TBC1D10A

Summary

TBC1D10A (TBC1 domain family member 10A, HGNC:23609) is a protein-coding gene on chromosome 22q12.2, encoding TBC1 domain family member 10A (Q9BXI6). GTPase-activating protein (GAP) specific for RAB27A and RAB35.

Enables PDZ domain binding activity. Involved in positive regulation of proteolysis and retrograde transport, endosome to Golgi. Located in plasma membrane.

Source: NCBI Gene 83874 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 111 total
• MANE Select transcript: NM_031937

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23609
Approved symbol	TBC1D10A
Name	TBC1 domain family member 10A
Location	22q12.2
Locus type	gene with protein product
Status	Approved
Aliases	EPI64, AC004997.C22.2
Ensembl gene	ENSG00000099992
Ensembl biotype	protein_coding
OMIM	610020
Entrez	83874

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 12 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000215790, ENST00000393906, ENST00000403362, ENST00000403477, ENST00000433426, ENST00000437122, ENST00000462073, ENST00000466666, ENST00000467596, ENST00000490449, ENST00000884619, ENST00000884620, ENST00000884621, ENST00000884622, ENST00000962329, ENST00000962330, ENST00000962331, ENST00000962332

RefSeq mRNA: 2 — MANE Select: NM_031937 NM_001204240, NM_031937

CCDS: CCDS13874, CCDS56227

Canonical transcript exons

ENST00000215790 — 9 exons

Exon	Start	End
ENSE00001899249	30326673	30326941
ENSE00001920365	30291990	30292851
ENSE00003465569	30304531	30304630
ENSE00003530889	30299444	30299551
ENSE00003545434	30293921	30294110
ENSE00003582377	30294941	30295055
ENSE00003590057	30294796	30294861
ENSE00003667082	30293651	30293805
ENSE00003677886	30295737	30295843

Expression profiles

Bgee: expression breadth ubiquitous, 229 present calls, max score 94.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.7372 / max 148.7481, expressed in 1796 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
193617	7.0239	1691
193618	5.6729	1730
193613	3.6797	1224
193616	0.0404	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nasal cavity epithelium	UBERON:0005384	94.97	silver quality
upper arm skin	UBERON:0004263	93.67	gold quality
skin of leg	UBERON:0001511	93.58	gold quality
esophagus mucosa	UBERON:0002469	93.27	gold quality
skin of abdomen	UBERON:0001416	93.26	gold quality
lower esophagus mucosa	UBERON:0035834	92.93	gold quality
granulocyte	CL:0000094	92.83	gold quality
zone of skin	UBERON:0000014	92.14	gold quality
gingival epithelium	UBERON:0001949	91.46	silver quality
mucosa of transverse colon	UBERON:0004991	91.34	gold quality
esophagus	UBERON:0001043	91.10	gold quality
ascending aorta	UBERON:0001496	90.94	gold quality
thoracic aorta	UBERON:0001515	90.89	gold quality
spleen	UBERON:0002106	90.37	gold quality
minor salivary gland	UBERON:0001830	90.31	gold quality
descending thoracic aorta	UBERON:0002345	90.31	gold quality
mouth mucosa	UBERON:0003729	90.15	gold quality
ectocervix	UBERON:0012249	90.06	gold quality
adenohypophysis	UBERON:0002196	90.04	gold quality
right coronary artery	UBERON:0001625	89.88	gold quality
kidney epithelium	UBERON:0004819	89.85	silver quality
right lung	UBERON:0002167	89.80	gold quality
cardiac muscle of right atrium	UBERON:0003379	89.78	gold quality
right ovary	UBERON:0002118	89.77	gold quality
right lobe of thyroid gland	UBERON:0001119	89.67	gold quality
left coronary artery	UBERON:0001626	89.58	gold quality
aorta	UBERON:0000947	89.57	gold quality
mucosa of stomach	UBERON:0001199	89.47	gold quality
coronary artery	UBERON:0001621	89.41	gold quality
vena cava	UBERON:0004087	89.41	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.01

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting TBC1D10A, 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-4692	100.00	67.32	2066
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-4687-3P	99.48	66.41	968
HSA-MIR-1206	99.30	69.32	1016
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-1909-5P	98.94	64.01	484
HSA-MIR-4252	98.45	66.37	987
HSA-MIR-1910-3P	98.44	67.51	1695
HSA-MIR-6511A-5P	98.13	67.47	1770
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4726-5P	97.24	65.67	1299
HSA-MIR-1343-5P	96.48	66.06	1506

