RAB3B

Summary

RAB3B (RAB3B, member RAS oncogene family, HGNC:9778) is a protein-coding gene on chromosome 1p32.3, encoding Ras-related protein Rab-3B (P20337). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.

Enables GDP binding activity; GTPase activity; and myosin V binding activity. Involved in several processes, including positive regulation of dopamine uptake involved in synaptic transmission; regulation of synaptic vesicle cycle; and regulation of vesicle size. Located in perinuclear region of cytoplasm and vesicle. Is active in dopaminergic synapse and synaptic vesicle membrane.

Source: NCBI Gene 5865 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 26 total
• MANE Select transcript: NM_002867

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9778
Approved symbol	RAB3B
Name	RAB3B, member RAS oncogene family
Location	1p32.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000169213
Ensembl biotype	protein_coding
OMIM	179510
Entrez	5865

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000371655, ENST00000900195, ENST00000921975, ENST00000941606, ENST00000941607

RefSeq mRNA: 1 — MANE Select: NM_002867 NM_002867

CCDS: CCDS560

Canonical transcript exons

ENST00000371655 — 5 exons

Exon	Start	End
ENSE00001156932	51933318	51933442
ENSE00001455765	51907956	51920114
ENSE00001455780	51990552	51990700
ENSE00001623305	51937294	51937412
ENSE00003281431	51976890	51977117

Expression profiles

Bgee: expression breadth ubiquitous, 152 present calls, max score 91.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.5288 / max 297.6216, expressed in 1169 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12334	11.4712	1154
12332	0.6188	338
12333	0.3206	176
12335	0.1061	36
12331	0.0121	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	91.17	gold quality
stromal cell of endometrium	CL:0002255	89.65	gold quality
type B pancreatic cell	CL:0000169	89.02	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.53	gold quality
entorhinal cortex	UBERON:0002728	79.87	gold quality
adenohypophysis	UBERON:0002196	79.66	gold quality
hypothalamus	UBERON:0001898	77.92	gold quality
pituitary gland	UBERON:0000007	77.72	gold quality
adrenal tissue	UBERON:0018303	77.49	gold quality
superior vestibular nucleus	UBERON:0007227	77.28	gold quality
placenta	UBERON:0001987	76.55	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.13	gold quality
lateral globus pallidus	UBERON:0002476	75.65	gold quality
temporal lobe	UBERON:0001871	74.84	gold quality
amygdala	UBERON:0001876	73.31	gold quality
prefrontal cortex	UBERON:0000451	72.99	gold quality
cortical plate	UBERON:0005343	71.93	gold quality
prostate gland	UBERON:0002367	71.58	gold quality
Brodmann (1909) area 46	UBERON:0006483	70.43	gold quality
medial globus pallidus	UBERON:0002477	70.39	gold quality
frontal cortex	UBERON:0001870	70.15	gold quality
globus pallidus	UBERON:0001875	69.92	gold quality
neocortex	UBERON:0001950	69.80	gold quality
mucosa of sigmoid colon	UBERON:0004993	69.77	silver quality
postcentral gyrus	UBERON:0002581	69.21	gold quality
cerebral cortex	UBERON:0000956	69.14	gold quality
cingulate cortex	UBERON:0003027	69.10	gold quality
parietal lobe	UBERON:0001872	68.77	gold quality
anterior cingulate cortex	UBERON:0009835	68.77	gold quality
rectum	UBERON:0001052	68.17	gold quality

Single-cell (SCXA)

Detected in 19 experiment(s), a significant marker in 15.

Experiment	Marker?	Max mean expression
E-MTAB-8894	yes	5316.94
E-GEOD-124263	yes	3396.11
E-MTAB-8142	yes	92.95
E-MTAB-7316	yes	30.55
E-MTAB-5061	yes	25.70
E-GEOD-135922	yes	22.79
E-GEOD-81547	yes	22.02
E-HCAD-1	yes	21.97
E-GEOD-137537	yes	19.64
E-MTAB-8410	yes	18.19
E-HCAD-9	yes	15.81
E-CURD-114	yes	11.39
E-GEOD-83139	yes	8.40
E-ANND-3	yes	7.15
E-GEOD-125970	yes	7.05

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, NKX3-1

miRNA regulators (miRDB)

420 targeting RAB3B, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-34A-5P	99.99	71.21	1784

Literature-anchored findings (GeneRIF, showing 12)

• these results add new information to the view that Rab3B is involved in the regulation of pituitary hormone secretion. (PMID:19384079)
• Rab3b/3c-positive recycling vesicles are involved in and may constitute one of the recycling compartments in exogenous antigen cross-presentation. (PMID:19717423)
• RAB3B improves dopamine handling and storage capacity at presynaptic terminals, and confers protection to vulnerable DA neurons. (PMID:20007772)
• These results support an important inter-species difference in regulating insulin exocytosis where RAB3B is the most expressed isoform in human islets. (PMID:20807725)
• The structure of Rab3B:GDP complex was solved to 1.9A resolution and the structural base comparison with other Rab3 members provides a structural basis for the GDP/GTP switch in controlling the activity of small GTPase. (PMID:22321395)
• Western blot experiments designed to detect flotillin 2, TMEM256, Rab3B and LAMTOR1 showed that the level of these proteins was higher in urinary exosomes from prostate cancer patients compared to healthy males (PMID:27664330)
• GDP/GTP exchange factor MADD drives activation and recruitment of secretory Rab GTPases to Weibel-Palade bodies. (PMID:34551092)
• Elevated expression of RAB3B plays important roles in chemoresistance and metastatic potential of hepatoma cells. (PMID:35277124)
• Long noncoding RNA ENST00000436340 promotes podocyte injury in diabetic kidney disease by facilitating the association of PTBP1 with RAB3B. (PMID:36792603)
• circ_0000337 Promotes the Progression of Cervical Cancer by miR-155-5p/RAB3B Axis. (PMID:37882923)
• Pan-cancer analysis reveals correlation between RAB3B expression and tumor heterogeneity, immune microenvironment, and prognosis in multiple cancers. (PMID:38688977)
• Rab3B enhances the stabilization of DDX6 to promote lung adenocarcinoma aggressiveness. (PMID:38834947)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rab3b	ENSDARG00000114797
mus_musculus	Rab3b	ENSMUSG00000003411
rattus_norvegicus	Rab3b	ENSRNOG00000008001

Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RABL2B (ENSG00000079974), RAB21 (ENSG00000080371), RAB10 (ENSG00000084733), RAB18 (ENSG00000099246), RAB36 (ENSG00000100228), IFT27 (ENSG00000100360), RAB40AL (ENSG00000102128), RAB11A (ENSG00000103769), RAB2A (ENSG00000104388), RAB3D (ENSG00000105514), RAB3A (ENSG00000105649), RAB5C (ENSG00000108774), RAB34 (ENSG00000109113), RAB5B (ENSG00000111540), RAB35 (ENSG00000111737), RAB23 (ENSG00000112210), DNAJC27 (ENSG00000115137), RAB29 (ENSG00000117280), RAB32 (ENSG00000118508), RAB14 (ENSG00000119396), RAB9B (ENSG00000123570), RAB9A (ENSG00000123595), RAB38 (ENSG00000123892), RAB22A (ENSG00000124209), RAB17 (ENSG00000124839), RAB2B (ENSG00000129472), RAB25 (ENSG00000132698), RAB33A (ENSG00000134594), RAB30 (ENSG00000137502), RAB1A (ENSG00000138069), RAB20 (ENSG00000139832), RAB15 (ENSG00000139998), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955)

Protein

Protein identifiers

Ras-related protein Rab-3B — P20337 (reviewed: P20337)

All UniProt accessions (1): P20337

UniProt curated annotations — full annotation on UniProt →

Function. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion.

Subunit / interactions. Interacts with RIMS1, RIMS2, RPH3A and RPH3AL. The GTP-bound form interacts with DRC4 (via coiled-coil domains). The GTP-bound form interacts with REP15. Interacts with GDI2, CHM and CHML; phosphorylation at Thr-86 disrupts these interactions. Interacts with MADD (via uDENN domain); the GTP-bound form is preferred for interaction.

Subcellular location. Cell membrane. Golgi apparatus.

Post-translational modifications. Phosphorylation of Thr-86 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitor GDI2.

Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP. Regulated by GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity. Inhibited by GDP dissociation inhibitors (GDIs) which prevent Rab-GDP dissociation.

Domain organisation. Switch 1, switch 2 and the interswitch regions are characteristic of Rab GTPases and mediate the interactions with Rab downstream effectors. The switch regions undergo conformational changes upon nucleotide binding which drives interaction with specific sets of effector proteins, with most effectors only binding to GTP-bound Rab.

Similarity. Belongs to the small GTPase superfamily. Rab family.

RefSeq proteins (1): NP_002858* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR037872	Rab3	Family
IPR050305	Small_GTPase_Rab	Family

Pfam: PF00071

Catalyzed reactions (Rhea), 1 shown:

• GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)

UniProt features (63 total): binding site 29, strand 8, helix 8, modified residue 5, turn 3, short sequence motif 2, lipid moiety-binding region 2, mutagenesis site 2, sequence conflict 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
3DZ8	X-RAY DIFFRACTION	1.9
8A4C	X-RAY DIFFRACTION	2.75
8A4B	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P20337-F1	84.29	0.63

Functional residue map

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

Ligand- & substrate-binding residues (29): 35; 35; 36; 36; 36; 37; 37; 49; 53; 54; 77; 80 …

Post-translational modifications (7): 2, 86, 188, 190, 219, 217, 219

Mutagenesis-validated functional residues (2):

Position	Phenotype
86	loss of phosphorylation. no effect on gdi2, chm and chml binding.
86	phosphomimetic mutant. loss of gdi2, chm and chml binding.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8873719	RAB geranylgeranylation

MSigDB gene sets: 213 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, HORIUCHI_WTAP_TARGETS_DN, GOBP_NEUROTRANSMITTER_UPTAKE, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_NEUROTRANSMITTER_TRANSPORT, KEGG_TIGHT_JUNCTION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_EXOCYTOSIS, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION

GO Biological Process (7): exocytosis (GO:0006887), protein transport (GO:0015031), regulation of exocytosis (GO:0017157), antigen processing and presentation (GO:0019882), positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586), regulation of vesicle size (GO:0097494), regulation of synaptic vesicle cycle (GO:0098693)

GO Molecular Function (9): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), GDP binding (GO:0019003), GTP-dependent protein binding (GO:0030742), myosin V binding (GO:0031489), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (12): cytoplasm (GO:0005737), endosome (GO:0005768), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), synaptic vesicle (GO:0008021), secretory granule (GO:0030141), synaptic vesicle membrane (GO:0030672), vesicle (GO:0031982), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), dopaminergic synapse (GO:0098691), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
endomembrane system	3
regulation of vesicle-mediated transport	2
guanyl ribonucleotide binding	2
cytoplasm	2
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
exocytosis	1
regulation of secretion by cell	1
immune system process	1
positive regulation of neurotransmitter uptake	1
dopamine uptake involved in synaptic transmission	1
regulation of dopamine uptake involved in synaptic transmission	1
regulation of cellular component size	1
synaptic vesicle cycle	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
molecular function regulator activity	1
purine ribonucleoside triphosphate binding	1
anion binding	1
protein binding	1
myosin binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
intracellular anatomical structure	1
cytoplasmic vesicle	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
exocytic vesicle	1
presynapse	1
secretory vesicle	1
synaptic vesicle	1
exocytic vesicle membrane	1

Protein interactions and networks

STRING

1084 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB3B	PIGR	P01833	911
RAB3B	RPH3A	Q9Y2J0	732
RAB3B	SYMPK	Q92797	610
RAB3B	SNAP25	P13795	592
RAB3B	STXBP1	P61764	546
RAB3B	YBX3	P16989	532
RAB3B	RIMS2	Q9UQ26	509
RAB3B	RAB27A	P51159	479
RAB3B	CGN	Q9P2M7	464
RAB3B	RIMS1	Q86UR5	439
RAB3B	CALM1	P02593	430
RAB3B	CD300E	Q496F6	429
RAB3B	SYT11	Q9BT88	425
RAB3B	VAMP3	Q15836	421
RAB3B	CALML5	Q9NZT1	421

IntAct

69 interactions, top by confidence:

A	B	Type	Score
RABIF	RAB3A	psi-mi:“MI:0914”(association)	0.780
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
RAB3B	RABIF	psi-mi:“MI:0915”(physical association)	0.670
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
RAB3B	VRTN	psi-mi:“MI:0915”(physical association)	0.560
MAS1	POTEF	psi-mi:“MI:0914”(association)	0.530
CNDP1	POTEF	psi-mi:“MI:0914”(association)	0.530
APLNR	METTL15	psi-mi:“MI:0914”(association)	0.530
SLC15A1	METTL15	psi-mi:“MI:0914”(association)	0.530
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
LAMP3	METTL15	psi-mi:“MI:0914”(association)	0.530
RAB3A	RAB3B	psi-mi:“MI:0914”(association)	0.530
TMEM9	ESYT2	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
TGOLN2	DENND11	psi-mi:“MI:0914”(association)	0.350
NUFIP1	MAP1LC3B2	psi-mi:“MI:0914”(association)	0.350
GRPR	GPR89A	psi-mi:“MI:0914”(association)	0.350
SLC5A8	GPR89A	psi-mi:“MI:0914”(association)	0.350
RAET1E	GOLIM4	psi-mi:“MI:0914”(association)	0.350
CHRM4	GEMIN2	psi-mi:“MI:0914”(association)	0.350
IL12A	RAB3B	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350

BioGRID (337): RAB3B (Affinity Capture-MS), RAB3B (Affinity Capture-MS), RAB3B (Affinity Capture-MS), RAB3B (Affinity Capture-MS), RAB3B (Affinity Capture-MS), RAB3B (Affinity Capture-Western), RAB3B (Affinity Capture-Western), RAB3B (Affinity Capture-Western), RAB3B (Affinity Capture-Western), RAB3B (Affinity Capture-Western), RAB3B (Affinity Capture-MS), RAB3B (Affinity Capture-MS), RAB3B (Affinity Capture-MS), RAB3B (Affinity Capture-MS), RAB3B (Affinity Capture-MS)

ESM2 similar proteins: A4D1S5, O13876, O80501, P05714, P10948, P10949, P20337, P20338, P34213, P35289, P35293, P35294, P51152, P51159, P56371, P62823, P90726, Q05976, Q0IIG8, Q15771, Q17QB7, Q18969, Q1HE58, Q28IZ3, Q2TBH7, Q32NQ0, Q3ZC27, Q53B90, Q54E92, Q55FK2, Q5EB77, Q5KTJ7, Q5M7U5, Q5R5H5, Q63941, Q68EK7, Q6DHC1, Q6PHI9, Q8CG50, Q923S9

Diamond homologs: A4FV54, C4YL11, F1PTE3, O24466, O42819, O76173, O95716, P01123, P07560, P0CY30, P0CY31, P10536, P10948, P10949, P11023, P11620, P16976, P17609, P20336, P20337, P20790, P20791, P22125, P22127, P22128, P24409, P25228, P28186, P28188, P31584, P33723, P34139, P34140, P35276, P35280, P35281, P35286, P35289, P36861, P40392

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1360 predictions. Top by Δscore:

Variant	Effect	Δscore
1:51919930:G:C	donor_gain	1.0000
1:51920113:CC:C	acceptor_gain	1.0000
1:51920114:CC:C	acceptor_gain	1.0000
1:51933313:CATA:C	donor_loss	1.0000
1:51933315:TACCA:T	donor_loss	1.0000
1:51933316:A:AC	donor_gain	1.0000
1:51933316:A:AG	donor_loss	1.0000
1:51933317:C:A	donor_loss	1.0000
1:51933317:C:CC	donor_gain	1.0000
1:51933317:CCAAG:C	donor_gain	1.0000
1:51933321:G:C	donor_gain	1.0000
1:51933438:TAGCC:T	acceptor_gain	1.0000
1:51933439:AGCC:A	acceptor_gain	1.0000
1:51933440:GCC:G	acceptor_gain	1.0000
1:51933441:CC:C	acceptor_gain	1.0000
1:51933441:CCC:C	acceptor_gain	1.0000
1:51933442:CC:C	acceptor_gain	1.0000
1:51933443:C:CA	acceptor_loss	1.0000
1:51933443:C:CC	acceptor_gain	1.0000
1:51933443:C:T	acceptor_gain	1.0000
1:51937288:TCATA:T	donor_loss	1.0000
1:51937289:CATAC:C	donor_loss	1.0000
1:51937291:TA:T	donor_loss	1.0000
1:51937292:A:AC	donor_gain	1.0000
1:51937292:A:AG	donor_loss	1.0000
1:51937293:C:CC	donor_gain	1.0000
1:51937293:CCAGT:C	donor_gain	1.0000
1:51937411:TC:T	acceptor_gain	1.0000
1:51937412:CC:C	acceptor_gain	1.0000
1:51937413:C:CC	acceptor_gain	1.0000

