RAB6B

Summary

RAB6B (RAB6B, member RAS oncogene family, HGNC:14902) is a protein-coding gene on chromosome 3q22.1, encoding Ras-related protein Rab-6B (Q9NRW1). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.

Enables myosin V binding activity. Involved in Golgi organization and protein localization to Golgi membrane. Located in Golgi membrane; ciliary basal body; and nucleoplasm.

Source: NCBI Gene 51560 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 35 total
• MANE Select transcript: NM_016577

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14902
Approved symbol	RAB6B
Name	RAB6B, member RAS oncogene family
Location	3q22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000154917
Ensembl biotype	protein_coding
OMIM	615852
Entrez	51560

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000285208, ENST00000460865, ENST00000469959, ENST00000477759, ENST00000486858, ENST00000488969

RefSeq mRNA: 2 — MANE Select: NM_016577 NM_001363953, NM_016577

CCDS: CCDS3082, CCDS87137

Canonical transcript exons

ENST00000285208 — 8 exons

Exon	Start	End
ENSE00001078185	133834575	133834641
ENSE00001078188	133838166	133838259
ENSE00001409669	133824235	133828852
ENSE00001696426	133841285	133841390
ENSE00001829040	133895397	133895882
ENSE00002242736	133839506	133839617
ENSE00003463451	133841610	133841663
ENSE00003496756	133864584	133864642

Expression profiles

Bgee: expression breadth ubiquitous, 235 present calls, max score 99.29.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.3011 / max 904.2777, expressed in 1236 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
44673	7.9795	958
44672	2.4727	298
44675	1.9184	348
44665	1.6679	293
44663	0.9827	195
44670	0.6370	188
44671	0.6114	214
44674	0.3671	129
44666	0.2685	95
44667	0.1138	53

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lateral nuclear group of thalamus	UBERON:0002736	99.29	gold quality
frontal pole	UBERON:0002795	99.13	gold quality
Brodmann (1909) area 10	UBERON:0013541	99.12	gold quality
middle temporal gyrus	UBERON:0002771	99.05	gold quality
pons	UBERON:0000988	99.02	gold quality
substantia nigra pars compacta	UBERON:0001965	98.96	gold quality
Brodmann (1909) area 46	UBERON:0006483	98.90	gold quality
orbitofrontal cortex	UBERON:0004167	98.79	gold quality
superior frontal gyrus	UBERON:0002661	98.59	gold quality
substantia nigra pars reticulata	UBERON:0001966	98.45	gold quality
superior vestibular nucleus	UBERON:0007227	98.45	gold quality
parietal lobe	UBERON:0001872	98.23	gold quality
dorsal root ganglion	UBERON:0000044	98.18	gold quality
postcentral gyrus	UBERON:0002581	98.05	gold quality
prefrontal cortex	UBERON:0000451	98.04	gold quality
frontal cortex	UBERON:0001870	98.01	gold quality
frontal lobe	UBERON:0016525	98.01	gold quality
entorhinal cortex	UBERON:0002728	97.95	gold quality
lateral globus pallidus	UBERON:0002476	97.92	gold quality
CA1 field of hippocampus	UBERON:0003881	97.73	gold quality
neocortex	UBERON:0001950	97.70	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.70	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.69	gold quality
ventral tegmental area	UBERON:0002691	97.45	gold quality
right frontal lobe	UBERON:0002810	97.45	gold quality
occipital lobe	UBERON:0002021	97.40	gold quality
cerebral cortex	UBERON:0000956	97.38	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.30	gold quality
cingulate cortex	UBERON:0003027	97.23	gold quality
anterior cingulate cortex	UBERON:0009835	97.21	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	39.41
E-MTAB-6075	no	71.54
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

• Conformational changes in human neuronal Rab6B between its inactive GDP and active GTP-like state are observed mainly in the switch I and switch II regions, confirming their role as a molecular switch. (PMID:16790928)
• The brain-specific Rab6B via Bicaudal-D1 is linked to the dynein/dynactin complex, suggesting a regulatory role for Rab6B in the retrograde transport of cargo in neuronal cells. (PMID:17707369)
• DYNLRB1 specifically interacts with all three Rab6 isoforms and co-localises at the Golgi. (PMID:18044744)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rab6ba	ENSDARG00000034522
mus_musculus	Rab6b	ENSMUSG00000032549
rattus_norvegicus	Rab6b	ENSRNOG00000009198
caenorhabditis_elegans		WBGENE00004270

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-6B — Q9NRW1 (reviewed: Q9NRW1)

All UniProt accessions (5): Q9NRW1, C9J0I2, C9JB90, C9JU14, J3KR73

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 active GTP-bound and inactive GDP-bound states. In their active state, drive transport of vesicular carriers from donor organelles to acceptor organelles to regulate the membrane traffic that maintains organelle identity and morphology. Recruits VPS13B to the Golgi membrane. Regulates the compacted morphology of the Golgi. Seems to have a role in retrograde membrane traffic at the level of the Golgi complex. May function in retrograde transport in neuronal cells. Plays a role in neuron projection development.

Subunit / interactions. Interacts (GTP-bound) with BICD1 (via C-terminus); the interaction is direct. Interacts (GDP-bound) with DYNLRB1. Interacts (GTP-bound) with APBA1/MINT1 isoform 2, also called Mint1_826, but not with isoform 1. Interacts (GTP-bound) with VPS13B isoform 2.

Subcellular location. Golgi apparatus membrane. Endoplasmic reticulum-Golgi intermediate compartment. Cytoplasmic vesicle.

Tissue specificity. Predominantly expressed in brain.

Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase.

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.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NRW1-1	1	yes
Q9NRW1-2	2

RefSeq proteins (2): NP_001350882, NP_057661* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR050227	Rab	Family

Pfam: PF00071

Enzyme classification (BRENDA):

• EC 3.6.5.2 — small monomeric GTPase (BRENDA: 49 organisms, 138 substrates, 55 inhibitors, 5 Km, 1 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
GTP	—	0

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (45 total): binding site 20, helix 8, strand 6, short sequence motif 2, modified residue 2, lipid moiety-binding region 2, mutagenesis site 2, chain 1, splice variant 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
2E9S	X-RAY DIFFRACTION	1.78
2FFQ	X-RAY DIFFRACTION	1.78
2FE4	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NRW1-F1	85.97	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 (20): 39; 40; 42; 45; 45; 68; 71; 126; 127; 129; 156; 157 …

Post-translational modifications (4): 82, 208, 206, 208

Mutagenesis-validated functional residues (2):

Position	Phenotype
27	loss of apba1-binding. abolishes localization of vps13b to the golgi.
72	interacts with apba1. abolishes localization of vps13b to the golgi.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-6811436	COPI-independent Golgi-to-ER retrograde traffic
R-HSA-6811440	Retrograde transport at the Trans-Golgi-Network
R-HSA-8854214	TBC/RABGAPs
R-HSA-8873719	RAB geranylgeranylation
R-HSA-8876198	RAB GEFs exchange GTP for GDP on RABs

MSigDB gene sets: 227 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, AGGAAGC_MIR5163P, HOFFMANN_SMALL_PRE_BII_TO_IMMATURE_B_LYMPHOCYTE_DN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_NEUROGENESIS, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GGGTGGRR_PAX4_03, GOBP_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT, STARK_HYPPOCAMPUS_22Q11_DELETION_UP, BROWNE_HCMV_INFECTION_24HR_UP, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_PROTEIN_LOCALIZATION_TO_GOLGI_APPARATUS, GFI1_01

GO Biological Process (9): intracellular protein transport (GO:0006886), retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (GO:0006890), intra-Golgi vesicle-mediated transport (GO:0006891), Golgi organization (GO:0007030), neuron projection development (GO:0031175), retrograde transport, endosome to Golgi (GO:0042147), protein localization to Golgi membrane (GO:1903292), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192)

GO Molecular Function (8): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), myosin V binding (GO:0031489), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (9): Golgi membrane (GO:0000139), nucleoplasm (GO:0005654), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), cytosol (GO:0005829), endomembrane system (GO:0012505), cytoplasmic vesicle (GO:0031410), ciliary basal body (GO:0036064), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Rab regulation of trafficking	2
Golgi-to-ER retrograde transport	1
Intra-Golgi and retrograde Golgi-to-ER traffic	1
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	4
intracellular protein localization	2
Golgi vesicle transport	2
transport	2
intracellular membrane-bounded organelle	2
protein transport	1
intracellular transport	1
organelle organization	1
endomembrane system organization	1
neuron development	1
plasma membrane bounded cell projection organization	1
intercellular transport	1
endosomal transport	1
cytosolic transport	1
protein localization to Golgi apparatus	1
protein localization to membrane	1
establishment of protein localization	1
cellular process	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
molecular function regulator activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
myosin binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
Golgi apparatus	1
bounding membrane of organelle	1
nuclear lumen	1
endomembrane system	1
vacuole	1
plasma membrane	1
intracellular vesicle	1
microtubule organizing center	1
cilium	1

Protein interactions and networks

STRING

1586 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB6B	GDAP1	Q8TB36	769
RAB6B	TMF1	P82094	657
RAB6B	GCC2	Q8IWJ2	579
RAB6B	RIC1	Q4ADV7	552
RAB6B	RABGEF1	Q9UJ41	549
RAB6B	KIF20A	O95235	487
RAB6B	ANKRD27	Q96NW4	483
RAB6B	RIMS1	Q86UR5	458
RAB6B	ATCAY	Q86WG3	444
RAB6B	CDK18	Q07002	438
RAB6B	RAB3IL1	Q8TBN0	438
RAB6B	ESM1	Q9NQ30	433
RAB6B	RAB3IP	Q96QF0	431
RAB6B	SBF1	O95248	421
RAB6B	RIMS2	Q9UQ26	419

IntAct

107 interactions, top by confidence:

A	B	Type	Score
GDI1	RAB4A	psi-mi:“MI:0914”(association)	0.820
RAB6B	GDI1	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RAB6B	COG6	psi-mi:“MI:0915”(physical association)	0.700
SINHCAF	TNRC18	psi-mi:“MI:0914”(association)	0.640
SNRPB	SART1	psi-mi:“MI:0914”(association)	0.640
RAB6B	APBA1	psi-mi:“MI:0915”(physical association)	0.620
APBA1	RAB6B	psi-mi:“MI:0407”(direct interaction)	0.620
APBA1	RAB6B	psi-mi:“MI:2364”(proximity)	0.620
PMM1	RAB6B	psi-mi:“MI:0915”(physical association)	0.560
BICD2	RAB6B	psi-mi:“MI:0915”(physical association)	0.560
SH2B2	RAB6B	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	RAB6B	psi-mi:“MI:0915”(physical association)	0.560
RAP1GDS1	RAB6B	psi-mi:“MI:0915”(physical association)	0.560
TGFBR2	PIK3R2	psi-mi:“MI:0914”(association)	0.530
CNGA3	C2CD2L	psi-mi:“MI:0914”(association)	0.530
PCDHAC2	TMEM223	psi-mi:“MI:0914”(association)	0.530
TPCN2	AP3B1	psi-mi:“MI:0914”(association)	0.530
NUFIP1	PDE2A	psi-mi:“MI:0914”(association)	0.530
RAB6B	SBF1	psi-mi:“MI:0914”(association)	0.530
RAB6B	RAB6A	psi-mi:“MI:0914”(association)	0.530
MRPS34	MRPS12	psi-mi:“MI:0914”(association)	0.530
POP4	RPP40	psi-mi:“MI:0914”(association)	0.530

BioGRID (162): RAB6B (Affinity Capture-MS), RAB6B (Affinity Capture-MS), RAB6B (Affinity Capture-MS), RAB6B (Affinity Capture-MS), RAB6B (Affinity Capture-MS), RAB6B (Co-fractionation), RAB6B (Co-fractionation), RAB6B (Co-fractionation), RAB6B (Co-fractionation), RAB6B (Co-fractionation), RAB6B (Co-fractionation), RAB6B (Co-fractionation), RAB6B (Affinity Capture-MS), RAB6A (Affinity Capture-MS), RAB6C (Affinity Capture-MS)

ESM2 similar proteins: A6QR46, C4YL11, O00194, O18334, O23657, O49841, O80501, P0CY30, P0CY31, P10949, P17608, P20340, P34213, P35279, P35289, P35293, P36017, P55745, P59190, P61294, P62823, P62824, P90726, Q05976, Q0IIG8, Q17R06, Q1KME6, Q1RMR4, Q22782, Q54DA7, Q55FK2, Q5R5H5, Q5RAV6, Q5ZLG1, Q6DHC1, Q8CG50, Q8HZJ5, Q8K386, Q8MXS1, Q96E17

Diamond homologs: A4FV54, A6QR46, M0RC99, O18333, O18334, O80501, P05712, P11023, P16976, P17608, P18066, P20336, P20339, P20340, P22127, P22128, P24409, P25228, P29687, P31582, P31583, P34213, P35276, P35278, P35279, P35280, P35292, P36017, P36586, P36863, P49103, P49104, P51147, P51148, P53994, P55258, P61006, P61007, P61019, P61020

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
RAB6B	“down-regulates activity”	VPS13B	binding
RAB6B	“up-regulates activity”	VPS13B	binding
RAB6B	up-regulates	Neurite_outgrowth
KIF1C	“up-regulates quantity”	RAB6B	relocalization
RAB6B	up-regulates	Synaptic_vesicle_exocytosis

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1291 predictions. Top by Δscore:

Variant	Effect	Δscore
3:133834553:A:AC	donor_gain	1.0000
3:133834554:C:CC	donor_gain	1.0000
3:133834576:C:CA	donor_gain	1.0000
3:133834577:C:A	donor_gain	1.0000
3:133834638:AAAGC:A	acceptor_loss	1.0000
3:133834642:C:CC	acceptor_gain	1.0000
3:133834642:CTGG:C	acceptor_loss	1.0000
3:133834643:T:A	acceptor_loss	1.0000
3:133838160:CCTCA:C	donor_loss	1.0000
3:133838161:CTCA:C	donor_loss	1.0000
3:133838162:TCA:T	donor_loss	1.0000
3:133838163:CAC:C	donor_loss	1.0000
3:133838164:A:AC	donor_gain	1.0000
3:133838165:C:CC	donor_gain	1.0000
3:133838165:CCTG:C	donor_gain	1.0000
3:133838256:CTGC:C	acceptor_gain	1.0000
3:133838257:TGC:T	acceptor_gain	1.0000
3:133838258:GC:G	acceptor_gain	1.0000
3:133838259:CC:C	acceptor_gain	1.0000
3:133838260:C:CC	acceptor_gain	1.0000
3:133838266:A:AC	acceptor_gain	1.0000
3:133838266:A:C	acceptor_gain	1.0000
3:133839502:CTA:C	donor_loss	1.0000
3:133839503:TAC:T	donor_loss	1.0000
3:133839504:A:AC	donor_gain	1.0000
3:133839505:C:CC	donor_gain	1.0000
3:133839505:CCT:C	donor_gain	1.0000
3:133839619:T:A	acceptor_loss	1.0000
3:133841279:A:AC	donor_gain	1.0000
3:133841280:C:CC	donor_gain	1.0000

AlphaMissense

1385 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:133838193:A:C	S156R	1.000
3:133838193:A:T	S156R	1.000
3:133838195:T:G	S156R	1.000
3:133839526:C:A	K127N	1.000
3:133839526:C:G	K127N	1.000
3:133839527:T:A	K127M	1.000
3:133839527:T:G	K127T	1.000
3:133839528:T:C	K127E	1.000
3:133839529:G:C	N126K	1.000
3:133839529:G:T	N126K	1.000
3:133839533:C:T	G125D	1.000
3:133839534:C:G	G125R	1.000
3:133839575:A:T	V111D	1.000
3:133839586:C:A	W107C	1.000
3:133839586:C:G	W107C	1.000
3:133839588:A:G	W107R	1.000
3:133839588:A:T	W107R	1.000
3:133841308:G:T	A89D	1.000
3:133841317:G:A	S86F	1.000
3:133841317:G:T	S86Y	1.000
3:133841323:C:G	R84P	1.000
3:133841326:A:T	I83N	1.000
3:133841330:A:G	Y82H	1.000
3:133841331:G:C	S81R	1.000
3:133841331:G:T	S81R	1.000
3:133841333:T:G	S81R	1.000
3:133841341:A:G	L78P	1.000
3:133841341:A:T	L78Q	1.000
3:133841347:C:G	R76P	1.000
3:133841349:G:C	F75L	1.000

dbSNP variants (sampled 300 via entrez): RS1000286894 (3:133862226 T>G), RS1000317776 (3:133868286 G>A), RS1000326865 (3:133840751 C>T), RS1000356580 (3:133844607 C>G,T), RS1000360186 (3:133862487 T>A), RS1000464378 (3:133857375 A>T), RS1000481391 (3:133824186 T>C), RS1000591228 (3:133873638 T>C), RS1000613274 (3:133856916 G>A,C), RS1000697048 (3:133891292 G>T), RS1000732212 (3:133863012 A>C,G,T), RS1000749503 (3:133844924 C>T), RS1000800189 (3:133844686 C>A), RS1000869863 (3:133885769 C>A,T), RS1000943086 (3:133885979 G>A)

Disease associations

OMIM: gene MIM:615852 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001533_12	Immune reponse to smallpox (secreted IL-1beta)	7.000000e-08
GCST003264_1045	Post bronchodilator FEV1/FVC ratio	3.000000e-06
GCST004571_13	Iron status biomarkers (total iron binding capacity)	3.000000e-20
GCST004572_25	Iron status biomarkers (transferrin saturation)	3.000000e-20
GCST006585_330	Blood protein levels	1.000000e-17
GCST90002390_165	Mean corpuscular hemoglobin	1.000000e-09
GCST90002396_249	Mean reticulocyte volume	2.000000e-12

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004645	response to vaccine
EFO:0004873	cytokine measurement
EFO:0004713	FEV/FVC ratio
EFO:0006334	total iron binding capacity
EFO:0004527	mean corpuscular hemoglobin
EFO:0010701	mean reticulocyte volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	5
Cadmium Chloride	decreases expression, increases abundance, increases expression	4
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
OTX015	increases expression	1
mivebresib	increases expression	1
fluorene-9-bisphenol	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
decabromobiphenyl ether	increases expression	1
kojic acid	decreases expression	1
trichostatin A	decreases expression, increases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
tetrabromobisphenol A	increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	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	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
pentabrominated diphenyl ether 100	increases expression	1
jinfukang	affects cotreatment, increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arbutin	decreases expression	1
Arsenic	decreases expression, increases abundance, affects cotreatment	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1

Clinical trials (associated diseases)

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