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Cd320 Gene Detail
Summary
  • Symbol
    Cd320
  • Name
    CD320 antigen
  • Synonyms
    425O18-1, 8D6, D17Ertd716e, NG29, TCblR, VLDL
  • Feature Type
    protein coding gene
  • IDs
    MGI:1860083
    NCBI Gene: 54219
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:34062065-34068748 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 17.98 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1860083
 protein coding gene Chr17:34062065-34068748 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023540
 protein coding gene Chr17:33786410-33795852 (+)
A/J MGP_AJ_G0023499
 protein coding gene Chr17:32623034-32629639 (+)
AKR/J MGP_AKRJ_G0023465
 protein coding gene Chr17:33004186-33010752 (+)
BALB/cJ MGP_BALBcJ_G0023503
 protein coding gene Chr17:32768278-32775214 (+)
C3H/HeJ MGP_C3HHeJ_G0023266
 protein coding gene Chr17:33350284-33353498 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023947
 protein coding gene Chr17:35045552-35052477 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021420
 protein coding gene Chr17:30128858-30135305 (+)
CAST/EiJ MGP_CASTEiJ_G0022768
 protein coding gene Chr17:33464531-33471137 (+)
CBA/J MGP_CBAJ_G0023242
 protein coding gene Chr17:36436339-36442813 (+)
DBA/2J MGP_DBA2J_G0023371
 protein coding gene Chr17:32000833-32016669 (+)
FVB/NJ MGP_FVBNJ_G0023340
 protein coding gene Chr17:31858172-31865323 (+)
LP/J MGP_LPJ_G0023449
 protein coding gene Chr17:34060359-34068349 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023360
 protein coding gene Chr17:35489973-35496379 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023987
 protein coding gene Chr17:33334842-33341478 (+)
PWK/PhJ MGP_PWKPhJ_G0022516
 protein coding gene Chr17:30903558-30910187 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022332
 protein coding gene Chr17:31299925-31306473 (+)
WSB/EiJ MGP_WSBEiJ_G0022827
 protein coding gene Chr17:33370853-33377398 (+)



Homology
more
  • Human Ortholog
    CD320, CD320 molecule
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CD320, CD320 molecule
  • Synonyms
    8D6, 8D6A, sCD320, TCBLR, TCII-R, TCN2R
  • Links
    NCBI Gene ID: 51293
    neXtProt AC: NX_Q9NPF0
    UniProt: Q9NPF0

  • Chr Location
    19p13.2; chr19:8302127-8308358 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cd320 mouse models; 1 with human CD320 associations

Human Disease Mouse Models
      
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
    10 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.
The homozygous mutant and heterozygous mice exhibited an increased mean retinal artery-to-vein ratio when compared with controls. Mice homozygous for a gene trap knock-out allele exhibit vitamin B12 deficiency in the central nervous system.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • 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
    753
  • Tissues
    22
  • cDNA Data
    64
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 54219 NCBI Gene Model | MGI Sequence Detail 6684 C57BL/6J ±  kb
    transcript NM_001305169 RefSeq | MGI Sequence Detail 2214 ZRU/MplStud  
    polypeptide Q9Z1P5 UniProt | EBI | MGI Sequence Detail 260 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000001306 CD320 molecule
      (term hierarchy)
    • InterPro Domains
      IPR036055 LDL receptor-like superfamily
      IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
      IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
      IPR051221 Low-density lipoprotein receptor-related
    • GlyGen
      Q9Z1P5 4 sites, 2 N-linked glycans (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 71
      Genomic 1
      cDNA 65
      Primer pair 5

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1289153
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 8
      Phenotypes 20
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • 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
    11/05/2024
    MGI 6.24     		The Jackson Laboratory