ACAP1

Summary

ACAP1 (ArfGAP with coiled-coil, ankyrin repeat and PH domains 1, HGNC:16467) is a protein-coding gene on chromosome 17p13.1, encoding Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 (Q15027). GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) required for clathrin-dependent export of proteins from recycling endosomes to trans-Golgi network and cell surface.

Predicted to enable GTPase activator activity and zinc ion binding activity. Predicted to be involved in protein transport. Located in membrane.

Source: NCBI Gene 9744 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 124 total — 2 pathogenic
• MANE Select transcript: NM_014716

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16467
Approved symbol	ACAP1
Name	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0050
Ensembl gene	ENSG00000072818
Ensembl biotype	protein_coding
OMIM	607763
Entrez	9744

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 11 protein_coding, 6 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000158762, ENST00000570439, ENST00000570457, ENST00000570504, ENST00000571220, ENST00000571471, ENST00000573893, ENST00000574499, ENST00000575415, ENST00000575425, ENST00000576594, ENST00000576628, ENST00000911038, ENST00000911039, ENST00000911040, ENST00000911041, ENST00000911042, ENST00000915459, ENST00000915460, ENST00000915461

RefSeq mRNA: 1 — MANE Select: NM_014716 NM_014716

CCDS: CCDS11101

Canonical transcript exons

ENST00000158762 — 22 exons

Exon	Start	End
ENSE00000682005	7350127	7350237
ENSE00001117787	7336529	7336787
ENSE00001268220	7349945	7350054
ENSE00001268230	7348995	7349167
ENSE00001268237	7348306	7348475
ENSE00001268244	7348127	7348221
ENSE00001268255	7347031	7347242
ENSE00001268261	7346808	7346931
ENSE00001268266	7346391	7346491
ENSE00001268273	7346244	7346295
ENSE00001268283	7344539	7344648
ENSE00001268341	7351295	7351477
ENSE00003506774	7350950	7350999
ENSE00003530911	7347922	7347991
ENSE00003531843	7342416	7342474
ENSE00003551096	7342275	7342328
ENSE00003614546	7341948	7342067
ENSE00003617471	7337312	7337369
ENSE00003618121	7344049	7344123
ENSE00003630733	7343379	7343562
ENSE00003645778	7343861	7343956
ENSE00003694551	7343706	7343750

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.3882 / max 220.2168, expressed in 997 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
159146	8.9039	510
159148	0.5436	110
159151	0.5212	321
159147	0.3250	137
159150	0.0635	12
159152	0.0235	9
159149	0.0075	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	99.15	gold quality
blood	UBERON:0000178	98.66	gold quality
lymph node	UBERON:0000029	98.35	gold quality
spleen	UBERON:0002106	98.32	gold quality
bone marrow cell	CL:0002092	98.01	gold quality
left testis	UBERON:0004533	97.64	gold quality
right testis	UBERON:0004534	97.62	gold quality
bone marrow	UBERON:0002371	97.37	gold quality
vermiform appendix	UBERON:0001154	97.20	gold quality
testis	UBERON:0000473	95.86	gold quality
leukocyte	CL:0000738	92.99	gold quality
nucleus accumbens	UBERON:0001882	92.96	gold quality
pituitary gland	UBERON:0000007	92.88	gold quality
monocyte	CL:0000576	92.71	gold quality
adenohypophysis	UBERON:0002196	92.46	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.13	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.77	gold quality
sural nerve	UBERON:0015488	91.62	gold quality
small intestine	UBERON:0002108	91.50	gold quality
tonsil	UBERON:0002372	91.28	gold quality
right uterine tube	UBERON:0001302	91.10	gold quality
apex of heart	UBERON:0002098	90.37	gold quality
tibial nerve	UBERON:0001323	90.14	gold quality
upper lobe of left lung	UBERON:0008952	90.04	gold quality
left uterine tube	UBERON:0001303	89.52	gold quality
muscle of leg	UBERON:0001383	88.72	gold quality
hypothalamus	UBERON:0001898	88.68	gold quality
gastrocnemius	UBERON:0001388	88.56	gold quality
prostate gland	UBERON:0002367	88.47	gold quality
ectocervix	UBERON:0012249	88.39	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-10287	yes	39.41
E-MTAB-6678	yes	23.29
E-ANND-3	yes	16.25
E-MTAB-7606	no	375.91

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 14)

• Centaurin beta1/KIAA0050, is a member of the centaurin family of ADP-ribosylation factor directed GTPase-activating proteins. Binding of phosphoinositides to a pleckstrin homology domain may regulate subcellular localisation and activity. (PMID:11050434)
• Centaurin beta1/KIAA0050, or ACAP1, is a phospholipid dependent, ARF6 preferring GTPase-activating protein. It can regulate cytoskeletal and membrane trafficking events in the cell periphery and may be regulated via a phosphoinositide-binding PH domain. (PMID:11062263)
• ACAP1 promotes endocytic recycling by recognizing recycling sorting signals. (PMID:15525538)
• CENTB1 selectively down-regulates NF-kappaB activation via NODs pathways, creating a “feedback” loop and suggesting a novel role of CENTB1 in innate immune responses to bacteria and inflammatory responses (PMID:17005562)
• Results suggest that two ARF6 downstream molecules, PIP5K and ACAP1, function together in endosomal tubulation and that phosphoinositide levels may regulate endosomal dynamics. (PMID:17010122)
• Results suggest that ACAP1, a GTPase-activating protein (GAP) for ADP-ribosylation factor (ARF) 6, is part of a novel clathrin coat complex that is regulated by ARF6 for endocytic recycling in two key physiological settings. (PMID:17664335)
• ACAP1 has robust, constitutive Arf6 GAP activity in vivo, with little activity toward Arf1. (PMID:18003747)
• the oncogenic potential of USP6 is linked to its ability to integrate cell migration and cytokinesis by regulating Arf6/ACAP1. (PMID:22188517)
• phosphorylation of ACAP1 relieves a localized mechanism of autoinhibition in regulating cargo binding (PMID:22645133)
• CENTB1 was up-regulated in patients with active UC as compared to UC remission and healthy control groups suggesting that it is involved in the inflammatory process. (PMID:23317930)
• ACAP1 and ARAP2 each colocalize with Arf6 but they did not colocalize with each other and have opposing effects on focal adhesions. (PMID:25225293)
• The serum lever of Alzheimer’s disease were decrease and the expression of ACAP1 strongly correlated with the Mini-Mental State Examination scores of the AD patients (PMID:25502766)
• As ACAP1 is an unconventional BAR protein, our findings broaden the understanding of the mechanistic spectrum by which proteins assemble into higher-ordered structures to achieve membrane deformation (PMID:31291238)
• Expression of ACAP1 Is Associated with Tumor Immune Infiltration and Clinical Outcome of Ovarian Cancer. (PMID:32456571)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	acap1	ENSDARG00000056346
mus_musculus	Acap1	ENSMUSG00000001588
rattus_norvegicus	Acap1	ENSRNOG00000015674

Paralogs (28): ARAP2 (ENSG00000047365), 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), 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 coiled-coil, ANK repeat and PH domain-containing protein 1 — Q15027 (reviewed: Q15027)

Alternative names: Centaurin-beta-1

All UniProt accessions (3): Q15027, I3L0K9, I3L268

UniProt curated annotations — full annotation on UniProt →

Function. GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) required for clathrin-dependent export of proteins from recycling endosomes to trans-Golgi network and cell surface. Required for regulated export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration.

Subunit / interactions. Banana-shaped homodimer laterally assembling into tetramers, the tetramers further pack helically onto the membrane. Interacts with GTP-bound ARF6. Interacts with third cytoplasmic loop of SLC2A4/GLUT4. Interacts with CLTC. Interacts with GULP1. Forms a complex with GDP-bound ARF6 and GULP1. Interacts with ITGB1; required for ITGB1 recycling.

Subcellular location. Recycling endosome membrane.

Tissue specificity. Highest level in lung and spleen. Low level in heart, kidney, liver and pancreas.

Post-translational modifications. Phosphorylation at Ser-554 by PKB is required for interaction with ITGB1, export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration.

Activity regulation. GAP activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidic acid.

