SNX18

Summary

SNX18 (sorting nexin 18, HGNC:19245) is a protein-coding gene on chromosome 5q11.2, encoding Sorting nexin-18 (Q96RF0). Involved in endocytosis and intracellular vesicle trafficking, both during interphase and at the end of mitosis.

This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a SH3 domain. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 112574 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 117 total
• MANE Select transcript: NM_001102575

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19245
Approved symbol	SNX18
Name	sorting nexin 18
Location	5q11.2
Locus type	gene with protein product
Status	Approved
Aliases	SH3PX2, SH3PXD3B
Ensembl gene	ENSG00000178996
Ensembl biotype	protein_coding
OMIM	621000
Entrez	112574

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000326277, ENST00000343017, ENST00000381410, ENST00000852109, ENST00000852110

RefSeq mRNA: 3 — MANE Select: NM_001102575 NM_001102575, NM_001145427, NM_052870

CCDS: CCDS3962, CCDS43317, CCDS54851

Canonical transcript exons

ENST00000381410 — 2 exons

Exon	Start	End
ENSE00001488540	54517759	54519573
ENSE00001676293	54543179	54546586

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 99.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.9766 / max 728.7351, expressed in 1776 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
56441	18.9766	1776

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelial cell of pancreas	CL:0000083	99.38	gold quality
pancreatic ductal cell	CL:0002079	98.23	gold quality
upper arm skin	UBERON:0004263	97.45	gold quality
germinal epithelium of ovary	UBERON:0001304	97.44	gold quality
amniotic fluid	UBERON:0000173	97.40	gold quality
palpebral conjunctiva	UBERON:0001812	97.07	gold quality
endothelial cell	CL:0000115	96.88	gold quality
layer of synovial tissue	UBERON:0007616	96.85	gold quality
saphenous vein	UBERON:0007318	96.79	gold quality
trabecular bone tissue	UBERON:0002483	96.49	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.43	gold quality
seminal vesicle	UBERON:0000998	96.41	gold quality
visceral pleura	UBERON:0002401	96.34	gold quality
tibia	UBERON:0000979	96.33	gold quality
superficial temporal artery	UBERON:0001614	96.28	gold quality
kidney epithelium	UBERON:0004819	96.23	gold quality
epithelium of nasopharynx	UBERON:0001951	96.17	gold quality
synovial joint	UBERON:0002217	96.13	gold quality
nasal cavity epithelium	UBERON:0005384	96.12	gold quality
medial globus pallidus	UBERON:0002477	95.74	gold quality
globus pallidus	UBERON:0001875	95.70	gold quality
heart right ventricle	UBERON:0002080	95.69	gold quality
lower lobe of lung	UBERON:0008949	95.64	gold quality
subthalamic nucleus	UBERON:0001906	95.61	gold quality
parietal pleura	UBERON:0002400	95.55	gold quality
cauda epididymis	UBERON:0004360	95.55	gold quality
inferior vagus X ganglion	UBERON:0005363	95.48	gold quality
renal medulla	UBERON:0000362	95.47	gold quality
left ventricle myocardium	UBERON:0006566	95.46	gold quality
gingival epithelium	UBERON:0001949	95.44	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6075	yes	135.72
E-ANND-3	yes	3.93

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

170 targeting SNX18, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-3910	99.95	71.13	2227

Literature-anchored findings (GeneRIF, showing 6)

• The results indicate that SNX9-family members make up discrete membrane-scission units together with dynamin, and suggest that SNX18 mediates budding of carriers for AP-1-positive endosomal trafficking. (PMID:18411244)
• functions in multiple pathways of endocytosis at the plasma membrane (PMID:20427313)
• FIP5-SNX18 complex plays a pivotal role in the polarized transport of apical proteins during apical lumen initiation in epithelial cells. (PMID:21969467)
• The sorting nexin 9 (SNX9) subfamily members - SNX9, SNX18 and SNX33 - are required for progression and completion of mitosis. (PMID:22718350)
• SNX18 promotes autophagosome formation by virtue of its ability to remodel membranes and provide membrane to forming autophagosomes. (PMID:23878278)
• We propose a model where upon autophagy induction, SNX18 recruits Dynamin-2 to induce budding of ATG9A and ATG16L1 containing membranes from recycling endosomes that traffic to sites of autophagosome formation. (PMID:29437695)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	snx18b	ENSDARG00000044246
danio_rerio	snx18a	ENSDARG00000067713
mus_musculus	Snx18	ENSMUSG00000042364
rattus_norvegicus	Snx18	ENSRNOG00000010971

Paralogs (15): SNX11 (ENSG00000002919), SNX1 (ENSG00000028528), SNX10 (ENSG00000086300), SNX5 (ENSG00000089006), SNX8 (ENSG00000106266), SNX3 (ENSG00000112335), SNX4 (ENSG00000114520), SNX6 (ENSG00000129515), SNX9 (ENSG00000130340), SNX12 (ENSG00000147164), SNX30 (ENSG00000148158), SNX7 (ENSG00000162627), SNX32 (ENSG00000172803), SNX33 (ENSG00000173548), SNX2 (ENSG00000205302)

Protein

Protein identifiers

Sorting nexin-18 — Q96RF0 (reviewed: Q96RF0)

Alternative names: SH3 and PX domain-containing protein 3B

All UniProt accessions (1): Q96RF0

UniProt curated annotations — full annotation on UniProt →

Function. Involved in endocytosis and intracellular vesicle trafficking, both during interphase and at the end of mitosis. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Plays a role in endocytosis via clathrin-coated pits, but also clathrin-independent, actin-dependent fluid-phase endocytosis. Plays a role in macropinocytosis. Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate and promotes membrane tubulation. Stimulates the GTPase activity of DNM2. Promotes DNM2 location at the plasma membrane. Together with DNM2, involved in autophagosome assembly by regulating trafficking from recycling endosomes of phospholipid scramblase ATG9A.

Subunit / interactions. Heterodimer with SNX9. Interacts with ITCH. Interacts with dynamin-2 (DNM2), SYNJ1 and WASL. Interacts with the AP-1 complex. Interacts with FCHSD1 (via the F-BAR domain).

Subcellular location. Endomembrane system. Endosome membrane. Recycling endosome membrane. Cell membrane. Cytoplasmic vesicle membrane.

Domain organisation. The PX domain mediates interaction with membranes enriched in phosphatidylinositol 4,5-bisphosphate.

Similarity. Belongs to the sorting nexin family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96RF0-1	1	yes
Q96RF0-2	2
Q96RF0-3	3

RefSeq proteins (3): NP_001096045, NP_001138899, NP_443102 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR001683	PX_dom	Domain
IPR014536	Snx9_fam	Family
IPR019497	Sorting_nexin_WASP-bd-dom	Domain
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR035557	SNX18_SH3	Domain
IPR035703	SNX18_PX	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036871	PX_dom_sf	Homologous_superfamily

Pfam: PF00787, PF10456, PF14604

UniProt features (17 total): domain 3, binding site 3, compositionally biased region 3, splice variant 2, sequence variant 2, region of interest 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96RF0-F1	68.28	0.39

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 (3): 314; 352; 312

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8856828	Clathrin-mediated endocytosis
R-HSA-199991	Membrane Trafficking
R-HSA-5653656	Vesicle-mediated transport

MSigDB gene sets: 311 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_MITOTIC_CYTOKINESIS, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_VACUOLE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_VACUOLE_ORGANIZATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_VACUOLE_ORGANIZATION, REACTOME_MEMBRANE_TRAFFICKING, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CYTOKINETIC_PROCESS, SP1_Q2_01

GO Biological Process (11): mitotic cytokinesis (GO:0000281), endocytosis (GO:0006897), protein transport (GO:0015031), endosomal transport (GO:0016197), cleavage furrow formation (GO:0036089), positive regulation of GTPase activity (GO:0043547), plasma membrane tubulation (GO:0097320), positive regulation of autophagosome assembly (GO:2000786), mitotic cell cycle (GO:0000278), positive regulation of catabolic process (GO:0009896), cell division (GO:0051301)

GO Molecular Function (4): phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), phosphatidylinositol binding (GO:0035091), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (11): plasma membrane (GO:0005886), cytoplasmic side of plasma membrane (GO:0009898), cytoplasmic vesicle (GO:0031410), recycling endosome membrane (GO:0055038), extracellular exosome (GO:0070062), endosome (GO:0005768), endosome membrane (GO:0010008), endomembrane system (GO:0012505), membrane (GO:0016020), clathrin-coated vesicle (GO:0030136), cytoplasmic vesicle membrane (GO:0030659)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Membrane Trafficking	1
Vesicle-mediated transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoskeleton-dependent cytokinesis	2
vesicle-mediated transport	2
binding	2
plasma membrane	2
cytoplasmic vesicle	2
cellular anatomical structure	2
mitotic cell cycle	1
mitotic cell cycle process	1
vesicle budding from membrane	1
membrane invagination	1
import into cell	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
intracellular transport	1
cytokinetic process	1
plasma membrane invagination	1
GTPase activity	1
regulation of GTPase activity	1
positive regulation of hydrolase activity	1
plasma membrane organization	1
autophagosome assembly	1
positive regulation of macroautophagy	1
positive regulation of vacuole organization	1
positive regulation of organelle assembly	1
regulation of autophagosome assembly	1
cell cycle	1
mitotic nuclear division	1
catabolic process	1
positive regulation of metabolic process	1
regulation of catabolic process	1
cellular process	1
phosphatidylinositol phosphate binding	1
phosphatidylinositol bisphosphate binding	1
anion binding	1
membrane	1
cell periphery	1
cytoplasmic side of membrane	1
cytoplasm	1
intracellular vesicle	1

Protein interactions and networks

STRING

880 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SNX18	DNM2	P50570	881
SNX18	ATG16L1	Q676U5	668
SNX18	SNX6	Q9UNH7	602
SNX18	SNX2	P82862	575
SNX18	SNX32	Q86XE0	571
SNX18	SNX5	Q9Y5X3	571
SNX18	GABARAP	O95166	558
SNX18	TBC1D14	Q9P2M4	527
SNX18	SNX15	Q9NRS6	520
SNX18	ADAM9	Q13443	508
SNX18	PACS1	Q6VY07	506
SNX18	AMPH	P49418	502
SNX18	FCHSD1	Q86WN1	493
SNX18	VPS29	Q9UBQ0	481
SNX18	RAB11A	P24410	472

IntAct

129 interactions, top by confidence:

A	B	Type	Score
ANKRD28	PPP6C	psi-mi:“MI:0914”(association)	0.870
GRAP2	STAMBP	psi-mi:“MI:0914”(association)	0.810
DNM2	DNM1	psi-mi:“MI:0914”(association)	0.740
GRB2	WIPF3	psi-mi:“MI:0914”(association)	0.730
SDC2	PDPK1	psi-mi:“MI:0914”(association)	0.640
SKP1	MYCBP2	psi-mi:“MI:0914”(association)	0.640
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
ADAM9	SNX18	psi-mi:“MI:0407”(direct interaction)	0.560
CYSRT1	SNX18	psi-mi:“MI:0915”(physical association)	0.560
SNX18	MDFI	psi-mi:“MI:0915”(physical association)	0.560
KRTAP1-1	SNX18	psi-mi:“MI:0915”(physical association)	0.560
CPSF7	SNX18	psi-mi:“MI:0915”(physical association)	0.560
KHDRBS3	SNX18	psi-mi:“MI:0915”(physical association)	0.560
KRTAP6-3	SNX18	psi-mi:“MI:0915”(physical association)	0.560
SNX18	DPPA4	psi-mi:“MI:0915”(physical association)	0.560
PTPN21	SNX18	psi-mi:“MI:0915”(physical association)	0.560
SNX18	ABI2	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	SNX18	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	SNX18	psi-mi:“MI:0915”(physical association)	0.560
HSPB2	SNX18	psi-mi:“MI:0915”(physical association)	0.560
MSS51	SNX18	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	SNX18	psi-mi:“MI:0915”(physical association)	0.560
ADAM10	SNX18	psi-mi:“MI:0407”(direct interaction)	0.540
ADAM10	SNX18	psi-mi:“MI:0915”(physical association)	0.540
SNX18	RAB11FIP5	psi-mi:“MI:0915”(physical association)	0.540
RAB11FIP5	SNX18	psi-mi:“MI:0915”(physical association)	0.540
SNX18	RAB11FIP5	psi-mi:“MI:0407”(direct interaction)	0.540
GRB2	ARHGEF35	psi-mi:“MI:0914”(association)	0.530

BioGRID (100): SNX18 (Affinity Capture-MS), SNX18 (Affinity Capture-MS), SNX18 (Affinity Capture-MS), SNX18 (Affinity Capture-MS), SNX18 (Affinity Capture-MS), SNX18 (Affinity Capture-MS), DNM2 (Affinity Capture-Western), SNX18 (Affinity Capture-MS), SNX18 (Affinity Capture-MS), SNX18 (Affinity Capture-MS), SNX18 (Affinity Capture-MS), SNX18 (Affinity Capture-MS), SNX18 (Affinity Capture-MS), SNX18 (Affinity Capture-MS), SNX18 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B7YDZ4, A5PK26, B0R0W9, B1H267, E1BFE9, O15085, O35179, O35964, O43150, O94868, O97902, Q28GP7, Q2KHV6, Q2KJA1, Q3TBD2, Q3USJ8, Q3ZBM5, Q4VAA7, Q5RB40, Q5RC07, Q5U464, Q5W7F2, Q5ZK62, Q62419, Q62420, Q6DE55, Q6NRL2, Q6UXY1, Q75C43, Q7SGV1, Q7SIG6, Q80Y61, Q80ZJ7, Q86XE0, Q8AXV0, Q8AXV1, Q8CFD4, Q8I4E2, Q8K2H4, Q8WV41

Diamond homologs: A0A1B7YDZ4, I1RXT2, O14243, O60107, O60493, O70492, O70493, P0CR58, P0CR59, P0CR60, P0CR61, P0CR62, P0CR63, P40959, P47057, Q08826, Q08DD7, Q1RMH8, Q2U4K2, Q2UB56, Q3MPQ4, Q4I1H6, Q4P1V3, Q4PHC3, Q4WQI6, Q4WWS3, Q4WZF1, Q522W5, Q5A748, Q5B797, Q5H7C3, Q5R5V1, Q5U211, Q6C2S9, Q6CTQ0, Q6CUC4, Q6FNH2, Q6FPT9, Q6FT03, Q75C43

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 128 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
DNA Replication	5	13.2×	7e-03
Constitutive Signaling by NOTCH1 PEST Domain Mutants	5	10.9×	7e-03
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	5	10.9×	7e-03
p75 NTR receptor-mediated signalling	5	10.4×	7e-03
Degradation of the extracellular matrix	6	7.8×	7e-03
Extracellular matrix organization	10	7.0×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
epidermal growth factor receptor signaling pathway	6	13.0×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	103
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

266 predictions. Top by Δscore:

Variant	Effect	Δscore
5:54538755:G:GT	donor_gain	1.0000
5:54543173:CTACA:C	acceptor_loss	1.0000
5:54543174:TACA:T	acceptor_loss	1.0000
5:54543177:AGG:A	acceptor_loss	1.0000
5:54543178:GGA:G	acceptor_gain	1.0000
5:54519569:GAAAG:G	donor_gain	0.9900
5:54519570:AAAGG:A	donor_loss	0.9900
5:54519571:AAG:A	donor_loss	0.9900
5:54519572:AGG:A	donor_loss	0.9900
5:54519573:GGT:G	donor_loss	0.9900
5:54519575:T:G	donor_loss	0.9900
5:54538880:G:GT	acceptor_gain	0.9900
5:54543177:A:AG	acceptor_gain	0.9900
5:54543178:G:GG	acceptor_gain	0.9900
5:54533169:TTCAA:T	acceptor_gain	0.9700
5:54543177:AG:A	acceptor_gain	0.9700
5:54543178:GG:G	acceptor_gain	0.9700
5:54538756:A:T	donor_gain	0.9600
5:54543175:A:AG	acceptor_gain	0.9300
5:54538775:GTTT:G	donor_gain	0.9200
5:54538776:TTTT:T	donor_gain	0.9200
5:54543176:CAGG:C	acceptor_gain	0.9100
5:54543177:AGGA:A	acceptor_gain	0.9100
5:54543178:GGAG:G	acceptor_gain	0.9100
5:54538744:GATA:G	donor_gain	0.9000
5:54543172:A:G	acceptor_gain	0.8900
5:54543171:A:AG	acceptor_gain	0.8800
5:54534182:T:G	donor_gain	0.8700
5:54531764:C:G	donor_gain	0.8600
5:54538778:T:TG	donor_gain	0.8600

