RANBP3

Summary

RANBP3 (RAN binding protein 3, HGNC:9850) is a protein-coding gene on chromosome 19p13.3, encoding Ran-binding protein 3 (Q9H6Z4). Acts as a cofactor for XPO1/CRM1-mediated nuclear export, perhaps as export complex scaffolding protein. It is a selective cancer dependency (DepMap: 22.3% of cell lines).

This gene encodes a protein with a RanBD1 domain that is found in both the nucleus and cytoplasm. This protein plays a role in nuclear export as part of a heteromeric complex. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Source: NCBI Gene 8498 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 98 total
• Cancer dependency (DepMap): dependent in 22.3% of screened cell lines
• MANE Select transcript: NM_007322

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9850
Approved symbol	RANBP3
Name	RAN binding protein 3
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000031823
Ensembl biotype	protein_coding
OMIM	603327
Entrez	8498

Gene structure

Transcript identifiers

Ensembl transcripts: 41 — 20 protein_coding, 8 protein_coding_CDS_not_defined, 7 nonsense_mediated_decay, 6 retained_intron

ENST00000034275, ENST00000340578, ENST00000439268, ENST00000585339, ENST00000586117, ENST00000586344, ENST00000587159, ENST00000587263, ENST00000587411, ENST00000587463, ENST00000587479, ENST00000587799, ENST00000587956, ENST00000588010, ENST00000588879, ENST00000589353, ENST00000589886, ENST00000590623, ENST00000590953, ENST00000591092, ENST00000591124, ENST00000591333, ENST00000591736, ENST00000591881, ENST00000592133, ENST00000592197, ENST00000592266, ENST00000592621, ENST00000592771, ENST00000593025, ENST00000852117, ENST00000852118, ENST00000852119, ENST00000852120, ENST00000852121, ENST00000852122, ENST00000852123, ENST00000852124, ENST00000852125, ENST00000852126, ENST00000852127

RefSeq mRNA: 4 — MANE Select: NM_007322 NM_001300865, NM_003624, NM_007320, NM_007322

CCDS: CCDS42477, CCDS42478, CCDS45935, CCDS74268

Canonical transcript exons

ENST00000340578 — 17 exons

Exon	Start	End
ENSE00001370280	5916139	5917653
ENSE00003480158	5951393	5951596
ENSE00003508277	5931404	5931531
ENSE00003508562	5918496	5918638
ENSE00003519295	5941621	5941707
ENSE00003584823	5941799	5941835
ENSE00003622154	5923812	5923914
ENSE00003623126	5933414	5933479
ENSE00003656482	5932452	5932544
ENSE00003659808	5927968	5928087
ENSE00003662405	5917794	5917980
ENSE00003671258	5925634	5925737
ENSE00003673037	5978061	5978140
ENSE00003682316	5957918	5957973
ENSE00003760323	5921201	5921321
ENSE00003785035	5923194	5923303
ENSE00003788508	5924827	5924905

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 96.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.2779 / max 244.0114, expressed in 1814 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178582	20.2071	1807
178583	4.2430	1594
178584	0.8279	441

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	96.75	gold quality
ventricular zone	UBERON:0003053	95.93	gold quality
ganglionic eminence	UBERON:0004023	95.81	gold quality
cortical plate	UBERON:0005343	95.72	gold quality
stromal cell of endometrium	CL:0002255	95.54	gold quality
gall bladder	UBERON:0002110	95.20	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.97	gold quality
lower esophagus	UBERON:0013473	94.96	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.74	gold quality
left testis	UBERON:0004533	94.70	gold quality
muscle layer of sigmoid colon	UBERON:0035805	94.63	gold quality
mucosa of stomach	UBERON:0001199	94.48	gold quality
popliteal artery	UBERON:0002250	94.47	gold quality
tibial artery	UBERON:0007610	94.46	gold quality
right testis	UBERON:0004534	94.22	gold quality
body of uterus	UBERON:0009853	93.86	gold quality
aorta	UBERON:0000947	93.85	gold quality
colonic epithelium	UBERON:0000397	93.82	gold quality
right adrenal gland cortex	UBERON:0035827	93.76	gold quality
apex of heart	UBERON:0002098	93.73	gold quality
prefrontal cortex	UBERON:0000451	93.69	gold quality
ectocervix	UBERON:0012249	93.66	gold quality
left adrenal gland cortex	UBERON:0035825	93.57	gold quality
right adrenal gland	UBERON:0001233	93.56	gold quality
right lobe of thyroid gland	UBERON:0001119	93.52	gold quality
left adrenal gland	UBERON:0001234	93.47	gold quality
endocervix	UBERON:0000458	93.45	gold quality
skin of leg	UBERON:0001511	93.43	gold quality
adenohypophysis	UBERON:0002196	93.43	gold quality
left uterine tube	UBERON:0001303	93.35	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.45
E-MTAB-6142	no	203.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting RANBP3, 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-4481	100.00	66.42	1669
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-200A-5P	99.76	69.10	949
HSA-MIR-200B-5P	99.76	69.05	948
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-5007-3P	99.51	68.14	1242
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-5580-5P	99.38	66.96	1139

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 22.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 9)

• RanBP3 stimulates export by enhancing the affinity of Crm1 for Ran-GTP and cargo. (PMID:11932251)
• A multifunctional domain in CRM1 (exportin 1) mediates RanBP3 binding and multimerization of human T-cell leukemia virus type 1 Rex protein. (PMID:14612415)
• RANBP3 phosphorylation links the Ras and PI3-kinase pathways to nucleocytoplasmic transport. (PMID:18280241)
• RanBP3 directly recognizes dephosphorylated Smad2/3, which results from the activity of nuclear Smad phosphatases, and mediates nuclear export of Smad2/3 in a Ran-dependent manner. (PMID:19289081)
• Crystal structure of the Ran-binding domain (RBD) from RanBP3 and compare it to RBD structures from RanBP1 and RanBP2 in complex with Ran and CRM1. (PMID:21364925)
• RanBP3 is involved in vRNP nuclear export. The function of RanBP3 during vRNP nuclear export is regulated by phosphorylation at Ser58. RanBP3 phosphorylation is modulated by both PI3K/Akt and Ras/ERK/RSK pathways in the late phase of viral infection. (PMID:23303829)
• RANBP3 regulates melanoma cell proliferation and probably a potential target for molecular targeted therapy. (PMID:26763446)
• Computational docking simulation indicates that phosphorylation of RanBP3 at Ser58 could potentially stabilize the association of RanBP3 with importin-alpha through interactions between the phosphate moiety of phospho-Ser58 of RanBP3 and a cluster of basic residues (Arg96 and Lys97 in importin-alpha3) on armadillo repeat 1 of importin-alpha. (PMID:28760339)
• Ran-binding protein 3 is associated with human spermatogenesis and male infertility. (PMID:31833110)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ranbp3b	ENSDARG00000069056
mus_musculus	Ranbp3	ENSMUSG00000002372
rattus_norvegicus	Ranbp3	ENSRNOG00000049785

Paralogs (10): RGPD5 (ENSG00000015568), RANBP1 (ENSG00000099901), RGPD3 (ENSG00000153165), RANBP2 (ENSG00000153201), RANBP3L (ENSG00000164188), RGPD8 (ENSG00000169629), RGPD6 (ENSG00000183054), RGPD2 (ENSG00000185304), RGPD1 (ENSG00000187627), RGPD4 (ENSG00000196862)

Protein

Protein identifiers

Ran-binding protein 3 — Q9H6Z4 (reviewed: Q9H6Z4)

All UniProt accessions (14): B7Z7F3, Q9H6Z4, K7EID7, K7EIJ4, K7EJ17, K7EMH9, K7EMT3, K7EN31, K7ENB9, K7ENJ2, K7EPW1, K7EQB8, K7ERD4, K7ESQ0

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a cofactor for XPO1/CRM1-mediated nuclear export, perhaps as export complex scaffolding protein. Bound to XPO1/CRM1, stabilizes the XPO1/CRM1-cargo interaction. In the absence of Ran-bound GTP prevents binding of XPO1/CRM1 to the nuclear pore complex. Binds to CHC1/RCC1 and increases the guanine nucleotide exchange activity of CHC1/RCC1. Recruits XPO1/CRM1 to CHC1/RCC1 in a Ran-dependent manner. Negative regulator of TGF-beta signaling through interaction with the R-SMAD proteins, SMAD2 and SMAD3, and mediating their nuclear export.

Subunit / interactions. Interacts with CHC1 in a Ran-stimulated manner. Interacts with XPO1. Interacts (via its C-terminal R domain) with SMAD2 (dephosphorylated form via its MH1 and MH2 domains); the interaction results in the nuclear export of SMAD2 and termination of the TGF-beta signaling. Interacts (via its C-terminal R domain) with SMAD3 (dephosphorylated form via its MH1 domain); the interaction results in the nuclear export of SMAD3 and termination of the TGF-beta signaling.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Widely expressed with high levels in testis and heart.

Post-translational modifications. Phosphorylation at Ser-126 promotes its import into the nucleus.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9H6Z4-1	1	yes
Q9H6Z4-2	2, Ranbp3-a
Q9H6Z4-3	3, Ranbp3-b

RefSeq proteins (4): NP_001287794, NP_003615, NP_015559, NP_015561* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000156	Ran_bind_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR045255	RanBP1-like	Family

Pfam: PF00638

UniProt features (55 total): modified residue 15, compositionally biased region 8, mutagenesis site 8, strand 7, turn 4, region of interest 3, splice variant 2, sequence conflict 2, initiator methionine 1, chain 1, domain 1, sequence variant 1, helix 1, short sequence motif 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
2Y8G	X-RAY DIFFRACTION	1.61
2Y8F	X-RAY DIFFRACTION	2.1
5XZX	X-RAY DIFFRACTION	3
2CRF	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H6Z4-F1	62.67	0.23

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 (15): 2, 9, 21, 75, 100, 101, 108, 124, 126, 219, 333, 353, 355, 372, 539

Mutagenesis-validated functional residues (8):

Position	Phenotype
110	does not affect nuclear import.
117–118	does not affect nuclear import.
117	does not affect nuclear import.
118	does not affect nuclear import.
120	impaired nuclear import.
121	abolished nuclear import.
126	abolished translocation into the nucleus.
221	does not affect translocation into the nucleus.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 121 (showing top): TGCGCANK_UNKNOWN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOMF_GTPASE_BINDING, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, GOBP_NUCLEAR_TRANSPORT, DOANE_RESPONSE_TO_ANDROGEN_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_NUCLEAR_EXPORT, GOMF_SMAD_BINDING, DANG_BOUND_BY_MYC, MODULE_95, MILI_PSEUDOPODIA_CHEMOTAXIS_DN, RAMASWAMY_METASTASIS_DN, GOCC_NUCLEAR_ENVELOPE

GO Biological Process (3): protein export from nucleus (GO:0006611), protein transport (GO:0015031), intracellular transport (GO:0046907)

GO Molecular Function (4): small GTPase binding (GO:0031267), R-SMAD binding (GO:0070412), protein binding (GO:0005515), SMAD binding (GO:0046332)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
intracellular anatomical structure	2
cellular anatomical structure	2
intracellular protein transport	1
nuclear export	1
intracellular protein localization	1
establishment of protein localization	1
cellular localization	1
establishment of localization in cell	1
GTPase binding	1
SMAD binding	1
binding	1
protein binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1

Protein interactions and networks

STRING

1582 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RANBP3	RANBP1	P43487	957
RANBP3	RANGAP1	P46060	903
RANBP3	RCC1	P18754	887
RANBP3	XPO1	O14980	847
RANBP3	SMAD2	Q15796	705
RANBP3	SMAD3	P84022	702
RANBP3	NUP214	P35658	647
RANBP3	XPO4	Q9C0E2	644
RANBP3	RPS6KA2	Q15349	591
RANBP3	RAN	P17080	588
RANBP3	NUP153	P49790	587
RANBP3	RPS6KA3	P51812	579
RANBP3	RPS6KA1	Q15418	576
RANBP3	IPO5	O00410	569
RANBP3	RABIF	P47224	561

IntAct

49 interactions, top by confidence:

A	B	Type	Score
KPNA4	MYC	psi-mi:“MI:0915”(physical association)	0.780
JADE1	KAT7	psi-mi:“MI:0914”(association)	0.720
RANGRF	RAN	psi-mi:“MI:0914”(association)	0.640
GPX7	GAK	psi-mi:“MI:0914”(association)	0.640
NCK2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.640
RANBP3	PPM1A	psi-mi:“MI:0407”(direct interaction)	0.600
PPM1A	RANBP3	psi-mi:“MI:0407”(direct interaction)	0.600
RANBP3	PPM1A	psi-mi:“MI:0915”(physical association)	0.600
PPM1A	RANBP3	psi-mi:“MI:0915”(physical association)	0.600
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
KPNA4	RANBP3	psi-mi:“MI:0915”(physical association)	0.540
KPNA4	RANBP3	psi-mi:“MI:0407”(direct interaction)	0.540
RDH12	NME2P1	psi-mi:“MI:0914”(association)	0.530
SGSM1	CETN2	psi-mi:“MI:0914”(association)	0.530
RCC1	RANBP3	psi-mi:“MI:0915”(physical association)	0.510
MORN4	UEVLD	psi-mi:“MI:0914”(association)	0.500
SMAD3	RANBP3	psi-mi:“MI:0915”(physical association)	0.400
RANBP3	SMAD2	psi-mi:“MI:0915”(physical association)	0.400
SMAD2	RANBP3	psi-mi:“MI:0915”(physical association)	0.400
RANBP3	RAN	psi-mi:“MI:0915”(physical association)	0.400
RANBP3	BLZF1	psi-mi:“MI:0915”(physical association)	0.370
ALB	CNOT1	psi-mi:“MI:0914”(association)	0.350
RHOA	TAX1BP3	psi-mi:“MI:0914”(association)	0.350
YWHAH	SHTN1	psi-mi:“MI:0914”(association)	0.350
SAR1B	UBA6	psi-mi:“MI:0914”(association)	0.350
XPO1	RGPD3	psi-mi:“MI:0914”(association)	0.350
AZU1	UBA6	psi-mi:“MI:0914”(association)	0.350
DDX28	UBA6	psi-mi:“MI:0914”(association)	0.350

BioGRID (127): RANBP3 (Two-hybrid), BLZF1 (Two-hybrid), ZMIZ2 (Two-hybrid), MORN4 (Two-hybrid), KRTAP10-8 (Two-hybrid), RANBP3 (Affinity Capture-RNA), RANBP3 (Affinity Capture-RNA), PPARG (Affinity Capture-Western), XPO1 (Affinity Capture-Western), RAN (Co-fractionation), RCC1 (Co-fractionation), SMARCD1 (Co-fractionation), SMARCD3 (Co-fractionation), RANBP3 (Affinity Capture-MS), RANBP3 (Two-hybrid)

ESM2 similar proteins: A1L1M4, A4IFM7, B1H224, B8QB46, F8VPQ2, O75475, O96028, P27123, P29374, P51858, P51859, Q08DU9, Q13029, Q32N87, Q3TEA8, Q3UMU9, Q3UYG8, Q5SSJ5, Q5TGJ6, Q5XXA7, Q5XXA9, Q5ZM33, Q66T72, Q6IR42, Q6P2L6, Q6P4K1, Q6P747, Q7Z4V5, Q811Q2, Q812D1, Q8BLG0, Q8BVE8, Q8C551, Q8C9B9, Q8CCG4, Q8MJG1, Q8VHK7, Q923W4, Q925G1, Q96T23

Diamond homologs: A0A0B4K7J2, A6NKT7, G0S8I1, H2QII6, O14715, P0DJD0, P0DJD1, P32499, P40517, P41920, P48820, P49792, P92985, Q09146, Q09717, Q4R4T9, Q54KD9, Q5R4Y2, Q7Z3J3, Q86VV4, Q8RWG8, Q99666, Q9C829, Q9CT10, Q9ERU9, Q9H6Z4, Q9LMK7, Q9LW88, P34022, P43487, Q3T0M7, Q6PDH4, Q9USL4, G0SDP9

SIGNOR signaling

12 interactions.

A	Effect	B	Mechanism
AKT	unknown	RANBP3	phosphorylation
RPS6KA1	unknown	RANBP3	phosphorylation
RANBP3	down-regulates	SMAD3	relocalization
RANBP3	“down-regulates activity”	SMAD2	relocalization
RANBP3	“down-regulates activity”	SMAD3	relocalization
AKT1	unknown	RANBP3	phosphorylation
RPS6K	unknown	RANBP3	phosphorylation
RPS6KA3	“up-regulates quantity”	RANBP3	phosphorylation
RPS6KA1	“up-regulates quantity”	RANBP3	phosphorylation
AKT	“up-regulates quantity”	RANBP3	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	75
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2851 predictions. Top by Δscore:

Variant	Effect	Δscore
19:5917790:TCA:T	donor_loss	1.0000
19:5917792:A:AC	donor_gain	1.0000
19:5917792:AC:A	donor_gain	1.0000
19:5917792:ACCAG:A	donor_gain	1.0000
19:5917793:C:CT	donor_gain	1.0000
19:5917793:CC:C	donor_gain	1.0000
19:5917793:CCAG:C	donor_gain	1.0000
19:5917793:CCAGC:C	donor_gain	1.0000
19:5917976:CTGGC:C	acceptor_gain	1.0000
19:5917977:TGGC:T	acceptor_gain	1.0000
19:5917979:GC:G	acceptor_gain	1.0000
19:5917980:CC:C	acceptor_gain	1.0000
19:5917981:C:CC	acceptor_gain	1.0000
19:5918492:TCA:T	donor_loss	1.0000
19:5918494:A:AC	donor_gain	1.0000
19:5918495:C:CT	donor_gain	1.0000
19:5918495:CCGAG:C	donor_gain	1.0000
19:5918518:C:CA	donor_gain	1.0000
19:5918634:CATCA:C	acceptor_gain	1.0000
19:5918635:ATCA:A	acceptor_gain	1.0000
19:5918636:TCA:T	acceptor_gain	1.0000
19:5918637:CA:C	acceptor_gain	1.0000
19:5918637:CAC:C	acceptor_gain	1.0000
19:5918638:AC:A	acceptor_loss	1.0000
19:5918639:C:CC	acceptor_gain	1.0000
19:5918640:T:G	acceptor_loss	1.0000
19:5921195:GCTCA:G	donor_loss	1.0000
19:5921196:CTCA:C	donor_loss	1.0000
19:5921197:TCACC:T	donor_loss	1.0000
19:5921198:CACC:C	donor_loss	1.0000

AlphaMissense

3697 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:5917934:C:G	R507P	1.000
19:5917935:G:T	R507S	1.000
19:5917943:A:G	L504P	1.000
19:5918503:A:G	L489P	1.000
19:5918539:G:T	A477D	1.000
19:5918540:C:G	A477P	1.000
19:5918601:G:C	N456K	1.000
19:5918601:G:T	N456K	1.000
19:5918605:A:G	L455P	1.000
19:5918611:A:G	L453P	1.000
19:5918617:A:G	L451P	1.000
19:5918619:G:C	S450R	1.000
19:5918619:G:T	S450R	1.000
19:5918621:T:G	S450R	1.000
19:5918623:C:T	G449E	1.000
19:5918624:C:G	G449R	1.000
19:5918624:C:T	G449R	1.000
19:5921203:A:G	L443P	1.000
19:5921206:C:G	R442P	1.000
19:5921207:G:C	R442G	1.000
19:5921242:T:A	D430V	1.000
19:5921243:C:G	D430H	1.000
19:5921244:A:C	N429K	1.000
19:5921244:A:T	N429K	1.000
19:5921248:A:G	L428P	1.000
19:5921248:A:T	L428H	1.000
19:5921254:A:C	L426R	1.000
19:5921254:A:G	L426P	1.000
19:5921254:A:T	L426H	1.000
19:5921260:C:T	G424E	1.000

dbSNP variants (sampled 300 via entrez): RS1000082920 (19:5926745 C>A), RS1000111991 (19:5964373 C>T), RS1000144538 (19:5964620 G>C), RS1000176630 (19:5979186 C>G), RS1000211866 (19:5979505 TAC>T), RS1000284623 (19:5942649 C>T), RS1000333493 (19:5932799 G>A,C), RS1000366091 (19:5970352 C>T), RS1000381866 (19:5974325 T>C), RS1000399747 (19:5942952 C>T), RS1000404433 (19:5976474 G>A), RS1000431660 (19:5926488 T>C,G), RS1000542884 (19:5928323 A>G), RS1000562738 (19:5947487 C>T), RS1000581718 (19:5941326 A>C)

Disease associations

OMIM: gene MIM:603327 | 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
GCST90002394_434	Monocyte percentage of white cells	4.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007989	monocyte percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, increases expression	2
Benzo(a)pyrene	affects methylation	2
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
beta-lapachone	decreases expression, increases expression	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
coumarin	increases phosphorylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
CGP 52608	increases reaction, affects binding	1
Resveratrol	decreases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Atrazine	decreases expression	1
Caffeine	affects phosphorylation	1
Cuprizone	affects cotreatment, decreases expression	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Estradiol	decreases expression	1
Haloperidol	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Methapyrilene	decreases methylation	1
Mustard Gas	increases phosphorylation	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Ribonucleotides	affects binding	1
Selenium	increases expression	1
Smoke	increases abundance, increases expression	1
Urethane	increases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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