Domain organisation. PH domain binds phospholipids including phosphatidic acid, phosphatidylinositol 3-phosphate, phosphatidylinositol 3,5-bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate (PIP3). May mediate ACAP1-binding to PIP2 or PIP3 containing membranes. Only one PH domain of one ACAP1 dimer inserts into the membrane, while the other PH domain acts primaryly to interact with adjacent ACAP1 dimers. The BAR domain mediates homodimerization, it can neither bind membrane nor impart curvature, but instead requires the neighboring PH domain to achieve these functions.

Miscellaneous. Cells overexpressing ACAP1 show an accumulation of ITGB1 in recycling endosomes and inhibition of stimulation-dependent cell migration. Cells with reduced levels of ACAP1 or AKT1 and AKT2 show inhibition of stimulation-dependent cell migration. Cells overexpressing ACAP1 and PIP5K1C show formation of tubular structures derived from endosomal membranes.

RefSeq proteins (1): NP_055531* (*=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
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR037278	ARFGAP/RecO	Homologous_superfamily
IPR038508	ArfGAP_dom_sf	Homologous_superfamily
IPR045258	ACAP1/2/3-like	Family

Pfam: PF00169, PF01412, PF12796, PF16746

UniProt features (85 total): helix 23, mutagenesis site 19, strand 16, turn 8, region of interest 4, sequence variant 4, domain 3, repeat 3, modified residue 2, chain 1, compositionally biased region 1, zinc finger region 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
4NSW	X-RAY DIFFRACTION	2.2
3JUE	X-RAY DIFFRACTION	2.3
3T9K	X-RAY DIFFRACTION	2.3
4F1P	X-RAY DIFFRACTION	2.3
5H3D	ELECTRON MICROSCOPY	14
4CKG	ELECTRON MICROSCOPY	15
4CKH	ELECTRON MICROSCOPY	17

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15027-F1	84.92	0.66

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 (2): 485, 554

Mutagenesis-validated functional residues (19):

Position	Phenotype
14	no effect on interaction with itgb1.
29	no effect on interaction with itgb1.
274	loss of binding to pip2 and pip3. loss of association with endosomal tubules when coexpressed with pip5k1c.
277	no effect on interaction with itgb1.
280	reduced membrane binding and ability to induce liposome tubulation.
280	almost abolishes membrane binding.
280	preserves membrane binding and ability to tubulate liposomes.
289	no effect on interaction with itgb1.
358	no effect on interaction with itgb1.
389	no effect on interaction with itgb1.
448	loss of gap activity. no effect on gulp1 binding or association with endosomal tubules when coexpressed with pip5k1c.
461	no effect on interaction with itgb1.
554	loss of phosphorylation by pkb, interaction with itgb1 and itgb1-dependent cell migration.
554	enhances interaction with itgb1.
568	no effect on interaction with itgb1.
711	no effect on interaction with itgb1.
712	no effect on interaction with itgb1.
724	loss of phosphorylation at s-554, interaction with itgb1 and itgb1-dependent cell migration.
724	enhances interaction with itgb1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 194 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, PEREZ_TP63_TARGETS, GCANCTGNY_MYOD_Q6, MODULE_45, MYOD_01, RYTTCCTG_ETS2_B, E12_Q6, KEGG_ENDOCYTOSIS, SCHLOSSER_SERUM_RESPONSE_UP, TGGAAA_NFAT_Q4_01, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, LIN_APC_TARGETS, SMID_BREAST_CANCER_LUMINAL_B_DN, GOCC_RECYCLING_ENDOSOME_MEMBRANE, GOCC_RECYCLING_ENDOSOME

GO Biological Process (1): protein transport (GO:0015031)

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): membrane (GO:0016020), recycling endosome membrane (GO:0055038), cytoplasm (GO:0005737), endosome (GO:0005768), endosome membrane (GO:0010008)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
transport	1
intracellular protein localization	1
establishment of protein localization	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
transition metal ion binding	1
binding	1
cation binding	1
endosome membrane	1
recycling endosome	1
intracellular anatomical structure	1
endomembrane system	1
cytoplasmic vesicle	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1

Protein interactions and networks

STRING

1040 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACAP1	ARF6	P26438	855
ACAP1	ARF5	P26437	814
ACAP1	ARF1	P10947	747
ACAP1	GULP1	Q9UBP9	678
ACAP1	ANK3	Q12955	626
ACAP1	PLEK2	Q9NYT0	616
ACAP1	PLEK	P08567	614
ACAP1	VAMP3	Q15836	591
ACAP1	PSD	A5PKW4	588
ACAP1	RASA1	P20936	580
ACAP1	AGFG2	O95081	577
ACAP1	SLC2A4	P14672	525
ACAP1	TFRC	P02786	508
ACAP1	LAMP1	P11279	477
ACAP1	ERBIN	Q96RT1	466

IntAct

42 interactions, top by confidence:

A	B	Type	Score
GRB2	ACAP1	psi-mi:“MI:0915”(physical association)	0.630
ACAP1	GRB2	psi-mi:“MI:0915”(physical association)	0.630
NEBL	ACAP1	psi-mi:“MI:0915”(physical association)	0.560
	ACAP1	psi-mi:“MI:0915”(physical association)	0.560
UQCRB	ACAP1	psi-mi:“MI:0915”(physical association)	0.560
FCHSD2	ACAP1	psi-mi:“MI:0915”(physical association)	0.560
PRKCA	ACAP1	psi-mi:“MI:0915”(physical association)	0.560
UQCRC2	ACAP1	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	ACAP1	psi-mi:“MI:0915”(physical association)	0.560
SETDB1	ACAP1	psi-mi:“MI:0915”(physical association)	0.560
KAT5	ACAP1	psi-mi:“MI:0915”(physical association)	0.560
LMO3	ACAP1	psi-mi:“MI:0915”(physical association)	0.560
RABGAP1L	ACAP1	psi-mi:“MI:0915”(physical association)	0.490
ABL1	ACAP1	psi-mi:“MI:0915”(physical association)	0.400
SRC	ACAP1	psi-mi:“MI:0915”(physical association)	0.400
NCK1	ACAP1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (22): ACAP1 (Affinity Capture-Western), ACAP1 (Reconstituted Complex), AKT1 (Affinity Capture-Western), ACAP1 (Biochemical Activity), IFFO1 (Two-hybrid), RAB11FIP3 (Affinity Capture-Western), ACAP1 (Two-hybrid), ACAP1 (Two-hybrid), ACAP1 (Affinity Capture-MS), ACAP1 (Reconstituted Complex), ARF6 (Affinity Capture-Western), ACAP1 (Affinity Capture-MS), NEBL (Two-hybrid), FCHSD2 (Two-hybrid), SH3RF1 (Two-hybrid)

ESM2 similar proteins: A5PK26, F8VPU2, O14526, O14976, O15068, O75064, O94887, P00530, P97874, P98150, P98171, Q00653, Q15027, Q15149, Q2HJE1, Q2KHV6, Q3TBD2, Q3U1Y4, Q4LDD4, Q5FVC7, Q5RB40, Q5RC07, Q5U464, Q5ZK62, Q61210, Q64096, Q6DE55, Q6IVG4, Q6P730, Q6ZQK5, Q6ZSZ5, Q8CFD4, Q8K285, Q8K2H4, Q8R5G7, Q8TDY4, Q8WWN8, Q91VS8, Q91ZR2, Q92619

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

2 interactions.

A	Effect	B	Mechanism
AKT	unknown	ACAP1	phosphorylation
AKT1	unknown	ACAP1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 17 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
Signaling by Rho GTPases	5	17.1×	2e-04
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	5	16.7×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	100
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	Pathogenic
2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	Pathogenic

SpliceAI

3138 predictions. Top by Δscore:

Variant	Effect	Δscore
17:7336788:G:GG	donor_gain	1.0000
17:7341946:A:AG	acceptor_gain	1.0000
17:7341946:A:G	acceptor_loss	1.0000
17:7341947:G:GT	acceptor_gain	1.0000
17:7341947:GCT:G	acceptor_gain	1.0000
17:7341947:GCTCC:G	acceptor_gain	1.0000
17:7342064:GGCG:G	donor_gain	1.0000
17:7342065:GCG:G	donor_gain	1.0000
17:7342065:GCGG:G	donor_gain	1.0000
17:7342067:GGTAT:G	donor_loss	1.0000
17:7342068:G:GG	donor_gain	1.0000
17:7342069:T:G	donor_loss	1.0000
17:7342268:T:A	acceptor_gain	1.0000
17:7342270:CCTA:C	acceptor_loss	1.0000
17:7342271:CTAG:C	acceptor_loss	1.0000
17:7342273:A:AG	acceptor_gain	1.0000
17:7342274:G:GA	acceptor_gain	1.0000
17:7342274:GGA:G	acceptor_gain	1.0000
17:7342274:GGAGT:G	acceptor_gain	1.0000
17:7342324:ATGCG:A	donor_gain	1.0000
17:7342325:TGCG:T	donor_gain	1.0000
17:7342326:GCG:G	donor_gain	1.0000
17:7342326:GCGG:G	donor_gain	1.0000
17:7342327:CG:C	donor_gain	1.0000
17:7342328:GG:G	donor_gain	1.0000
17:7342329:G:GG	donor_gain	1.0000
17:7342329:G:T	donor_loss	1.0000
17:7342330:TAA:T	donor_loss	1.0000
17:7343525:C:G	donor_gain	1.0000
17:7343696:A:AG	acceptor_gain	1.0000

AlphaMissense

4784 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:7344616:A:C	K274N	1.000
17:7344616:A:T	K274N	1.000
17:7344641:T:A	W283R	1.000
17:7344641:T:C	W283R	1.000
17:7346251:T:C	F288L	1.000
17:7346252:T:C	F288S	1.000
17:7346253:C:A	F288L	1.000
17:7346253:C:G	F288L	1.000
17:7347157:T:C	C420R	1.000
17:7347187:T:A	W430R	1.000
17:7347187:T:C	W430R	1.000
17:7347189:G:C	W430C	1.000
17:7347189:G:T	W430C	1.000
17:7347193:A:C	S432R	1.000
17:7347195:C:A	S432R	1.000
17:7347195:C:G	S432R	1.000
17:7347201:C:A	N434K	1.000
17:7347201:C:G	N434K	1.000
17:7347217:T:C	C440R	1.000
17:7347218:G:A	C440Y	1.000
17:7347219:C:G	C440W	1.000
17:7347226:T:A	C443S	1.000
17:7347226:T:C	C443R	1.000
17:7347227:G:C	C443S	1.000
17:7347242:G:C	R448T	1.000
17:7347242:G:T	R448M	1.000
17:7347922:G:C	R448S	1.000
17:7347922:G:T	R448S	1.000
17:7347971:T:A	W465R	1.000
17:7347971:T:C	W465R	1.000

dbSNP variants (sampled 300 via entrez): RS1000043020 (17:7348840 C>T), RS1000119126 (17:7338510 G>A), RS1000137406 (17:7348586 G>A,T), RS1000474112 (17:7347424 G>A), RS1000626784 (17:7348421 G>A,C), RS1000749294 (17:7342916 A>G), RS1001748153 (17:7341772 C>T), RS1001820162 (17:7341548 G>A,C), RS1002102705 (17:7334879 C>G), RS1002203197 (17:7339117 C>A,T), RS1002235839 (17:7339024 C>T), RS1002349489 (17:7351918 G>A), RS1002382333 (17:7350358 A>C,G,T), RS1002699272 (17:7336325 G>A), RS1002749498 (17:7340632 G>T)

Disease associations

OMIM: gene MIM:607763 | 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
GCST010571_66	Autoimmune thyroid disease	1.000000e-15
GCST011097_2	Systemic lupus erythematosus	1.000000e-08
GCST011956_106	Systemic lupus erythematosus	3.000000e-11
GCST90002394_511	Monocyte percentage of white cells	5.000000e-16
GCST90002398_261	Neutrophil count	7.000000e-18
GCST90002407_571	White blood cell count	1.000000e-20

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007989	monocyte percentage of leukocytes
EFO:0004833	neutrophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases methylation	2
triphenyl phosphate	affects expression	1
sodium arsenate	increases abundance, increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
entinostat	affects cotreatment, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
abrine	increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	increases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	decreases expression	1
Cytarabine	increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression	1
Nickel	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Antirheumatic Agents	affects expression	1
Copper Sulfate	increases expression	1
S-Nitrosoglutathione	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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