity	1
GTPase regulator activity	1
transition metal ion binding	1
binding	1
cation binding	1
cell leading edge	1
plasma membrane bounded cell projection	1
nuclear lumen	1
cytoplasm	1
cell-substrate junction	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

682 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASAP3	ARF6	P26438	911
ASAP3	ARAP2	Q8WZ64	453
ASAP3	TMEM276	P0DTL5	435
ASAP3	GIT1	Q9Y2X7	425
ASAP3	GIT2	Q14161	411
ASAP3	ARF5	P26437	410
ASAP3	TULP3	O75386	404
ASAP3	STK26	Q9P289	397
ASAP3	RASA1	P20936	380
ASAP3	ARF4	P18085	350
ASAP3	ANK1	P16157	337
ASAP3	ARF1	P10947	336
ASAP3	AMPH	P49418	328
ASAP3	MATCAP1	Q68EN5	320
ASAP3	CIBAR2	Q6ZTR7	318

IntAct

38 interactions, top by confidence:

A	B	Type	Score
BACH1	MAFG	psi-mi:“MI:0914”(association)	0.870
CRK	ASAP3	psi-mi:“MI:0915”(physical association)	0.770
REL	ASAP3	psi-mi:“MI:0915”(physical association)	0.560
UBE3A	ASAP3	psi-mi:“MI:0915”(physical association)	0.560
ASAP3	TFCP2	psi-mi:“MI:0915”(physical association)	0.560
ASAP3	NHERF4	psi-mi:“MI:0915”(physical association)	0.560
ASAP3	REL	psi-mi:“MI:0915”(physical association)	0.560
TFCP2	ASAP3	psi-mi:“MI:0915”(physical association)	0.560
NHERF4	ASAP3	psi-mi:“MI:0915”(physical association)	0.560
ASAP3	UBE3A	psi-mi:“MI:0915”(physical association)	0.560
ASAP3	TEPSIN	psi-mi:“MI:0915”(physical association)	0.560
TCF4	ASAP3	psi-mi:“MI:0915”(physical association)	0.560
CRK	ARHGAP42	psi-mi:“MI:0914”(association)	0.530
MYORG	HSPA5	psi-mi:“MI:0914”(association)	0.530
GRB2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.530
CRK	BCR/ABL fusion	psi-mi:“MI:0914”(association)	0.460
GOLGA2	ASAP3	psi-mi:“MI:0915”(physical association)	0.400
ASAP3	ASAP2	psi-mi:“MI:0914”(association)	0.350
	ARHGAP32	psi-mi:“MI:2364”(proximity)	0.270
ASAP3	MTNR1A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (38): ASAP3 (Two-hybrid), ASAP3 (Two-hybrid), ASAP3 (Two-hybrid), PDZD3 (Two-hybrid), RAB11FIP3 (Affinity Capture-Western), ASAP3 (Affinity Capture-MS), ASAP1 (Affinity Capture-MS), ASAP2 (Affinity Capture-MS), HSPA1A (Affinity Capture-MS), ASAP3 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS), ASAP3 (Affinity Capture-MS), ELP2 (Affinity Capture-MS), ASAP3 (Affinity Capture-MS), ASAP3 (Two-hybrid)

ESM2 similar proteins: A0A1L8F1M4, A0A8M9QN10, A0JMQ9, A6NIR3, A8DZE6, A8WH69, B2KF05, F1QCY8, O43147, O43900, O54880, P0C6P5, P59729, P97433, Q13009, Q18PD9, Q2NKQ1, Q32L09, Q3U5C7, Q58D79, Q5EB20, Q5PQS0, Q5U464, Q60592, Q6IVY4, Q6P0Q8, Q6ZQF7, Q6ZUJ8, Q71QF9, Q768S4, Q7T2V3, Q7TNN8, Q7TSI1, Q7ZVP1, Q803A0, Q80U12, Q80VL3, Q80Y24, Q8BPQ7, Q8BRB7

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

3 interactions.

A	Effect	B	Mechanism
EGFR	“up-regulates activity”	ASAP3	phosphorylation
ASAP3	“up-regulates activity”	ARHGEF6	binding
STK26	“up-regulates activity”	ASAP3	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	112
Likely benign	7
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

4357 predictions. Top by Δscore:

Variant	Effect	Δscore
1:23431915:CGAT:C	acceptor_gain	1.0000
1:23431926:C:CT	acceptor_gain	1.0000
1:23431927:A:T	acceptor_gain	1.0000
1:23433156:A:AC	donor_gain	1.0000
1:23433157:C:CC	donor_gain	1.0000
1:23433157:CT:C	donor_gain	1.0000
1:23433268:CAGCG:C	acceptor_gain	1.0000
1:23433269:AGCG:A	acceptor_gain	1.0000
1:23433271:CG:C	acceptor_gain	1.0000
1:23433271:CGCTG:C	acceptor_loss	1.0000
1:23433273:C:CC	acceptor_gain	1.0000
1:23433274:T:A	acceptor_loss	1.0000
1:23433277:C:CT	acceptor_gain	1.0000
1:23433381:T:A	donor_gain	1.0000
1:23433420:CCCA:C	donor_loss	1.0000
1:23433421:CCA:C	donor_loss	1.0000
1:23433422:CAC:C	donor_loss	1.0000
1:23433423:AC:A	donor_loss	1.0000
1:23433424:C:A	donor_loss	1.0000
1:23433432:T:TA	donor_gain	1.0000
1:23433533:C:CC	acceptor_gain	1.0000
1:23433625:CCAG:C	donor_gain	1.0000
1:23433635:ACACT:A	donor_gain	1.0000
1:23433636:CACTC:C	donor_gain	1.0000
1:23433694:C:CC	acceptor_gain	1.0000
1:23434250:CCACC:C	donor_loss	1.0000
1:23434251:CACCT:C	donor_loss	1.0000
1:23434252:A:AT	donor_loss	1.0000
1:23434272:T:A	donor_gain	1.0000
1:23434273:C:CA	donor_gain	1.0000

AlphaMissense

5911 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:23441113:C:A	K311N	1.000
1:23441113:C:G	K311N	1.000
1:23437317:C:A	W385C	0.999
1:23437317:C:G	W385C	0.999
1:23437319:A:G	W385R	0.999
1:23437319:A:T	W385R	0.999
1:23437454:A:G	F374S	0.999
1:23438755:A:G	L365P	0.999
1:23439180:A:G	L332P	0.999
1:23439206:C:A	R323S	0.999
1:23439206:C:G	R323S	0.999
1:23441115:T:C	K311E	0.999
1:23437034:C:A	W451C	0.998
1:23437034:C:G	W451C	0.998
1:23437036:A:G	W451R	0.998
1:23437036:A:T	W451R	0.998
1:23437461:A:C	Y372D	0.998
1:23438761:A:G	F363S	0.998
1:23439174:A:T	I334N	0.998
1:23439202:A:G	C325R	0.998
1:23439207:C:G	R323T	0.998
1:23439217:A:G	W320R	0.998
1:23439217:A:T	W320R	0.998
1:23441120:A:T	L309Q	0.998
1:23455882:A:G	L116P	0.998
1:23436981:C:G	R469P	0.997
1:23437028:G:C	S453R	0.997
1:23437028:G:T	S453R	0.997
1:23437030:T:G	S453R	0.997
1:23437306:A:G	L389S	0.997

dbSNP variants (sampled 300 via entrez): RS1000007349 (1:23432701 G>A,C), RS1000163560 (1:23447136 G>A), RS1000186503 (1:23452259 C>T), RS1000210765 (1:23455016 GGAGCCACAA>G), RS1000263619 (1:23485608 G>A), RS1000277326 (1:23439932 A>G), RS1000328262 (1:23458230 C>T), RS1000354713 (1:23473038 C>G), RS1000364729 (1:23457824 ATTCT>A), RS1000370553 (1:23454260 C>T), RS1000387982 (1:23446916 G>A), RS1000525593 (1:23461010 A>G), RS1000538570 (1:23446276 A>C), RS1000640270 (1:23461381 A>G), RS1000644314 (1:23444470 G>T)

Disease associations

OMIM: gene MIM:616594 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002221_10	Cholesterol, total	6.000000e-09
GCST004235_53	Total cholesterol levels	1.000000e-07
GCST010244_164	Triglyceride levels	3.000000e-11
GCST010245_18	LDL cholesterol levels	2.000000e-09
GCST90013407_194	Liver enzyme levels (gamma-glutamyl transferase)	1.000000e-27
GCST90026414_2	Severe insulin-resistant type 2 diabetes	5.000000e-07

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004574	total cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004532	serum gamma-glutamyl transferase measurement

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
Valproic Acid	affects cotreatment, increases expression, increases methylation	3
bisphenol A	increases expression, affects cotreatment, increases methylation	2
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
entinostat	increases expression, affects cotreatment	2
Arsenic	affects cotreatment, decreases expression, increases abundance	2
Tobacco Smoke Pollution	decreases expression	2
aristolochic acid I	increases expression	1
sodium arsenate	decreases expression, increases abundance	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	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
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Arbutin	decreases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Caffeine	decreases phosphorylation	1
Catechin	affects cotreatment, decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Rotenone	decreases expression	1
Selenium	increases expression	1
T-2 Toxin	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D8ZI	Ubigene HEK293 ASAP3 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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