GALNT18

Summary

GALNT18 (polypeptide N-acetylgalactosaminyltransferase 18, HGNC:30488) is a protein-coding gene on chromosome 11p15.4, encoding Polypeptide N-acetylgalactosaminyltransferase 18 (Q6P9A2). Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine (GalNAc) residue from UDP-GalNAc to a serine or threonine residue on the protein receptor.

Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus.

Source: NCBI Gene 374378 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 96 total
• MANE Select transcript: NM_198516

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30488
Approved symbol	GALNT18
Name	polypeptide N-acetylgalactosaminyltransferase 18
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	MGC71806, GALNT15, GalNAc-T18
Ensembl gene	ENSG00000110328
Ensembl biotype	protein_coding
OMIM	615136
Entrez	374378

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 15 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000227756, ENST00000526064, ENST00000878651, ENST00000878652, ENST00000878653, ENST00000878654, ENST00000878655, ENST00000878656, ENST00000958463, ENST00000958464, ENST00000958465, ENST00000958466, ENST00000958467, ENST00000958468, ENST00000958469, ENST00000958470

RefSeq mRNA: 2 — MANE Select: NM_198516 NM_001363464, NM_198516

CCDS: CCDS7807

Canonical transcript exons

ENST00000227756 — 11 exons

Exon	Start	End
ENSE00001004301	11332694	11332831
ENSE00001194975	11293029	11293193
ENSE00001194978	11327086	11327181
ENSE00001194988	11340819	11341004
ENSE00001240296	11372515	11372629
ENSE00001240304	11377182	11377379
ENSE00001240310	11379081	11379264
ENSE00001240316	11432621	11432787
ENSE00001240322	11448744	11448936
ENSE00001240331	11270877	11271290
ENSE00001322948	11621359	11622005

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 95.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.2343 / max 168.3903, expressed in 1008 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118680	6.0011	991
118681	0.2332	110

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lung	UBERON:0002167	95.03	gold quality
upper lobe of left lung	UBERON:0008952	93.65	gold quality
upper lobe of lung	UBERON:0008948	93.33	gold quality
left lobe of thyroid gland	UBERON:0001120	92.61	gold quality
right lobe of thyroid gland	UBERON:0001119	92.15	gold quality
thyroid gland	UBERON:0002046	91.86	gold quality
renal medulla	UBERON:0000362	90.01	gold quality
lung	UBERON:0002048	89.87	gold quality
apex of heart	UBERON:0002098	89.79	gold quality
decidua	UBERON:0002450	89.24	gold quality
saphenous vein	UBERON:0007318	88.56	gold quality
lower lobe of lung	UBERON:0008949	88.51	gold quality
ascending aorta	UBERON:0001496	87.88	gold quality
thoracic aorta	UBERON:0001515	87.60	gold quality
pericardium	UBERON:0002407	87.45	gold quality
muscle layer of sigmoid colon	UBERON:0035805	87.37	gold quality
aorta	UBERON:0000947	87.18	gold quality
cartilage tissue	UBERON:0002418	87.16	gold quality
right coronary artery	UBERON:0001625	87.04	gold quality
tibial artery	UBERON:0007610	87.00	gold quality
popliteal artery	UBERON:0002250	86.95	gold quality
lower esophagus muscularis layer	UBERON:0035833	86.72	gold quality
lower esophagus	UBERON:0013473	86.65	gold quality
metanephros cortex	UBERON:0010533	86.09	gold quality
right atrium auricular region	UBERON:0006631	85.80	gold quality
heart left ventricle	UBERON:0002084	85.55	gold quality
descending thoracic aorta	UBERON:0002345	85.47	gold quality
body of uterus	UBERON:0009853	85.41	gold quality
middle temporal gyrus	UBERON:0002771	85.12	gold quality
oocyte	CL:0000023	85.11	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	21.84
E-ANND-3	yes	10.45
E-MTAB-6678	no	2.44

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR1I2

miRNA regulators (miRDB)

30 targeting GALNT18, 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-340-5P	100.00	72.50	4437
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-548V	99.29	69.47	1157
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-4742-5P	98.89	68.41	1542
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-6796-3P	98.68	65.49	689
HSA-MIR-5585-3P	98.25	67.41	941
HSA-MIR-144-5P	97.66	69.90	531

