SELENOK

Summary

SELENOK (selenoprotein K, HGNC:30394) is a protein-coding gene on chromosome 3p21.1, encoding Selenoprotein K (Q9Y6D0). Required for Ca(2+) flux in immune cells and plays a role in T-cell proliferation and in T-cell and neutrophil migration.

The protein encoded by this gene belongs to the selenoprotein K family. It is a transmembrane protein that is localized in the endoplasmic reticulum (ER), and is involved in ER-associated degradation (ERAD) of misfolded, glycosylated proteins. It also has a role in the protection of cells from ER stress-induced apoptosis. Knockout studies in mice show the importance of this gene in promoting Ca(2+) flux in immune cells and mounting effective immune response. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3’ UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Pseudogenes of this locus have been identified on chromosomes 6 and 19.

Source: NCBI Gene 58515 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 20 total
• MANE Select transcript: NM_021237

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30394
Approved symbol	SELENOK
Name	selenoprotein K
Location	3p21.1
Locus type	gene with protein product
Status	Approved
Aliases	SELK
Ensembl gene	ENSG00000113811
Ensembl biotype	protein_coding
OMIM	607916
Entrez	58515

Gene structure

Transcript identifiers

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

ENST00000485414, ENST00000487571, ENST00000488746, ENST00000495461

RefSeq mRNA: 1 — MANE Select: NM_021237 NM_021237

CCDS: CCDS54597

Canonical transcript exons

ENST00000495461 — 5 exons

Exon	Start	End
ENSE00000771768	53886851	53886934
ENSE00000861049	53888393	53888483
ENSE00001813144	53891770	53891859
ENSE00001864247	53884417	53885561
ENSE00003673177	53885826	53885912

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 99.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.9257 / max 398.8763, expressed in 1804 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42525	23.9257	1804

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	99.37	gold quality
corpus epididymis	UBERON:0004359	99.21	gold quality
myocardium	UBERON:0002349	99.05	gold quality
tibialis anterior	UBERON:0001385	99.00	gold quality
cardiac muscle of right atrium	UBERON:0003379	98.97	gold quality
heart right ventricle	UBERON:0002080	98.92	gold quality
pancreatic ductal cell	CL:0002079	98.85	gold quality
caput epididymis	UBERON:0004358	98.84	gold quality
islet of Langerhans	UBERON:0000006	98.80	gold quality
deltoid	UBERON:0001476	98.62	gold quality
cauda epididymis	UBERON:0004360	98.62	gold quality
upper arm skin	UBERON:0004263	98.54	gold quality
quadriceps femoris	UBERON:0001377	98.50	gold quality
pigmented layer of retina	UBERON:0001782	98.46	gold quality
cartilage tissue	UBERON:0002418	98.46	gold quality
vastus lateralis	UBERON:0001379	98.39	gold quality
adenohypophysis	UBERON:0002196	98.25	gold quality
cardiac ventricle	UBERON:0002082	98.21	gold quality
heart left ventricle	UBERON:0002084	98.19	gold quality
seminal vesicle	UBERON:0000998	98.18	gold quality
biceps brachii	UBERON:0001507	98.16	gold quality
trabecular bone tissue	UBERON:0002483	98.16	gold quality
pituitary gland	UBERON:0000007	98.15	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.10	gold quality
vena cava	UBERON:0004087	97.92	gold quality
bone marrow cell	CL:0002092	97.89	gold quality
palpebral conjunctiva	UBERON:0001812	97.89	gold quality
kidney epithelium	UBERON:0004819	97.89	gold quality
adult organism	UBERON:0007023	97.89	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.88	gold quality

Single-cell (SCXA)

Detected in 17 experiment(s), a significant marker in 15.

Experiment	Marker?	Max mean expression
E-HCAD-29	yes	4392.76
E-MTAB-9154	yes	1745.94
E-MTAB-10662	yes	1361.73
E-MTAB-10485	yes	892.27
E-HCAD-4	yes	75.04
E-HCAD-1	yes	54.21
E-CURD-46	yes	43.47
E-MTAB-8410	yes	35.13
E-GEOD-125970	yes	26.09
E-HCAD-11	yes	21.60
E-HCAD-9	yes	15.33
E-MTAB-10553	yes	8.33
E-CURD-122	yes	8.19
E-GEOD-135922	yes	8.16
E-MTAB-7303	no	1007.87

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

54 targeting SELENOK, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-6758-3P	99.57	67.55	1078
HSA-MIR-142-5P	99.48	70.92	2416
HSA-MIR-5590-3P	99.48	70.91	2429

Literature-anchored findings (GeneRIF, showing 16)

• SelK is a novel antioxidant in cardiomyocytes and is related to the regulation of cellular redox balance. (PMID:16962588)
• Human lymphocyte SelK colocalizes with endoplasmic reticulum biomarker KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum receptor. (PMID:21220695)
• Data suggest that SelK is involved in the Derlin-dependent ERAD of glycosylated misfolded proteins and that the function defined by the prototypic SelK is the widespread function of selenium in eukaryotes. (PMID:22016385)
• Polymorphisms in thioredoxin reductase and selenoprotein K genes and selenium status modulate risk of prostate cancer (PMID:23133653)
• SelK reduces hydrophobic substrates, such as phospholipid hydroperoxides, which are known to damage cell membranes. (PMID:25117454)
• IP3R palmitoylation is a critical regulator of Ca(2+) flux in immune cells and define a previously unidentified DHHC/Selk complex responsible for this process. (PMID:25368151)
• overexpression of SelK can inhibit human cancer cell Matrigel adhesion and migration (PMID:26567579)
• SELK has the dynamic structural features to be defined as a HUB protein able to interact with multiple members. (PMID:26735936)
• miR-544a expression was found to be modulated by selenium treatment, suggesting a possible role in SELK induction by selenium. (PMID:27275761)
• These results hereby imply SelK may regulate the release of Ca(2+) by CHERP and play an important role in the proliferation and differentiation of T cell by TCR stimulation. (PMID:28130108)
• The levels of SelS and SelK were decreased during adipocyte differentiation and were inversely related to the levels of peroxisome proliferator-activated receptor gamma (PPARgamma), a central regulator of adipogenesis. (PMID:30082770)
• Three crystal structures have been reported of a CRL2 substrate receptor, KLHDC2, in complex with the diglycine-ending C-end degrons of an early terminated selenoprotein, SelK, and the N-terminal proteolytic fragment of USP1. (PMID:30526872)
• Selenoprotein K enhances STING oligomerization to facilitate antiviral response. (PMID:37023217)
• Selenium-SelK-GPX4 axis protects nucleus pulposus cells against mechanical overloading-induced ferroptosis and attenuates senescence of intervertebral disc. (PMID:38252317)
• SELENOK-dependent CD36 palmitoylation regulates microglial functions and Abeta phagocytosis. (PMID:38320455)
• SelK promotes glioblastoma cell proliferation by inhibiting beta-TrCP1 mediated ubiquitin-dependent degradation of CDK4. (PMID:39155374)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	selenok	ENSDARG00000100823
mus_musculus	Selenok	ENSMUSG00000042682
rattus_norvegicus	Selenok	ENSRNOG00000078830
caenorhabditis_elegans		WBGENE00012766

Protein

Protein identifiers

Selenoprotein K — Q9Y6D0 (reviewed: Q9Y6D0)

All UniProt accessions (2): Q9Y6D0, F8WAX7

UniProt curated annotations — full annotation on UniProt →

Function. Required for Ca(2+) flux in immune cells and plays a role in T-cell proliferation and in T-cell and neutrophil migration. Involved in endoplasmic reticulum-associated degradation (ERAD) of soluble glycosylated proteins. Required for palmitoylation and cell surface expression of CD36 and involved in macrophage uptake of low-density lipoprotein and in foam cell formation. Together with ZDHHC6, required for palmitoylation of ITPR1 in immune cells, leading to regulate ITPR1 stability and function. Plays a role in protection of cells from ER stress-induced apoptosis. Protects cells from oxidative stress when overexpressed in cardiomyocytes.

Subunit / interactions. Interacts with DERL1, DERL2, DERL3 and SELENOS. The SELENOK-SELENOS complex interacts with VCP. Interacts with ZDHHC6.

Subcellular location. Endoplasmic reticulum membrane. Cell membrane.

Tissue specificity. Highly expressed in heart.

Post-translational modifications. Cleaved by CAPN2/m-calpain in resting macrophages but not in activated macrophages. Macrophage activation up-regulates expression of the calpain inhibitor CAST/calpastatin, resulting in inhibition of CAPN2 activity. Truncated SELENOK proteins produced by failed UGA/Sec decoding are ubiquitinated by the CRL2(KLHDC2) complex, which recognizes the diglycine (Gly-Gly) at the C-terminus of truncated SELENOK proteins.

Induction. By ER stress (at protein level). Displays a slow increase with a lag phase of 6 hours but exhibits a dramatic increase after incubation with ER stress agents for more than 12 hours with maximum induction at 24 hours. Also induced by accumulation of misfolded proteins in the ER.

Similarity. Belongs to the selenoprotein K family.

RefSeq proteins (1): NP_067060* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024491	Se_SelK/SelG	Family

Pfam: PF10961

UniProt features (8 total): initiator methionine 1, chain 1, transmembrane region 1, region of interest 1, site 1, non-standard amino acid 1, sequence variant 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6DO3	X-RAY DIFFRACTION	2.17

Predicted structure (AlphaFold)

No AlphaFold model available for Q9Y6D0 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 81–82 (cleavage; by capn2)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 236 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_POSITIVE_REGULATION_OF_LYMPHOCYTE_MIGRATION, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_REGULATION_OF_MONONUCLEAR_CELL_MIGRATION

GO Biological Process (22): positive regulation of defense response to virus by host (GO:0002230), calcium ion transport (GO:0006816), response to oxidative stress (GO:0006979), macrophage derived foam cell differentiation (GO:0010742), protein palmitoylation (GO:0018345), endoplasmic reticulum calcium ion homeostasis (GO:0032469), positive regulation of interleukin-6 production (GO:0032755), positive regulation of tumor necrosis factor production (GO:0032760), T cell proliferation (GO:0042098), positive regulation of T cell proliferation (GO:0042102), respiratory burst after phagocytosis (GO:0045728), regulation of calcium-mediated signaling (GO:0050848), regulation of protein transport (GO:0051223), establishment of localization in cell (GO:0051649), intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059), positive regulation of monocyte chemotactic protein-1 production (GO:0071639), T cell migration (GO:0072678), positive regulation of neutrophil migration (GO:1902624), neutrophil migration (GO:1990266), positive regulation of T cell migration (GO:2000406), monoatomic ion transport (GO:0006811), positive regulation of chemokine production (GO:0032722)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (5): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
regulation of defense response to virus by host	1
metal ion transport	1
response to stress	1
foam cell differentiation	1
protein lipidation	1
protein acylation	1
endoplasmic reticulum	1
intracellular calcium ion homeostasis	1
positive regulation of cytokine production	1
interleukin-6 production	1
regulation of interleukin-6 production	1
tumor necrosis factor production	1
regulation of tumor necrosis factor production	1
positive regulation of tumor necrosis factor superfamily cytokine production	1
T cell activation	1
lymphocyte proliferation	1
T cell proliferation	1
regulation of T cell proliferation	1
positive regulation of lymphocyte proliferation	1
positive regulation of T cell activation	1
respiratory burst involved in defense response	1
calcium-mediated signaling	1
regulation of intracellular signal transduction	1
protein transport	1
regulation of transport	1
regulation of establishment of protein localization	1
establishment of localization	1
cellular localization	1
response to endoplasmic reticulum stress	1
intrinsic apoptotic signaling pathway	1
positive regulation of chemokine production	1
monocyte chemotactic protein-1 production	1
regulation of monocyte chemotactic protein-1 production	1
lymphocyte migration	1
positive regulation of leukocyte migration	1
regulation of neutrophil migration	1
neutrophil migration	1

Protein interactions and networks

STRING

1266 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SELENOK	SELENOS	Q9BQE4	961
SELENOK	SELENOT	P62341	918
SELENOK	SELENOO	Q9BVL4	917
SELENOK	SELENON	Q9NZV5	914
SELENOK	SECISBP2	Q96T21	900
SELENOK	ZDHHC6	Q9H6R6	893
SELENOK	SELENOF	O60613	892
SELENOK	SELENOH	Q8IZQ5	878
SELENOK	SELENOM	Q8WWX9	874
SELENOK	MSRB1	Q9NZV6	865
SELENOK	SELENOW	P63302	858
SELENOK	SELENOV	P59797	854
SELENOK	SEPHS2	Q99611	844
SELENOK	SELENOI	Q9C0D9	811
SELENOK	VCP	P55072	804

IntAct

101 interactions, top by confidence:

A	B	Type	Score
SELENOK	FFAR2	psi-mi:“MI:0915”(physical association)	0.560
SELENOK	MTIF3	psi-mi:“MI:0915”(physical association)	0.560
SELENOK	CPLX4	psi-mi:“MI:0915”(physical association)	0.560
SELENOK	TMX2	psi-mi:“MI:0915”(physical association)	0.560
SELENOK	MRM1	psi-mi:“MI:0915”(physical association)	0.560
	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
BIK	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
TMPRSS2	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
AQP6	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
SLC10A1	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
AMIGO1	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
REEP4	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
SLC35E3	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
GORAB	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
IL10RA	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
ERGIC3	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
MFSD6	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
FFAR2	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
MMD	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
MTIF3	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
FAM209A	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
MUC1	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
RNF19B	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
STOM	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
C6orf47	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
GPX8	SELENOK	psi-mi:“MI:0915”(physical association)	0.560
CPLX4	SELENOK	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (70): SELK (Affinity Capture-MS), SELK (Two-hybrid), SELK (Affinity Capture-Western), VIMP (Affinity Capture-Western), SELK (PCA), SELK (Two-hybrid), SELK (Affinity Capture-MS), SELK (Affinity Capture-MS), SELK (Affinity Capture-RNA), SELK (Reconstituted Complex), VCP (Affinity Capture-Western), SELK (Affinity Capture-MS), SELK (Affinity Capture-Western), PPARG (Reconstituted Complex), PPARG (Affinity Capture-Western)

ESM2 similar proteins: A2VDK6, A2VDV9, F1SR90, O15126, O15127, O77735, P04973, P04975, P08082, P09496, P09497, P56603, P59798, Q01H83, Q0P5B1, Q2EN82, Q2KI76, Q2M146, Q32PE3, Q3C2P8, Q4R8M1, Q5R491, Q5RDN2, Q5REX0, Q5U2R7, Q641S4, Q66I79, Q6GR00, Q6IRU5, Q6PCP5, Q6S9C4, Q7RWT0, Q7Z698, Q86T20, Q8R043, Q8VHI6, Q8VHV8, Q91Y53, Q92968, Q96BY9

Diamond homologs: P59798, Q01H83, Q2EN82, Q32PE3, Q4R8M1, Q55EX3, Q641S4, Q66I79, Q6S9C4, Q9JLJ1, Q9Y6D0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	13
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

652 predictions. Top by Δscore:

Variant	Effect	Δscore
3:53885557:TTTAC:T	acceptor_gain	1.0000
3:53885558:TTAC:T	acceptor_gain	1.0000
3:53885559:TAC:T	acceptor_gain	1.0000
3:53885560:AC:A	acceptor_gain	1.0000
3:53885561:CC:C	acceptor_gain	1.0000
3:53885562:C:CC	acceptor_gain	1.0000
3:53885828:T:TA	donor_gain	1.0000
3:53886845:CTGTA:C	donor_loss	1.0000
3:53886847:GTACC:G	donor_loss	1.0000
3:53886848:TAC:T	donor_loss	1.0000
3:53886849:A:AC	donor_gain	1.0000
3:53886849:A:AT	donor_loss	1.0000
3:53886849:AC:A	donor_gain	1.0000
3:53886850:C:CA	donor_loss	1.0000
3:53886850:C:CC	donor_gain	1.0000
3:53886850:CC:C	donor_gain	1.0000
3:53886850:CCCT:C	donor_gain	1.0000
3:53886853:T:A	donor_gain	1.0000
3:53886856:T:TA	donor_gain	1.0000
3:53886857:C:A	donor_gain	1.0000
3:53886930:TGAAA:T	acceptor_gain	1.0000
3:53886931:GAAA:G	acceptor_gain	1.0000
3:53886932:AAAC:A	acceptor_loss	1.0000
3:53886933:AA:A	acceptor_gain	1.0000
3:53886933:AACTG:A	acceptor_loss	1.0000
3:53886934:AC:A	acceptor_loss	1.0000
3:53886935:C:CC	acceptor_gain	1.0000
3:53886941:C:CT	acceptor_gain	1.0000
3:53886942:A:T	acceptor_gain	1.0000
3:53888391:A:AC	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000869919 (3:53884060 G>A), RS1001156667 (3:53884421 C>T), RS1001312325 (3:53887322 G>A,C), RS1001411475 (3:53886745 G>A), RS1002285068 (3:53892658 G>A,T), RS1002439078 (3:53891525 C>T), RS1003695311 (3:53891679 C>G,T), RS1003746434 (3:53885315 T>A,C), RS1003799077 (3:53884991 A>G), RS1003852523 (3:53892697 A>T), RS1004447584 (3:53888237 C>A), RS1004514614 (3:53891128 C>G), RS1004595938 (3:53889451 G>A), RS1005195240 (3:53887849 G>A), RS1005300685 (3:53893768 G>A)

Disease associations

OMIM: gene MIM:607916 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002115_6	Axial length	8.000000e-06
GCST005951_50	Body mass index	5.000000e-11
GCST009391_1301	Metabolite levels	7.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005318	axial length measurement
EFO:0004340	body mass index
EFO:0010517	oxalate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression, affects cotreatment, increases abundance	3
Estradiol	affects cotreatment, increases expression, decreases expression	3
Tobacco Smoke Pollution	increases expression	3
Cyclosporine	increases expression	3
bisphenol F	affects cotreatment, increases methylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
cobaltous chloride	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
cupric chloride	increases expression	1
nickel sulfate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
NSC 689534	affects binding, increases expression	1
MT19c compound	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	decreases expression	1
Bortezomib	increases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Norethindrone Acetate	affects cotreatment, increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Air Pollutants, Occupational	increases expression	1
Arsenic	increases expression, affects cotreatment, increases abundance	1
Cisplatin	increases expression	1
Copper	affects binding, increases expression	1
Diuron	decreases expression	1
Doxorubicin	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TK52	HAP1 SELK (-) 1	Cancer cell line	Male
CVCL_TK53	HAP1 SELK (-) 2	Cancer cell line	Male
CVCL_TK54	HAP1 SELK (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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