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

Acts upstream of or within several processes, including hemopoiesis; pronephric duct development; and regulation of signal transduction. Predicted to be located in endoplasmic reticulum and plasma membrane. Predicted to be part of VCB complex. Predicted to be active in nucleus. 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 several human genes including 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

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 53 figures from 17 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
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