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Vps13b Gene Detail
Summary
  • Symbol
    Vps13b
  • Name
    vacuolar protein sorting 13B
  • Synonyms
    1810042B05Rik, 2310042E16Rik, C330002D13Rik, Coh1, mKIAA0532, mKIAA5032
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916380
    NCBI Gene: 666173
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:35371306-35931375 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 14.46 cM, cytoband B3.3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    12214 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916380
 protein coding gene Chr15:35371264-35931375 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021787
 protein coding gene Chr15:33740808-34303056 (+)
A/J MGP_AJ_G0021748
 protein coding gene Chr15:32468082-33008711 (+)
AKR/J MGP_AKRJ_G0021726
 protein coding gene Chr15:33321415-33905371 (+)
BALB/cJ MGP_BALBcJ_G0021754
 protein coding gene Chr15:32444539-33011905 (+)
C3H/HeJ MGP_C3HHeJ_G0021529
 protein coding gene Chr15:33310086-33893524 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022193
 protein coding gene Chr15:35016663-35597279 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019731
 protein coding gene Chr15:30310368-30853154 (+)
CAST/EiJ MGP_CASTEiJ_G0021045
 protein coding gene Chr15:33716697-34296407 (+)
CBA/J MGP_CBAJ_G0021498
 protein coding gene Chr15:36104924-36739453 (+)
DBA/2J MGP_DBA2J_G0021622
 protein coding gene Chr15:32268260-32821265 (+)
FVB/NJ MGP_FVBNJ_G0021600
 protein coding gene Chr15:31688318-32231735 (+)
LP/J MGP_LPJ_G0021691
 protein coding gene Chr15:33641470-34205708 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021625
 protein coding gene Chr15:39123232-39852412 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022216
 protein coding gene Chr15:33504166-34062645 (+)
PWK/PhJ MGP_PWKPhJ_G0020789
 protein coding gene Chr15:32305493-32842910 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020627
 protein coding gene Chr15:33196315-33776466 (+)
WSB/EiJ MGP_WSBEiJ_G0021101
 protein coding gene Chr15:33467878-34052265 (+)



Homology
more
  • Human Ortholog
    VPS13B, vacuolar protein sorting 13 homolog B
  • Vertebrate Orthologs
    1
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    VPS13B, vacuolar protein sorting 13 homolog B
  • Synonyms
    BLTP5B, CHS1, COH1
  • Links
    NCBI Gene ID: 157680
    neXtProt AC: NX_Q7Z7G8
    UniProt: Q7Z7G8

  • Chr Location
    8q22.2; chr8:99013266-99877580 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Vps13b mouse models; 1 with human VPS13B associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    46 phenotypes from 3 alleles in 3 genetic backgrounds
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous knockout affects the Golgi apparatus in spermatids which leads to male infertility. Homozygous KO also leads to early-onset cataracts and to hypoactivity and impaired motor coordination and spatial learning.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    10
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    88
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000037646 Ensembl Gene Model | MGI Sequence Detail 560070 C57BL/6J ±  kb
    transcript ENSMUST00000048646 Ensembl | MGI Sequence Detail 13757 Not Applicable  
    polypeptide ENSMUSP00000045490 Ensembl | MGI Sequence Detail 3993 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000017320 intermembrane lipid transfer protein VPS13B
      (term hierarchy)
    • InterPro Domains
      IPR039782 Intermembrane lipid transfer protein VPS13B
      IPR031645 Vacuolar protein sorting-associated protein 13, DH-like domain
      IPR026854 Vacuolar protein sorting-associated protein 13-like, N-terminal domain
      IPR009543 Vacuolar protein sorting-associated protein 13, VPS13 adaptor binding domain
    • GlyGen
      Q80TY5 2 sites, 2 N-linked glycans (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 88
      cDNA 88

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1923710, MGI:2146315, MGI:2443954
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 10
      Phenotypes 20
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:353822 Vacca F, et al., Exploring the pathological mechanisms underlying Cohen syndrome. Front Neurosci. 2024;18:1431400
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory