RAB8B

Summary

RAB8B (RAB8B, member RAS oncogene family, HGNC:30273) is a protein-coding gene on chromosome 15q22.2, encoding Ras-related protein Rab-8B (Q92930). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.

RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).

Source: NCBI Gene 51762 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 21 total
• MANE Select transcript: NM_016530

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30273
Approved symbol	RAB8B
Name	RAB8B, member RAS oncogene family
Location	15q22.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000166128
Ensembl biotype	protein_coding
OMIM	613532
Entrez	51762

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 3 nonsense_mediated_decay

ENST00000321437, ENST00000558119, ENST00000558990, ENST00000559006, ENST00000559927, ENST00000862331, ENST00000862332, ENST00000862333

RefSeq mRNA: 1 — MANE Select: NM_016530 NM_016530

CCDS: CCDS10183

Canonical transcript exons

ENST00000321437 — 8 exons

Exon	Start	End
ENSE00000940983	63189606	63189748
ENSE00001262484	63263527	63267776
ENSE00003502690	63244756	63244816
ENSE00003569229	63255507	63255584
ENSE00003594906	63262692	63262742
ENSE00003633674	63259627	63259692
ENSE00003635269	63256505	63256594
ENSE00003672464	63249645	63249705

Expression profiles

Bgee: expression breadth ubiquitous, 270 present calls, max score 97.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.4881 / max 908.3228, expressed in 1807 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
147112	44.3147	1807
147113	0.1734	63

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	97.45	gold quality
calcaneal tendon	UBERON:0003701	96.31	gold quality
superficial temporal artery	UBERON:0001614	96.16	gold quality
secondary oocyte	CL:0000655	95.92	gold quality
trabecular bone tissue	UBERON:0002483	95.52	gold quality
ventricular zone	UBERON:0003053	95.51	gold quality
germinal epithelium of ovary	UBERON:0001304	95.43	gold quality
male germ cell	CL:0000015	95.33	gold quality
monocyte	CL:0000576	95.00	gold quality
vena cava	UBERON:0004087	95.00	gold quality
pericardium	UBERON:0002407	94.72	gold quality
ganglionic eminence	UBERON:0004023	94.72	gold quality
mononuclear cell	CL:0000842	94.69	gold quality
lower lobe of lung	UBERON:0008949	94.65	gold quality
leukocyte	CL:0000738	94.61	gold quality
jejunal mucosa	UBERON:0000399	94.47	gold quality
bone marrow	UBERON:0002371	94.47	gold quality
visceral pleura	UBERON:0002401	94.05	gold quality
blood	UBERON:0000178	93.94	gold quality
synovial joint	UBERON:0002217	93.91	gold quality
lymph node	UBERON:0000029	93.63	gold quality
parietal pleura	UBERON:0002400	93.50	gold quality
substantia nigra pars compacta	UBERON:0001965	93.38	gold quality
substantia nigra pars reticulata	UBERON:0001966	93.16	gold quality
skin of hip	UBERON:0001554	93.06	gold quality
epithelium of nasopharynx	UBERON:0001951	92.90	gold quality
trigeminal ganglion	UBERON:0001675	92.63	gold quality
lateral nuclear group of thalamus	UBERON:0002736	92.61	gold quality
oocyte	CL:0000023	92.59	gold quality
dorsal root ganglion	UBERON:0000044	92.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-7381	yes	613.54
E-MTAB-8498	yes	9.24
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

301 targeting RAB8B, 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-3163	100.00	77.23	8605
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-340-5P	100.00	72.50	4437
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-5692A	100.00	74.40	6850
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4500	99.99	72.72	2367
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-223-3P	99.99	70.14	1140
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4775	99.98	75.00	6394

Literature-anchored findings (GeneRIF, showing 3)

• Rab8A GTPase Ser(111) phosphorylation is not directly regulated by PINK1 in vitro and demonstrate in cells the time course of Ser(111) phosphorylation of Rab8A, 8B and 13 is markedly delayed compared to phosphorylation of Parkin at Ser(65). (PMID:26471730)
• there is significant upregulation of RAB8B in patients with rs1986112 GG and AG genotype compared to AA genotype, suggesting a role in schizophrenia development (PMID:30969072)
• Rab8 GTPase can regulate Klotho-mediated inhibition of Wnt signaling activity by modulating translocation of Klotho onto the cell surface. (PMID:31707148)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	rab8b	ENSDARG00000068628
danio_rerio		ENSDARG00000103934
mus_musculus	Rab8b	ENSMUSG00000036943
rattus_norvegicus	Rab8b	ENSRNOG00000018009
drosophila_melanogaster	Rab8	FBGN0262518
caenorhabditis_elegans	rab-8	WBGENE00004272

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-8B — Q92930 (reviewed: Q92930)

All UniProt accessions (5): Q92930, H0YL94, H0YLJ8, H0YMN7, H0YNE9

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. RAB8B may be involved in polarized vesicular trafficking and neurotransmitter release. May participate in cell junction dynamics in Sertoli cells. May also participate in the export of a subset of neosynthesized proteins through a Rab8-Rab10-Rab11-dependent endososomal export route.

Subunit / interactions. Associated with actin, delta-catenin and alpha and beta tubulins. Interacts with OTOF. Interacts with PEX5R. Interacts with RAB3IP. Interacts with VIM. Interacts with CDH1. Interacts with MICALL2. Interacts with GDI1, GDI2, CHML and CHM; phosphorylation at Thr-72 disrupts these interactions. Interacts with MICAL1.

Subcellular location. Cell membrane. Cytoplasmic vesicle. Phagosome. Phagosome membrane. Endosome membrane.

Post-translational modifications. Phosphorylation of Thr-72 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitors GDI1 and GDI2.

Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) including RAB3IP/RABIN8 which promotes 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).

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_057614* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF00071

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (29 total): binding site 19, modified residue 3, short sequence motif 2, mutagenesis site 2, chain 1, propeptide 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92930-F1	86.99	0.71

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 (19): 22; 23; 35; 39; 40; 40; 63; 66; 121; 122; 124; 152 …

Post-translational modifications (4): 72, 180, 204, 204

Mutagenesis-validated functional residues (2):

Position	Phenotype
72	loss of phosphorylation. no effect on gdi1 and gdi2 binding. reduced binding to chm and chml.
72	phosphomimetic mutant. loss of binding to gdi1, gdi2, chm, and chml.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8854214	TBC/RABGAPs
R-HSA-8873719	RAB geranylgeranylation
R-HSA-8876198	RAB GEFs exchange GTP for GDP on RABs

MSigDB gene sets: 437 (showing top): MODULE_97, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, ATACCTC_MIR202, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, MODULE_182, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, ACTGCAG_MIR173P, GOBP_CELL_CELL_SIGNALING, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_EXOCYTOSIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CELL_JUNCTION_ORGANIZATION

GO Biological Process (8): exocytosis (GO:0006887), antigen processing and presentation (GO:0019882), positive regulation of cell projection organization (GO:0031346), endocytic recycling (GO:0032456), protein import into peroxisome membrane (GO:0045046), positive regulation of corticotropin secretion (GO:0051461), cell-substrate junction organization (GO:0150115), protein transport (GO:0015031)

GO Molecular Function (10): GTPase activity (GO:0003924), G protein activity (GO:0003925), signaling receptor binding (GO:0005102), GTP binding (GO:0005525), GDP binding (GO:0019003), TPR domain binding (GO:0030911), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (17): endosome (GO:0005768), peroxisomal membrane (GO:0005778), plasma membrane (GO:0005886), synaptic vesicle (GO:0008021), endosome membrane (GO:0010008), trans-Golgi network transport vesicle (GO:0030140), phagocytic vesicle membrane (GO:0030670), phagocytic vesicle (GO:0045335), perinuclear region of cytoplasm (GO:0048471), cell tip (GO:0051286), recycling endosome membrane (GO:0055038), extracellular exosome (GO:0070062), membrane (GO:0016020), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410), recycling endosome (GO:0055037), presynapse (GO:0098793)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Rab regulation of trafficking	2
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
guanyl ribonucleotide binding	2
cytoplasmic vesicle	2
endosome	2
cytoplasm	2
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
immune system process	1
cell projection organization	1
regulation of cell projection organization	1
positive regulation of cellular component organization	1
endosomal transport	1
vesicle-mediated transport to the plasma membrane	1
intracellular protein transport	1
peroxisomal membrane transport	1
protein localization to membrane	1
protein localization to peroxisome	1
establishment of protein localization to peroxisome	1
establishment of protein localization to membrane	1
positive regulation of multicellular organismal process	1
corticotropin secretion	1
regulation of corticotropin secretion	1
positive regulation of peptide hormone secretion	1
cell junction organization	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
molecular function regulator activity	1
protein binding	1
purine ribonucleoside triphosphate binding	1
anion binding	1
protein domain specific binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1

Protein interactions and networks

STRING

1570 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB8B	PEX5L	Q8IYB4	933
RAB8B	OTOF	Q9HC10	902
RAB8B	TBK1	Q9UHD2	764
RAB8B	RAB3IP	Q96QF0	719
RAB8B	JUP	P14923	678
RAB8B	TUBB2A	Q13885	648
RAB8B	TUBB	P05218	639
RAB8B	SNCAIP	Q9Y6H5	615
RAB8B	PLD1	Q13393	603
RAB8B	RAB3IL1	Q8TBN0	586
RAB8B	VIM	P08670	569
RAB8B	OCRL	Q01968	523
RAB8B	RABGEF1	Q9UJ41	482
RAB8B	RILPL2	Q969X0	479
RAB8B	CALML3	P27482	479

IntAct

37 interactions, top by confidence:

A	B	Type	Score
RAB8B	GDI1	psi-mi:“MI:0914”(association)	0.640
RAB8A	WDR91	psi-mi:“MI:0914”(association)	0.600
RAB8B	BLTP3B	psi-mi:“MI:0914”(association)	0.530
RAB1B	CHM	psi-mi:“MI:0914”(association)	0.530
GRB2	RAB8B	psi-mi:“MI:0915”(physical association)	0.400
Cul3		psi-mi:“MI:0914”(association)	0.350
CD177	MYO1G	psi-mi:“MI:0914”(association)	0.350
RPH3A	RAB27A	psi-mi:“MI:0914”(association)	0.350
PPM1H	ACACB	psi-mi:“MI:0914”(association)	0.350
	LRPPRC	psi-mi:“MI:0914”(association)	0.350
Inpp5b	PSMD11	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
GDI1	U2SURP	psi-mi:“MI:0914”(association)	0.350
GDI2	SGTA	psi-mi:“MI:0914”(association)	0.350
PSMB1	PSMD1	psi-mi:“MI:0914”(association)	0.350
RABIF	RAD21	psi-mi:“MI:0914”(association)	0.350
MPC1	MGST3	psi-mi:“MI:0914”(association)	0.350
NPPB	ACOT7	psi-mi:“MI:0914”(association)	0.350
RABIF	SRP14	psi-mi:“MI:0914”(association)	0.350
SLC39A12	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A2	AGPAT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (128): RAB8B (Affinity Capture-MS), GDI1 (Co-fractionation), GDI2 (Co-fractionation), HSD17B10 (Co-fractionation), RAB8B (Co-fractionation), RAB8B (Co-fractionation), RAB8B (Co-fractionation), RAB8B (Co-fractionation), RAB8B (Co-fractionation), RAB8B (Co-fractionation), RAB8B (Affinity Capture-MS), MICALL2 (Affinity Capture-MS), RAB8A (Affinity Capture-MS), GDI1 (Affinity Capture-MS), MICALL1 (Affinity Capture-MS)

ESM2 similar proteins: A4FV54, F1PTE3, O24466, O42819, P01123, P11620, P17609, P20790, P20791, P22127, P22128, P24409, P31584, P33723, P34139, P34140, P35280, P35281, P35286, P36410, P51153, P55258, P61006, P61007, P61026, P61027, P61028, P62820, P62821, P62822, P70550, Q05974, Q2HJI8, Q39571, Q4R5P1, Q52NJ2, Q54NU2, Q58DS5, Q5F470, Q5KTJ6

Diamond homologs: A4D1S5, A4FV54, F1PTE3, O04486, O24466, O76173, P01123, P10536, P11620, P16976, P17609, P20790, P20791, P22125, P22128, P28186, P28188, P31584, P33723, P34139, P34140, P35280, P35286, P35294, P36410, P36863, P40392, P51153, P51156, P53994, P55258, P59279, P61006, P61007, P61019, P61028, P61105, P62820, P62821, P62822

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 44 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
RAB GEFs exchange GTP for GDP on RABs	6	21.9×	1e-04
Neutrophil degranulation	8	5.4×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1699 predictions. Top by Δscore:

Variant	Effect	Δscore
15:63189755:G:T	donor_gain	1.0000
15:63215557:A:T	donor_gain	1.0000
15:63219890:T:A	acceptor_gain	1.0000
15:63255501:TTATA:T	acceptor_loss	1.0000
15:63255502:TATAG:T	acceptor_loss	1.0000
15:63255504:TA:T	acceptor_loss	1.0000
15:63255505:A:AG	acceptor_gain	1.0000
15:63255505:A:T	acceptor_loss	1.0000
15:63255505:AG:A	acceptor_gain	1.0000
15:63255506:G:GG	acceptor_gain	1.0000
15:63255506:GG:G	acceptor_gain	1.0000
15:63255506:GGGC:G	acceptor_gain	1.0000
15:63256502:CAGCA:C	acceptor_loss	1.0000
15:63256503:A:AC	acceptor_loss	1.0000
15:63256503:A:AG	acceptor_gain	1.0000
15:63256504:G:GG	acceptor_gain	1.0000
15:63256504:GC:G	acceptor_gain	1.0000
15:63256504:GCAT:G	acceptor_gain	1.0000
15:63256637:T:G	donor_gain	1.0000
15:63256637:T:TG	donor_gain	1.0000
15:63259622:TTCA:T	acceptor_loss	1.0000
15:63259625:A:AG	acceptor_gain	1.0000
15:63259625:A:C	acceptor_loss	1.0000
15:63259626:G:C	acceptor_loss	1.0000
15:63259626:G:GA	acceptor_gain	1.0000
15:63259626:GCT:G	acceptor_gain	1.0000
15:63259626:GCTA:G	acceptor_gain	1.0000
15:63259688:AAGAG:A	donor_loss	1.0000
15:63259690:GAG:G	donor_gain	1.0000
15:63259690:GAGGT:G	donor_loss	1.0000

AlphaMissense

1373 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:63189667:G:C	G15R	1.000
15:63189667:G:T	G15C	1.000
15:63189668:G:A	G15D	1.000
15:63189668:G:T	G15V	1.000
15:63189682:G:C	G20R	1.000
15:63189683:G:A	G20D	1.000
15:63189683:G:T	G20V	1.000
15:63189685:A:C	K21Q	1.000
15:63189686:A:T	K21M	1.000
15:63189689:C:T	T22I	1.000
15:63189721:T:C	F33L	1.000
15:63189723:C:A	F33L	1.000
15:63189723:C:G	F33L	1.000
15:63189743:C:T	T40I	1.000
15:63189746:T:A	I41N	1.000
15:63189748:G:A	G42R	1.000
15:63189748:G:C	G42R	1.000
15:63244756:G:A	G42E	1.000
15:63244764:T:C	F45L	1.000
15:63244766:T:A	F45L	1.000
15:63244766:T:G	F45L	1.000
15:63244807:T:C	L59P	1.000
15:63244813:T:A	I61K	1.000
15:63244815:T:A	W62R	1.000
15:63244815:T:C	W62R	1.000
15:63249645:G:C	W62C	1.000
15:63249645:G:T	W62C	1.000
15:63249646:G:C	D63H	1.000
15:63249646:G:T	D63Y	1.000
15:63249647:A:C	D63A	1.000

dbSNP variants (sampled 300 via entrez): RS1000012683 (15:63214289 T>C), RS1000042830 (15:63232416 T>A), RS1000044331 (15:63247618 A>G), RS1000046160 (15:63191456 G>A,C), RS1000070339 (15:63188145 G>A), RS1000102746 (15:63262216 G>A), RS1000104970 (15:63253698 G>A,T), RS1000132777 (15:63238419 G>A), RS1000173817 (15:63206741 A>G), RS1000197195 (15:63198248 A>G), RS1000287171 (15:63245000 T>C), RS1000322021 (15:63235356 A>G), RS1000397078 (15:63247959 A>G), RS1000421784 (15:63188036 G>A,T), RS1000488993 (15:63252067 C>T)

Disease associations

OMIM: gene MIM:613532 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002367_17	Social communication problems	5.000000e-06
GCST006249_36	Serum metabolite levels	5.000000e-15
GCST010002_172	Refractive error	6.000000e-36

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005427	social communication impairment

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	affects expression, increases expression	3
sodium arsenite	increases expression, decreases expression	2
bisphenol S	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
ethylbenzene	increases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	increases expression	1
trichostatin A	affects expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sulforaphane	increases expression	1
perfluorooctanoic acid	decreases expression	1
2-xylene	increases expression	1
nickel sulfate	increases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	affects expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
Bortezomib	decreases expression	1
Vorinostat	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Atrazine	increases expression	1
Benzene	increases expression	1
Cisplatin	increases expression	1
Demecolcine	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A6ZY	HeLa M Rab8-DKO	Cancer cell line	Female

Clinical trials (associated diseases)

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