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Borcs5 Gene Detail
Summary
  • Symbol
    Borcs5
  • Name
    BLOC-1 related complex subunit 5
  • Synonyms
    5830457J20Rik, Loh12cr1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915024
    NCBI Gene: 67774
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:134616475-134688147 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 65.77 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2280 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915024
 protein coding gene Chr6:134616473-134688150 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031406
 protein coding gene Chr6:138906627-138987768 (+)
A/J MGP_AJ_G0031382
 protein coding gene Chr6:133475135-133543617 (+)
AKR/J MGP_AKRJ_G0031309
 protein coding gene Chr6:137521191-137590558 (+)
BALB/cJ MGP_BALBcJ_G0031388
 protein coding gene Chr6:133290460-133358631 (+)
C3H/HeJ MGP_C3HHeJ_G0031110
 protein coding gene Chr6:137568293-137638633 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031848
 protein coding gene Chr6:142693193-142768466 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028980
 protein coding gene Chr6:132618595-132684273 (+)
CAST/EiJ MGP_CASTEiJ_G0030479
 protein coding gene Chr6:136958958-137035608 (+)
CBA/J MGP_CBAJ_G0031069
 protein coding gene Chr6:148015236-148095762 (+)
DBA/2J MGP_DBA2J_G0031227
 protein coding gene Chr6:132323114-132394693 (+)
FVB/NJ MGP_FVBNJ_G0031177
 protein coding gene Chr6:131239581-131307030 (+)
LP/J MGP_LPJ_G0031311
 protein coding gene Chr6:139024888-139100698 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031217
 protein coding gene Chr6:152062545-152134142 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031881
 protein coding gene Chr6:137262196-137332647 (+)
PWK/PhJ MGP_PWKPhJ_G0030204
 protein coding gene Chr6:130808045-130880302 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030028
 protein coding gene Chr6:135431872-135501271 (+)
WSB/EiJ MGP_WSBEiJ_G0030570
 protein coding gene Chr6:137892486-137962969 (+)



Homology
more
  • Human Ortholog
    BORCS5, BLOC-1 related complex subunit 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BORCS5, BLOC-1 related complex subunit 5
  • Synonyms
    LOH12CR1, LOH1CR12
  • Links
    NCBI Gene ID: 118426
    neXtProt AC: NX_Q969J3
    UniProt: Q969J3

  • Chr Location
    12p13.2; chr12:12357078-12471233 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human BORCS5 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
    8 phenotypes from 2 alleles in 4 genetic backgrounds
    9 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 lysosomal transport in nerve fibers, leading to respiratory failure around birth and perinatal death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    30
  • GO References
    7
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
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
    718
  • Tissues
    4
  • cDNA Data
    36
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 67774 NCBI Gene Model | MGI Sequence Detail 71673 C57BL/6J ±  kb
    transcript NM_026371 RefSeq | MGI Sequence Detail 1777 C57BL/6  
    polypeptide Q9D920 UniProt | EBI | MGI Sequence Detail 195 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 36
      cDNA 36

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2141652
    References
    more
    • Summaries
      All 35
      Developmental Gene Expression 1
      Gene Ontology 7
      Phenotypes 9
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory