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Gene Ontology Classifications
Symbol
Name
ID
Vhl
von Hippel-Lindau tumor suppressor
MGI:103223

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Automated description from the Alliance of Genome Resources (Release 7.4.0)

Predicted to enable several functions, including DNA-binding transcription factor binding activity; transcription elongation factor activity; and ubiquitin-like ligase-substrate adaptor activity. Involved in regulation of postsynapse organization and regulation protein catabolic process at postsynapse. Acts upstream of or within several processes, including camera-type eye morphogenesis; enteroendocrine cell differentiation; and regulation of apoptotic process. Located in cilium; cytoplasm; and nuclear lumen. Part of Cul2-RING ubiquitin ligase complex. Is active in glutamatergic synapse and postsynaptic density. Is expressed in several structures, including extraembryonic component; eye; genitourinary system; gut; 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).



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Gene Ontology Evidence Code Abbreviations:

Experimental:
EXP
Inferred from experiment
HMP
Inferred from high throughput mutant phenotype
HGI
Inferred from high throughput genetic interaction
HDA
Inferred from high throughput direct assay
HEP
Inferred from high throughput expression pattern
IDA
Inferred from direct assay
IEP
Inferred from expression pattern
IGI
Inferred from genetic interaction
IMP
Inferred from mutant phenotype
IPI
Inferred from physical interaction
Homology:
IAS
Inferred from ancestral sequence
IBA
Inferred from biological aspect of ancestor
IBD
Inferred from biological aspect of descendant
IKR
Inferred from key residues
IMR
Inferred from missing residues
IRD
Inferred from rapid divergence
ISA
Inferred from sequence alignment
ISM
Inferred from sequence model
ISO
Inferred from sequence orthology
ISS
Inferred from sequence or structural similarity
Automated:
IEA
Inferred from electronic annotation
RCA
Reviewed computational analysis
Other:
IC
Inferred by curator
NAS
Non-traceable author statement
ND
No biological data available
TAS
Traceable author statement

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Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory