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Vac14 Gene Detail
Summary
  • Symbol
    Vac14
  • Name
    Vac14 homolog (S. cerevisiae)
  • Synonyms
    D8Wsu151e, ingls, MGC:38230, Tax1bp2, Trx
  • Feature Type
    protein coding gene
  • IDs
    MGI:2157980
    NCBI Gene: 234729
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:111345217-111447030 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 57.59 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1686 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2157980
 protein coding gene Chr8:111345161-111447030 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034125
 protein coding gene Chr8:113297638-113399468 (+)
A/J MGP_AJ_G0034104
 protein coding gene Chr8:108705387-108807472 (+)
AKR/J MGP_AKRJ_G0034031
 protein coding gene Chr8:111895711-111998752 (+)
BALB/cJ MGP_BALBcJ_G0034098
 protein coding gene Chr8:108899340-108999779 (+)
C3H/HeJ MGP_C3HHeJ_G0033809
 protein coding gene Chr8:112608583-112712223 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034618
 protein coding gene Chr8:117291524-117395694 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031560
 protein coding gene Chr8:101709014-101805942 (+)
CAST/EiJ MGP_CASTEiJ_G0033136
 protein coding gene Chr8:112219660-112322891 (+)
CBA/J MGP_CBAJ_G0033783
 protein coding gene Chr8:121258643-121363092 (+)
DBA/2J MGP_DBA2J_G0033938
 protein coding gene Chr8:108012349-108113154 (+)
FVB/NJ MGP_FVBNJ_G0033882
 protein coding gene Chr8:106967875-107070395 (+)
LP/J MGP_LPJ_G0034028
 protein coding gene Chr8:113487307-113591352 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033928
 protein coding gene Chr8:124193544-124296191 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034637
 protein coding gene Chr8:111865132-111967442 (+)
PWK/PhJ MGP_PWKPhJ_G0032839
 protein coding gene Chr8:107589665-107690992 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032678
 protein coding gene Chr8:110548765-110652601 (+)
WSB/EiJ MGP_WSBEiJ_G0033252
 protein coding gene Chr8:112551634-112653033 (+)



Homology
more
  • Human Ortholog
    VAC14, VAC14 component of PIKFYVE complex
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    VAC14, VAC14 component of PIKFYVE complex
  • Synonyms
    ArPIKfyve, TAX1BP2, TRX
  • Links
    NCBI Gene ID: 55697
    neXtProt AC: NX_Q08AM6
    UniProt: Q08AM6

  • Chr Location
    16q22.1-q22.2; chr16:70687439-70801160 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human VAC14 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    31 phenotypes from 2 alleles in 3 genetic backgrounds
    2 images
    14 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.
Mice homozygous for a null mutation display early postnatal lethality with lesions in multiple regions of the brain. Mice homozygous for a hypomorphic allele exhibit postnatal lethality, spongiform degeneration, enlarged brain ventricles and coat color dilution.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    8
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
    715
  • Tissues
    5
  • cDNA Data
    90
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000010936 Ensembl Gene Model | MGI Sequence Detail 101814 C57BL/6J ±  kb
    transcript ENSMUST00000034190 Ensembl | MGI Sequence Detail 3069 Not Applicable  
    polypeptide ENSMUSP00000034190 Ensembl | MGI Sequence Detail 782 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 93
      Genomic 1
      cDNA 91
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-35755, MGI:107290, MGI:2142449, MGI:2159426, MGI:2384587
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 3
      Gene Ontology 8
      Phenotypes 14
    • Earliest
      J:50869 Ko MSH, et al., Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Hum Mol Genet. 1998 Nov;7(12):1967-78
    • Latest
      J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034
    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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    Funding Information
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    12/10/2024
    MGI 6.24     		The Jackson Laboratory