Literature-anchored findings (GeneRIF, showing 10)

• EPI64 is a GTPase-activating protein specific for Rab27A (PMID:16923811)
• These data reveal that microvilli have distinct cytoskeletal subdomains and that EPI64 regulates microvillar structure. (PMID:17145964)
• EPI64C and Rab35 regulate a recycling pathway in T cells and contribute to immunological synapse formation, most likely by participating in TCR transport to the immunological synapse (PMID:18450757)
• analysis of recycling of the Ca2+-activated K+ channel, KCa2.3, is dependent upon RME-1, Rab35/EPI64C, and an N-terminal domain (PMID:20360009)
• EPI64 regulates membrane trafficking both by stabilizing Arf6-GTP and by inhibiting the recycling of membrane through the tubular endosome by decreasing Rab8a-GTP levels. (PMID:22219378)
• Data suggest that EPI64A and B, which are ubiquitously expressed members of the EPI64 subfamily, inactivate Ras and certain Rabs at the periphery of cells. (PMID:23248241)
• EPI64, a candidate GAP that is specific for Rab27. (PMID:24673604)
• Data suggest that Rab35, interacting with TBC1D10A, functions in vascular endothelial cells as a negative regulator of histamine-evoked, Ca2+-dependent Weibel-Palade body exocytosis, most likely acting through the downstream effectors ACAP2 and Arf6. (Rab35 = rab GTP-binding protein 53; TBC1D10A = TBC1 domain family member 10A; ACAP2 = centaurin beta2; Arf6 = ADP-ribosylation factor 6) (PMID:28566286)
• Regulation of VEGFR2 trafficking and signaling by Rab GTPase-activating proteins. (PMID:31527750)
• The RabGAPs EPI64A and EPI64B regulate the apical structure of epithelial cells (dagger). (PMID:34757852)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tbc1d10ab	ENSDARG00000060096
danio_rerio	tbc1d10aa	ENSDARG00000102070
mus_musculus	Tbc1d10a	ENSMUSG00000034412
rattus_norvegicus	Tbc1d10a	ENSRNOG00000006394

Paralogs (45): RABGAP1 (ENSG00000011454), TBC1D22A (ENSG00000054611), TBC1D22B (ENSG00000065491), TBC1D1 (ENSG00000065882), EVI5 (ENSG00000067208), TBC1D25 (ENSG00000068354), TBC1D2 (ENSG00000095383), SGSM3 (ENSG00000100359), TBC1D17 (ENSG00000104946), TBC1D13 (ENSG00000107021), TBC1D12 (ENSG00000108239), TBC1D9 (ENSG00000109436), TBC1D30 (ENSG00000111490), TBC1D15 (ENSG00000121749), TBC1D5 (ENSG00000131374), TBC1D14 (ENSG00000132405), TBC1D8B (ENSG00000133138), TBC1D4 (ENSG00000136111), GRTP1 (ENSG00000139835), SGSM2 (ENSG00000141258), EVI5L (ENSG00000142459), TBCK (ENSG00000145348), USP6NL (ENSG00000148429), RABGAP1L (ENSG00000152061), SGSM1 (ENSG00000167037), TBC1D21 (ENSG00000167139), TBC1D2B (ENSG00000167202), TBC1D16 (ENSG00000167291), TBC1D10B (ENSG00000169221), TBC1D10C (ENSG00000175463), TBC1D28 (ENSG00000189375), TBC1D9B (ENSG00000197226), TBC1D8 (ENSG00000204634), TBC1D26 (ENSG00000214946), TBC1D3G (ENSG00000260287), TBC1D3K (ENSG00000273513), TBC1D3H (ENSG00000274226), TBC1D3D (ENSG00000274419), TBC1D3L (ENSG00000274512), TBC1D3 (ENSG00000274611)

Protein

Protein identifiers

TBC1 domain family member 10A — Q9BXI6 (reviewed: Q9BXI6)

Alternative names: EBP50-PDX interactor of 64 kDa, Rab27A-GAP-alpha

All UniProt accessions (5): Q9BXI6, B5MD46, F8W9Y7, F8WCD1, F8WDN6

UniProt curated annotations — full annotation on UniProt →

Function. GTPase-activating protein (GAP) specific for RAB27A and RAB35. Does not show GAP activity for RAB2A, RAB3A and RAB4A.

Subunit / interactions. Binds to the first PDZ domain of NHERF1 and NHERF2.

Subcellular location. Cell projection. Microvillus.

Post-translational modifications. Exists in both phosphorylated and non-phosphorylated state.

Domain organisation. The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab’s ‘switch 2’ glutamine and insert in Rab’s active site.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BXI6-1	1	yes
Q9BXI6-2	2

RefSeq proteins (2): NP_001191169, NP_114143* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000195	Rab-GAP-TBC_dom	Domain
IPR035969	Rab-GAP_TBC_sf	Homologous_superfamily
IPR050302	Rab_GAP_TBC_domain	Family

Pfam: PF00566

UniProt features (17 total): modified residue 4, mutagenesis site 3, region of interest 3, site 2, chain 1, domain 1, splice variant 1, sequence variant 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BXI6-F1	78.06	0.62

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 156 (arginine finger); 197 (glutamine finger)

Post-translational modifications (4): 45, 407, 39, 40

Mutagenesis-validated functional residues (3):

Position	Phenotype
157	loss of activity. no effect on subcellular location.
160	loss of activity. no effect on subcellular location.
508	loss of interaction with ebp50 and impaired subcellular localization.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-8854214	TBC/RABGAPs
R-HSA-199991	Membrane Trafficking
R-HSA-5653656	Vesicle-mediated transport
R-HSA-9007101	Rab regulation of trafficking

MSigDB gene sets: 122 (showing top): GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, RICKMAN_METASTASIS_DN, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CILIUM_ORGANIZATION, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOBP_ORGANELLE_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_PROTEOLYSIS, GOBP_REGULATION_OF_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_RETROGRADE_TRANSPORT_ENDOSOME_TO_GOLGI, EGR1_01, GOBP_REGULATION_OF_CELL_PROJECTION_ASSEMBLY

GO Biological Process (2): retrograde transport, endosome to Golgi (GO:0042147), positive regulation of proteolysis (GO:0045862)

GO Molecular Function (5): guanyl-nucleotide exchange factor activity (GO:0005085), GTPase activator activity (GO:0005096), PDZ domain binding (GO:0030165), cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (5): cytosol (GO:0005829), plasma membrane (GO:0005886), microvillus (GO:0005902), extracellular exosome (GO:0070062), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Rab regulation of trafficking	1
Vesicle-mediated transport	1
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
GTPase regulator activity	2
cellular anatomical structure	2
intercellular transport	1
endosomal transport	1
cytosolic transport	1
proteolysis	1
regulation of proteolysis	1
positive regulation of protein metabolic process	1
GTP binding	1
GDP binding	1
GTPase activity	1
enzyme activator activity	1
protein domain specific binding	1
cell adhesion molecule binding	1
binding	1
cytoplasm	1
membrane	1
cell periphery	1
actin filament bundle	1
actin-based cell projection	1
extracellular vesicle	1

Protein interactions and networks

STRING

606 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TBC1D10A	RAB35	Q15286	987
TBC1D10A	RAB27A	P51159	900
TBC1D10A	NHERF1	O14745	884
TBC1D10A	CDC16	Q13042	789
TBC1D10A	RAB22A	Q9UL26	779
TBC1D10A	NHERF2	Q15599	666
TBC1D10A	RAB6A	P20340	646
TBC1D10A	RAB2A	P08886	641
TBC1D10A	EIF3K	Q9UBQ5	637
TBC1D10A	TBC1D13	Q9NVG8	629
TBC1D10A	RAB11A	P24410	624
TBC1D10A	TBC1D22B	Q9NU19	624
TBC1D10A	RAB27B	O00194	614
TBC1D10A	EZR	P15311	586
TBC1D10A	RAB3A	P20336	577

IntAct

160 interactions, top by confidence:

A	B	Type	Score
PDE6D	ARL3	psi-mi:“MI:0914”(association)	0.920
EZR	NHERF1	psi-mi:“MI:0914”(association)	0.850
TBC1D10A	NHERF2	psi-mi:“MI:0407”(direct interaction)	0.780
CNOT11	CNOT1	psi-mi:“MI:0914”(association)	0.770
NHERF2	PODXL	psi-mi:“MI:0914”(association)	0.770
NHERF1	TBC1D10A	psi-mi:“MI:0407”(direct interaction)	0.730
TBC1D10A	NHERF1	psi-mi:“MI:0403”(colocalization)	0.730
TEX13A	TBC1D10A	psi-mi:“MI:0915”(physical association)	0.720
TBC1D10A	TEX13A	psi-mi:“MI:0915”(physical association)	0.720
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
TBC1D10A	ACD	psi-mi:“MI:0915”(physical association)	0.510
EZR	TBC1D10A	psi-mi:“MI:0403”(colocalization)	0.490
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
TBC1D10A	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
TBC1D10A	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
TBC1D10A	FRMPD4	psi-mi:“MI:0407”(direct interaction)	0.440
TBC1D10A	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
TBC1D10A	SHANK1	psi-mi:“MI:0407”(direct interaction)	0.440
TBC1D10A	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.440
MAST1	TBC1D10A	psi-mi:“MI:0407”(direct interaction)	0.440
TBC1D10A	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
TBC1D10A	PARD3	psi-mi:“MI:0407”(direct interaction)	0.440
TBC1D10A	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
TBC1D10A	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (51): TBC1D10A (Two-hybrid), TBC1D10A (Affinity Capture-MS), TBC1D10A (Affinity Capture-MS), TBC1D10A (Affinity Capture-MS), TBC1D10A (Affinity Capture-MS), TBC1D10A (Affinity Capture-MS), TBC1D10A (Affinity Capture-MS), TBC1D10A (Affinity Capture-MS), TBC1D10A (Affinity Capture-MS), TBC1D10A (Proximity Label-MS), TBC1D10A (Affinity Capture-MS), TBC1D10A (Affinity Capture-MS), TBC1D10A (Affinity Capture-MS), TBC1D10A (Proximity Label-MS), TBC1D10A (Proximity Label-MS)

ESM2 similar proteins: A6H8I2, A6QP29, B1AVH7, B2DD29, B5DFA1, D2H0G5, O14976, O43147, O60343, O95398, P58802, P98171, Q08493, Q2KI13, Q3U1Y4, Q4KMP7, Q5DU57, Q5RJI5, Q5SVR0, Q60949, Q66K14, Q69Z98, Q6P6R7, Q6TLK4, Q7T2D0, Q7TSI1, Q80U12, Q86TI0, Q86VW2, Q8BHL3, Q8BYJ6, Q8C9V1, Q8IV04, Q8IWQ3, Q8K337, Q8TC07, Q8TDC3, Q8TDY4, Q8VCC8, Q8VCZ6

Diamond homologs: A0A087WVF3, A0A087WXS9, A0A087X179, A0A087X1G2, A2AWA9, A3KGB4, A6H6A9, A6NDS4, A6NER0, A6QP29, B0R0W9, B7ZAP0, B9A6J9, H2KZZ6, O60343, O60447, O95759, O97790, P0C7X1, P35125, P58802, P97366, Q0IIM8, Q10496, Q12317, Q12344, Q28CB1, Q3UYK3, Q4KMP7, Q5R372, Q5RAN1, Q5RCW6, Q5SVR0, Q5TC63, Q5ZJ17, Q60949, Q66K14, Q6DHY5, Q6IPX1, Q6ZT07

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 109 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
Ras activation upon Ca2+ influx through NMDA receptor	6	45.1×	3e-07
Dopamine Neurotransmitter Release Cycle	5	32.7×	3e-05
Assembly and cell surface presentation of NMDA receptors	9	30.1×	2e-09
Neurexins and neuroligins	11	28.5×	4e-11
Protein-protein interactions at synapses	7	24.5×	1e-06
RHOQ GTPase cycle	5	11.9×	1e-03
Sensory processing of sound by inner hair cells of the cochlea	5	10.7×	2e-03
Neuronal System	8	4.7×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	9	50.8×	6e-11
protein localization to synapse	6	44.6×	1e-06
receptor clustering	6	36.4×	2e-06
regulation of postsynaptic membrane neurotransmitter receptor levels	6	28.9×	7e-06
protein-containing complex assembly	10	11.1×	4e-06
negative regulation of ERK1 and ERK2 cascade	5	10.5×	4e-03
cell-cell adhesion	10	9.9×	8e-06
protein localization to plasma membrane	8	8.4×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	95
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1669 predictions. Top by Δscore:

