1. Gene
  2. Vps13b - vacuolar protein sorting 13B Gene

Vps13b - vacuolar protein sorting 13B Gene

Mus musculus

Also known as Coh1; 4732488H20; D230005K13; 1810042B05Rik; 2310042E16Rik; C330002D13Rik

Gene ID: 666173 | Gene type: protein coding

About Vps13b

Summary

Predicted to act upstream of or within protein transport. Used to study Cohen syndrome and cataract. Human ortholog(s) of this gene implicated in Cohen syndrome. Orthologous to human VPS13B (vacuolar protein sorting 13 homolog B). [provided by Alliance of Genome Resources, Apr 2022]

Vps13b Products(1)

mRNA Protein Name
NM_177151.4 NP_796125.2 intermembrane lipid transfer protein VPS13B
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables phosphatidylinositol-3-phosphate binding IDA
IDA: Inferred from direct assay
30962439 MGI
Biological Process GO Annotation Evidence Reference Source
involved in acrosome assembly IMP
IMP: Inferred from mutant phenotype
31218450 MGI
acts upstream of or within brain development IMP
IMP: Inferred from mutant phenotype
37573958 MGI
involved in central nervous system development IMP
IMP: Inferred from mutant phenotype
31495077 MGI
acts upstream of or within dentate gyrus development IMP
IMP: Inferred from mutant phenotype
37573958 MGI
acts upstream of or within head morphogenesis IMP
IMP: Inferred from mutant phenotype
37573958 MGI
involved in maintenance of lens transparency IMP
IMP: Inferred from mutant phenotype
32915983 MGI
acts upstream of or within memory IMP
IMP: Inferred from mutant phenotype
37573958 MGI
acts upstream of or within multicellular organism growth IMP
IMP: Inferred from mutant phenotype
37573958 MGI
acts upstream of or within muscle organ development IMP
IMP: Inferred from mutant phenotype
37573958 MGI
acts upstream of or within social behavior IMP
IMP: Inferred from mutant phenotype
37573958 MGI
Cellular Component GO Annotation Evidence Reference Source
located in acrosomal membrane IDA
IDA: Inferred from direct assay
31218450 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

intermembrane lipid transfer protein VPS13B

cohen syndrome protein 1 homolog

vacuolar protein sorting-associated protein 13B

Orthologs Information

Species Symbol Source ID
Homo sapiens Vps13b NCBI NCBI:157680