Homo sapiens Gene: VPS13B
Summary
InnateDB Gene IDBG-30161.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol VPS13B
Gene Name vacuolar protein sorting 13 homolog B (yeast)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000132549
Encoded Proteins
vacuolar protein sorting 13 homolog B (yeast)
vacuolar protein sorting 13 homolog B (yeast)
vacuolar protein sorting 13 homolog B (yeast)
vacuolar protein sorting 13 homolog B (yeast)
vacuolar protein sorting 13 homolog B (yeast)
vacuolar protein sorting 13 homolog B (yeast)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:99013266-99877580
Strand Forward strand
Band q22.2
Transcripts
ENST00000358544 ENSP00000351346
ENST00000357162 ENSP00000349685
ENST00000355155 ENSP00000347281
ENST00000441350 ENSP00000398472
ENST00000496144 ENSP00000430900
ENST00000524330
ENST00000521932
ENST00000522802
ENST00000521037
ENST00000521559 ENSP00000428809
ENST00000518569
ENST00000493587
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0015031 protein transport
Cellular Component
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.191540 Hs.599779 Hs.666372 Hs.685609
RefSeq NM_015243 NM_017890 NM_152564 NM_181661 XM_005250800 XM_005250801 XM_006716510
HUGO
OMIM
CCDS CCDS47903 CCDS6280 CCDS6281 CCDS6283
HPRD 06379
IMGT
EMBL
GenPept
RNA Seq Atlas