Send feedback

ENO2

gene
On this page

Also known as NSE

Summary

ENO2 (enolase 2, HGNC:3353) is a protein-coding gene on chromosome 12p13.31, encoding Gamma-enolase (P09104). Enolase that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate in glycolysis and the reverse reaction in gluconeogenesis.

This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates.

Source: NCBI Gene 2026 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 54 total — 1 pathogenic
  • GTEx eGene: eQTL in 26 tissues, sQTL in 3 (q < 0.05)
  • Constraint (gnomAD): pLI 0.84 (intermediate), LOEUF 0.54 (moderately constrained)
  • MANE Select transcript: NM_001975
  • Interaction hub: 3,980 STRING partners (top 1% of genes corpus-wide)
  • Notable: 54 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:3353
Approved symbolENO2
Nameenolase 2
Location12p13.31
Locus typegene with protein product
StatusApproved
AliasesNSE
Ensembl geneENSG00000111674
Ensembl biotypeprotein_coding
OMIM131360
Entrez2026

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 17 protein_coding, 5 retained_intron, 4 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000229277

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 2, TSL 3: 2, TSL 4: 2, TSL 5: 6

ENST00000229277, ENST00000441285, ENST00000534977, ENST00000535275, ENST00000535366, ENST00000536199, ENST00000537688, ENST00000537838, ENST00000538763, ENST00000539713, ENST00000541477, ENST00000542509, ENST00000543975, ENST00000545045, ENST00000879143, ENST00000879144, ENST00000879145, ENST00000934731, ENST00000934732, ENST00000967958, ENST00000967959, ENST00000967960, ENST00000967961, ENST00001077575, ENST00001077576, ENST00001077577, ENST00001143076

RefSeq mRNA: 1 — MANE Select: NM_001975 NM_001975

CCDS: CCDS8570

Canonical transcript exons

ENST00000229277 — 12 exons

ExonStartEnd
ENSE0000110285569145806914659
ENSE0000347856969220566922164
ENSE0000362841169223446922402
ENSE0000369961969166716916729
ENSE0000370016269164176916512
ENSE0000384531669227316923697
ENSE0000388906369215816921782
ENSE0000388943569175816917714
ENSE0000389044969158216915917
ENSE0000389209169195666919763
ENSE0000389469569170386917107
ENSE0000389477469179406918162

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 99.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.9387 / max 787.1093, expressed in 1696 samples.

Highest expression (Bgee): cerebellar cortex, cerebellar hemisphere, hemisphere of cerebellum, cerebellum, paraflocculus.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ENO2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 26 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 29 significant tissue × QTL associations:

TissueQTLq-valueSlopeLead variant
Cells Cultured fibroblastseqtl3.9e-39+1.2712:6923288:GTATTTATT:G
Artery Tibialeqtl2.2e-25+0.9012:6923288:GTATTTATT:G
Skin Sun Exposed Lower legeqtl1.7e-13+0.8012:6923288:GTATTTATT:G
Esophagus Mucosaeqtl6.2e-11+0.8212:6923288:GTATTTATT:G
Thyroideqtl9.0e-11+0.8812:6923288:GTATTTATT:G
Skin Not Sun Exposed Suprapubiceqtl1.1e-10+0.8212:6923288:GTATTTATT:G
Esophagus Musculariseqtl3.8e-10+1.0812:6923288:GTATTTATT:G
Adipose Subcutaneouseqtl1.4e-09+0.5412:6923288:GTATTTATT:G
Esophagus Gastroesophageal Junctioneqtl2.9e-09+1.2212:6923288:GTATTTATT:G
Colon Sigmoideqtl9.2e-08+0.9312:6923288:GTATTTATT:G
Nerve Tibialeqtl7.3e-07+0.7112:6923288:GTATTTATT:G
Whole Bloodeqtl1.2e-06+0.4712:6923288:GTATTTATT:G
Artery Aortaeqtl2.4e-06+0.5312:6923288:GTATTTATT:G
Colon Transverseeqtl4.9e-06+0.4612:6923288:GTATTTATT:G
Cells EBV-transformed lymphocyteseqtl5.1e-06+0.8012:6923288:GTATTTATT:G
Adipose Visceral Omentumeqtl2.0e-04+0.5012:6923288:GTATTTATT:G
Muscle Skeletaleqtl1.1e-03-0.1112:6919954:C:T
Spleeneqtl2.5e-03+0.4812:6334646:A:C
Brain Putamen basal gangliaeqtl3.0e-03-1.3112:6806345:CCCAGGCTG:C
Testissqtl3.1e-03-2.0212:6119168:G:C

FANTOM5 promoters

9 alternative TSS:

Promoter IDTPM avgSamples expressed
12379827.50371631
1237976.36881347
1237963.27561153
1238012.1406359
1237951.0976451
1238030.3333152
1238000.129353
1237990.058326
1237940.031513

Top tissues by expression

showing 100 of 295 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
cerebellar cortexUBERON:000212999.86gold quality
cerebellar hemisphereUBERON:000224599.86gold quality
right hemisphere of cerebellumUBERON:001489099.86gold quality
cerebellumUBERON:000203799.82gold quality
paraflocculusUBERON:000535199.74gold quality
cerebellar vermisUBERON:000472099.65gold quality
right frontal lobeUBERON:000281099.59gold quality
Brodmann (1909) area 10UBERON:001354199.59gold quality
prefrontal cortexUBERON:000045199.51gold quality
frontal poleUBERON:000279599.44gold quality
frontal cortexUBERON:000187099.42gold quality
frontal lobeUBERON:001652599.42gold quality
Brodmann (1909) area 9UBERON:001354099.40gold quality
dorsolateral prefrontal cortexUBERON:000983499.35gold quality
cortical plateUBERON:000534399.31gold quality
neocortexUBERON:000195099.29gold quality
postcentral gyrusUBERON:000258199.24gold quality
cingulate cortexUBERON:000302799.22gold quality
anterior cingulate cortexUBERON:000983599.21gold quality
parietal lobeUBERON:000187299.19gold quality
superior frontal gyrusUBERON:000266199.18gold quality
Brodmann (1909) area 46UBERON:000648399.14gold quality
nucleus accumbensUBERON:000188299.08gold quality
ponsUBERON:000098899.06gold quality
cerebral cortexUBERON:000095699.04gold quality
orbitofrontal cortexUBERON:000416799.02gold quality
middle frontal gyrusUBERON:000270298.93gold quality
caudate nucleusUBERON:000187398.92gold quality
telencephalonUBERON:000189398.91gold quality
brainUBERON:000095598.85gold quality
hypothalamusUBERON:000189898.83gold quality
central nervous systemUBERON:000101798.81gold quality
forebrainUBERON:000189098.81gold quality
putamenUBERON:000187498.74gold quality
amygdalaUBERON:000187698.72gold quality
superior vestibular nucleusUBERON:000722798.57gold quality
dorsal root ganglionUBERON:000004498.53gold quality
temporal lobeUBERON:000187198.53gold quality
ganglionic eminenceUBERON:000402398.49gold quality
adenohypophysisUBERON:000219698.47gold quality
Ammon’s hornUBERON:000195498.37gold quality
occipital lobeUBERON:000202198.26gold quality
middle temporal gyrusUBERON:000277198.21gold quality
pituitary glandUBERON:000000798.19gold quality
entorhinal cortexUBERON:000272898.18gold quality
primary visual cortexUBERON:000243698.17gold quality
lateral nuclear group of thalamusUBERON:000273698.14gold quality
C1 segment of cervical spinal cordUBERON:000646997.91gold quality
midbrainUBERON:000189197.63gold quality
substantia nigraUBERON:000203897.63gold quality
popliteal arteryUBERON:000225097.60gold quality
tibial arteryUBERON:000761097.60gold quality
spinal cordUBERON:000224097.56gold quality
medial globus pallidusUBERON:000247797.52gold quality
ventral tegmental areaUBERON:000269197.37gold quality
aortaUBERON:000094797.30gold quality
Brodmann (1909) area 23UBERON:001355497.30gold quality
mucosa of stomachUBERON:000119997.17gold quality
ascending aortaUBERON:000149697.15gold quality
medulla oblongataUBERON:000189697.10gold quality
thoracic aortaUBERON:000151597.09gold quality
ventricular zoneUBERON:000305397.02gold quality
globus pallidusUBERON:000187596.97gold quality
descending thoracic aortaUBERON:000234596.90gold quality
substantia nigra pars compactaUBERON:000196596.79gold quality
esophagogastric junction muscularis propriaUBERON:003584196.67gold quality
right coronary arteryUBERON:000162596.50gold quality
lower esophagus muscularis layerUBERON:003583396.48gold quality
lower esophagusUBERON:001347396.46gold quality
muscle layer of sigmoid colonUBERON:003580596.37gold quality
islet of LangerhansUBERON:000000696.23gold quality
endocervixUBERON:000045895.85gold quality
left coronary arteryUBERON:000162695.72gold quality
lateral globus pallidusUBERON:000247695.58gold quality
body of uterusUBERON:000985395.47gold quality
dorsal plus ventral thalamusUBERON:000189795.31gold quality
dorsal motor nucleus of vagus nerveUBERON:000287095.31gold quality
adult organismUBERON:000702395.22gold quality
substantia nigra pars reticulataUBERON:000196695.14gold quality
coronary arteryUBERON:000162195.11gold quality
right uterine tubeUBERON:000130295.07gold quality
CA1 field of hippocampusUBERON:000388194.91gold quality
ectocervixUBERON:001224994.90gold quality
trigeminal ganglionUBERON:000167594.79gold quality
endothelial cellCL:000011594.67gold quality
right lobe of thyroid glandUBERON:000111994.61gold quality
tibial nerveUBERON:000132394.55gold quality
left lobe of thyroid glandUBERON:000112094.37gold quality
inferior olivary complexUBERON:000212794.14gold quality
thyroid glandUBERON:000204693.76gold quality
right atrium auricular regionUBERON:000663193.61gold quality
inferior vagus X ganglionUBERON:000536393.36gold quality
corpus callosumUBERON:000233693.30gold quality
left uterine tubeUBERON:000130393.28gold quality
lower esophagus mucosaUBERON:003583492.93gold quality
colonic epitheliumUBERON:000039792.57gold quality
cardiac atriumUBERON:000208192.29gold quality
upper lobe of left lungUBERON:000895292.27gold quality
right lungUBERON:000216792.19gold quality
stromal cell of endometriumCL:000225592.13gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 7.

ExperimentMarker?Max mean expression
E-GEOD-84465yes2438.88
E-MTAB-7316yes45.54
E-HCAD-35yes44.51
E-GEOD-93593yes18.28
E-MTAB-5061yes17.14
E-HCAD-25yes8.87
E-ENAD-17no1382.10
E-MTAB-9154no802.98
E-ANND-3no0.00

HPA expression

RNA tissue specificity: Group enriched

showing 60 of 77 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPMProtein (IHC)
Retinatissue1573.2
Caudate putamentissue944.3
Frontal cortextissue786.6
Postcentral gyrustissue763.1
Cerebral cortextissue711.1high
Somatosensory cortextissue711.1
Motor cortextissue567.9
Occipital cortextissue562.9
Prefrontal cortextissue545.0
Thalamustissue541.8
Cerebellumtissue510.9high
Retrosplenial and cingulate cortextissue509.4
Hippocampal formationtissue505.5
Entorhinal cortextissue505.5
Temporal cortextissue499.0
Ponstissue488.6
Superior colliculitissue488.1
Locus coeruleustissue470.1
Basal gangliatissue464.4high
Putamentissue459.8
Insular cortextissue446.3
Retrosplenial cortextissue439.4
Septumtissue426.7
Ventral forebraintissue409.0
Hypothalamustissue401.6
Midbraintissue398.7
Nucleus accumbenstissue379.4
Amygdalatissue371.0
Olfactory bulbtissue310.5
Medulla oblongatatissue291.6
Hippocampustissue290.8high
Substantia nigratissue283.0
Periaqueductal graytissue266.6
Spinal cordtissue194.2
Choroid plexustissue145.0
Pituitary glandtissue121.5
Corpus callosumtissue68.7
Vaginatissue47.7not detected
Adrenal glandtissue44.1not detected
Parathyroid glandtissue41.1not detected
Smooth muscletissue32.7not detected
Seminal vesicletissue32.3not detected
Thyroid glandtissue30.7not detected
Endometrium 1tissue25.1not detected
Thymustissue24.9
Lymph nodetissue24.6not detected
Heart muscletissue23.5not detected
Tonsiltissue22.9not detected
Lungtissue21.9not detected
Fallopian tubetissue19.2not detected
Appendixtissue18.8not detected
Gallbladdertissue16.8not detected
Prostatetissue15.9not detected
Rectumtissue14.6low
Cervixtissue14.5not detected
Colontissue14.2low
Stomach 1tissue13.1not detected
Urinary bladdertissue13.1not detected
Spleentissue12.5not detected
Small intestinetissue12.5not detected

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Precentral gyrus (691.3), Precentral gyrus, middle (681.1), Postcentral gyrus, middle (624.6), Olfactory area (615.7), Paracentral lobule, anterior (603.1).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, ENO1, HIF1A, NOTO, STAT3

miRNA regulators (miRDB)

Targeting ENO2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 55 miRNAs:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4283100.0066.422097
HSA-MIR-5692A100.0074.406850
HSA-MIR-8485100.0077.574731
HSA-MIR-4673100.0066.641490
HSA-MIR-3163100.0077.238605
HSA-MIR-607799.9968.042299
HSA-MIR-4645-5P99.9865.811284
HSA-MIR-211099.9666.681930
HSA-MIR-7-1-3P99.9171.534384
HSA-MIR-7-2-3P99.9171.404394
HSA-MIR-1211999.8768.351653
HSA-MIR-6857-5P99.8765.32985
HSA-MIR-394199.8670.542735
HSA-MIR-6842-5P99.8067.541587
HSA-MIR-7110-5P99.8067.841712
HSA-MIR-3150A-3P99.7664.441640
HSA-MIR-6763-5P99.7664.681767
HSA-MIR-4524A-3P99.7266.852406
HSA-MIR-6892-3P99.6866.401178
HSA-MIR-7-5P99.6770.531809
HSA-MIR-317599.6566.302031
HSA-MIR-6752-5P99.5967.321243
HSA-MIR-451B99.5568.281380
HSA-MIR-3120-3P99.5470.282669
HSA-MIR-317199.4969.06776
HSA-MIR-431899.3866.941505
HSA-MIR-6731-5P99.2867.422375
HSA-MIR-808599.2867.562362
HSA-MIR-580-5P99.2870.941776
HSA-MIR-892C-5P99.1670.562116

Functional genomics

gnomAD constraint: pLI 0.842, LOEUF 0.542, missense Z 2.53 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000229277 — one region, missense o/e 0.75.

Literature-anchored findings (GeneRIF, showing 40)

  • Serum level of enolase 2 heavily influences survival in neuroblastoma in children. (PMID:11881792)
  • expressed in the placenta and umbilical cord (PMID:11919335)
  • Serum time course of two brain-specific proteins, alpha(1) brain globulin and neuron-specific enolase, in tick-born encephalitis and Lyme disease. (PMID:11983209)
  • neuron-specific enolase (NSE) may have a role in development of pyothorax-associated lymphoma (PAL) (PMID:11985791)
  • the frequency of a high NSE serum value in acute and lymphoma type adult T-cell leukemia (ATL) suggests that ATL cells preferentially produce NSE compared with other NHL cells (PMID:12353304)
  • Patients with viral meningitis showed high concentrations of inosine, guanosine, xanthine, urate and neuron-specific enolase. (PMID:12581805)
  • Increased level of neuron-specific enolase is associated with small-cell lung cancer and non-small cell lung cancer patients (PMID:12636057)
  • Decreasing levels of serum NSE but not S-100B over time may indicate selective attenuation of delayed neuronal death by therapeutic hypothermia in victims of cardiac arrest (PMID:14631087)
  • enzyme has been purified, crystallized and its crystal structure determined. (PMID:15289101)
  • NSE increases to similar degrees with and without traumatic brain injury (PMID:16044081)
  • The crystal structure of the human neuronal enolase-Mg2F2P(i) complex determined at 1.36 A resolution shows that the combination of anions effectively mimics an intermediate state in catalysis (PMID:16411755)
  • Serum neuron-specific enolase (NSE) measurement has prognostic value in predicting outcomes in patients recovering from cardiopulmonary resuscitation following in-hospital cardiac arrest. (PMID:16978415)
  • MS patients had a greater prevalence of positive T-cell proliferative responses to neuron-specific enolase [NSE], retinal arrestin, and beta-arrestin than healthy controls (p<0.0001). (PMID:17436063)
  • There is complementarity in the combined detection of the level of TPS, NSE, CEA and beta(2)-MG. Their levels have close correlation with lung cancer, histological grades and lymphoid nodule metastasis. (PMID:17618570)
  • Neuron-specific enolase is a relevant marker in investigation of the patients with neurofibromatosis type 1 and associated tumors (PMID:18063947)
  • Serum samples were investigated for carcinoembryonic antigen (CEA), CA125 and MUC1, alpha-foetoprotein, neuron-specific enolase and CA19.9. (PMID:18609108)
  • serum levels of neuron-specific enolase were decreased slightly during and after migraine bouts. (PMID:18783450)
  • Levels of plasma S-100 beta and NSE cannot predict encephalopathy after orthotopic liver transplantation. (PMID:19220958)
  • Early upregulation of neuron-specific enolase in children with head injury, correlates significantly with the severity of the head injury. (PMID:19221293)
  • There are no differences in S100B and NSE levels between patients with ischemic stroke or intracerebral hemorrhage. (PMID:19221847)
  • The timing, intensity, and duration of serum NSE and S-100B biomarker concentration patterns are associated with neurologic and survival outcomes following pediatric cardiac arrest. (PMID:19307814)
  • This protein has been found differentially expressed in the Wernicke’s Area from patients with schizophrenia. (PMID:19405953)
  • Data demonstrated the increasing expression of NSE and the decreasing expression of nestin, which revealed that hMSCs had neuronal characteristics. (PMID:19445653)
  • Jugular venous neurone specific enolase (NSE) increases following carotid endarterectomy under general, but not local, anaesthesia. (PMID:19540138)
  • serum levels of S100B may be a marker for brain functional condition and serum NSE levels may be a marker for morphological status in Alzheimer’s disease (PMID:20105309)
  • This enzyme, synthesized by neurons and neuroendocrine cells, is a marker useful for the diagnosis and the monitoring of patients with neuroendocrine tumors. (PMID:20348052)
  • This protein has been found differentially expressed in the anterior cingulate cortex in women patients with schizophrenia. (PMID:20381070)
  • the concentration of neurospecific enolase was changed depending on the character of perinatal injury of central nervous system. (PMID:20495226)
  • The serum level of NSE at relapse is a useful predictive marker for CR to salvage chemotherapy. (PMID:20537424)
  • Study of development of secondary injuries following traumatic brain injury includes measurement of release of neuron-specific enolase (NSE) and S100B into the cerebrospinal fluid and blood. (PMID:20686797)
  • In nonproliferative diabetic retinopathy, the concentration of NSE showed an 18-fold increase in the tear fluid and the content of its autoantibodies remained unchanged. (PMID:20873151)
  • Autoantibodies targeting NSE were not observed in any healthy control subjects or patients with inflammatory eye disease. However, anti-NSE activity was found in 1 child with molecularly confirmed Leber congenital amaurosis. (PMID:21149784)
  • Studies of pancreatic tissue specimens from adult patients with type 1 diabetes mellitus showed no immunopositive reaction to neuron-specific enolase in insulin-negative specimens (PMID:21165441)
  • The findings of increased ictal serum S100B and NSE levels together with increased interictal levels of S100B suggested that migraine might be associated with glial and/or neuronal damage in the brain. (PMID:21293918)
  • Brain-specific gamma1-syntrophin participates in gamma-enolase translocation towards the plasma membrane, a pre-requisite for its neurotrophic activity. (PMID:21358174)
  • The relationship of clinical outcome with cerebrospinal fluid neuron-specific enolase (NSE), S100B and glial fibrillary acidic protein (GFAP) levels in patients with severe traumatic brain injury was investigated (PMID:21368691)
  • The increased level of serum S100beta and NSE may be one of the mechanisms of brain damage and memory impairment in obstructive sleep apnea-hypopnea syndrome. (PMID:21553520)
  • Neuron-specific enolase levels were not significantly different in off-pump coronary artery bypass patients with/without intracranial and cervical artery stenosis. (PMID:21587126)
  • NSE correlates well with other markers of ischemic brain injury. (PMID:21775743)
  • Serum NSE may be a novel marker of disease aggressiveness as well as a prognostic factor for DLBCL in the era of rituximab. (PMID:21815777)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_rerioeno2ENSDARG00000014287
mus_musculusEno2ENSMUSG00000004267
rattus_norvegicusEno2ENSRNOG00000013141
drosophila_melanogasterEnoFBGN0000579
caenorhabditis_elegansWBGENE00011884

Paralogs (3): ENO1 (ENSG00000074800), ENO3 (ENSG00000108515), ENO4 (ENSG00000188316)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:95394) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 1 distinct phenotype terms.

Mouse phenotype (MP)Records
prolonged QRS complex duration1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

OrganismUniProtIdentityMethod
Saccharomyces cerevisiae S288CP0CX10100.0%Diamond
Alligator mississippiensisP42897100.0%Diamond
Populus euphraticaP84541100.0%Diamond
Plasmodium falciparum 3D7Q8IJN7100.0%Diamond
Plasmodium falciparum NF54W7JLR6100.0%Diamond
Plasmodium falciparumQ2772799.8%Diamond
Pongo abeliiQ5R6Y199.8%Diamond
Plasmodium falciparum FCR-3/GambiaQ9UAL599.8%Diamond
Macaca fascicularisQ4R5L299.5%Diamond
Oryctolagus cuniculusP2570498.8%Diamond
Bos taurusQ3ZC0998.8%Diamond
Sus scrofaQ1KYT098.4%Diamond
Plasmodium berghei ANKAA0A509AQ6897.5%Diamond
Plasmodium yoelii yoeliiQ7RA6097.5%Diamond
Hevea brasiliensisQ9LEI997.5%Diamond
Anas platyrhynchosP1914097.2%Diamond
Gallus gallusP5191397.2%Diamond
Zea maysP4289595.7%Diamond
Oryza sativa Japonica GroupQ4297195.7%Diamond
Ricinus communisP4289695.1%Diamond
Trachemys scripta elegansQ9W7L194.7%Diamond
Aspergillus fumigatus Af293Q96X3094.3%Diamond
Penicillium citrinumQ96X4694.3%Diamond
Python regiusQ9W7L094.0%Diamond
Sceloporus undulatusQ9W7L294.0%Diamond
Aspergillus oryzae RIB40Q1256093.8%Diamond
Aspergillus nidulans FGSC A4Q5B13593.8%Diamond
Penicillium chrysogenumQ76KF993.8%Diamond
Nakaseomyces glabratus CBS 138Q6FQY493.1%Diamond
Xenopus laevisP0873491.2%Diamond
Arabidopsis thalianaP2569690.1%Diamond
Solanum lycopersicumP2630090.1%Diamond
Cladosporium herbarumP4204089.8%Diamond
Alternaria alternataQ9HDT389.8%Diamond
Cryphonectria parasiticaQ6RG0489.5%Diamond
Neurospora crassa OR74AQ7RV8589.5%Diamond
Mesembryanthemum crystallinumQ4313089.2%Diamond
Kluyveromyces lactis NRRL Y-1140Q70CP789.2%Diamond
Eremothecium gossypii ATCC 10895Q756H289.2%Diamond
Thunnus albacaresI0J1J189.1%Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

SymbolTypeEntrez
C12orf57protein-coding113246
ATN1protein-coding1822
PTPN6protein-coding5777
LRRC23protein-coding10233
TPI1protein-coding7167
USP5protein-coding8078
SPSB2protein-coding84727
RNU7-1snRNA100147744

Protein

Protein identifiers

Gamma-enolase — P09104 (reviewed: P09104)

Alternative names: 2-phospho-D-glycerate hydro-lyase, Enolase 2, Neural enolase, Neuron-specific enolase

All UniProt accessions (6): F5H0C8, F5H1C3, P09104, Q6FHV6, U3KQP4, U3KQQ1

UniProt curated annotations — full annotation on UniProt →

Function. Enolase that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate in glycolysis and the reverse reaction in gluconeogenesis. Has neurotrophic and neuroprotective properties on a broad spectrum of central nervous system (CNS) neurons. Binds, in a calcium-dependent manner, to cultured neocortical neurons and promotes cell survival.

Subunit / interactions. Mammalian enolase is composed of 3 isozyme subunits, alpha, beta and gamma, which can form homodimers or heterodimers which are cell-type and development-specific.

Subcellular location. Cytoplasm. Cell membrane.

Tissue specificity. The alpha/alpha homodimer is expressed in embryo and in most adult tissues. The alpha/beta heterodimer and the beta/beta homodimer are found in striated muscle, and the alpha/gamma heterodimer and the gamma/gamma homodimer in neurons.

Cofactor. Mg(2+) is required for catalysis and for stabilizing the dimer.

Induction. Levels of ENO2 increase dramatically in cardiovascular accidents, cerebral trauma, brain tumors and Creutzfeldt-Jakob disease. (Microbial infection) Activated by human cytomegalovirus (HCMV) UL38 in order to provide the virus with glycosyl building blocks.

Pathway. Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 4/5.

Similarity. Belongs to the enolase family.

Isoforms (2)

UniProt IDNamesCanonical?
P09104-11yes
P09104-22

RefSeq proteins (1): NP_001966* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000941EnolaseFamily
IPR020809Enolase_CSConserved_site
IPR020810Enolase_CDomain
IPR020811Enolase_NDomain
IPR029017Enolase-like_NHomologous_superfamily
IPR036849Enolase-like_C_sfHomologous_superfamily

Pfam: PF00113, PF03952

Enzyme classification (BRENDA)

  • EC 4.2.1.11 — phosphopyruvate hydratase (BRENDA: 121 organisms, 78 substrates, 91 inhibitors, 111 Km, 13 kcat entries)

Substrate kinetics (BRENDA)

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

SubstrateKm (mM)Measurements
2-PHOSPHO-D-GLYCERATE0.025–6.05370
PHOSPHOENOLPYRUVATE0.07–4331
(25R)-3BETA-HYDROXYCHOLEST-5-EN-27-OATE0.041–0.252
3-PHOSPHO-D-GLYCERATE0.39–1.2812

Catalyzed reactions (Rhea)

  • (2R)-2-phosphoglycerate = phosphoenolpyruvate + H2O (RHEA:10164)

UniProt features (93 total): modified residue 24, helix 23, strand 16, binding site 13, turn 5, sequence conflict 4, active site 2, sequence variant 2, initiator methionine 1, chain 1, cross-link 1, splice variant 1

Structure

Experimental structures (PDB)

16 structures by resolution:

PDBTitleMethodResolution (Å)
2AKZFluoride Inhibition of Enolase: Crystal Structure of the Inhibitory ComplexX-RAY DIFFRACTION1.36
3UJRAsymmetric complex of human neuron specific enolase-5-PGA/PEPX-RAY DIFFRACTION1.4
3UCDAsymmetric complex of human neuron specific enolase-2-PGA/PEPX-RAY DIFFRACTION1.41
3UCCAsymmetric complex of human neuron specific enolase-1-PGA/PEPX-RAY DIFFRACTION1.5
3UJEAsymmetric complex of human neuron specific enolase-3-PGA/PEPX-RAY DIFFRACTION1.55
3UJSAsymmetric complex of human neuron specific enolase-6-PGA/PEPX-RAY DIFFRACTION1.65
1TE6Crystal Structure of Human Neuron Specific Enolase at 1.8 angstromX-RAY DIFFRACTION1.8
2AKMFluoride Inhibition of Enolase: Crystal Structure of the Inhibitory ComplexX-RAY DIFFRACTION1.92
4ZCWStructure of Human Enolase 2 in complex with SF2312X-RAY DIFFRACTION1.99
5EU9Structure of Human Enolase 2 in complex with …X-RAY DIFFRACTION2.05
3UJFAsymmetric complex of human neuron specific enolase-4-PGA/PEPX-RAY DIFFRACTION2.1
7MBHStructure of Human Enolase 2 in complex with phosphoserineX-RAY DIFFRACTION2.1
4ZA0Structure of Human Enolase 2 in complex with PhosphonoacetohydroxamateX-RAY DIFFRACTION2.31
5TD9Structure of Human Enolase 2X-RAY DIFFRACTION2.32
5IDZStructure of Human Enolase 2 in complex with …X-RAY DIFFRACTION2.63
5TIJStructure of Human Enolase 2 with …X-RAY DIFFRACTION2.63

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P09104-F197.140.97

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Lyases, Metabolic proteins, Predicted intracellular proteins, Plasma proteins, Cancer-related genes, Candidate cancer biomarkers, Candidate cardiovascular disease genes

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol; plasma membrane

Antibody reliability (HPA): IH enhanced · IF enhanced

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 (2)

PositionRole
210proton donor
343proton acceptor

Ligand- & substrate-binding residues (13)

PositionRole
293Mg(2+)
293substrate
318Mg(2+)
318substrate
370–373substrate
394substrate
40Mg(2+)
158substrate
167substrate
245Mg(2+)

Post-translational modifications (25)

TypePositions
N-acetylserine2
N6-acetyllysine5, 60, 64, 89, 193, 197, 199, 202, 228, 233, 256, 335, 343, 406
Phosphothreonine26
Phosphotyrosine44, 287
N6-succinyllysine60, 89, 228
N6-(2-hydroxyisobutyryl)lysine233
Phosphoserine263, 291
Glycyl lysine isopeptide (lys-gly) (interchain with g-cter in sumo2)202

Function

Pathways and Gene Ontology

Reactome pathways

2 curated (TAS) of 5; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

5 pathways:

IDPathwayEvidence
R-HSA-70263Gluconeogenesiscurated
R-HSA-70171Glycolysiscurated
R-HSA-70326Glucose metabolism—
R-HSA-1430728Metabolism—
R-HSA-71387Metabolism of carbohydrates and carbohydrate derivatives—

MSigDB gene sets: 345 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, MODY_HIPPOCAMPUS_POSTNATAL, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_RESPONSE_TO_ESTRADIOL, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MENSE_HYPOXIA_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOCC_CELL_SURFACE, GOBP_MONOSACCHARIDE_CATABOLIC_PROCESS, MITSIADES_RESPONSE_TO_APLIDIN_DN

GO Biological Process (5): gluconeogenesis (GO:0006094), glycolytic process (GO:0006096), response to xenobiotic stimulus (GO:0009410), response to estradiol (GO:0032355), canonical glycolysis (GO:0061621)

GO Molecular Function (8): magnesium ion binding (GO:0000287), phosphopyruvate hydratase activity (GO:0004634), enzyme binding (GO:0019899), identical protein binding (GO:0042802), protein-containing complex binding (GO:0044877), protein binding (GO:0005515), lyase activity (GO:0016829), metal ion binding (GO:0046872)

GO Cellular Component (14): phosphopyruvate hydratase complex (GO:0000015), photoreceptor inner segment (GO:0001917), cytosol (GO:0005829), plasma membrane (GO:0005886), cell cortex (GO:0005938), cell surface (GO:0009986), membrane (GO:0016020), growth cone (GO:0030426), perikaryon (GO:0043204), membrane raft (GO:0045121), extracellular exosome (GO:0070062), synaptic membrane (GO:0097060), cytoplasm (GO:0005737), neuronal cell body (GO:0043025)

Reactome top-level categories

3 top-level categories:

CategoryPathways
Glucose metabolism2
Metabolism of carbohydrates and carbohydrate derivatives1
Metabolism1

GO top-level categories

44 GO namespaces:

CategoryTerms
cellular anatomical structure6
protein binding2
binding2
cytoplasm2
cell periphery2
glucose metabolic process1
hexose biosynthetic process1
phosphoglycerate kinase activity1
phosphoglycerate mutase activity1
phosphopyruvate hydratase activity1
pyruvate kinase activity1
pyruvate metabolic process1
generation of precursor metabolites and energy1
aerobic respiration1
carbohydrate catabolic process1
pyridine nucleotide catabolic process1
glyceraldehyde-3-phosphate dehydrogenase (phosphorylating, [NAD(P)+] ) activity1
ADP catabolic process1
ATP metabolic process1
nicotinamide nucleotide metabolic process1
response to chemical1
response to lipid1
response to oxygen-containing compound1
glucokinase activity1
glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity1
glucose catabolic process1
glycolytic process through glucose-6-phosphate1
metal ion binding1
hydro-lyase activity1
catalytic activity1
cation binding1
cytosol1
catalytic complex1
membrane1
site of polarized growth1
distal axon1
neuronal cell body1
membrane microdomain1
extracellular vesicle1
synapse1
plasma membrane region1
intracellular anatomical structure1
somatodendritic compartment1
cell body1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 4 of 28 annotations. The rest are phylogenetic / computational / electronic (IEA).

4 experimentally-supported GO terms:

GO termNSEvidence
cytosolCCdirect assay
extracellular exosomeCChigh-throughput assay
membraneCCdirect assay
plasma membraneCCdirect assay

Protein interactions and networks

STRING

showing 15 of 3,980 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
ENO2CHGAP10645937
ENO2SYPP08247883
ENO2S100BP04271881
ENO2CEACAM5P06731880
ENO2UCHL1P09936801
ENO2GRPP07491798
ENO2CD99P14209777
ENO2NCAM1P13591759
ENO2CD99L2Q8TCZ2752
ENO2KRT19P08727751
ENO2GFAPP14136719
ENO2KRT20P35900716
ENO2AFPP02771716
ENO2KRT7P08729715
ENO2NEFLP07196715

IntAct

Human interaction partners of ENO2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

23 partners by confidence:

PartnerInteraction typeMIscoreRecords
ENO1association0.7105
TINF2physical association0.5102
ACDphysical association0.3701
AKT1physical association0.3701
POT1physical association0.3701
TERF1physical association0.3701
ANXA11physical association0.0001
BMERB1physical association0.0001
C6orf47physical association0.0001
ENSAphysical association0.0001
HABP4physical association0.0001
HK1physical association0.0001
HSF1physical association0.0001
IL17Bphysical association0.0001
MAP4physical association0.0001
MTNR1Aphysical association0.0001
NAT9physical association0.0001
NDUFS7physical association0.0001
SIGIRRphysical association0.0001
SNUPNphysical association0.0001
ST3GAL2physical association0.0001
TUBA4Aphysical association0.0001
UBE2Cphysical association0.0001

BioGRID (193 interactions; top human partners by supporting records): ENO1 (Affinity Capture-MS; 14 records), ENO3 (Affinity Capture-MS; 7 records), AKT1 (Two-hybrid; 2 records), ARHGDIA (Co-fractionation; 2 records), CAND1 (Affinity Capture-MS; 2 records), EZR (Co-fractionation; 2 records), FSCN1 (Affinity Capture-MS; 2 records), MAPT (Proximity Label-MS; 2 records), A2M (Two-hybrid), AADAT (Co-fractionation), ACD (Two-hybrid), ACOX1 (Co-fractionation), AGO2 (Affinity Capture-RNA), AHCY (Affinity Capture-MS), AKR1B1 (Co-fractionation)

SIGNOR signaling

2 signaling interactions:

AEffectBMechanism
ENO2“up-regulates quantity”phosphonatoenolpyruvate“chemical modification”
ENO2“down-regulates quantity”2-phosphonato-D-glycerate(3-)“chemical modification”

Disease & clinical

Genetic variants

Variant evidence for ENO2: 54 ClinVar records (1 pathogenic / likely pathogenic). Per-variant detail is on Sugi Variant.

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance40
Likely benign2
Benign1

Top pathogenic / likely-pathogenic (1)

Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant IDHGVSClassificationReviewSubmitters
2445417GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4Pathogenicno assertion criteria provided1

Per-variant reference — Sugi Variant

Explore ENO2’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 21 predictions of 988):

Position(s)EffectΔscoreSites
12:6915812–6915814acceptor_gain1.00002
12:6915817acceptor_gain1.0000
12:6915918–6915919donor_loss1.00003
12:6916415–6916416acceptor_loss1.00005
12:6916513donor_loss1.0000
12:6916726donor_gain1.0000
12:6916804donor_gain1.0000
12:6917930acceptor_gain1.0000
12:6917938–6917939acceptor_loss1.00005
12:6918098donor_gain1.0000

AlphaMissense

1,656 missense substitutions predicted likely pathogenic (of 2,831 scored), across 350 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
M16990.9270.992
M36890.8820.992
H15880.9991.000
D24580.9991.000
D31880.9991.000
D31980.9981.000
D29480.9970.999
D1380.9960.999
H37180.9960.999
D20980.9950.999
S37080.9941.000
D9180.9920.998
D37880.9840.998
N34580.9770.999
D38380.9760.997
D9880.9750.994
F21380.9730.999
S3780.9700.999
D5180.9600.991
N15480.9561.000

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

4 prognostic cancer types:

CancerPrognosticp-value
Kidney Renal Clear Cell Carcinoma (TCGA)unfavorable0.00062
Pancreatic Adenocarcinoma (validation)unfavorable0.000628
Bladder Urothelial Carcinoma (TCGA)favorable0.00065
Glioblastoma Multiforme (TCGA)unfavorable0.000952

Disease associations

OMIM: gene MIM:131360 | disease phenotypes:

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

2 measured of 2 human assays (2 total across all organisms); most potent 2 below. Values come from heterogeneous assays and are not directly comparable.

LigandMeasureValue
SF2312IC5037.9 nM
phosphonoacetohydroxamate (PhAH)IC5051 nM

PubChem BioAssay actives

2 with measured affinity, of 2 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
[(3S,5S)-1,5-dihydroxy-2-oxopyrrolidin-3-yl]phosphonic acid1802194: Enolase Enzymatic Assays from Article 10.1038/nchembio.2195: “SF2312 is a natural phosphonate inhibitor of enolase.”ic500.0425uM
[2-(hydroxyamino)-2-oxoethyl]phosphonic acid1802194: Enolase Enzymatic Assays from Article 10.1038/nchembio.2195: “SF2312 is a natural phosphonate inhibitor of enolase.”ic500.0623uM

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, decreases expression, affects expression, increases expression7
Oxygendecreases reaction, increases expression5
trichostatin Aaffects cotreatment, decreases expression, affects expression4
cobaltous chlorideincreases expression, decreases reaction4
Cisplatinaffects expression, increases expression4
bisphenol Adecreases expression, increases expression3
bisphenol Saffects cotreatment, decreases expression, increases expression3
Benzo(a)pyreneincreases expression, increases methylation3
Cyclosporinedecreases expression, increases expression3
Cadmium Chlorideincreases expression3
sodium arsenitedecreases expression, increases expression, affects cotreatment2
nickel chlorideincreases expression2
deguelindecreases expression, decreases secretion2
Decitabineaffects expression, affects cotreatment2
Vorinostataffects cotreatment, affects expression, decreases expression2
Ethanoldecreases expression2
Cocaineincreases expression, decreases expression2
Doxorubicinaffects expression, decreases expression2
Phenylmercuric Acetateaffects cotreatment, decreases expression2
Silicon Dioxideincreases expression2
Tobacco Smoke Pollutionincreases expression2
1-Methyl-3-isobutylxanthineaffects cotreatment, increases expression2
Particulate Matterincreases abundance, increases expression, decreases expression2
aristolochic acid Idecreases expression, increases expression1
abemaciclibincreases expression1
1-cyclopropyl-4-(4-((5-methyl-3-(3-(4-(trifluoromethoxy)phenyl)-1,2,4-oxadiazol-5-yl)-1H-pyrazol-1-yl)methyl)pyridin-2-yl)piperazinedecreases reaction, increases expression1
GSK-J4increases expression1
sotorasibaffects cotreatment, decreases expression1
aminomethylphosphonic acid (AMPA)increases expression1
tungsten carbideaffects binding, increases expression1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

CellosaurusNameCategorySex
CVCL_E1G6Abcam Jurkat ENO2 KOCancer cell lineMale

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

51 trials:

NCTPhaseStatusTitle
NCT02562170Phase 4COMPLETEDProtexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study
NCT00673335Phase 3COMPLETEDLetrozole in Preventing Breast Cancer in Postmenopausal Women With a BRCA1 or BRCA2 Mutation
NCT00685256Phase 3COMPLETEDStandard Genetic Counseling With or Without a Decision Guide in Improving Communication Between Mothers Undergoing BRCA1/2 Testing and Their Minor-Age Children
NCT03162276Phase 3UNKNOWNTrial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
NCT00253539Phase 2COMPLETEDArzoxifene or Tamoxifen in Preventing Breast Cancer in Premenopausal Women at High Risk for Breast Cancer
NCT00305695Phase 2COMPLETEDZoledronate or Observation in Maintaining Bone Mineral Density in Patients Who Are Undergoing Surgery to Remove Both Ovaries
NCT00321633Phase 2COMPLETEDCarboplatin or Docetaxel in Treating Women With Metastatic Genetic Breast Cancer
NCT01333748Phase 2COMPLETEDSearch Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer
NCT01367639Phase 2COMPLETEDTrial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
NCT00535119Phase 1COMPLETEDVeliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid Cancer
NCT00892736Phase 1COMPLETEDVeliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous Therapy
NCT03832985Early Phase 1COMPLETEDPediatric Reporting of Adult-Onset Genomic Results
NCT00005095Not specifiedRECRUITINGSpecimen and Data Study for Ovarian Cancer Early Detection and Prevention
NCT00609505Not specifiedCOMPLETEDTelemedicine vs. Face-to-Face Cancer Genetic Counseling
NCT01273909Not specifiedUNKNOWNOutcomes After Perforator Flap Reconstruction for Breast Reconstruction and/or Lymphedema Treatment
NCT01445275Not specifiedWITHDRAWNCost of Cancer Risk Management in Women at Elevated Genetic Risk for Ovarian Cancer Who Participated on GOG-0199
NCT01608074Not specifiedACTIVE_NOT_RECRUITINGRadical Fimbriectomy for Young BRCA Mutation Carriers
NCT02087592Not specifiedCOMPLETEDFeasibility of Lifestyle Intervention in BRCA1/2 Mutation Carriers
NCT02302742Not specifiedRECRUITINGTriple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry
NCT02324062Not specifiedCOMPLETEDCancer Genetics Hereditary Cancer Panel Testing
NCT02516540Not specifiedUNKNOWNEfficacy of Lifestyle Intervention in BRCA1/2 Mutation Carriers
NCT02653105Not specifiedACTIVE_NOT_RECRUITINGWomen at Risk of Breast Cancer and OLFM4
NCT02705924Not specifiedTERMINATEDImpact of a Psychoeducational Intervention on Expectations and Coping in Young Women Exposed to a High HBOC Risk
NCT02760849Not specifiedACTIVE_NOT_RECRUITINGSurgery in Preventing Ovarian Cancer in Patients With Genetic Mutations
NCT02786147Not specifiedCOMPLETEDIdentification and Referral of Women at Risk for Hereditary Breast/Ovarian Cancer
NCT02956681Not specifiedCOMPLETEDStatewide Communication to Reach Diverse Low Income Women
NCT03015376Not specifiedUNKNOWNInherited Susceptible Genes Among Epithelial Ovarian Cancer
NCT03050268Not specifiedRECRUITINGFamilial Investigations of Childhood Cancer Predisposition
NCT03075540Not specifiedCOMPLETEDEnhancing At-risk Latina Women’s Use of Genetic Counseling for Hereditary Breast and Ovarian Cancer
NCT03124212Not specifiedRECRUITINGCascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland
NCT03246841Not specifiedACTIVE_NOT_RECRUITINGInvestigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes.
NCT03294343Not specifiedUNKNOWNRisk-Reducing Surgeries for Hereditary Ovarian Cancer
NCT03421327Not specifiedCOMPLETEDGenetic Risk: Whether, When, and How to Tell Adolescents
NCT03510689Not specifiedCOMPLETEDGenetics and Heart Health After Cancer Therapy
NCT03511690Not specifiedCOMPLETEDTesting an Intelligent Tutoring System to Enhance Genetic Risk Assessment
NCT03784859Not specifiedCOMPLETEDTissue Expansion in Breast Reconstruction Without Drains
NCT03979612Not specifiedUNKNOWNEvaluation of the Adhesion to the GENEPY Network
NCT04197856Not specifiedUNKNOWNDirect Information to At-risk Relatives
NCT04407611Not specifiedCOMPLETEDScalable Communication Modalities for Returning Genetic Research Results
NCT04508764Not specifiedTERMINATEDImplementation of the Families Accelerating Cascade Testing Toolkit (FACTT) for Hereditary Breast and Ovarian Cancer and Lynch Syndrome
NCT04544501Not specifiedCOMPLETEDEnhance the Use of Genetic Counseling and Testing in Latinas
NCT04668521Not specifiedTERMINATEDMultifactorial Risk Assessment for Breast & Ovarian Cancer Risk Detection
NCT05130606Not specifiedRECRUITINGCONTIGO - A Narrative Intervention to Enhance Genetic Counseling and Testing
NCT05306002Not specifiedCOMPLETEDNutritional Intervention and DNA Damage of Patients With HBOC
NCT05409222Not specifiedUNKNOWNStudy of Quality of Life Post Salpingo-oophorectomy in BRCA1/2 & PALB2 Mutation Carriers (BRCA-HRT)
NCT05677048Not specifiedACTIVE_NOT_RECRUITINGFeasibility Study: IGNITE-TX (Identifying Individuals for Genetic Testing & Treatment) Intervention
NCT05721326Not specifiedCOMPLETEDSequential EHR Based Interventions to Increase Genetic Testing for Breast and Ovarian Cancer Predisposition
NCT06892275Not specifiedRECRUITINGThe FYI on MRI: A Multilevel Decision Support Intervention for Screening Breast MRI
NCT06914726Not specifiedENROLLING_BY_INVITATIONPatient Centered Clinical Decision Support for Hereditary Cancer Syndromes
NCT07039552Not specifiedRECRUITINGDevelopment and Validation of an Ovarian Cancer Risk Prediction Model for Family Members of Ovarian Cancer Probands
NCT07236359Not specifiedNOT_YET_RECRUITINGEvaluation of Well Being and Patient Reported Outcomes After Robotic Single-port Nipple Sparing Mastectomy and Implant Reconstruction
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): tetrasomy 12p