AlphaMissense

4116 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:54517983:T:C	F11L	1.000
5:54517984:T:C	F11S	1.000
5:54517985:C:A	F11L	1.000
5:54517985:C:G	F11L	1.000
5:54518064:T:A	W38R	1.000
5:54518064:T:C	W38R	1.000
5:54518066:G:C	W38C	1.000
5:54518066:G:T	W38C	1.000
5:54518073:G:A	G41R	1.000
5:54518073:G:C	G41R	1.000
5:54518073:G:T	G41W	1.000
5:54518074:G:A	G41E	1.000
5:54518097:G:C	G49R	1.000
5:54518104:T:C	F51S	1.000
5:54518106:C:T	P52S	1.000
5:54518107:C:A	P52Q	1.000
5:54518643:C:A	R231S	1.000
5:54518646:T:C	F232L	1.000
5:54518647:T:C	F232S	1.000
5:54518647:T:G	F232C	1.000
5:54518648:C:A	F232L	1.000
5:54518648:C:G	F232L	1.000
5:54518659:T:A	V236D	1.000
5:54518757:T:A	W269R	1.000
5:54518757:T:C	W269R	1.000
5:54518807:G:C	K285N	1.000
5:54518807:G:T	K285N	1.000
5:54518814:A:C	K288Q	1.000
5:54518814:A:G	K288E	1.000
5:54518815:A:T	K288M	1.000

dbSNP variants (sampled 300 via entrez): RS1000001095 (5:54607255 G>A,C,T), RS1000012986 (5:54604224 A>G), RS1000037903 (5:54627853 G>A,C), RS1000062664 (5:54602489 C>T), RS1000093310 (5:54554606 A>T), RS1000093874 (5:54636755 T>A), RS1000109432 (5:54594755 G>A), RS1000127113 (5:54581928 C>A), RS1000146154 (5:54636456 A>C,G,T), RS1000147728 (5:54538642 C>A,G), RS1000168247 (5:54570126 T>C), RS1000209522 (5:54632961 G>C), RS1000217082 (5:54593489 C>G), RS1000261738 (5:54633145 G>A), RS1000291904 (5:54624887 G>A,C)

Disease associations

OMIM: gene MIM:621000 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001491_9	Immune response to smallpox vaccine (IL-6)	9.000000e-07
GCST009391_247	Metabolite levels	9.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004645	response to vaccine
EFO:0010494	guanosine diphosphate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation, affects cotreatment	4
trichostatin A	affects cotreatment, increases expression	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
FR900359	decreases phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
alpha-pinene	increases expression, increases abundance, affects cotreatment	1
bisphenol A	decreases expression	1
decabromobiphenyl ether	decreases expression	1
sodium arsenite	decreases expression	1
tetrabromobisphenol A	decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol AF	increases expression	1
Irinotecan	decreases expression	1
Resveratrol	increases expression	1
Acetaminophen	decreases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Air Pollutants	increases abundance, increases expression, affects cotreatment	1
Amiodarone	increases expression	1
Benzo(a)pyrene	affects methylation	1
Calcitriol	increases expression	1
Ketoconazole	increases expression	1
Lipopolysaccharides	affects response to substance, increases expression, decreases expression	1
Methotrexate	increases expression	1

Clinical trials (associated diseases)

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