TMEM258

Summary

TMEM258 (transmembrane protein 258, HGNC:1164) is a protein-coding gene on chromosome 11q12.2, encoding Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit TMEM258 (P61165). Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypep…. It is a common-essential gene (DepMap: required in 95.5% of cancer cell lines).

Predicted to enable oligosaccharyltransferase complex binding activity. Involved in protein N-linked glycosylation. Located in endoplasmic reticulum and membrane. Part of oligosaccharyltransferase complex A and oligosaccharyltransferase complex B.

Source: NCBI Gene 746 — RefSeq curated summary.

At a glance

• GWAS associations: 127
• Clinical variants (ClinVar): 12 total
• Cancer dependency (DepMap): dependent in 95.5% of screened cell lines (common-essential)
• MANE Select transcript: NM_014206

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1164
Approved symbol	TMEM258
Name	transmembrane protein 258
Location	11q12.2
Locus type	gene with protein product
Status	Approved
Aliases	Kuduk, Kud
Ensembl gene	ENSG00000134825
Ensembl biotype	protein_coding
OMIM	617615
Entrez	746

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 5 protein_coding, 4 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000257262, ENST00000535042, ENST00000535297, ENST00000537328, ENST00000540434, ENST00000541893, ENST00000543510, ENST00000545210, ENST00000857009, ENST00000940408, ENST00000947562

RefSeq mRNA: 1 — MANE Select: NM_014206 NM_014206

CCDS: CCDS8009

Canonical transcript exons

ENST00000537328 — 4 exons

Exon	Start	End
ENSE00002228505	61788949	61789235
ENSE00002302869	61792556	61792599
ENSE00003530755	61790493	61790602
ENSE00003547197	61789785	61789921

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 137.8472 / max 711.7331, expressed in 1824 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120026	137.8309	1824
120027	0.0164	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
type B pancreatic cell	CL:0000169	99.46	gold quality
corpus epididymis	UBERON:0004359	99.39	gold quality
parotid gland	UBERON:0001831	99.34	gold quality
body of pancreas	UBERON:0001150	99.15	gold quality
islet of Langerhans	UBERON:0000006	99.06	gold quality
olfactory bulb	UBERON:0002264	99.03	gold quality
trachea	UBERON:0003126	98.93	gold quality
cartilage tissue	UBERON:0002418	98.84	gold quality
pancreas	UBERON:0001264	98.79	gold quality
pylorus	UBERON:0001166	98.76	gold quality
periodontal ligament	UBERON:0008266	98.76	gold quality
germinal epithelium of ovary	UBERON:0001304	98.71	gold quality
mammary duct	UBERON:0001765	98.69	gold quality
bone marrow cell	CL:0002092	98.65	gold quality
endocervix	UBERON:0000458	98.64	gold quality
left ovary	UBERON:0002119	98.64	gold quality
pericardium	UBERON:0002407	98.64	gold quality
stromal cell of endometrium	CL:0002255	98.63	gold quality
seminal vesicle	UBERON:0000998	98.61	gold quality
embryo	UBERON:0000922	98.60	gold quality
pituitary gland	UBERON:0000007	98.57	gold quality
cervix squamous epithelium	UBERON:0006922	98.57	gold quality
right ovary	UBERON:0002118	98.54	gold quality
saliva-secreting gland	UBERON:0001044	98.53	gold quality
hair follicle	UBERON:0002073	98.52	gold quality
left adrenal gland	UBERON:0001234	98.51	gold quality
left adrenal gland cortex	UBERON:0035825	98.50	gold quality
adenohypophysis	UBERON:0002196	98.49	gold quality
bone marrow	UBERON:0002371	98.48	gold quality
caput epididymis	UBERON:0004358	98.47	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-MTAB-9467	yes	1099.84
E-HCAD-1	yes	84.19
E-HCAD-4	yes	46.79
E-CURD-46	yes	37.12
E-CURD-112	yes	27.64
E-HCAD-9	yes	22.75
E-CURD-122	yes	22.40
E-MTAB-10042	yes	11.50
E-MTAB-8142	yes	9.92
E-MTAB-10553	yes	8.15
E-HCAD-6	no	42.50
E-HCAD-31	no	18.84
E-GEOD-125970	no	15.35
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting TMEM258, 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-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-657	99.48	66.02	848
HSA-MIR-20A-3P	99.44	69.10	1575
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-4709-5P	98.51	67.25	1335
HSA-MIR-7843-3P	98.31	67.94	803
HSA-MIR-338-3P	98.14	67.38	1137

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 95.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 1)

• Genome-wide expression profiling identified the transcription of ADIPOR1, VAMP3 and C11ORF10 to be correlated with decreased ANRIL expression in a time-dependent manner. (PMID:23813974)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem258	ENSDARG00000078785
mus_musculus	Tmem258	ENSMUSG00000036372
rattus_norvegicus	Tmem258l3	ENSRNOG00000064883
drosophila_melanogaster	kud	FBGN0036667
caenorhabditis_elegans		WBGENE00021960

Protein

Protein identifiers

Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit TMEM258 — P61165 (reviewed: P61165)

Alternative names: Transmembrane protein 258

All UniProt accessions (3): P61165, F5GWH5, F5H7Z5

UniProt curated annotations — full annotation on UniProt →

Function. Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. Involved in ER homeostasis in the colonic epithelium.

Subunit / interactions. Component of the oligosaccharyltransferase (OST) complex. OST exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits. STT3A complex assembly occurs through the formation of 3 subcomplexes. Subcomplex 1 contains RPN1 and TMEM258, subcomplex 2 contains the STT3A-specific subunits STT3A, DC2/OSTC, and KCP2 as well as the core subunit OST4, and subcomplex 3 contains RPN2, DAD1, and OST48. The STT3A complex can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes. Interacts with SYNE1 (via KASH domain), SYNE2 (via KASH domain) and SUN1.

Subcellular location. Membrane. Endoplasmic reticulum. Cytoplasm.

Tissue specificity. Ubiquitously expressed.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the OST5 family.

RefSeq proteins (1): NP_055021* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007915	TMEM258/Ost5	Family

Pfam: PF05251

Enzyme classification (BRENDA):

• EC 2.4.99.18 — dolichyl-diphosphooligosaccharide-protein glycotransferase (BRENDA: 84 organisms, 135 substrates, 28 inhibitors, 38 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
TYR-ASN-LEU-THR-SER-VAL	0.05–0.6	3
ACETYL-ASN-ALA-THR	0.08–0.143	2
ALA-LEU-GLN-ASN-ALA-THR-ARG	0.3–0.358	2
ASN-ALA-THR	0.56–2.09	2
DIPHENYL-ALA-LEU-GLU-ASN-ALA-THR-ARG-NH2	0.072–0.23	2
TYR-GLN-SER-ASN-SER-THR-MET	0.08–0.127	2
AC-ASN-ALA-THR-NH2	2	1
AC-ASN-LEU-THR-NH2	1	1
ACETYL-ASN-LYS-THR	0.278	1
ACETYL-DFNAT-(4-NITROPHENYLALANINE)-NH2	0.0009	1
ACETYL-DFNVT-(4-NITROPHENYLALANINE)-NH2	0.0012	1
ACETYL-DQNAT-(4-NITROPHENYLALANINE)-NH2	0.0008	1
ACETYL-DVNAS-(4-NITROPHENYLALANINE)-NH2	0.003	1
ACETYL-DVNAT-(4-NITROPHENYLALANINE)-NH2	0.0011	1
ACETYL-DVNVT-(4-NITROPHENYLALANINE)-NH2	0.0014	1

UniProt features (9 total): helix 4, transmembrane region 2, chain 1, modified residue 1, strand 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
9N9J	ELECTRON MICROSCOPY	3.2
6S7O	ELECTRON MICROSCOPY	3.5
6S7T	ELECTRON MICROSCOPY	3.5
8PN9	ELECTRON MICROSCOPY	3.61
9YGY	ELECTRON MICROSCOPY	4.1
8B6L	ELECTRON MICROSCOPY	7.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P61165-F1	86.61	0.53

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 (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-9694548	Maturation of spike protein
R-HSA-9768727	Regulation of CDH1 posttranslational processing and trafficking to plasma membrane
R-HSA-9918432	Maturation of DENV proteins
R-HSA-9931295	PD-L1(CD274) glycosylation and translocation to plasma membrane

MSigDB gene sets: 158 (showing top): RRAGTTGT_UNKNOWN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GGAMTNNNNNTCCY_UNKNOWN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, SOX9_B1, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, USF_01, FOXJ2_01, GOBP_SECRETION, GOBP_EPITHELIAL_CELL_APOPTOTIC_PROCESS

GO Biological Process (6): protein N-linked glycosylation (GO:0006487), inflammatory response (GO:0006954), protein secretion (GO:0009306), response to endoplasmic reticulum stress (GO:0034976), epithelial cell apoptotic process (GO:1904019), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (2): oligosaccharyltransferase complex binding (GO:0062062), protein binding (GO:0005515)

GO Cellular Component (7): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), oligosaccharyltransferase complex (GO:0008250), membrane (GO:0016020), oligosaccharyltransferase complex A (GO:0160226), oligosaccharyltransferase complex B (GO:0160227)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Post-translational protein modification	1
Translation of Structural Proteins	1
Regulation of CDH1 Expression and Function	1
Dengue Virus Genome Translation and Replication	1
Regulation of PD-L1(CD274) Post-translational modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
oligosaccharyltransferase complex	2
glycoprotein biosynthetic process	1
defense response	1
protein transport	1
secretion by cell	1
establishment of protein localization to extracellular region	1
protein localization to extracellular region	1
cellular response to stress	1
apoptotic process	1
protein-containing complex binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
endoplasmic reticulum membrane	1
membrane protein complex	1
endoplasmic reticulum protein-containing complex	1
transferase complex	1

Protein interactions and networks

STRING

1103 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM258	DAD1	P46966	967
TMEM258	STT3A	P46977	958
TMEM258	STT3B	Q8TCJ2	943
TMEM258	OST4	P0C6T2	904
TMEM258	TUSC3	Q13454	876
TMEM258	DDOST	P39656	865
TMEM258	KRTCAP2	Q8N6L1	820
TMEM258	MAGT1	Q9H0U3	763
TMEM258	OSTC	Q9NRP0	682
TMEM258	RPN1	P04843	645
TMEM258	RPN2	P04844	642
TMEM258	FEN1	P39748	624
TMEM258	TMEM186	Q96B77	487
TMEM258	ZNF277	Q9NRM2	458
TMEM258	PSMD8	P48556	446

IntAct

37 interactions, top by confidence:

A	B	Type	Score
TMEM258	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
TMEM258	ARL6IP1	psi-mi:“MI:0915”(physical association)	0.560
TMEM258	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
TMEM258	MFSD6	psi-mi:“MI:0915”(physical association)	0.560
E	TMEM258	psi-mi:“MI:0915”(physical association)	0.560
RPN2	SMPD2	psi-mi:“MI:0914”(association)	0.530
DAD1	RPN1	psi-mi:“MI:0915”(physical association)	0.530
PCDHAC2	TMEM223	psi-mi:“MI:0914”(association)	0.530
TMEM258	SYNE1	psi-mi:“MI:0915”(physical association)	0.400
SUN1	TMEM258	psi-mi:“MI:0915”(physical association)	0.400
TMEM258	SYNE2	psi-mi:“MI:0915”(physical association)	0.400
PCDHAC2	TMEM223	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
FAM241A	PGRMC1	psi-mi:“MI:0914”(association)	0.350
CCDC47	ESYT2	psi-mi:“MI:0914”(association)	0.350
TIA1	RPN1	psi-mi:“MI:0914”(association)	0.350
TMEM258	TMEM223	psi-mi:“MI:0914”(association)	0.350
RPN2	ATP9A	psi-mi:“MI:0914”(association)	0.350
SCCPDH	IPO5	psi-mi:“MI:0914”(association)	0.350
MFSD14A	FAM171A2	psi-mi:“MI:0914”(association)	0.350
TMEM258	UBQLN1	psi-mi:“MI:0915”(physical association)	0.000
IER3IP1	TMEM258	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (53): RPN1 (Affinity Capture-MS), RPN2 (Affinity Capture-MS), STT3A (Affinity Capture-MS), DDOST (Affinity Capture-MS), STT3B (Affinity Capture-MS), MAGT1 (Affinity Capture-MS), CANX (Affinity Capture-MS), MLEC (Affinity Capture-MS), C4orf32 (Affinity Capture-MS), DAD1 (Affinity Capture-MS), SCCPDH (Affinity Capture-MS), FKBP8 (Affinity Capture-MS), CCDC167 (Affinity Capture-MS), PTPLAD1 (Affinity Capture-MS), HS2ST1 (Affinity Capture-MS)

ESM2 similar proteins: A9ULE9, B0K025, B1X3F0, E2RKN8, F1LXS7, O06752, O24301, O28116, O29246, O30092, P18033, P27709, P29574, P31924, P49036, P55522, P61165, P61166, P64445, P64446, P64447, P86218, Q01390, Q17QW0, Q28IL7, Q2HJ69, Q2KID7, Q32P84, Q3AKY6, Q3AYG7, Q43009, Q57938, Q5M9B7, Q5PR00, Q5RBD7, Q5ZJR3, Q5ZLR7, Q6GLZ9, Q6GNY6, Q6PBS6

Diamond homologs: E2RKN8, P61165, P61166, Q32P84, Q54J38, Q60WL8, Q6DDB3, Q6GP81, Q6PBS6, Q76LT9, Q965T1, Q9VVA8

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
TMEM258	“form complex”	“OST-A complex”	binding
TMEM258	“form complex”	“OST-B complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	9
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

5378 predictions. Top by Δscore:

Variant	Effect	Δscore
11:61770518:GGAGC:G	donor_gain	1.0000
11:61770519:GAGC:G	donor_gain	1.0000
11:61770521:GC:G	donor_gain	1.0000
11:61770521:GCTGA:G	donor_gain	1.0000
11:61770522:C:G	donor_gain	1.0000
11:61770524:GA:G	donor_gain	1.0000
11:61770526:G:GG	donor_gain	1.0000
11:61770530:GAC:G	donor_gain	1.0000
11:61771827:AG:A	acceptor_gain	1.0000
11:61771828:GG:G	acceptor_gain	1.0000
11:61771828:GGCC:G	acceptor_gain	1.0000
11:61771948:GAGCT:G	donor_gain	1.0000
11:61771950:GCT:G	donor_gain	1.0000
11:61771953:G:GG	donor_gain	1.0000
11:61776051:CACA:C	acceptor_loss	1.0000
11:61776054:A:AG	acceptor_gain	1.0000
11:61776054:AGCT:A	acceptor_gain	1.0000
11:61776054:AGCTG:A	acceptor_gain	1.0000
11:61776055:G:GA	acceptor_gain	1.0000
11:61776055:GC:G	acceptor_gain	1.0000
11:61776055:GCT:G	acceptor_gain	1.0000
11:61776055:GCTG:G	acceptor_gain	1.0000
11:61776055:GCTGG:G	acceptor_gain	1.0000
11:61776128:GTCAC:G	donor_gain	1.0000
11:61776129:TC:T	donor_gain	1.0000
11:61776129:TCAC:T	donor_gain	1.0000
11:61776132:CGT:C	donor_loss	1.0000
11:61776133:G:GG	donor_gain	1.0000
11:61776133:GTGA:G	donor_loss	1.0000
11:61776134:TGAG:T	donor_loss	1.0000

AlphaMissense

508 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:61789835:C:A	G67V	1.000
11:61789835:C:T	G67E	1.000
11:61789836:C:G	G67R	1.000
11:61789836:C:T	G67R	1.000
11:61789842:C:G	G65R	1.000
11:61790521:C:G	G29R	1.000
11:61789825:G:C	F70L	0.999
11:61789825:G:T	F70L	0.999
11:61789827:A:G	F70L	0.999
11:61789827:A:T	F70I	0.999
11:61789856:G:T	A60D	0.999
11:61789878:C:T	E53K	0.999
11:61790503:A:G	W35R	0.999
11:61790503:A:T	W35R	0.999
11:61790520:C:A	G29V	0.999
11:61790520:C:T	G29D	0.999
11:61790532:A:G	L25P	0.999
11:61790544:A:G	L21P	0.999
11:61789817:A:T	L73H	0.998
11:61789823:A:G	L71P	0.998
11:61789826:A:G	F70S	0.998
11:61789827:A:C	F70V	0.998
11:61789846:G:C	F63L	0.998
11:61789846:G:T	F63L	0.998
11:61789848:A:G	F63L	0.998
11:61789848:A:T	F63I	0.998
11:61789874:A:G	L54P	0.998
11:61789879:T:A	K52N	0.998
11:61789879:T:G	K52N	0.998
11:61789893:G:T	R48S	0.998

dbSNP variants (sampled 300 via entrez): RS1000681634 (11:61789451 C>T), RS1000754972 (11:61789019 T>A,C), RS1001095074 (11:61789153 G>A), RS1002302862 (11:61789564 T>C), RS1002676540 (11:61792969 C>A,T), RS1002728911 (11:61793306 GCCTA>G), RS1003234090 (11:61791478 G>A,T), RS1003936389 (11:61789221 C>A), RS1004655069 (11:61788449 C>T), RS1005841801 (11:61794508 T>C), RS1006583422 (11:61792948 G>GGA), RS1007011508 (11:61794088 A>G), RS1007038240 (11:61791003 G>A), RS1007110102 (11:61790746 T>C), RS1009021746 (11:61791201 C>G,T)