Variant	Effect	Δscore
22:30292848:CCAC:C	acceptor_gain	1.0000
22:30292849:CACC:C	acceptor_gain	1.0000
22:30293649:A:T	donor_loss	1.0000
22:30293649:ACCT:A	donor_gain	1.0000
22:30293650:CCTC:C	donor_gain	1.0000
22:30293652:T:TA	donor_gain	1.0000
22:30293670:T:TA	donor_gain	1.0000
22:30293801:GACCC:G	acceptor_gain	1.0000
22:30293802:ACCC:A	acceptor_gain	1.0000
22:30293803:CCC:C	acceptor_gain	1.0000
22:30293803:CCCC:C	acceptor_gain	1.0000
22:30293804:CC:C	acceptor_gain	1.0000
22:30293804:CCC:C	acceptor_gain	1.0000
22:30293805:CC:C	acceptor_gain	1.0000
22:30293806:C:CC	acceptor_gain	1.0000
22:30293806:CTG:C	acceptor_loss	1.0000
22:30293809:C:CT	acceptor_gain	1.0000
22:30293810:A:AC	acceptor_gain	1.0000
22:30293810:A:C	acceptor_gain	1.0000
22:30293915:CAGTA:C	donor_loss	1.0000
22:30293916:AGTAC:A	donor_loss	1.0000
22:30293917:GTAC:G	donor_loss	1.0000
22:30293918:TAC:T	donor_loss	1.0000
22:30294108:CTC:C	acceptor_gain	1.0000
22:30294111:C:CC	acceptor_gain	1.0000
22:30294791:CTCA:C	donor_loss	1.0000
22:30294792:TCA:T	donor_loss	1.0000
22:30294793:CAC:C	donor_loss	1.0000
22:30294794:A:AC	donor_gain	1.0000
22:30294794:A:AT	donor_loss	1.0000

AlphaMissense

3297 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:30293938:T:A	D293V	1.000
22:30293938:T:G	D293A	1.000
22:30293939:C:A	D293Y	1.000
22:30293939:C:G	D293H	1.000
22:30293942:A:G	W292R	1.000
22:30293942:A:T	W292R	1.000
22:30293996:A:G	W274R	1.000
22:30293996:A:T	W274R	1.000
22:30294960:A:G	L207P	1.000
22:30294969:G:T	A204D	1.000
22:30294970:C:G	A204P	1.000
22:30294972:G:T	A203D	1.000
22:30294989:C:A	Q197H	1.000
22:30294989:C:G	Q197H	1.000
22:30294997:A:G	Y195H	1.000
22:30295032:A:G	L183P	1.000
22:30295044:A:G	L179P	1.000
22:30295757:A:C	F168L	1.000
22:30295757:A:T	F168L	1.000
22:30295758:A:C	F168C	1.000
22:30295758:A:G	F168S	1.000
22:30295759:A:G	F168L	1.000
22:30295759:A:T	F168I	1.000
22:30295768:G:C	H165D	1.000
22:30295775:G:C	F162L	1.000
22:30295775:G:T	F162L	1.000
22:30295777:A:G	F162L	1.000
22:30295782:C:G	R160P	1.000
22:30295788:A:G	L158P	1.000
22:30295791:T:A	D157V	1.000

dbSNP variants (sampled 300 via entrez): RS1000012631 (22:30314593 TGAGGCCAGGAGTTTGA>T), RS1000252491 (22:30319790 C>A), RS1000283457 (22:30325899 A>G), RS1000566091 (22:30326914 C>T), RS1000568016 (22:30327451 G>C), RS1000591325 (22:30319837 A>G), RS1000873586 (22:30326708 G>A,C), RS1000920683 (22:30313368 T>A), RS1000942862 (22:30304778 A>G), RS1001201579 (22:30314395 C>T), RS1001211043 (22:30322209 G>A), RS1001256125 (22:30323376 C>T), RS1001287201 (22:30323151 T>G), RS1001289116 (22:30313685 G>A), RS1001409237 (22:30298265 C>G,T)

Disease associations

OMIM: gene MIM:610020 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST005851_15	Delirium	1.000000e-06
GCST90002400_505	Plateletcrit	9.000000e-19
GCST90002401_272	Platelet distribution width	7.000000e-13
GCST90002402_644	Platelet count	4.000000e-13

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007985	platelet crit
EFO:0007984	platelet component distribution width
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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation	2
Aflatoxin B1	decreases methylation	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	increases expression, affects response to substance	1
Niclosamide	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Urethane	increases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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