DGIdb - VHL Gene Record

VHL 7428 Clinically ActionableDrug Resistance

Alternate Names:

7428
VON HIPPEL-LINDAU TUMOR SUPPRESSOR
VHL
HRCA1
RCA1
VHL1
pVHL
608537
12687
ENSG00000134086
OTTHUMG00000128668
58
von Hippel-Lindau disease tumor suppressor
T80423
P40337

Gene Info:

Gene Biotype	PROTEIN_CODING

(6 More Sources)

Gene Categories: Category Details

DRUG RESISTANCE
CLINICALLY ACTIONABLE
TRANSCRIPTION FACTOR

Publications:

Powles et al., 2016, Randomized Open-Label Phase II Trial of Apitolisib (GDC-0980), a Novel Inhibitor of the PI3K/Mammalian Target of Rapamycin Pathway, Versus Everolimus in Patients With Metastatic Renal Cell Carcinoma., J. Clin. Oncol.
Okazaki et al., 2017, Glutaminase and poly(ADP-ribose) polymerase inhibitors suppress pyrimidine synthesis and VHL-deficient renal cancers., J. Clin. Invest.
Powles et al., 2016, A randomized, double-blind phase II study evaluating cediranib versus cediranib and saracatinib in patients with relapsed metastatic clear-cell renal cancer (COSAK)., Ann. Oncol.
Rini et al., 2006, Clinical response to therapy targeted at vascular endothelial growth factor in metastatic renal cell carcinoma: impact of patient characteristics and Von Hippel-Lindau gene status., BJU Int.
Yamasaki et al., 2012, Tumor microvasculature with endothelial fenestrations in VHL null clear cell renal cell carcinomas as a potent target of anti-angiogenic therapy., Cancer Sci.
Bridgeman et al., 2016, Preclinical Evidence That Trametinib Enhances the Response to Antiangiogenic Tyrosine Kinase Inhibitors in Renal Cell Carcinoma., Mol. Cancer Ther.
Jonasch et al., 2011, Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease., Ann. Oncol.
Genbacev et al., Disruption of oxygen-regulated responses underlies pathological changes in the placentas of women who smoke or who are passively exposed to smoke during pregnancy., Reprod. Toxicol.
Thomas et al., 2006, Hypoxia-inducible factor determines sensitivity to inhibitors of mTOR in kidney cancer., Nat. Med.
Palayoor et al., 2004, Effect of radiation and ibuprofen on normoxic renal carcinoma cells overexpressing hypoxia-inducible factors by loss of von Hippel-Lindau tumor suppressor gene function., Clin. Cancer Res.
Mallon et al., 2011, Antitumor efficacy of PKI-587, a highly potent dual PI3K/mTOR kinase inhibitor., Clin. Cancer Res.
Wilhelm et al., 2011, Regorafenib (BAY 73-4506): a new oral multikinase inhibitor of angiogenic, stromal and oncogenic receptor tyrosine kinases with potent preclinical antitumor activity., Int. J. Cancer
Zhou et al., 2016, Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia., N. Engl. J. Med.

TELAGLENASTAT VHL

Interaction Score: 4.12

Interaction Types & Directionality:

n/a

Interaction Info:

Approval Status Preclinical - Cell line xenograft

combination therapy CB-839 + Olaparib

Evidence Type Actionable

PMIDs:
28346230

Sources:
JAX-CKB
RUXOLITINIB VHL

Interaction Score: 0.92

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
27518686

Sources:
CIViC
SARACATINIB VHL

Interaction Score: 0.69

Interaction Types & Directionality:

n/a

Interaction Info:

Evidence Type Actionable

Approval Status Phase II

Response Type no benefit

PMIDs:
26802156

Sources:
JAX-CKB
TEMSIROLIMUS VHL

Interaction Score: 0.55

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
16341243

Sources:
CIViC
BEVACIZUMAB VHL

Interaction Score: 0.4

Interaction Types & Directionality:

n/a

Interaction Info:

Indication/Tumor Type renal cell carcinoma

Response Type sensitive

Approval Status Preclinical

PMIDs:
16827904 22931246

Sources:
JAX-CKB
APITOLISIB VHL

Interaction Score: 0.39

Interaction Types & Directionality:

n/a

Interaction Info:

Indication/Tumor Type renal cell carcinoma

Response Type no benefit

Approval Status Phase II

PMIDs:
26951309

Sources:
JAX-CKB
SUNITINIB VHL

Interaction Score: 0.32

Interaction Types & Directionality:

n/a

Interaction Info:

Approval Status Preclinical - Pdx

Response Type predicted – sensitive

Indication/Tumor Type kidney cancer

PMIDs:
26487278 22105611

Sources:
JAX-CKB
EVEROLIMUS VHL

Interaction Score: 0.32

Interaction Types & Directionality:

n/a

Interaction Info:

Indication/Tumor Type renal cell carcinoma

Response Type sensitive

Approval Status Phase I

PMIDs:
26951309

Sources:
JAX-CKB CIViC
OLAPARIB VHL

Interaction Score: 0.31

Interaction Types & Directionality:

n/a

Interaction Info:

combination therapy BPTES + Olaparib

Indication/Tumor Type renal cell carcinoma

Response Type sensitive

PMIDs:
28346230

Sources:
JAX-CKB
REGORAFENIB VHL

Interaction Score: 0.29

Interaction Types & Directionality:

n/a

Interaction Info:

Indication/Tumor Type renal cell carcinoma

Response Type predicted – sensitive

Approval Status Preclinical - Cell line xenograft

PMIDs:
21170960

Sources:
JAX-CKB
GEDATOLISIB VHL

Interaction Score: 0.28

Interaction Types & Directionality:

n/a

Interaction Info:

Indication/Tumor Type renal carcinoma

Response Type decreased response

Approval Status Preclinical

PMIDs:
21325073

Sources:
JAX-CKB
IBUPROFEN VHL

Interaction Score: 0.26

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
15217953

Sources:
NCI
TRAMETINIB VHL

Interaction Score: 0.2

Interaction Types & Directionality:

n/a

Interaction Info:

combination therapy Sunitinib + Trametinib

Indication/Tumor Type kidney cancer

Response Type predicted – sensitive

PMIDs:
26487278

Sources:
JAX-CKB
CEDIRANIB VHL

Interaction Score: 0.18

Interaction Types & Directionality:

n/a

Interaction Info:

combination therapy Cediranib + Saracatinib

Indication/Tumor Type renal clear cell carcinoma

Response Type no benefit

PMIDs:
26802156

Sources:
JAX-CKB
NICOTINE VHL

Interaction Score: 0.17

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
14555188

Sources:
NCI

Ensembl: ENSG00000134086
- Version: 101_38
Alternate Names:

VHL Ensembl Gene Name

Gene Info:

Gene Biotype PROTEIN_CODING

Publications:

JAX-CKB: VHL

Version: 27-September-2017

Alternate Names:

7428 CKB Entrez Id

VHL CKB Gene Synonym

HRCA1 CKB Gene Synonym

Gene Info:

Publications:

Powles et al., 2016, Randomized Open-Label Phase II Trial of Apitolisib (GDC-0980), a Novel Inhibitor of the PI3K/Mammalian Target of Rapamycin Pathway, Versus Everolimus in Patients With Metastatic Renal Cell Carcinoma., J. Clin. Oncol.

Okazaki et al., 2017, Glutaminase and poly(ADP-ribose) polymerase inhibitors suppress pyrimidine synthesis and VHL-deficient renal cancers., J. Clin. Invest.

Bridgeman et al., 2016, Preclinical Evidence That Trametinib Enhances the Response to Antiangiogenic Tyrosine Kinase Inhibitors in Renal Cell Carcinoma., Mol. Cancer Ther.

CIViC: VHL

Version: 14-September-2020

Alternate Names:

7428 Entrez Gene ID

58 CIViC Gene ID

Gene Info:

Gene Categories:

DRUG RESISTANCE

Publications:

Kim et al., 2017, Prognostic and predictive value of VHL gene alteration in renal cell carcinoma: a meta-analysis and review., Oncotarget

Powles et al., 2016, Randomized Open-Label Phase II Trial of Apitolisib (GDC-0980), a Novel Inhibitor of the PI3K/Mammalian Target of Rapamycin Pathway, Versus Everolimus in Patients With Metastatic Renal Cell Carcinoma., J. Clin. Oncol.

Thomas et al., 2006, Hypoxia-inducible factor determines sensitivity to inhibitors of mTOR in kidney cancer., Nat. Med.

NCI: VHL

Version: 14-September-2017

Alternate Names:

Gene Info:

Publications:

Kuniyasu et al., A role of histone H4 hypoacetylation in vascular endothelial growth factor expression in colon mucosa adjacent to implanted cancer in athymic mice cecum., Pathobiology

Palayoor et al., 2004, Effect of radiation and ibuprofen on normoxic renal carcinoma cells overexpressing hypoxia-inducible factors by loss of von Hippel-Lindau tumor suppressor gene function., Clin. Cancer Res.

Beppu et al., 2005, Topotecan blocks hypoxia-inducible factor-1alpha and vascular endothelial growth factor expression induced by insulin-like growth factor-I in neuroblastoma cells., Cancer Res.