Literature-anchored findings (GeneRIF, showing 1)

• Polypeptide N-acetylgalactosaminyltransferase 18 retains in endoplasmic reticulum depending on its luminal regions interacting with ER resident UGGT1, PLOD3 and LPCAT1. (PMID:33909026)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	galnt18b	ENSDARG00000059438
danio_rerio	galnt18a	ENSDARG00000100889
mus_musculus	Galnt18	ENSMUSG00000038296
rattus_norvegicus	Galnt18	ENSRNOG00000017021
drosophila_melanogaster	Pgant5	FBGN0031681
drosophila_melanogaster	Pgant9	FBGN0050463
caenorhabditis_elegans		WBGENE00001628
caenorhabditis_elegans		WBGENE00001630

Paralogs (19): GALNT16 (ENSG00000100626), GALNTL5 (ENSG00000106648), GALNT7 (ENSG00000109586), GALNT3 (ENSG00000115339), GALNT12 (ENSG00000119514), GALNT8 (ENSG00000130035), GALNT15 (ENSG00000131386), GALNT5 (ENSG00000136542), GALNT6 (ENSG00000139629), GALNT1 (ENSG00000141429), GALNT2 (ENSG00000143641), GALNT13 (ENSG00000144278), GALNT14 (ENSG00000158089), GALNT10 (ENSG00000164574), GALNTL6 (ENSG00000174473), GALNT11 (ENSG00000178234), GALNT9 (ENSG00000182870), GALNT17 (ENSG00000185274), GALNT4 (ENSG00000257594)

Protein

Protein identifiers

Polypeptide N-acetylgalactosaminyltransferase 18 — Q6P9A2 (reviewed: Q6P9A2)

Alternative names: Polypeptide GalNAc transferase 18, Polypeptide GalNAc transferase-like protein 4, Polypeptide N-acetylgalactosaminyltransferase-like protein 4, Protein-UDP acetylgalactosaminyltransferase-like protein 4, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 4

All UniProt accessions (2): Q6P9A2, Q58A54

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine (GalNAc) residue from UDP-GalNAc to a serine or threonine residue on the protein receptor.

Subcellular location. Golgi apparatus membrane.

Domain organisation. There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding. The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6P9A2-1	1	yes
Q6P9A2-2	2

RefSeq proteins (2): NP_001350393, NP_940918* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000772	Ricin_B_lectin	Domain
IPR001173	Glyco_trans_2-like	Domain
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR035992	Ricin_B-like_lectins	Homologous_superfamily
IPR045885	GalNAc-T	Domain

Pfam: PF00535, PF00652

Enzyme classification (BRENDA):

• EC 2.4.1.41 — polypeptide N-acetylgalactosaminyltransferase (BRENDA: 21 organisms, 537 substrates, 86 inhibitors, 206 Km, 52 kcat entries)

Substrate kinetics (BRENDA)

71 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
UDP-GALNAC	0.0017–16	32
UDP-N-ACETYL-D-GALACTOSAMINE	0.008–0.081	11
PTTDSTTPAPTTK	0.042–1.02	7
GTTPSPVPTTSTTSAP	0.0259–0.344	5
MUC5AC-13	0.018–0.77	5
MUC5AC-3	0.033–0.107	5
STPSTPSTPSTPSTP	0.2–0.65	5
CPPTPSATTPAPPSSSAPPETTAA	0.01–0.48	4
DSTTPAPTTK	0.07–2.19	4
GTTPSPVPTTST[GALNAC]TSAP	0.115–0.46	4
GT[GALNAC]TPSPVPTTSTTSAP	0.035–0.332	4
UDP-GAL	0.027–0.041	4
GVVPTVVPG	1.74–17.6	3
IGA HINGE	0.01–0.02	3
IGA HINGE-4GALNAC	0.12–0.81	3

Catalyzed reactions (Rhea), 2 shown:

• L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = a 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + UDP + H(+) (RHEA:23956)
• L-threonyl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = a 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + UDP + H(+) (RHEA:52424)

