ETNK1

gene
On this page

Also known as EKI1EKI

Summary

ETNK1 (ethanolamine kinase 1, HGNC:24649) is a protein-coding gene on chromosome 12p12.1, encoding Ethanolamine kinase 1 (Q9HBU6). Highly specific for ethanolamine phosphorylation.

This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Source: NCBI Gene 55500 — RefSeq curated summary.

At a glance

  • GWAS associations: 6
  • Clinical variants (ClinVar): 58 total — 1 pathogenic
  • MANE Select transcript: NM_018638

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:24649
Approved symbolETNK1
Nameethanolamine kinase 1
Location12p12.1
Locus typegene with protein product
StatusApproved
AliasesEKI1, EKI
Ensembl geneENSG00000139163
Ensembl biotypeprotein_coding
OMIM609858
Entrez55500

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 10 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000266517, ENST00000335148, ENST00000538218, ENST00000539974, ENST00000544191, ENST00000545979, ENST00000671733, ENST00000672951, ENST00000672995, ENST00000673188, ENST00000673406, ENST00000673496, ENST00000864020, ENST00000864021, ENST00000930361, ENST00000960838

RefSeq mRNA: 2 — MANE Select: NM_018638 NM_001039481, NM_018638

CCDS: CCDS41760, CCDS8698

Canonical transcript exons

ENST00000266517 — 8 exons

ExonStartEnd
ENSE000011415832268488222690665
ENSE000011770682267127222671355
ENSE000011770712266106322661205
ENSE000011770822264376322644022
ENSE000034833292265901422659154
ENSE000035225832268448322684556
ENSE000035478022267350022673660
ENSE000038955062262517122625586

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 98.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 55.1864 / max 4162.5481, expressed in 1820 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
12470319.29821801
12471013.73011535
12470413.68271779
1247066.24591650
1247051.83071183
1247080.3988157

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
jejunal mucosaUBERON:000039998.07gold quality
mucosa of transverse colonUBERON:000499197.23gold quality
adrenal tissueUBERON:001830397.18gold quality
bronchial epithelial cellCL:000232896.82gold quality
pigmented layer of retinaUBERON:000178296.44gold quality
retinaUBERON:000096696.41gold quality
ileal mucosaUBERON:000033196.25gold quality
mucosa of paranasal sinusUBERON:000503096.14gold quality
germinal epithelium of ovaryUBERON:000130496.06gold quality
colonic mucosaUBERON:000031795.28gold quality
mucosa of sigmoid colonUBERON:000499394.76gold quality
tibiaUBERON:000097994.59gold quality
caput epididymisUBERON:000435894.46gold quality
epithelium of nasopharynxUBERON:000195194.44gold quality
corpus epididymisUBERON:000435994.21gold quality
calcaneal tendonUBERON:000370193.52gold quality
islet of LangerhansUBERON:000000693.34gold quality
visceral pleuraUBERON:000240193.32gold quality
duodenumUBERON:000211493.07gold quality
colonic epitheliumUBERON:000039792.86gold quality
endometriumUBERON:000129592.85gold quality
stromal cell of endometriumCL:000225592.62gold quality
rectumUBERON:000105292.51gold quality
eyeUBERON:000097092.40gold quality
cartilage tissueUBERON:000241892.39gold quality
cortical plateUBERON:000534392.35gold quality
superficial temporal arteryUBERON:000161492.25gold quality
ganglionic eminenceUBERON:000402392.25gold quality
parietal pleuraUBERON:000240092.10gold quality
gall bladderUBERON:000211091.94gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-GEOD-125970yes17.40
E-MTAB-8894no209.50
E-ENAD-27no11.99
E-ANND-3no0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ZNF569

miRNA regulators (miRDB)

392 targeting ETNK1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-5692A100.0074.406850
HSA-MIR-4262100.0073.263931
HSA-MIR-340-5P100.0072.504437
HSA-MIR-3163100.0077.238605
HSA-MIR-3064-3P100.0070.091254
HSA-MIR-3646100.0073.565283
HSA-MIR-428299.9975.366408
HSA-MIR-366299.9973.825684
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-450099.9972.722367
HSA-MIR-3667-3P99.9967.171636
HSA-MIR-196A-1-3P99.9972.152772
HSA-MIR-513B-5P99.9969.962150
HSA-MIR-569699.9872.364487
HSA-MIR-480399.9871.993117
HSA-MIR-477599.9875.006394
HSA-MIR-548P99.9872.253784
HSA-MIR-1213699.9872.815713
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-56899.9869.862084
HSA-LET-7A-5P99.9872.291790
HSA-LET-7B-5P99.9872.311790
HSA-LET-7C-5P99.9872.291790
HSA-LET-7E-5P99.9872.291790

Literature-anchored findings (GeneRIF, showing 6)

  • DAD-R, SOX5, and EKI1 map within region of chromosome 12p whose duplication is related to reduced apoptosis in human testicular seminomas. (PMID:11912161)
  • Recurrent ETNK1 mutations are associated with chronic myeloid leukemia. (PMID:25343957)
  • we identified novel somatic missense ETNK1 mutations that were most frequent in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia (PMID:25615281)
  • miR-199a-3p regulates the invasion and migration of gastric cancer cells by targeting ETNK1 (PMID:31255331)
  • ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine. (PMID:33230096)
  • ETNK1 mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia. (PMID:36583229)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_rerioetnk1ENSDARG00000019420
mus_musculusEtnk1ENSMUSG00000030275
rattus_norvegicusEtnk1ENSRNOG00000014856
drosophila_melanogastereasFBGN0000536
caenorhabditis_elegansWBGENE00000515

Paralogs (3): CHKB (ENSG00000100288), CHKA (ENSG00000110721), ETNK2 (ENSG00000143845)

Protein

Protein identifiers

Ethanolamine kinase 1Q9HBU6 (reviewed: Q9HBU6)

All UniProt accessions (6): Q9HBU6, A0A5F9ZI33, A0A5K1VW28, H0YFP7, H0YH69, Q86U68

UniProt curated annotations — full annotation on UniProt →

Function. Highly specific for ethanolamine phosphorylation. May be a rate-controlling step in phosphatidylethanolamine biosynthesis.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in kidney, liver, placenta, heart, leukocyte, ovary and testis.

Pathway. Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3.

Similarity. Belongs to the choline/ethanolamine kinase family.

Isoforms (2)

UniProt IDNamesCanonical?
Q9HBU6-11yes
Q9HBU6-22

RefSeq proteins (2): NP_001034570, NP_061108* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR011009Kinase-like_dom_sfHomologous_superfamily

Pfam: PF01633

Enzyme classification (BRENDA):

  • EC 2.7.1.82 — ethanolamine kinase (BRENDA: 27 organisms, 39 substrates, 69 inhibitors, 25 Km, 3 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
ETHANOLAMINE0.008–1013
ATP0.0206–107
CHOLINE0.02–0.2753
DL-1-AMINOPROPAN-2-OL0.361

Catalyzed reactions (Rhea), 1 shown:

  • ethanolamine + ATP = phosphoethanolamine + ADP + H(+) (RHEA:13069)

UniProt features (4 total): chain 1, region of interest 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9HBU6-F184.760.70

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-1483213Synthesis of PE

MSigDB gene sets: 344 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, DOUGLAS_BMI1_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_LIPID_BIOSYNTHETIC_PROCESS, TIEN_INTESTINE_PROBIOTICS_24HR_UP

GO Biological Process (3): phosphatidylethanolamine biosynthetic process (GO:0006646), lipid metabolic process (GO:0006629), phospholipid biosynthetic process (GO:0008654)

GO Molecular Function (6): ethanolamine kinase activity (GO:0004305), ATP binding (GO:0005524), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Glycerophospholipid biosynthesis1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
phosphatidylethanolamine metabolic process1
glycerophospholipid biosynthetic process1
primary metabolic process1
phospholipid metabolic process1
lipid biosynthetic process1
organophosphate biosynthetic process1
kinase activity1
phosphotransferase activity, alcohol group as acceptor1
adenyl ribonucleotide binding1
purine ribonucleoside triphosphate binding1
nucleoside phosphate binding1
heterocyclic compound binding1
binding1
transferase activity, transferring phosphorus-containing groups1
catalytic activity1
intracellular anatomical structure1
cytoplasm1

Protein interactions and networks

STRING

1114 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ETNK1SOX5P35711859
ETNK1SELENOIQ9C0D9790
ETNK1PCYT2Q99447747
ETNK1SETBP1Q9Y6X0669
ETNK1CLPTM1LQ96KA5630
ETNK1PISDQ9UG56621
ETNK1CEPT1Q9Y6K0606
ETNK1DMRT1Q9Y5R6601
ETNK1ZRSR2Q15696592
ETNK1ASXL1Q8IXJ9583
ETNK1CSF3RQ99062576
ETNK1U2AF1Q01081570
ETNK1SRSF2Q01130570
ETNK1SOX6P35712548
ETNK1ATF7IPQ6VMQ6548

IntAct

43 interactions, top by confidence:

ABTypeScore
NASPH3C1psi-mi:“MI:0914”(association)0.910
ETNK1UBQLN1psi-mi:“MI:0915”(physical association)0.560
UBQLN1ETNK1psi-mi:“MI:0915”(physical association)0.560
ETNK1UBQLN2psi-mi:“MI:0915”(physical association)0.560
CAMLGETNK1psi-mi:“MI:0915”(physical association)0.560
SGTBETNK1psi-mi:“MI:0915”(physical association)0.560
SLC51BETNK1psi-mi:“MI:0915”(physical association)0.560
SGTAETNK1psi-mi:“MI:0915”(physical association)0.560
EVA1CUPK3BL1psi-mi:“MI:0914”(association)0.530
PNLIPLAMC1psi-mi:“MI:0914”(association)0.530
PCDHAC2TMEM223psi-mi:“MI:0914”(association)0.530
WDTC1TCP1psi-mi:“MI:0914”(association)0.530
NASPH4C16psi-mi:“MI:0914”(association)0.530
ETNK1ETNK2psi-mi:“MI:0915”(physical association)0.400
SLC18A1LIMK2psi-mi:“MI:0914”(association)0.350
LRRN2TRIM13psi-mi:“MI:0914”(association)0.350
NOCTNME6psi-mi:“MI:0914”(association)0.350
WDTC1TCP1psi-mi:“MI:0914”(association)0.350
NASPH4C16psi-mi:“MI:0914”(association)0.350
NAPRTETNK1psi-mi:“MI:0914”(association)0.350
ABCA2ABCD4psi-mi:“MI:0914”(association)0.350
GJA10FBXO42psi-mi:“MI:0914”(association)0.350
WDTC1PHGDHpsi-mi:“MI:0914”(association)0.350

BioGRID (41): ETNK1 (Two-hybrid), ETNK1 (Co-fractionation), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-MS), ETNK1 (Affinity Capture-RNA), ETNK1 (Two-hybrid), CAMLG (Two-hybrid), SLC51B (Two-hybrid), UBQLN2 (Two-hybrid)

ESM2 similar proteins: A4D126, A4IF87, A4IGD2, A4II32, E0CYC6, E0CYR6, E1BCH6, E9PYK3, E9Q5L8, F1ND48, G1SPE9, O15228, P50747, P79774, P85118, P98192, Q1HAQ0, Q1LWG4, Q3TD49, Q3TFD2, Q3U269, Q4AC99, Q4R8P0, Q5F383, Q5PQL3, Q5RCP1, Q5SZD4, Q8CHQ9, Q8K2I9, Q8NF37, Q8NFZ0, Q90678, Q96GJ1, Q96MI9, Q99487, Q9D1Z3, Q9D4H7, Q9ES71, Q9HBU6, Q9JIY6

Diamond homologs: A7MCT6, A7SK27, D3ZRW8, O54783, O55229, O81024, P54352, Q869T9, Q8L518, Q9D4V0, Q9HBU6, Q9M9H6, Q9NVF9, Q9SZ92, Q9Y259, P20485, O54804, P35790, P46558, P46559, P46560, Q01134, Q22942, P41949, Q554D8

SIGNOR signaling

2 interactions.

AEffectBMechanism
ETNK1“up-regulates quantity”O-phosphonatoethanaminium(1-)“chemical modification”
ETNK1“down-regulates quantity”ethanolaminium(1+)“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance47
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
666436GRCh37/hg19 12p12.1(chr12:22602778-25225668)x1Pathogenic

SpliceAI

1997 predictions. Top by Δscore:

VariantEffectΔscore
12:22625572:G:GTdonor_gain1.0000
12:22643745:A:AGacceptor_gain1.0000
12:22643746:A:Gacceptor_gain1.0000
12:22644018:TTCAG:Tdonor_loss1.0000
12:22644019:TCAG:Tdonor_loss1.0000
12:22644020:CAGG:Cdonor_loss1.0000
12:22644021:AGGT:Adonor_loss1.0000
12:22644022:GG:Gdonor_loss1.0000
12:22644023:G:Tdonor_loss1.0000
12:22644024:T:Gdonor_loss1.0000
12:22661052:A:AGacceptor_gain1.0000
12:22661053:A:Gacceptor_gain1.0000
12:22661060:AAGGT:Aacceptor_loss1.0000
12:22671267:C:Gacceptor_gain1.0000
12:22671268:A:AGacceptor_gain1.0000
12:22671268:ATAG:Aacceptor_gain1.0000
12:22671269:T:Gacceptor_gain1.0000
12:22671270:A:AGacceptor_gain1.0000
12:22671270:A:Cacceptor_loss1.0000
12:22671271:G:Cacceptor_loss1.0000
12:22671271:G:GGacceptor_gain1.0000
12:22671271:GGT:Gacceptor_gain1.0000
12:22671351:TGCAG:Tdonor_loss1.0000
12:22671353:CAGG:Cdonor_loss1.0000
12:22671354:AG:Adonor_loss1.0000
12:22671355:GG:Gdonor_loss1.0000
12:22671356:G:GCdonor_loss1.0000
12:22671367:G:GTdonor_gain1.0000
12:22673619:G:GTdonor_gain1.0000
12:22673658:TTGGT:Tdonor_loss1.0000

AlphaMissense

2414 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:22643776:G:AG146E1.000
12:22643782:C:TT148I1.000
12:22643784:A:GN149D1.000
12:22643785:A:TN149I1.000
12:22643786:T:AN149K1.000
12:22643786:T:GN149K1.000
12:22643791:T:AL151H1.000
12:22643791:T:CL151P1.000
12:22643830:T:AV164D1.000
12:22643833:T:CL165P1.000
12:22643839:G:CR167T1.000
12:22643840:A:CR167S1.000
12:22643840:A:TR167S1.000
12:22643848:G:AG170D1.000
12:22643848:G:TG170V1.000
12:22643943:T:CF202L1.000
12:22643945:C:AF202L1.000
12:22643945:C:GF202L1.000
12:22643952:G:AG205R1.000
12:22643952:G:CG205R1.000
12:22643953:G:AG205E1.000
12:22643953:G:TG205V1.000
12:22643958:T:CC207R1.000
12:22643959:G:AC207Y1.000
12:22643960:C:GC207W1.000
12:22643967:T:CF210L1.000
12:22643969:T:AF210L1.000
12:22643969:T:GF210L1.000
12:22643976:G:AG213R1.000
12:22643976:G:CG213R1.000

dbSNP variants (sampled 300 via entrez): RS1000029850 (12:22646580 T>C), RS1000036930 (12:22623232 C>T), RS1000042073 (12:22651941 C>T), RS1000062438 (12:22666809 A>G), RS1000145776 (12:22646840 A>C), RS1000174821 (12:22676670 A>G), RS1000233800 (12:22629104 A>G), RS1000253754 (12:22648795 C>T), RS1000256957 (12:22686865 T>C), RS1000290479 (12:22640059 C>T), RS1000305938 (12:22649139 C>A,G,T), RS1000315564 (12:22680498 C>A,T), RS1000348578 (12:22635377 C>G), RS1000398153 (12:22633691 C>G,T), RS1000424948 (12:22653677 A>C)

Disease associations

OMIM: gene MIM:609858 | disease phenotypes: MIM:616803

GenCC curated gene-disease

Mondo (2): teratoma (MONDO:0002601), Lamb-Shaffer syndrome (MONDO:0014778)

Orphanet (3): 12p12.1 microdeletion syndrome (Orphanet:313884), Developmental and speech delay due to SOX5 deficiency (Orphanet:313892), Lamb-Shaffer syndrome (Orphanet:530983)

HPO phenotypes

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

GWAS associations

6 associations (top):

StudyTraitp-value
GCST003817_10Mortality in sepsis3.000000e-06
GCST007329_11Automobile speeding propensity3.000000e-09
GCST007576_88Chronotype5.000000e-10
GCST009182_11Precuneus cortex volume8.000000e-06
GCST010002_211Refractive error9.000000e-26
GCST010244_375Triglyceride levels8.000000e-11

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0004352mortality
EFO:0008579risk-taking behaviour
EFO:0008328chronotype measurement
EFO:0004530triglyceride measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
D013724TeratomaC04.557.465.910

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Acidincreases expression, decreases expression, affects cotreatment5
methylmercuric chlorideincreases expression, affects cotreatment, decreases expression4
trichostatin Aaffects cotreatment, increases expression3
afimoxifenedecreases response to substance, increases expression2
mercuric bromideincreases expression, affects cotreatment2
entinostatincreases expression, affects cotreatment2
Vorinostataffects cotreatment, increases expression2
Panobinostataffects cotreatment, increases expression2
Phenylmercuric Acetateaffects cotreatment, increases expression2
Rotenonedecreases expression2
aristolochic acid Idecreases expression1
triphenyl phosphateaffects expression1
bisphenol Adecreases methylation1
deoxynivalenolincreases expression1
testosterone undecanoateaffects cotreatment, decreases expression1
doxifluridineincreases response to substance1
di-n-butylphosphoric acidaffects expression1
S 1 (combination)increases response to substance1
azoxystrobindecreases expression1
CGP 52608affects binding, increases reaction1
deguelindecreases expression1
monomethylarsonous acidincreases expression1
K 7174increases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
thifluzamidedecreases expression1
abrineincreases expression1
pyrachlostrobindecreases expression1
dorsomorphinaffects cotreatment, increases expression1
(+)-JQ1 compounddecreases expression1
PCI 5002affects cotreatment, increases expression1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

CellosaurusNameCategorySex
CVCL_B1RLAbcam HeLa ETNK1 KOCancer cell lineFemale

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00104676PHASE3COMPLETEDCombination Chemotherapy in Treating Patients With Stage II or Stage III Germ Cell Tumors
NCT02375204PHASE3ACTIVE_NOT_RECRUITINGStandard-Dose Combination Chemotherapy or High-Dose Combination Chemotherapy and Stem Cell Transplant in Treating Patients with Relapsed or Refractory Germ Cell Tumors
NCT00002931PHASE2COMPLETEDCombination Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Patients With Relapsed Germ Cell Cancer
NCT00301782PHASE2COMPLETEDCombination Chemotherapy in Treating Male Patients With Germ Cell Tumors
NCT00432094PHASE2COMPLETEDAutologous Peripheral Blood Stem Cell Transplant for Germ Cell Tumors
NCT00453232PHASE2COMPLETEDCombination Chemotherapy and Pegfilgrastim in Treating Men With Metastatic Germ Cell Tumors
NCT00453310PHASE2COMPLETEDSunitinib in Treating Patients With Metastatic Germ Cell Tumors That Have Relapsed or Not Responded to Treatment
NCT00470366PHASE2COMPLETEDCombination Chemotherapy and Pegfilgrastim in Treating Patients With Previously Untreated Germ Cell Tumors
NCT02300987PHASE2COMPLETEDA Randomized, Blinded, Placebo-controlled, Phase II Trial of LEE011 in Patients With Relapsed, Refractory, Incurable Teratoma With Recent Progression
NCT00003643PHASE2/PHASE3UNKNOWNCombination Chemotherapy in Treating Men With Germ Cell Cancer
NCT00423852PHASE1/PHASE2COMPLETEDPaclitaxel, Ifosfamide, and Carboplatin Followed By Autologous Stem Cell Transplant in Treating Patients With Germ Cell Tumors That Did Not Respond to Cisplatin
NCT00687778Not specifiedUNKNOWN11C-Acetate PET/CT Non-FDG-Avid Tumors
NCT00836121Not specifiedCOMPLETEDAnterior Mediastinum Teratoma: A Case Report
NCT05179850Not specifiedUNKNOWNComputer Aided Diagnostic Tool on Computed Tomography Images for Diagnosis of Retroperitoneal Tumor in Children
NCT05187923Not specifiedUNKNOWNComputer Aided Tool for Diagnosis of Neck Masses in Children
NCT05564026Not specifiedRECRUITINGMolecular Epidemiology of Pediatric Germ Cell Tumors
NCT06421805Not specifiedRECRUITINGEstablishing Prospective Mediastinal Tumor Database of PUMCH
NCT07199699Not specifiedNOT_YET_RECRUITINGSubxiphoid VATS for Giant Mediastinal Teratoma
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Lamb-Shaffer syndrome, teratoma