Tempus: VHL
- Version: 11-November-2018
Alternate Names:

VHL Gene Symbol

Gene Info:

Gene Categories:

CLINICALLY ACTIONABLE

Publications:
TTD: von Hippel-Lindau disease tumor suppressor
- Version: 2020.06.01
Alternate Names:

VHL TTD Gene Abbreviation

T80423 TTD Target ID

Gene Info:

Publications:
Pharos: VHL
- Version: 01-February-2022
Alternate Names:

von Hippel-Lindau disease tumor suppressor Gene Name

P40337 UniProt ID

Gene Info:

Gene Categories:

TRANSCRIPTION FACTOR

Publications:
MskImpact: VHL
- Version: May-2015
Alternate Names:

Gene Info:

Gene Categories:

CLINICALLY ACTIONABLE

Publications:
FoundationOneGenes: VHL
- Version: 03-September-2020
Alternate Names:

Gene Info:

Gene Categories:

CLINICALLY ACTIONABLE

Publications:
CarisMolecularIntelligence: VHL
- Version: 04-September-2020
Alternate Names:

Gene Info:

Gene Categories:

CLINICALLY ACTIONABLE

Publications:

Approval Status	Preclinical - Cell line xenograft
combination therapy	CB-839 + Olaparib
Evidence Type	Actionable

Indication/Tumor Type	renal cell carcinoma
Response Type	sensitive
Approval Status	Preclinical

Approval Status	Preclinical - Pdx
Response Type	predicted – sensitive
Indication/Tumor Type	kidney cancer

combination therapy	BPTES + Olaparib
Indication/Tumor Type	renal cell carcinoma
Response Type	sensitive

Indication/Tumor Type	renal carcinoma
Response Type	decreased response
Approval Status	Preclinical

combination therapy	Sunitinib + Trametinib
Indication/Tumor Type	kidney cancer
Response Type	predicted – sensitive

combination therapy	Cediranib + Saracatinib
Indication/Tumor Type	renal clear cell carcinoma
Response Type	no benefit

von Hippel-Lindau disease tumor suppressor	Gene Name
P40337	UniProt ID

VHL Gene Record

VHL 7428 Clinically ActionableDrug Resistance

Alternate Names:

Gene Info:

Gene Categories: Category Details

Publications:

Interaction Types & Directionality: n/a

Interaction Info: Approval Status Preclinical - Cell line xenograft combination therapy CB-839 + Olaparib Evidence Type Actionable

PMIDs: 28346230

Sources: JAX-CKB

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: 27518686

Sources: CIViC

Interaction Types & Directionality: n/a

Interaction Info: Evidence Type Actionable Approval Status Phase II Response Type no benefit

PMIDs: 26802156

Sources: JAX-CKB

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: 16341243

Sources: CIViC

Interaction Types & Directionality: n/a

Interaction Info: Indication/Tumor Type renal cell carcinoma Response Type sensitive Approval Status Preclinical

PMIDs: 16827904 22931246

Sources: JAX-CKB

Interaction Types & Directionality: n/a

Interaction Info: Indication/Tumor Type renal cell carcinoma Response Type no benefit Approval Status Phase II

PMIDs: 26951309

Sources: JAX-CKB

Interaction Types & Directionality: n/a

Interaction Info: Approval Status Preclinical - Pdx Response Type predicted – sensitive Indication/Tumor Type kidney cancer

PMIDs: 26487278 22105611

Sources: JAX-CKB

Interaction Types & Directionality: n/a

Interaction Info: Indication/Tumor Type renal cell carcinoma Response Type sensitive Approval Status Phase I

PMIDs: 26951309

Sources: JAX-CKB CIViC

Interaction Types & Directionality: n/a

Interaction Info: combination therapy BPTES + Olaparib Indication/Tumor Type renal cell carcinoma Response Type sensitive

PMIDs: 28346230

Sources: JAX-CKB

Interaction Types & Directionality: n/a

Interaction Info: Indication/Tumor Type renal cell carcinoma Response Type predicted – sensitive Approval Status Preclinical - Cell line xenograft

PMIDs: 21170960

Sources: JAX-CKB

Interaction Types & Directionality: n/a

Interaction Info: Indication/Tumor Type renal carcinoma Response Type decreased response Approval Status Preclinical

PMIDs: 21325073

Sources: JAX-CKB

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: 15217953

Sources: NCI

Interaction Types & Directionality: n/a

Interaction Info: combination therapy Sunitinib + Trametinib Indication/Tumor Type kidney cancer Response Type predicted – sensitive

PMIDs: 26487278

Sources: JAX-CKB

Interaction Types & Directionality: n/a

Interaction Info: combination therapy Cediranib + Saracatinib Indication/Tumor Type renal clear cell carcinoma Response Type no benefit

PMIDs: 26802156

Sources: JAX-CKB

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: 14555188

Sources: NCI

Ensembl: ENSG00000134086

Alternate Names: VHL Ensembl Gene Name

Gene Info: Gene Biotype PROTEIN_CODING

Publications:

JAX-CKB: VHL

Alternate Names: 7428 CKB Entrez Id VHL CKB Gene Synonym HRCA1 CKB Gene Synonym

Gene Info:

CIViC: VHL

Alternate Names: 7428 Entrez Gene ID 58 CIViC Gene ID

Gene Info:

Gene Categories: DRUG RESISTANCE

NCI: VHL

Alternate Names:

Gene Info:

Interaction Types & Directionality:

n/a

Interaction Info:

Approval Status Preclinical - Cell line xenograft

combination therapy CB-839 + Olaparib

Evidence Type Actionable

PMIDs:
28346230

Sources:
JAX-CKB

Interaction Types & Directionality:

n/a

PMIDs:
27518686

Sources:
CIViC

Interaction Types & Directionality:

n/a

Interaction Info:

Evidence Type Actionable

Approval Status Phase II

Response Type no benefit

PMIDs:
26802156

Sources:
JAX-CKB

Interaction Types & Directionality:

n/a

PMIDs:
16341243

Sources:
CIViC

Interaction Types & Directionality:

n/a

Interaction Info:

Indication/Tumor Type renal cell carcinoma

Response Type sensitive

Approval Status Preclinical

PMIDs:
16827904 22931246

Sources:
JAX-CKB

Interaction Types & Directionality:

n/a

Interaction Info:

Indication/Tumor Type renal cell carcinoma

Response Type no benefit

Approval Status Phase II

PMIDs:
26951309

Sources:
JAX-CKB

Interaction Types & Directionality:

n/a

Interaction Info:

Approval Status Preclinical - Pdx

Response Type predicted – sensitive

Indication/Tumor Type kidney cancer

PMIDs:
26487278 22105611

Sources:
JAX-CKB

Interaction Types & Directionality:

n/a

Interaction Info:

Indication/Tumor Type renal cell carcinoma

Response Type sensitive

Approval Status Phase I

PMIDs:
26951309

Sources:
JAX-CKB CIViC

Interaction Types & Directionality:

n/a

Interaction Info:

combination therapy BPTES + Olaparib

Indication/Tumor Type renal cell carcinoma

Response Type sensitive

PMIDs:
28346230

Sources:
JAX-CKB

Interaction Types & Directionality:

n/a

Interaction Info:

Indication/Tumor Type renal cell carcinoma

Response Type predicted – sensitive

Approval Status Preclinical - Cell line xenograft

PMIDs:
21170960

Sources:
JAX-CKB

Interaction Types & Directionality:

n/a

Interaction Info:

Indication/Tumor Type renal carcinoma

Response Type decreased response

Approval Status Preclinical

PMIDs:
21325073

Sources:
JAX-CKB

Interaction Types & Directionality:

n/a

PMIDs:
15217953

Sources:
NCI

Interaction Types & Directionality:

n/a

Interaction Info:

combination therapy Sunitinib + Trametinib

Indication/Tumor Type kidney cancer

Response Type predicted – sensitive

PMIDs:
26487278

Sources:
JAX-CKB

Interaction Types & Directionality:

n/a

Interaction Info:

combination therapy Cediranib + Saracatinib

Indication/Tumor Type renal clear cell carcinoma

Response Type no benefit

PMIDs:
26802156

Sources:
JAX-CKB

Interaction Types & Directionality:

n/a

PMIDs:
14555188

Sources:
NCI

Alternate Names:

VHL Ensembl Gene Name

Gene Info:

Gene Biotype PROTEIN_CODING

Alternate Names:

7428 CKB Entrez Id

VHL CKB Gene Synonym

HRCA1 CKB Gene Synonym

Alternate Names:

7428 Entrez Gene ID

58 CIViC Gene ID

Gene Categories:

DRUG RESISTANCE

Alternate Names:

VHL Gene Symbol

Gene Categories:

CLINICALLY ACTIONABLE

Alternate Names:

VHL TTD Gene Abbreviation

T80423 TTD Target ID

Alternate Names:

von Hippel-Lindau disease tumor suppressor Gene Name

P40337 UniProt ID

Gene Categories:

TRANSCRIPTION FACTOR

Gene Categories:

CLINICALLY ACTIONABLE

Gene Categories:

CLINICALLY ACTIONABLE

Gene Categories:

CLINICALLY ACTIONABLE