UniProt features (25 total): binding site 6, disulfide bond 5, glycosylation site 3, topological domain 2, splice variant 2, sequence conflict 2, region of interest 2, chain 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P9A2-F1	89.10	0.78

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 (6): 382; 385; 390; 194; 251; 253

Disulfide bonds (5): 144–377, 368–447, 482–498, 530–543, 571–591

Glycosylation sites (3): 146, 195, 320

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-913709	O-linked glycosylation of mucins

MSigDB gene sets: 195 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOZGIT_ESR1_TARGETS_DN, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, FOSTER_TOLERANT_MACROPHAGE_DN, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, WAGNER_APO2_SENSITIVITY, RIGGI_EWING_SARCOMA_PROGENITOR_DN, TGACATY_UNKNOWN, MODULE_48, MODULE_95, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION_VIA_N_ACETYL_GALACTOSAMINE, MILI_PSEUDOPODIA_CHEMOTAXIS_DN, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS

GO Biological Process (3): protein O-linked glycosylation (GO:0006493), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (5): polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653), carbohydrate binding (GO:0030246), metal ion binding (GO:0046872), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
O-linked glycosylation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycoprotein biosynthetic process	1
protein O-linked glycosylation	1
acetylgalactosaminyltransferase activity	1
catalytic activity, acting on a protein	1
binding	1
cation binding	1
catalytic activity	1
transferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

772 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GALNT18	TRIM51G	A0A3B3IT33	479
GALNT18	AZGP1	P25311	468
GALNT18	IP6K3	Q96PC2	456
GALNT18	MRPL54	Q6P161	443
GALNT18	TNRC18	O15417	442
GALNT18	CFAP54	Q96N23	439
GALNT18	SEZ6L	Q9BYH1	430
GALNT18	OSBPL6	Q9BZF3	430
GALNT18	BGN	P13247	424
GALNT18	NCAPH2	Q6IBW4	424
GALNT18	ECM1	Q16610	422
GALNT18	TRIML1	Q8N9V2	418
GALNT18	DNPEP	Q9ULA0	416
GALNT18	PLOD3	O60568	414
GALNT18	C1GALT1	Q9NS00	400

IntAct

79 interactions, top by confidence:

A	B	Type	Score
CRIPTO	AIP	psi-mi:“MI:0914”(association)	0.640
OS9	AGRN	psi-mi:“MI:0914”(association)	0.530
PSG8	PEX7	psi-mi:“MI:0914”(association)	0.530
PLA2G10	CHEK1	psi-mi:“MI:0914”(association)	0.530
PLAUR	XRCC3	psi-mi:“MI:0914”(association)	0.530
AVP	ATE1	psi-mi:“MI:0914”(association)	0.530
ODAPH	TCAF2	psi-mi:“MI:0914”(association)	0.530
CMA1	MANBA	psi-mi:“MI:0914”(association)	0.530
C1orf54	EXTL3	psi-mi:“MI:0914”(association)	0.530
GALNT18	TPM1	psi-mi:“MI:0915”(physical association)	0.400
AVP	B4GALT5	psi-mi:“MI:0914”(association)	0.350
PTPRK	MANBA	psi-mi:“MI:0914”(association)	0.350
TAZ	MANBA	psi-mi:“MI:0914”(association)	0.350
SLAMF1	RTCA	psi-mi:“MI:0914”(association)	0.350
LYZL1	MANBA	psi-mi:“MI:0914”(association)	0.350
ST8SIA4	NRP1	psi-mi:“MI:0914”(association)	0.350
TMEM25	FUZ	psi-mi:“MI:0914”(association)	0.350
LYZL2	MANBA	psi-mi:“MI:0914”(association)	0.350
PTCH1	PLXNB2	psi-mi:“MI:0914”(association)	0.350
IDS	COCH	psi-mi:“MI:0914”(association)	0.350
OS9	GXYLT2	psi-mi:“MI:0914”(association)	0.350
ST8SIA4	FAM234B	psi-mi:“MI:0914”(association)	0.350
CCL3	KRBA1	psi-mi:“MI:0914”(association)	0.350
PSCA	METTL15	psi-mi:“MI:0914”(association)	0.350
RLN1	RTL8C	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
CEACAM8	PRRT4	psi-mi:“MI:0914”(association)	0.350

