1. Gene
  2. Vhl - von Hippel-Lindau tumor suppressor Gene

Vhl - von Hippel-Lindau tumor suppressor Gene

Mus musculus

Also known as Vhlh; pVHL

Gene ID: 22346 | Gene type: protein coding

About Vhl

Summary

Predicted to enable enzyme binding activity and ubiquitin ligase-substrate adaptor activity. Involved in regulation of postsynapse organization and regulation of protein catabolic process at postsynapse, modulating synaptic transmission. Acts upstream of or within several processes, including camera-type eye morphogenesis; enteroendocrine cell differentiation; and regulation of apoptotic process. Located in several cellular components, including cilium; glutamatergic synapse; and nuclear lumen. Part of Cul2-RING ubiquitin Ligase complex. Is expressed in several structures, including eye; genitourinary system; gut; heart; and nervous system. Used to study familial erythrocytosis 2; sudden infant death syndrome; 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). [provided by Alliance of Genome Resources, Apr 2022]

Vhl Products(1)

mRNA Protein Name
NM_009507.4 NP_033533.1 von Hippel-Lindau disease tumor suppressor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15601820 MGI
enables protein-containing complex binding IDA
IDA: Inferred from direct assay
17825299 MGI
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within angiogenesis IMP
IMP: Inferred from mutant phenotype
16537898 MGI
acts upstream of or within blood vessel endothelial cell migration IMP
IMP: Inferred from mutant phenotype
16537898 MGI
acts upstream of or within camera-type eye morphogenesis IGI
IGI: Inferred from genetic interaction
22627278 MGI
acts upstream of or within camera-type eye morphogenesis IMP
IMP: Inferred from mutant phenotype
22627278 MGI
acts upstream of or within ciliary body morphogenesis IMP
IMP: Inferred from mutant phenotype
22627278 MGI
acts upstream of endothelial cell differentiation IMP
IMP: Inferred from mutant phenotype
25186293 MGI
acts upstream of or within extracellular matrix organization IMP
IMP: Inferred from mutant phenotype
16537898 MGI
acts upstream of or within eye pigmentation IMP
IMP: Inferred from mutant phenotype
22627278 MGI
acts upstream of or within homeostasis of number of retina cells IMP
IMP: Inferred from mutant phenotype
22627278 MGI
acts upstream of hypoxia-inducible factor-1alpha signaling pathway IMP
IMP: Inferred from mutant phenotype
25186293 MGI
acts upstream of or within iris morphogenesis IGI
IGI: Inferred from genetic interaction
22627278 MGI
acts upstream of or within iris morphogenesis IMP
IMP: Inferred from mutant phenotype
22627278 MGI
acts upstream of or within melanin metabolic process IMP
IMP: Inferred from mutant phenotype
22627278 MGI
acts upstream of or within negative regulation of endothelial cell differentiation IMP
IMP: Inferred from mutant phenotype
25186293 MGI
acts upstream of or within negative regulation of gene expression IMP
IMP: Inferred from mutant phenotype
22627278 MGI
acts upstream of or within negative regulation of hypoxia-inducible factor-1alpha signaling pathway IMP
IMP: Inferred from mutant phenotype
25186293 MGI
acts upstream of or within negative regulation of thymocyte apoptotic process IMP
IMP: Inferred from mutant phenotype
15456877 MGI
acts upstream of or within pancreatic A cell differentiation IMP
IMP: Inferred from mutant phenotype
25186293 MGI
acts upstream of or within positive regulation of epithelial cell proliferation IMP
IMP: Inferred from mutant phenotype
22627278 MGI
acts upstream of or within proteasomal protein catabolic process IMP
IMP: Inferred from mutant phenotype
17981124 MGI
acts upstream of or within protein catabolic process IMP
IMP: Inferred from mutant phenotype
12832481 MGI
acts upstream of or within protein transport IDA
IDA: Inferred from direct assay
16129783 MGI
acts upstream of or within regulation of apoptotic signaling pathway IGI
IGI: Inferred from genetic interaction
15456877 MGI
acts upstream of or within regulation of gene expression IMP
IMP: Inferred from mutant phenotype
22627278 MGI
involved in regulation of postsynapse organization IDA
IDA: Inferred from direct assay
26972007 MGI
involved in regulation of postsynapse organization IEP
IEP: Inferred from expression pattern
26972007 MGI
involved in regulation of postsynapse organization IMP
IMP: Inferred from mutant phenotype
26972007 MGI
acts upstream of or within regulation of protein localization IMP
IMP: Inferred from mutant phenotype
22627278 MGI
acts upstream of or within regulation of thymocyte apoptotic process IGI
IGI: Inferred from genetic interaction
15456877 MGI
involved in regulation protein catabolic process at postsynapse IDA
IDA: Inferred from direct assay
26972007 MGI
involved in regulation protein catabolic process at postsynapse IEP
IEP: Inferred from expression pattern
26972007 MGI
involved in regulation protein catabolic process at postsynapse IMP
IMP: Inferred from mutant phenotype
26972007 MGI
acts upstream of or within type B pancreatic cell differentiation IMP
IMP: Inferred from mutant phenotype
25186293 MGI
Cellular Component GO Annotation Evidence Reference Source
part of Cul2-RING ubiquitin ligase complex IDA
IDA: Inferred from direct assay
16129783 MGI
located in cilium IDA
IDA: Inferred from direct assay
17825299 MGI
located in cytoplasm IDA
IDA: Inferred from direct assay
16129783 MGI
is active in glutamatergic synapse IDA
IDA: Inferred from direct assay
26972007 MGI
is active in glutamatergic synapse IEP
IEP: Inferred from expression pattern
26972007 MGI
is active in glutamatergic synapse IMP
IMP: Inferred from mutant phenotype
26972007 MGI
located in nucleolus IDA
IDA: Inferred from direct assay
16129783 MGI
located in nucleoplasm IDA
IDA: Inferred from direct assay
16129783 MGI
located in nucleus IDA
IDA: Inferred from direct assay
16129783 MGI
is active in postsynaptic density IDA
IDA: Inferred from direct assay
26972007 MGI
is active in postsynaptic density IEP
IEP: Inferred from expression pattern
26972007 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

von Hippel-Lindau disease tumor suppressor

von Hippel-Lindau syndrome protein homolog

Orthologs Information

Species Symbol Source ID
Homo sapiens Vhl NCBI NCBI:7428