DOCK10

Summary

DOCK10 (dedicator of cytokinesis 10, HGNC:23479) is a protein-coding gene on chromosome 2q36.2, encoding Dedicator of cytokinesis protein 10 (Q96BY6). Guanine nucleotide-exchange factor (GEF) that activates CDC42 and RAC1 by exchanging bound GDP for free GTP.

This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family are guanosine nucleotide exchange factors for Rho GTPases and defined by the presence of conserved DOCK-homology regions. The encoded protein belongs to the D (or Zizimin) subfamily of DOCK proteins, which also contain an N-terminal pleckstrin homology domain. Alternatively spliced transcript variants that encode different isoforms have been described.

Source: NCBI Gene 55619 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 324 total
• MANE Select transcript: NM_014689

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23479
Approved symbol	DOCK10
Name	dedicator of cytokinesis 10
Location	2q36.2
Locus type	gene with protein product
Status	Approved
Aliases	ZIZ3, KIAA0694
Ensembl gene	ENSG00000135905
Ensembl biotype	protein_coding
OMIM	611518
Entrez	55619

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 6 protein_coding, 5 retained_intron, 4 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000258390, ENST00000409592, ENST00000422684, ENST00000435582, ENST00000458608, ENST00000472652, ENST00000474102, ENST00000489831, ENST00000492251, ENST00000492369, ENST00000535663, ENST00000543715, ENST00000644695, ENST00000645028, ENST00000698070, ENST00000698071, ENST00000698072, ENST00000698073

RefSeq mRNA: 3 — MANE Select: NM_014689 NM_001290263, NM_001363762, NM_014689

CCDS: CCDS46528, CCDS74661, CCDS86925

Canonical transcript exons

ENST00000258390 — 56 exons

Exon	Start	End
ENSE00000786419	224789064	224789170
ENSE00000843736	224774905	224775115
ENSE00000843737	224778138	224778284
ENSE00000843738	224787022	224787135
ENSE00000843739	224787275	224787397
ENSE00000843743	224794879	224795094
ENSE00000922426	224773157	224773347
ENSE00000965242	224796316	224796426
ENSE00001333734	224797832	224797969
ENSE00001333772	224800151	224800263
ENSE00001363781	224796964	224797146
ENSE00002208051	224834150	224834263
ENSE00002218682	224844753	224844839
ENSE00002218929	224849507	224849599
ENSE00002242403	224841804	224841896
ENSE00002245600	224854963	224855042
ENSE00002273559	224852935	224853122
ENSE00002285599	224845519	224845642
ENSE00002309656	224839954	224840072
ENSE00002314129	224837762	224837831
ENSE00002317905	224856860	224856982
ENSE00002321669	224862664	224862746
ENSE00002324202	224852377	224852442
ENSE00002324429	224845203	224845324
ENSE00002435564	224804112	224804213
ENSE00002435758	224801916	224802040
ENSE00002437664	224814320	224814364
ENSE00002448723	224806126	224806237
ENSE00002452287	224819446	224819529
ENSE00002453136	224805206	224805320
ENSE00002465235	224804794	224804841
ENSE00002471600	224816617	224816713
ENSE00002474546	224805058	224805124
ENSE00002475465	224807911	224808086
ENSE00002478074	224830541	224830612
ENSE00002478467	224805408	224805529
ENSE00002524819	224807668	224807784
ENSE00002524894	224823501	224823647
ENSE00003238322	224770211	224770349
ENSE00003249384	224765090	224765837
ENSE00003417357	224770545	224770645
ENSE00003466056	224874666	224874751
ENSE00003489953	224864866	224865087
ENSE00003506198	224864553	224864675
ENSE00003545128	224886459	224886531
ENSE00003545176	224931549	224931668
ENSE00003548089	225042252	225042468
ENSE00003560943	224896295	224896377
ENSE00003589208	224873996	224874151
ENSE00003615701	224916695	224916784
ENSE00003620712	224874266	224874349
ENSE00003624205	224876038	224876221
ENSE00003625924	224792974	224793072
ENSE00003630021	224885671	224885805
ENSE00003648006	224793400	224793457
ENSE00003668401	224886063	224886185

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 97.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.2592 / max 627.7691, expressed in 1429 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
34281	9.3753	1207
34271	3.6006	491
34284	1.9831	598
34275	1.0930	327
34272	0.9077	295
34285	0.8320	454
34274	0.7187	111
34267	0.6710	149
34280	0.4584	210
34269	0.2690	133

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	97.35	gold quality
medial globus pallidus	UBERON:0002477	96.47	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.82	gold quality
globus pallidus	UBERON:0001875	94.44	gold quality
spinal cord	UBERON:0002240	94.05	gold quality
blood vessel layer	UBERON:0004797	93.85	gold quality
buccal mucosa cell	CL:0002336	93.66	gold quality
inferior vagus X ganglion	UBERON:0005363	92.06	gold quality
spleen	UBERON:0002106	91.17	gold quality
granulocyte	CL:0000094	91.08	gold quality
substantia nigra	UBERON:0002038	90.58	gold quality
bone marrow cell	CL:0002092	90.53	gold quality
leukocyte	CL:0000738	90.31	gold quality
subthalamic nucleus	UBERON:0001906	90.23	gold quality
lymph node	UBERON:0000029	90.15	gold quality
Ammon’s horn	UBERON:0001954	90.11	gold quality
monocyte	CL:0000576	90.09	gold quality
midbrain	UBERON:0001891	90.07	gold quality
mononuclear cell	CL:0000842	90.06	gold quality
sural nerve	UBERON:0015488	89.34	gold quality
vermiform appendix	UBERON:0001154	89.33	gold quality
inferior olivary complex	UBERON:0002127	89.17	gold quality
medulla oblongata	UBERON:0001896	88.12	gold quality
amygdala	UBERON:0001876	87.63	gold quality
blood	UBERON:0000178	87.35	gold quality
stromal cell of endometrium	CL:0002255	87.27	gold quality
colonic epithelium	UBERON:0000397	87.20	gold quality
descending thoracic aorta	UBERON:0002345	87.04	gold quality
hypothalamus	UBERON:0001898	87.03	gold quality
epithelium of nasopharynx	UBERON:0001951	86.79	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-GEOD-180759	yes	3429.31
E-HCAD-35	yes	113.71
E-HCAD-25	yes	63.38
E-CURD-119	yes	40.37
E-ANND-3	yes	10.67
E-GEOD-93593	yes	6.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

87 targeting DOCK10, 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-656-3P	100.00	72.15	2788
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-98-3P	100.00	74.08	3907
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502

Literature-anchored findings (GeneRIF, showing 5)

• Dock10 could represent a point of convergence for interleukin 4 signalling and small Rho GTPase function in B cells. (PMID:18499258)
• Silencing DOCK10 expression in melanoma promotes conversion to mesenchymal migration and is associated with decreased MLC2 phosphorylation and increased Rac1 activation. (PMID:18835169)
• T cells and B cells exhibited inverse expression patterns of the DOCK10 isoforms (PMID:21514340)
• we identified the transcription factor FoxO1 as a potential mediator of ERK2-induced EMT, and thus we investigated the mechanism by which ERK2 regulates FoxO1. Additionally, our analysis revealed that ERK2 induced the expression of Dock10, a Rac1/Cdc42 GEF, during EMT (PMID:30728292)
• Expression of DOCK10.1 protein revealed with a specific antiserum: insights into regulation of first exon isoforms of DOCK10. (PMID:32112301)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	dock10	ENSDARG00000075327
mus_musculus	Dock10	ENSMUSG00000038608
rattus_norvegicus	Dock10	ENSRNOG00000053200
drosophila_melanogaster	Zir	FBGN0031216
caenorhabditis_elegans		WBGENE00000419
caenorhabditis_elegans		WBGENE00018520

Paralogs (10): DOCK9 (ENSG00000088387), DOCK3 (ENSG00000088538), DOCK8 (ENSG00000107099), DOCK7 (ENSG00000116641), DOCK4 (ENSG00000128512), DOCK6 (ENSG00000130158), DOCK2 (ENSG00000134516), DOCK11 (ENSG00000147251), DOCK5 (ENSG00000147459), DOCK1 (ENSG00000150760)

Protein

Protein identifiers

Dedicator of cytokinesis protein 10 — Q96BY6 (reviewed: Q96BY6)

Alternative names: Zizimin-3

All UniProt accessions (9): A0A2R8Y5U0, A0A2R8YD85, A0A8V8TLD7, A0A8V8TLG2, A0A8V8TLW2, A0A8V8TN54, Q96BY6, H0YFC5, H7C0I3

UniProt curated annotations — full annotation on UniProt →

Function. Guanine nucleotide-exchange factor (GEF) that activates CDC42 and RAC1 by exchanging bound GDP for free GTP. Essential for dendritic spine morphogenesis in Purkinje cells and in hippocampal neurons, via a CDC42-mediated pathway. Sustains B-cell lymphopoiesis in secondary lymphoid tissues and regulates FCER2/CD23 expression.

Subcellular location. Nucleus. Cytoplasm. Cell projection. Dendritic spine.

Tissue specificity. Expressed at low level in brain and lung. Isoform 1 is enriched in normal T-cells, isoform 3 is enriched in normal B-cells and chronic lymphocytic leukemia (CLL) B-cells.

Domain organisation. The DOCKER domain may mediate some GEF activity.

Induction. Isoforms 1 and 2 are up-regulated in response to IL4 in B-cells but not T-cells.

Miscellaneous. ‘Zizim’ means ‘spike’ in Hebrew.

Similarity. Belongs to the DOCK family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96BY6-1	1, DOCK10.1	yes
Q96BY6-2	2
Q96BY6-3	3, DOCK10.2

RefSeq proteins (3): NP_001277192, NP_001350691, NP_055504* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR021816	DOCK_C/D_N	Domain
IPR026791	DOCK	Family
IPR027007	C2_DOCK-type_domain	Domain
IPR027357	DOCKER_dom	Domain
IPR035892	C2_domain_sf	Homologous_superfamily
IPR037809	C2_Dock-D	Domain
IPR043161	DOCK_C_lobe_A	Homologous_superfamily
IPR043162	DOCK_C_lobe_C	Homologous_superfamily
IPR046769	DOCKER_Lobe_A	Domain
IPR046770	DOCKER_Lobe_B	Domain
IPR046773	DOCKER_Lobe_C	Domain

Pfam: PF00169, PF06920, PF11878, PF14429, PF20421, PF20422

UniProt features (62 total): helix 20, modified residue 12, strand 9, turn 6, sequence conflict 5, domain 3, splice variant 3, region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
7Q43	X-RAY DIFFRACTION	2.4
6TKY	X-RAY DIFFRACTION	2.55
6TKZ	X-RAY DIFFRACTION	2.64
6TM1	X-RAY DIFFRACTION	3.71

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96BY6-F1	76.47	0.29

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 (12): 834, 877, 1232, 1257, 1292, 1295, 1318, 1406, 1440, 196, 302, 368

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013404	RAC2 GTPase cycle
R-HSA-9013423	RAC3 GTPase cycle
R-HSA-983231	Factors involved in megakaryocyte development and platelet production

MSigDB gene sets: 271 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_BCELL_UP, GOBP_DENDRITE_DEVELOPMENT, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_B_CELL_HOMEOSTASIS, GOBP_SYNAPSE_ASSEMBLY, GOBP_B_CELL_ACTIVATION, GOBP_LYMPHOCYTE_HOMEOSTASIS, GOBP_DENDRITIC_SPINE_DEVELOPMENT, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOMF_GTPASE_BINDING

GO Biological Process (8): B cell homeostasis (GO:0001782), marginal zone B cell differentiation (GO:0002315), small GTPase-mediated signal transduction (GO:0007264), regulation of cell migration (GO:0030334), regulation of Rho protein signal transduction (GO:0035023), positive regulation of GTPase activity (GO:0043547), dendritic spine morphogenesis (GO:0060997), regulation of postsynapse assembly (GO:0150052)

GO Molecular Function (3): guanyl-nucleotide exchange factor activity (GO:0005085), small GTPase binding (GO:0031267), protein binding (GO:0005515)

GO Cellular Component (11): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), dendritic spine (GO:0043197), extracellular exosome (GO:0070062), glutamatergic synapse (GO:0098978), cell projection (GO:0042995), synapse (GO:0045202), postsynapse (GO:0098794)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
RHO GTPase cycle	4
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
synapse	2
lymphocyte homeostasis	1
mature B cell differentiation involved in immune response	1
intracellular signaling cassette	1
cell migration	1
regulation of cell motility	1
Rho protein signal transduction	1
regulation of small GTPase mediated signal transduction	1
GTPase activity	1
regulation of GTPase activity	1
positive regulation of hydrolase activity	1
neuron projection development	1
neuron projection morphogenesis	1
dendrite morphogenesis	1
dendritic spine development	1
dendritic spine organization	1
regulation of synapse assembly	1
postsynapse assembly	1
regulation of postsynapse organization	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
GTPase binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
dendrite	1
neuron spine	1
postsynapse	1
extracellular vesicle	1
cell junction	1

Protein interactions and networks

STRING

1060 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DOCK10	DHX37	Q8IY37	892
DOCK10	DHX8	Q14562	864
DOCK10	DORIP1	Q4W4Y0	597
DOCK10	RHOF	Q9HBH0	596
DOCK10	CDC42	P21181	588
DOCK10	RHOJ	Q9H4E5	556
DOCK10	DOCK1	Q14185	520
DOCK10	RHOC	P08134	516
DOCK10	VAV1	P15498	503
DOCK10	PLCD3	Q8N3E9	484
DOCK10	PPP3CA	Q08209	476
DOCK10	MED1	Q15648	475
DOCK10	RHOQ	P17081	465
DOCK10	PPARG	P37231	457
DOCK10	ARHGAP22	Q7Z5H3	449

IntAct

22 interactions, top by confidence:

A	B	Type	Score
CCDC102B	DOCK10	psi-mi:“MI:0915”(physical association)	0.560
MAGEA11	DOCK10	psi-mi:“MI:0915”(physical association)	0.560
DOCK10	SH3GLB1	psi-mi:“MI:0915”(physical association)	0.560
PRPF40A	DOCK10	psi-mi:“MI:0915”(physical association)	0.560
DOCK10	HAL	psi-mi:“MI:0914”(association)	0.530
DNAJB8	DNAJB6	psi-mi:“MI:0914”(association)	0.530
DOCK10	VIM	psi-mi:“MI:0915”(physical association)	0.400
DOCK10	CFTR	psi-mi:“MI:0915”(physical association)	0.370
DOCK10	LURAP1	psi-mi:“MI:0915”(physical association)	0.370
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
TLK2	IGKV1D-13	psi-mi:“MI:0914”(association)	0.350
LYPD1	ADAM10	psi-mi:“MI:0914”(association)	0.350
DOCK10	MAGEA11	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (36): DOCK10 (Two-hybrid), LURAP1 (Two-hybrid), DOCK10 (Affinity Capture-MS), DOCK9 (Affinity Capture-MS), HAL (Affinity Capture-MS), DOCK10 (Affinity Capture-MS), DOCK10 (Affinity Capture-MS), DOCK10 (Affinity Capture-RNA), DOCK10 (Co-fractionation), ACSF2 (Co-fractionation), DOCK10 (Co-fractionation), SUCLG2 (Co-fractionation), DOCK10 (Co-fractionation), CCDC102B (Two-hybrid), MAGEA11 (Two-hybrid)

ESM2 similar proteins: A0A8I3P7X4, A7S641, A8WG88, A9ULY7, B0R034, B0W6N3, B5DFC8, B5ME19, D6WIX5, E7EXT2, F7AEX0, O60308, O95202, P0C204, P45433, P53569, Q03701, Q0VA06, Q173M7, Q1L987, Q28HX4, Q3SYW6, Q3ZC50, Q4QR58, Q5RAT8, Q5RCI4, Q5U2X6, Q5XGZ8, Q5XIN6, Q5ZK33, Q66I12, Q6AZI2, Q6IVW0, Q6P1V4, Q6PFQ2, Q6PGY6, Q7PGE8, Q7SYB2, Q8BZN6, Q8R1B4

Diamond homologs: A2AF47, B0R034, Q5JSL3, Q63603, Q8BIK4, Q8BZN6, Q8C147, Q8NF50, Q96BY6, Q9BZ29, Q9VZZ9, Q8R1A4, Q8VDR9, Q96HP0, Q96N67

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
DOCK10	“up-regulates activity”	RAC1	“guanine nucleotide exchange factor”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	265
Likely benign	9
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

7808 predictions. Top by Δscore:

Variant	Effect	Δscore
2:224765838:C:CC	acceptor_gain	1.0000
2:224765839:T:C	acceptor_gain	1.0000
2:224765839:T:TC	acceptor_gain	1.0000
2:224765845:C:CT	acceptor_gain	1.0000
2:224765846:A:T	acceptor_gain	1.0000
2:224770539:GCTTA:G	donor_loss	1.0000
2:224770540:CTTAC:C	donor_loss	1.0000
2:224770541:TTA:T	donor_loss	1.0000
2:224770542:TA:T	donor_loss	1.0000
2:224770544:C:A	donor_loss	1.0000
2:224770641:TTAAC:T	acceptor_gain	1.0000
2:224770642:TAAC:T	acceptor_gain	1.0000
2:224770643:AAC:A	acceptor_gain	1.0000
2:224770644:ACC:A	acceptor_loss	1.0000
2:224770646:C:CA	acceptor_loss	1.0000
2:224770646:C:CC	acceptor_gain	1.0000
2:224770647:T:A	acceptor_loss	1.0000
2:224770649:T:TC	acceptor_gain	1.0000
2:224773152:CTCA:C	donor_gain	1.0000
2:224773153:TCA:T	donor_loss	1.0000
2:224773155:A:AC	donor_gain	1.0000
2:224773155:A:T	donor_loss	1.0000
2:224773156:C:CC	donor_gain	1.0000
2:224773172:T:TA	donor_gain	1.0000
2:224773344:CTCG:C	acceptor_gain	1.0000
2:224773345:TCG:T	acceptor_gain	1.0000
2:224773346:CG:C	acceptor_gain	1.0000
2:224773346:CGCTG:C	acceptor_gain	1.0000
2:224773347:GC:G	acceptor_loss	1.0000
2:224773348:C:CC	acceptor_gain	1.0000

AlphaMissense

14523 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:224787041:C:G	R1879P	1.000
2:224787357:A:G	L1820P	1.000
2:224787378:A:G	L1813P	1.000
2:224793411:A:G	L1734P	1.000
2:224793426:A:G	L1729P	1.000
2:224793446:A:C	C1722W	1.000
2:224793448:A:G	C1722R	1.000
2:224794925:A:G	L1703P	1.000
2:224794929:A:G	W1702R	1.000
2:224794929:A:T	W1702R	1.000
2:224794937:C:G	R1699P	1.000
2:224794938:G:T	R1699S	1.000
2:224794940:A:G	L1698P	1.000
2:224794970:A:G	L1688P	1.000
2:224794970:A:T	L1688Q	1.000
2:224794982:A:G	L1684P	1.000
2:224794991:A:G	L1681P	1.000
2:224795021:A:G	M1671T	1.000
2:224795033:G:T	A1667D	1.000
2:224795034:C:G	A1667P	1.000
2:224795063:A:G	L1657P	1.000
2:224796359:A:G	L1632P	1.000
2:224796409:G:C	S1615R	1.000
2:224796409:G:T	S1615R	1.000
2:224796411:T:G	S1615R	1.000
2:224876115:A:G	L285P	1.000
2:224876128:A:G	W281R	1.000
2:224876128:A:T	W281R	1.000
2:224876160:A:G	L270P	1.000
2:224876190:A:G	L260S	1.000

dbSNP variants (sampled 300 via entrez): RS1000042374 (2:224923105 G>A), RS1000044143 (2:224920341 T>A), RS1000050959 (2:224791444 G>T), RS1000058239 (2:224963724 G>A), RS1000084773 (2:224855576 A>C), RS1000096490 (2:224926296 G>A), RS1000101280 (2:224998552 C>A), RS1000115488 (2:224926926 A>C,T), RS1000120444 (2:224970501 C>T), RS1000126388 (2:225013891 A>G), RS1000127854 (2:224933538 T>A), RS1000142404 (2:225001385 G>T), RS1000174434 (2:224976200 C>T), RS1000237326 (2:224913792 A>G), RS1000238310 (2:224838916 A>C)

Disease associations

OMIM: gene MIM:611518 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST002124_3	IgE levels in asthmatics (D.p. specific)	4.000000e-06
GCST003207_4	Response to exercise (triglyceride level interaction)	3.000000e-07
GCST003806_1	Response to bupropion and depression	6.000000e-07
GCST004608_65	Granulocyte percentage of myeloid white cells	3.000000e-12
GCST004609_103	Monocyte percentage of white cells	3.000000e-16
GCST004616_134	Platelet distribution width	6.000000e-61
GCST004616_135	Platelet distribution width	6.000000e-21
GCST004625_59	Monocyte count	2.000000e-22
GCST005411_1	Thrombin-activatable fibrinolysis inhibitor activation peptide	6.000000e-07
GCST009597_107	Multiple sclerosis	8.000000e-07
GCST011741_71	LDL cholesterol levels in HIV infection	4.000000e-06
GCST011742_41	Triglyceride levels in HIV infection	7.000000e-07
GCST012484_7	Cerebral amyloid angiopathy x APOEe4 status interaction in Alzheimer’s disease	1.000000e-06
GCST90002393_392	Monocyte count	2.000000e-39
GCST90002394_24	Monocyte percentage of white cells	4.000000e-27
GCST90002395_361	Mean platelet volume	8.000000e-14
GCST90002400_344	Plateletcrit	2.000000e-15
GCST90002400_345	Plateletcrit	1.000000e-13
GCST90002401_427	Platelet distribution width	9.000000e-217
GCST90002401_428	Platelet distribution width	3.000000e-20
GCST90002401_429	Platelet distribution width	2.000000e-83
GCST90002402_290	Platelet count	2.000000e-18
GCST90002402_291	Platelet count	2.000000e-22

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0007681	triglyceride change measurement
EFO:0007768	response to exercise
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0007989	monocyte percentage of leukocytes
EFO:0007984	platelet component distribution width
EFO:0005091	monocyte count
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0007659	APOE carrier status
EFO:0007985	platelet crit
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	3
Benzo(a)pyrene	increases expression, affects methylation, decreases expression	3
bisphenol A	decreases methylation, increases expression	2
potassium chromate(VI)	affects cotreatment, decreases expression	2
Nickel	increases expression	2
Valproic Acid	increases expression, affects expression	2
Aflatoxin B1	increases expression, increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
arsenite	affects binding, decreases reaction	1
benzo(e)pyrene	increases methylation	1
nickel sulfate	increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
chromium hexavalent ion	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
belinostat	decreases expression	1
ICG 001	increases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Zoledronic Acid	increases expression	1
Fulvestrant	increases methylation	1
Cisplatin	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Ethinyl Estradiol	decreases expression	1
Iron	increases expression	1

Clinical trials (associated diseases)

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