BioGRID (77): GALNT18 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS)

ESM2 similar proteins: A0A8C2LVE3, A2BGL3, F4HXW9, O08889, O17645, O43909, O43916, O93336, O93403, O95461, P25722, P69478, P79948, Q0IIY2, Q2TBF2, Q5NDE4, Q5NDE5, Q5NDE6, Q5NDE7, Q5NDE8, Q5NVB3, Q5R621, Q5RJQ0, Q5XHM7, Q66PG1, Q66PG2, Q66PG3, Q6DBY9, Q6NVP8, Q6P9A2, Q6PA90, Q76EC5, Q76KB1, Q7LFX5, Q7LGA3, Q7LGC8, Q7T3S3, Q800H9, Q8BUB6, Q8CHI9

Diamond homologs: A8Y236, H0ZAB5, O08832, O08912, O45293, O45947, O61394, O61397, O88422, P34678, P70419, Q07537, Q10471, Q10472, Q10473, Q14435, Q29121, Q49A17, Q5EA41, Q5RFJ6, Q6DJR8, Q6IS24, Q6P6V1, Q6P9A2, Q6P9S7, Q6PB93, Q6UE39, Q6WV16, Q6WV17, Q6WV19, Q6WV20, Q7K755, Q7TT15, Q7Z4T8, Q7Z7M9, Q80VA0, Q86SF2, Q86SR1, Q8BGT9, Q8BVG5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	86
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3951 predictions. Top by Δscore:

Variant	Effect	Δscore
11:11293023:TGTTA:T	donor_loss	1.0000
11:11293024:GTTAC:G	donor_loss	1.0000
11:11293025:TTA:T	donor_loss	1.0000
11:11293026:TAC:T	donor_loss	1.0000
11:11293027:A:C	donor_loss	1.0000
11:11293028:CCTG:C	donor_loss	1.0000
11:11293190:CGTT:C	acceptor_gain	1.0000
11:11327210:C:CT	acceptor_gain	1.0000
11:11327211:A:T	acceptor_gain	1.0000
11:11332688:CCTTA:C	donor_loss	1.0000
11:11332689:CTTAC:C	donor_loss	1.0000
11:11332690:TTACC:T	donor_loss	1.0000
11:11332692:A:T	donor_loss	1.0000
11:11332693:C:A	donor_loss	1.0000
11:11332693:CCA:C	donor_gain	1.0000
11:11332693:CCACT:C	donor_gain	1.0000
11:11332723:T:TA	donor_gain	1.0000
11:11340820:T:TA	donor_gain	1.0000
11:11341422:T:TA	donor_gain	1.0000
11:11370485:A:AC	donor_gain	1.0000
11:11370486:G:C	donor_gain	1.0000
11:11372513:AC:A	donor_gain	1.0000
11:11372514:CC:C	donor_gain	1.0000
11:11379074:CACTT:C	donor_loss	1.0000
11:11379075:ACTTA:A	donor_loss	1.0000
11:11379076:CTTA:C	donor_loss	1.0000
11:11379077:TTA:T	donor_loss	1.0000
11:11379078:TA:T	donor_loss	1.0000
11:11379079:A:AC	donor_gain	1.0000
11:11379079:ACC:A	donor_loss	1.0000

