Gene

vhl

ID

ZDB-GENE-070112-1042

Name

von Hippel-Lindau tumor suppressor

Symbol

vhl Nomenclature History

Previous Names

zgc:158722 (1)

Type

protein_coding_gene

Location

Chr: 6 Mapping Details/Browsers

Description

Involved in protein ubiquitination. Acts upstream of or within several processes, including hemopoiesis; pronephric duct development; and regulation of vascular endothelial growth factor receptor signaling pathway. Predicted to be part of VCB complex. Is expressed in several structures, including lateral mesoderm; liver; nervous system; otic vesicle; and pleuroperitoneal region. Used to study clear cell renal cell carcinoma; familial erythrocytosis 2; and von Hippel-Lindau disease. Human ortholog(s) of this gene implicated in several diseases, including pancreatic cancer (multiple); pheochromocytoma; polycythemia (multiple); renal cell carcinoma; and von Hippel-Lindau disease. Orthologous to human VHL (von Hippel-Lindau tumor suppressor).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 5 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 52 figures from 16 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With vhl Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
familial erythrocytosis 2	Alliance	Erythrocytosis, familial, 2	263400
nonpapillary renal cell carcinoma	Alliance	Renal cell carcinoma, somatic	144700
pheochromocytoma	Alliance	Pheochromocytoma	171300
von Hippel-Lindau disease	Alliance	von Hippel-Lindau syndrome	193300
		Hemangioblastoma, cerebellar, somatic

Associated With vhl Via Experimental Models

Human Disease	Fish	Conditions	Citations
von Hippel-Lindau disease	vhl^{hu2117/hu2117}; y1Tg	standard conditions	Ward et al., 2019
von Hippel-Lindau disease	vhl^{hu2117/hu2117}	standard conditions	Martins Metelo et al., 2015
clear cell renal cell carcinoma	vhl^{hu2117/hu2117}	standard conditions	Noonan et al., 2016
familial erythrocytosis 2	vhl^{hu2081/hu2081}	standard conditions	van Rooijen et al., 2009
familial erythrocytosis 2	vhl^hu2081/+; vhl^hu2117/+	standard conditions	van Rooijen et al., 2009
familial erythrocytosis 2	vhl^{hu2117/hu2117}	standard conditions	van Rooijen et al., 2009

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR022772	von Hippel-Lindau disease tumour suppressor, beta/alpha domain
Domain	IPR024048	von Hippel-Lindau disease tumour suppressor, alpha domain
Domain	IPR024053	von Hippel-Lindau disease tumour suppressor, beta domain
Family	IPR002714	von Hippel-Lindau tumour suppressor protein
Homologous_superfamily	IPR036208	VHL superfamily
Homologous_superfamily	IPR037139	von Hippel-Lindau disease tumour suppressor, alpha domain superfamily
Homologous_superfamily	IPR037140	von Hippel-Lindau disease tumour suppressor, beta domain superfamily