SIVA1

Summary

SIVA1 (SIVA1 apoptosis inducing factor, HGNC:17712) is a protein-coding gene on chromosome 14q32.33, encoding Apoptosis regulatory protein Siva (O15304). Induces CD27-mediated apoptosis. It is a selective cancer dependency (DepMap: 11.1% of cell lines).

This gene encodes an E3 ubiquitin ligase that regulates cell cycle progression, cell proliferation and apoptosis. The N-terminus of this protein binds to the cytoplasmic tail of the CD27 antigen, a member of the tumor necrosis factor receptor (TNFR) superfamily. In response to UV radiation-induced DNA damage, this protein has been shown to mediate the ubiquitination of proliferating cell nuclear antigen (PCNA), an important step in translesion DNA synthesis.

Source: NCBI Gene 10572 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 42 total
• Cancer dependency (DepMap): dependent in 11.1% of screened cell lines
• MANE Select transcript: NM_006427

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17712
Approved symbol	SIVA1
Name	SIVA1 apoptosis inducing factor
Location	14q32.33
Locus type	gene with protein product
Status	Approved
Aliases	SIVA, Siva-1, Siva-2, CD27BP
Ensembl gene	ENSG00000184990
Ensembl biotype	protein_coding
OMIM	605567
Entrez	10572

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000329967, ENST00000347067, ENST00000535554, ENST00000553810, ENST00000553819, ENST00000554013, ENST00000556195, ENST00000556431, ENST00000862413, ENST00000862414, ENST00000928313

RefSeq mRNA: 2 — MANE Select: NM_006427 NM_006427, NM_021709

CCDS: CCDS9992, CCDS9993

Canonical transcript exons

ENST00000329967 — 4 exons

Exon	Start	End
ENSE00001290218	104756604	104756760
ENSE00001304289	104753147	104753319
ENSE00002523289	104759428	104759654
ENSE00003682029	104755630	104755824

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 98.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.3424 / max 446.3323, expressed in 1818 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141841	25.1458	1802
141840	14.1965	1804

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endometrium epithelium	UBERON:0004811	98.56	gold quality
popliteal artery	UBERON:0002250	98.11	gold quality
tibial artery	UBERON:0007610	98.11	gold quality
aorta	UBERON:0000947	97.77	gold quality
mucosa of stomach	UBERON:0001199	97.52	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.49	gold quality
thoracic aorta	UBERON:0001515	97.48	gold quality
ascending aorta	UBERON:0001496	97.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.42	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.42	gold quality
lower esophagus	UBERON:0013473	97.41	gold quality
adenohypophysis	UBERON:0002196	97.39	gold quality
right testis	UBERON:0004534	97.32	gold quality
left testis	UBERON:0004533	97.30	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.25	gold quality
descending thoracic aorta	UBERON:0002345	97.20	gold quality
oocyte	CL:0000023	97.11	gold quality
right coronary artery	UBERON:0001625	97.10	gold quality
right lobe of liver	UBERON:0001114	97.06	gold quality
left coronary artery	UBERON:0001626	97.06	gold quality
endocervix	UBERON:0000458	97.00	gold quality
left uterine tube	UBERON:0001303	96.97	gold quality
gastrocnemius	UBERON:0001388	96.92	gold quality
right atrium auricular region	UBERON:0006631	96.89	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	96.84	gold quality
ectocervix	UBERON:0012249	96.83	gold quality
mucosa of transverse colon	UBERON:0004991	96.79	gold quality
right ovary	UBERON:0002118	96.78	gold quality
left ovary	UBERON:0002119	96.74	gold quality
coronary artery	UBERON:0001621	96.70	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	45.94
E-GEOD-125970	yes	22.34
E-MTAB-9467	yes	14.17
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1, EGR1, TP53

miRNA regulators (miRDB)

13 targeting SIVA1, 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-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-651-5P	99.64	68.49	1104
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-583	98.71	67.44	1791
HSA-MIR-10398-5P	97.12	64.94	1051
HSA-MIR-215-3P	97.02	68.01	1209
HSA-MIR-3177-3P	92.33	62.02	156

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 11.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 29)

• Siva-1 putative amphipathic helical region (SAH) binds BCL-XL and sensitizes cells to UV radiation induced apoptosis (PMID:14739602)
• Overexpression of Siva-1 in T lymphocytes triggers the activation of a caspase-dependent death pathway including a pivotal mitochondrial step. Both N- and C-terminal domains of Siva proteins display the ability to induce a cell death process in T cells. (PMID:15034012)
• Siva-1 has a role, through its inhibitory effect on NF-kappaB activity, in TCR-mediated AICD with implications in peripheral tolerance, T-cell homeostasis and cancer (PMID:16491128)
• determined the N-terminal part of Siva as the binding region for CD27; the peroxisomal membrane protein PMP22 is a new interaction partner of Siva and may be involved in the host response against CVB3. (PMID:16683188)
• Confirming the anti-apoptotic role of HPV-16 E7 in the HaCaT cellular model, evaluated by nuclear morphology, it was also found that Siva-1 expression produced a significant increase of the apoptotic rate in UV radiation-exposed HaCaT cells. (PMID:17348035)
• Results suggest that Siva-1 might participate in the CD4-initiated signaling apoptotic pathway induced by the HIV-1 envelope in T-lymphoid cells. (PMID:17653867)
• lysophosphatidic acid 2 receptor mediates down-regulation of Siva-1 to promote cell survival (PMID:17965021)
• Data show that Siva and pyrin are co-expressed, and that pyrin modulates the apoptotic response to oxidative stress mediated by Siva. (PMID:18330885)
• Telethonin might be involved in CVB3-mediated cell damage and in the resulting cardiac dysfunction due to the interaction with Siva. (PMID:18849585)
• Siva-1 has a role in negatively regulating NF-kappaB activation by targeting TRAF2. (PMID:19392652)
• Siva1 is an important mediator for the Hdm2-p53 interaction and is an integral component of the negative feedback mechanism for p53 inhibition. (PMID:19590512)
• Siva-1 forms a functional complex with Tyk2 and participates in the transduction of signals that inhibit B lymphocyte growth. (PMID:20727854)
• These results suggest that Siva-mediated unprovoked apoptosis is not likely to be involved in the pathogenesis of Familial Mediterranean fever. (PMID:20934406)
• These findings suggest that the caspase-dependent pathway for induction of apoptosis is involved in Siva-1-mediated influenza A virus replication. (PMID:21048035)
• Data show that low levels of Siva1 and Ser16-phosphorylated stathmin correlate with high metastatic states of breast cancer cells. (PMID:21768358)
• negative regulator of IL-2 gene expression in Treg cells (PMID:21955384)
• Upon stimulation of thromboxane A2, degradation of Siva1 is impeded, resulting in an accumulation of the protein, which translocates from the nucleus to the cytosol. (PMID:22343716)
• Siva1 promotes the ubiquitination and degradation of ARF, which in turn affects the stability of p53. (PMID:23462994)
• SIVA1 interacts with RAD18 and serves as a molecular bridge between RAD18 and PCNA, thus targeting the E3 ligase activity of RAD18 onto PCNA. (PMID:24958773)
• Functional test demonstrated that Siva1 significantly inhibited the invasion and migration of HCT116 cells. (PMID:25374190)
• electrical stimulation -inducible SIVA1 modulates p53 activities in proliferating keratinocytes, and exogenous electrical stimulation affects p53/HDM2/SIVA1 axis leading to increased proliferation during re-epithelialization (PMID:25431847)
• These findings collectively reveal a novel role for the p53 target gene SIVA both in regulating metabolism and in enabling tumorigenesis, independently of p53. (PMID:25813352)
• Loss of SIVA1 expression is associated with nasopharyngeal carcinoma. (PMID:26406409)
• SIVA1 enhances SSBP3 ubiquitination and promotes SSBP3 protein turnover (PMID:30363057)
• PM2.5 exposure induces alveolar epithelial cell apoptosis and causes emphysema through p53/Siva-1. (PMID:32329870)
• Siva1 regulates multidrug resistance of gastric cancer by targeting MDR1 and MRP1 via the NFkappaB pathway. (PMID:32626967)
• N6-methyladenosine demethylase FTO enhances chemo-resistance in colorectal cancer through SIVA1-mediated apoptosis. (PMID:36307991)
• Inhibition of apoptosis-regulatory protein Siva-1 reverses multidrug resistance in gastric cancer by targeting PCBP1. (PMID:37303491)
• Mutation of SIVA, a candidate metastasis gene identified from clonally related bilateral breast cancers, promotes breast cancer cell spread in vitro and in vivo. (PMID:38722955)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	siva1	ENSDARG00000114552
mus_musculus	Siva1	ENSMUSG00000064326
rattus_norvegicus	Siva1	ENSRNOG00000028640