Disease associations

OMIM: gene MIM:617615 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

127 associations (top):

Study	Trait	p-value
GCST000753_8	Metabolic syndrome	6.000000e-07
GCST001178_5	Plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid)	5.000000e-58
GCST001179_10	Plasma omega-3 polyunsaturated fatty acid levels (docosapentaenoic acid)	8.000000e-153
GCST001180_5	Plasma omega-3 polyunsaturated fatty acid levels (alphalinolenic acid)	7.000000e-64
GCST001276_10	Liver enzyme levels (alkaline phosphatase)	3.000000e-09
GCST001834_5	Oleic acid (18:1n-9) levels	2.000000e-32
GCST001840_3	Stearic acid (18:0) levels	1.000000e-20
GCST002444_5	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	5.000000e-168
GCST002446_1	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	4.000000e-274
GCST002446_7	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	3.000000e-21
GCST002448_6	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	4.000000e-140
GCST002450_8	Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)	2.000000e-72
GCST002712_12	Red blood cell fatty acid levels	2.000000e-12
GCST002712_2	Red blood cell fatty acid levels	8.000000e-90
GCST002712_3	Red blood cell fatty acid levels	1.000000e-09
GCST002712_4	Red blood cell fatty acid levels	3.000000e-305
GCST002712_7	Red blood cell fatty acid levels	3.000000e-19
GCST002712_8	Red blood cell fatty acid levels	2.000000e-10
GCST002712_9	Red blood cell fatty acid levels	6.000000e-43
GCST003818_34	Resting heart rate	2.000000e-30
GCST003844_13	QRS duration	4.000000e-11
GCST004132_88	Crohn’s disease	9.000000e-07
GCST004139_2	Bipolar disorder	1.000000e-10
GCST004139_22	Bipolar disorder	6.000000e-09
GCST004601_157	Red blood cell count	4.000000e-21
GCST004604_68	Hematocrit	2.000000e-11
GCST004615_72	Hemoglobin concentration	3.000000e-14
GCST005351_10	Carboplatin disposition in epthelial ovarian cancer	6.000000e-06
GCST005648_15	Serum metabolite concentrations in chronic kidney disease	1.000000e-20
GCST005648_16	Serum metabolite concentrations in chronic kidney disease	3.000000e-32

EFO canonical traits (26, from GWAS)

EFO ID	Trait name
EFO:0000195	metabolic syndrome
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007760	eicosapentaenoic acid measurement
EFO:0006809	docosapentaenoic acid measurement
EFO:0007759	alpha-linolenic acid measurement
EFO:0004533	alkaline phosphatase measurement
EFO:0005680	omega-6 polyunsaturated fatty acid measurement
EFO:0006810	oleic acid measurement
EFO:0006808	arachidonic acid measurement
EFO:0006807	linoleic acid measurement
EFO:0006811	linolenic acid measurement
EFO:0005054	QRS complex
EFO:0004305	erythrocyte count
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0009963	bipolar I disorder
EFO:0010346	cholesteryl ester 18:3 measurement
EFO:0010434	triacylglycerol 56:7 measurement
EFO:0010387	phosphatidylcholine 38:5 measurement
EFO:0010388	phosphatidylcholine 38:6 measurement
EFO:0010389	phosphatidylcholine 40:6 measurement
EFO:0010443	triacylglycerol 58:9 measurement
EFO:0004346	neuroimaging measurement
EFO:0004327	electrocardiography
EFO:0004842	eosinophil count
EFO:0007986	reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs174541	FADS1, FEN1, MIR611, TMEM258		0.00	0
rs174538	FEN1, MIR611, TMEM258		0.00	0

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	3
bisphenol A	affects cotreatment, increases expression, decreases expression	2
Cadmium Chloride	increases abundance, increases expression	2
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
cobaltous chloride	decreases expression	1
CD 437	decreases expression	1
chloropicrin	increases expression	1
K 7174	decreases expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
ICG 001	increases expression	1
bisphenol S	affects cotreatment, increases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Vorinostat	decreases expression	1
Atrazine	increases expression	1
Cadmium	increases abundance, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Diuron	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Isoniazid	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Selenium	decreases expression	1
Smoke	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Aflatoxin B1	increases methylation	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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