AlphaMissense

4021 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:11340953:G:C	H382D	1.000
11:11372533:A:C	N358K	1.000
11:11372533:A:T	N358K	1.000
11:11377253:C:A	W302C	1.000
11:11377253:C:G	W302C	1.000
11:11377255:A:G	W302R	1.000
11:11377255:A:T	W302R	1.000
11:11379108:T:A	D251V	1.000
11:11271180:C:A	W596C	0.999
11:11271180:C:G	W596C	0.999
11:11271182:A:G	W596R	0.999
11:11271182:A:T	W596R	0.999
11:11293043:A:G	W555R	0.999
11:11293043:A:T	W555R	0.999
11:11293117:C:G	C530S	0.999
11:11293118:A:G	C530R	0.999
11:11293118:A:T	C530S	0.999
11:11327104:G:C	C498W	0.999
11:11327105:C:T	C498Y	0.999
11:11327152:A:C	C482W	0.999
11:11327153:C:G	C482S	0.999
11:11327154:A:G	C482R	0.999
11:11327154:A:T	C482S	0.999
11:11332770:C:G	C447S	0.999
11:11332771:A:T	C447S	0.999
11:11340872:A:G	W409R	0.999
11:11340872:A:T	W409R	0.999
11:11340880:G:T	A406D	0.999
11:11340885:C:A	R404S	0.999
11:11340885:C:G	R404S	0.999

dbSNP variants (sampled 300 via entrez): RS1000006104 (11:11457176 C>A,G,T), RS1000006998 (11:11454939 A>G), RS1000019140 (11:11378304 C>A), RS1000045723 (11:11575127 A>C), RS1000049232 (11:11382498 T>G), RS1000070194 (11:11350694 G>A,T), RS1000070326 (11:11486048 C>T), RS1000071027 (11:11567633 T>C), RS1000072179 (11:11417383 G>A,T), RS1000084410 (11:11561059 A>G), RS1000088481 (11:11272534 C>T), RS1000092163 (11:11524420 A>C), RS1000092994 (11:11369606 A>G), RS1000094217 (11:11485844 G>A), RS1000110354 (11:11449689 G>C)

Disease associations

OMIM: gene MIM:615136 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST001369_4	Type 2 diabetes	2.000000e-06
GCST002867_1	Psychotic symptoms in prion disease	2.000000e-06
GCST003064_12	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	2.000000e-06
GCST003065_20	Exploratory eye movement dysfunction in schizophrenia (responsive search score)	2.000000e-06
GCST003820_3	Knee osteoarthritis	6.000000e-06
GCST006434_63	Systolic blood pressure x alcohol consumption interaction (2df test)	1.000000e-08
GCST006586_31	Urinary albumin excretion	4.000000e-08
GCST009557_2	Rate of ventricular enlargement	5.000000e-06
GCST010256_2	Diastolic blood pressure x quantitative lifestyle risk score interaction (2df test)	4.000000e-07
GCST010258_1	Diastolic blood pressure	1.000000e-300
GCST010979_7	Kawasaki disease	3.000000e-06
GCST011176_14	Stroke	4.000000e-07
GCST012490_17	Femur bone mineral density x serum urate levels interaction	4.000000e-13
GCST012490_355	Femur bone mineral density x serum urate levels interaction	6.000000e-13

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005940	psychotic symptoms
EFO:0007700	exploratory eye movement measurement
EFO:0004329	alcohol drinking
EFO:0006335	systolic blood pressure
EFO:0004285	albuminuria
EFO:0010570	ventricular enlargement measurement
EFO:0006336	diastolic blood pressure
EFO:0010724	lifestyle measurement
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

2 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs4910008	Efficacy	3	tocilizumab	Rheumatoid arthritis
rs7937567	Efficacy	3	cisplatin	Urinary Bladder Neoplasms

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs4910008	GALNT18	3	1.75	1	tocilizumab
rs7937567	CSNK2A3, GALNT18	3	2.25	1	cisplatin

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
sodium arsenite	affects methylation, decreases expression, affects cotreatment, increases abundance, increases expression	5
Panobinostat	affects cotreatment, increases expression	2
Arsenic	affects cotreatment, decreases expression, increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, increases expression	2
Calcitriol	increases expression, affects cotreatment, decreases expression	2
Formaldehyde	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cyclosporine	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases methylation	1
trichostatin A	increases expression	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	increases expression	1
butyraldehyde	increases expression	1
zinc chromate	decreases expression, increases abundance	1
potassium chromate(VI)	increases expression	1
pentanal	increases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
bisphenol S	affects methylation	1
jinfukang	affects cotreatment, increases expression	1
NSC 689534	affects binding, decreases expression	1
Sunitinib	increases expression	1
Zoledronic Acid	increases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	increases expression	1

Clinical trials (associated diseases)

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