AlphaMissense

1457 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:51933382:C:A	K136N	1.000
1:51933382:C:G	K136N	1.000
1:51933390:C:A	G134W	1.000
1:51937295:A:G	W116R	1.000
1:51937295:A:T	W116R	1.000
1:51937351:C:T	G97D	1.000
1:51937352:C:G	G97R	1.000
1:51937367:A:C	Y92D	1.000
1:51937372:G:T	A90D	1.000
1:51937381:A:C	I87S	1.000
1:51937381:A:T	I87N	1.000
1:51937387:C:G	R85P	1.000
1:51937402:C:T	G80E	1.000
1:51937403:C:A	G80W	1.000
1:51937403:C:G	G80R	1.000
1:51937403:C:T	G80R	1.000
1:51937405:G:T	A79D	1.000
1:51937410:G:C	D77E	1.000
1:51937410:G:T	D77E	1.000
1:51937411:T:A	D77V	1.000
1:51937411:T:C	D77G	1.000
1:51937411:T:G	D77A	1.000
1:51937412:C:A	D77Y	1.000
1:51937412:C:G	D77H	1.000
1:51976890:C:A	W76C	1.000
1:51976890:C:G	W76C	1.000
1:51976892:A:G	W76R	1.000
1:51976892:A:T	W76R	1.000
1:51976900:A:G	L73P	1.000
1:51976941:G:C	F59L	1.000

dbSNP variants (sampled 300 via entrez): RS1000031679 (1:51939835 A>T), RS1000056961 (1:51926411 G>A,C), RS1000070172 (1:51929764 C>T), RS1000142794 (1:51917724 T>C), RS1000148000 (1:51965772 A>C,G), RS1000200415 (1:51919944 G>T), RS1000213427 (1:51913620 C>T), RS1000273398 (1:51972764 T>A), RS1000286295 (1:51945724 A>AT), RS1000331058 (1:51926576 T>C), RS1000397011 (1:51938989 A>G), RS1000426129 (1:51973092 C>T), RS1000479168 (1:51967184 A>G), RS1000510711 (1:51987071 C>G), RS1000567936 (1:51921299 C>A)

Disease associations

OMIM: gene MIM:179510 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90002395_306	Mean platelet volume	1.000000e-13

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	5
Benzo(a)pyrene	increases expression, increases methylation, affects methylation	4
trichostatin A	decreases expression, increases expression, affects cotreatment	3
Cyclosporine	increases expression	3
Cadmium Chloride	decreases reaction, increases abundance, increases palmitoylation, increases expression	3
methylmercuric chloride	increases expression	2
bisphenol A	affects cotreatment, decreases expression	2
Air Pollutants	increases expression, decreases expression, increases abundance	2
Doxorubicin	increases expression, affects response to substance	2
Nickel	decreases expression	2
Quercetin	affects cotreatment, increases expression	2
Silicon Dioxide	increases expression	2
GSK-J4	increases expression	1
geldanamycin	increases expression	1
selenomethylselenocysteine	increases expression	1
propionaldehyde	increases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
arsenite	affects expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
2-bromopalmitate	increases palmitoylation, decreases reaction, increases abundance	1
ochratoxin A	affects binding	1
hydroquinone	increases expression	1
triadimefon	decreases expression	1
ochratoxin B	affects binding	1
pentanal	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
torcetrapib	increases expression	1
abrine	decreases expression	1

Clinical trials (associated diseases)

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