Protein

Protein identifiers

Apoptosis regulatory protein Siva — O15304 (reviewed: O15304)

Alternative names: CD27-binding protein

All UniProt accessions (5): O15304, B4DTY2, G3V3U1, G3V439, H0YJN1

UniProt curated annotations — full annotation on UniProt →

Function. Induces CD27-mediated apoptosis. Inhibits BCL2L1 isoform Bcl-x(L) anti-apoptotic activity. Inhibits activation of NF-kappa-B and promotes T-cell receptor-mediated apoptosis.

Subunit / interactions. Binds through its N-terminal region to the C-terminus of CD27 and to PXMP2/PMP22. Binds to the C-terminus of TNFRSF18/GITR. Isoform 1 binds to BCL2L1/BCLX isoform Bcl-x(L) but not to BAX. (Microbial infection) Interacts with coxsackievirus B3 capsid protein VP2; this interaction inhibits the binding of SIVA1 to CD27.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Ubiquitous. Mostly expressed in thymus, testis, ovary, prostate, small intestine and spleen and less in colon.

Post-translational modifications. Phosphorylated by ABL2/ARG in response to oxidative stress.

Cofactor. Isoform 1 binds 3 Zn(2+) ions. Isoform 2 binds 2 Zn(2+) ions.

Miscellaneous. Mouse isoform 2 has been shown to have no pro-apoptotic activity. However, human isoform 2 has been shown to be capable of inducing apoptosis.

Isoforms (2)

UniProt ID	Names	Canonical?
O15304-1	1, Siva-1	yes
O15304-2	2, Siva-2

RefSeq proteins (2): NP_006418, NP_068355 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR022773	Siva	Family

Pfam: PF05458

UniProt features (8 total): region of interest 2, modified residue 2, mutagenesis site 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15304-F1	76.34	0.21

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 (2): 34, 70

Mutagenesis-validated functional residues (2):

Position	Phenotype
34	abolishes phosphorylation and apoptotic activity.
53	no effect on phosphorylation or apoptotic activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 224 (showing top): MODULE_93, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_T_CELL_HOMEOSTASIS, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_LYMPHOCYTE_HOMEOSTASIS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_MITOCHONDRIAL_TRANSPORT, GOLDRATH_ANTIGEN_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_REGULATION_OF_MITOCHONDRION_ORGANIZATION, GOBP_REGULATION_OF_IMMUNE_RESPONSE

GO Biological Process (9): activation-induced cell death of T cells (GO:0006924), negative regulation of canonical NF-kappaB signal transduction (GO:0043124), T cell receptor signaling pathway (GO:0050852), T cell apoptotic process (GO:0070231), extrinsic apoptotic signaling pathway (GO:0097191), intrinsic apoptotic signaling pathway (GO:0097193), positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030), apoptotic process (GO:0006915), symbiont entry into host cell (GO:0046718)

GO Molecular Function (7): virus receptor activity (GO:0001618), tumor necrosis factor receptor binding (GO:0005164), CD27 receptor binding (GO:0005175), zinc ion binding (GO:0008270), metal ion binding (GO:0046872), protein binding (GO:0005515), 2 iron, 2 sulfur cluster binding (GO:0051537)

GO Cellular Component (4): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
apoptotic signaling pathway	3
tumor necrosis factor receptor superfamily binding	2
cellular anatomical structure	2
intracellular membrane-bounded organelle	2
T cell homeostasis	1
T cell apoptotic process	1
canonical NF-kappaB signal transduction	1
regulation of canonical NF-kappaB signal transduction	1
negative regulation of intracellular signal transduction	1
antigen receptor-mediated signaling pathway	1
lymphocyte apoptotic process	1
cell surface receptor signaling pathway	1
intracellular signal transduction	1
positive regulation of organelle organization	1
positive regulation of mitochondrial membrane permeability	1
positive regulation of transport	1
mitochondrial outer membrane permeabilization	1
regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	1
programmed cell death	1
execution phase of apoptosis	1
viral life cycle	1
symbiont entry into host	1
symbiont entry into host cell	1
exogenous protein binding	1
transition metal ion binding	1
cation binding	1
binding	1
iron-sulfur cluster binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

798 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SIVA1	CD27	P26842	950
SIVA1	BCL2L1	Q07817	820
SIVA1	NHERF2	Q15599	646
SIVA1	CD70	P32970	638
SIVA1	TNFRSF18	Q9Y5U5	628
SIVA1	AIFM1	O95831	584
SIVA1	TNFRSF4	P43489	505
SIVA1	TNFRSF8	P28908	497
SIVA1	TRIP6	Q15654	488
SIVA1	LPAR2	Q9HBW0	479
SIVA1	CDKN2A	P42771	467
SIVA1	S100A8	P05109	466
SIVA1	RAD18	Q9NS91	456
SIVA1	TRPC6	Q9Y210	448
SIVA1	FADD	Q13158	438

IntAct

22 interactions, top by confidence:

A	B	Type	Score
CD27	SIVA1	psi-mi:“MI:0915”(physical association)	0.630
SIVA1	CD27	psi-mi:“MI:0915”(physical association)	0.630
E7	SIVA1	psi-mi:“MI:0915”(physical association)	0.580
SIVA1	E7	psi-mi:“MI:0915”(physical association)	0.580
PXMP2	SIVA1	psi-mi:“MI:0915”(physical association)	0.510
SIVA1	PXMP2	psi-mi:“MI:0915”(physical association)	0.510
SIVA1	BCL2L1	psi-mi:“MI:0915”(physical association)	0.400
BCL2L1	SIVA1	psi-mi:“MI:0915”(physical association)	0.400
BCL2	SIVA1	psi-mi:“MI:0915”(physical association)	0.400
PCNA	SIVA1	psi-mi:“MI:0915”(physical association)	0.370
BEX3	SIVA1	psi-mi:“MI:0915”(physical association)	0.370
erpA	SIVA1	psi-mi:“MI:0915”(physical association)	0.000
pyrE	SIVA1	psi-mi:“MI:0915”(physical association)	0.000
SIVA1	MYZAP	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (99): CDKN2A (Reconstituted Complex), SIVA1 (Two-hybrid), SIVA1 (Affinity Capture-Western), SIVA1 (Phenotypic Enhancement), TYK2 (Affinity Capture-Western), SIVA1 (Two-hybrid), SIVA1 (Affinity Capture-Western), SIVA1 (Phenotypic Enhancement), SIVA1 (Two-hybrid), CD4 (Reconstituted Complex), TCAP (Two-hybrid), SIVA1 (Reconstituted Complex), SIVA1 (Two-hybrid), SIVA1 (Affinity Capture-Western), STMN1 (Two-hybrid)

ESM2 similar proteins: A2Y040, D3ZVU1, E1BC52, G3X912, O15304, O43900, O54880, O54926, O73916, P59692, P86346, Q08AE8, Q0IH40, Q0VCH3, Q0VDN7, Q1LXR6, Q24371, Q38741, Q3UIW5, Q3UJP5, Q4VBF2, Q58D79, Q5BKU9, Q5EA28, Q5XI59, Q657C0, Q67V61, Q6AVZ9, Q6DRL4, Q6NVV7, Q757Y7, Q75LH6, Q768S4, Q8BQ33, Q8K1S6, Q8R3A2, Q8R4R9, Q8R4S0, Q8RWM3, Q8TAE6

Diamond homologs: O15304, O54926, P59692

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ABL2	up-regulates	SIVA1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	37
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

604 predictions. Top by Δscore:

Variant	Effect	Δscore
14:104753310:G:GT	donor_gain	1.0000
14:104753320:G:GG	donor_gain	1.0000
14:104753320:GT:G	donor_loss	1.0000
14:104753321:T:A	donor_loss	1.0000
14:104759414:T:A	acceptor_gain	1.0000
14:104753315:CTTCG:C	donor_gain	0.9900
14:104753317:TCG:T	donor_gain	0.9900
14:104755628:A:AG	acceptor_gain	0.9900
14:104755629:G:GG	acceptor_gain	0.9900
14:104755629:GAGAA:G	acceptor_gain	0.9900
14:104755821:GCTG:G	donor_gain	0.9900
14:104756756:GTGGA:G	donor_gain	0.9900
14:104756761:G:GG	donor_gain	0.9900
14:104759417:C:A	acceptor_gain	0.9900
14:104759423:C:A	acceptor_gain	0.9900
14:104759423:CGCA:C	acceptor_loss	0.9900
14:104759426:A:AG	acceptor_gain	0.9900
14:104759426:AGCT:A	acceptor_gain	0.9900
14:104759426:AGCTG:A	acceptor_loss	0.9900
14:104759427:G:GG	acceptor_gain	0.9900
14:104759427:GC:G	acceptor_gain	0.9900
14:104759427:GCT:G	acceptor_gain	0.9900
14:104759427:GCTG:G	acceptor_gain	0.9900
14:104759427:GCTGC:G	acceptor_gain	0.9900
14:104753270:G:GT	donor_gain	0.9800
14:104753322:GAGTG:G	donor_loss	0.9800
14:104755629:GA:G	acceptor_gain	0.9800
14:104755822:CTGGT:C	donor_loss	0.9800
14:104755823:TGG:T	donor_loss	0.9800
14:104755825:G:GG	donor_gain	0.9800

AlphaMissense

1122 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:104753252:G:C	K17N	0.968
14:104753252:G:T	K17N	0.968
14:104753223:T:C	F8L	0.961
14:104753225:C:A	F8L	0.961
14:104753225:C:G	F8L	0.961
14:104753316:T:C	F39L	0.951
14:104753318:C:A	F39L	0.951
14:104753318:C:G	F39L	0.951
14:104753210:G:C	K3N	0.950
14:104753210:G:T	K3N	0.950
14:104755656:G:T	G49W	0.933
14:104759456:T:C	C167R	0.930
14:104755645:T:C	L45P	0.927
14:104753250:A:G	K17E	0.926
14:104755636:C:T	T42I	0.925
14:104755786:G:T	G92V	0.918
14:104756738:T:C	C150R	0.918
14:104756630:T:C	C114R	0.916
14:104755774:T:A	I88N	0.905
14:104753251:A:C	K17T	0.904
14:104755648:T:A	L46Q	0.904
14:104755650:T:C	F47L	0.904
14:104755652:C:A	F47L	0.904
14:104755652:C:G	F47L	0.904
14:104756669:T:C	C127R	0.903
14:104759474:T:C	F173L	0.902
14:104759476:C:A	F173L	0.902
14:104759476:C:G	F173L	0.902
14:104755657:G:A	G49E	0.899
14:104756632:T:G	C114W	0.899

dbSNP variants (sampled 300 via entrez): RS1000321908 (14:104751244 C>T), RS1000703057 (14:104754259 C>T), RS1000920333 (14:104760126 T>G), RS1001233178 (14:104754659 T>G), RS1001290359 (14:104755030 T>C), RS1002442380 (14:104760042 A>G), RS1003081820 (14:104756209 G>A), RS1003103009 (14:104757966 C>G,T), RS1003103086 (14:104755567 T>C), RS1003300575 (14:104759749 G>A,T), RS1003414110 (14:104754836 C>T), RS1003544986 (14:104757664 G>C), RS10047838 (14:104751968 G>A,C), RS1005017245 (14:104751601 G>A), RS1005237251 (14:104760066 C>T)

Disease associations

OMIM: gene MIM:605567 | 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
GCST003524_5	Endometrial cancer	4.000000e-08
GCST003525_4	Endometrial endometrioid carcinoma	4.000000e-08
GCST010653_85	Thyroid stimulating hormone levels	2.000000e-16

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:1001514	endometrial endometrioid carcinoma

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, decreases expression, increases expression	3
Cisplatin	decreases expression, decreases reaction, increases expression	3
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, affects expression	2
Benzo(a)pyrene	increases methylation, decreases expression	2
Ozone	increases oxidation, increases abundance, affects expression, affects cotreatment	2
Valproic Acid	increases expression, affects expression	2
Cyclosporine	decreases expression	2
dicrotophos	decreases expression	1
beauvericin	decreases expression	1
chloroacetaldehyde	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	affects expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
chromium hexavalent ion	decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
Bortezomib	decreases expression	1
Cidofovir	increases expression	1
Acetaminophen	affects expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants, Occupational	affects expression	1
Arsenic	increases methylation	1
Calcitriol	decreases expression, affects cotreatment	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3H1	Abcam HEK293T SIVA1 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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