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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
Location & Maps
more
  • Sequence Map
    Chr17:33843091-33849774 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6684 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CD320, CD320 molecule
  • Vertebrate Orthologs
    6
  • Human Ortholog
    CD320, CD320 molecule
    Orthology source: HGNC, HomoloGene
  • Synonyms
    8D6, 8D6A, TCBLR
  • Links
    NCBI Gene ID: 51293
    neXtProt AC: NX_Q9NPF0

  • Chr Location
    19p13.3-p13.2; chr19:8302127-8308356 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Cd320 mouse models; 1 with human CD320 associations

Human Disease Mouse Models
       Methylmalonic Aciduria Due to Transcobalamin Receptor Defect   OMIM: 613646 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
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  • Phenotype Summary
    8 phenotypes from 2 alleles in 2 genetic backgrounds
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Gene trapped
    4
  • Targeted
    1
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037211 VEGA Gene Model | MGI Sequence Detail 6684 C57BL/6J ±  kb
transcript OTTMUST00000095957 VEGA | MGI Sequence Detail 2209 Not Applicable  
polypeptide OTTMUSP00000053572 VEGA | MGI Sequence Detail 260 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    134 from dbSNP Build 137
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000001306 CD320 molecule
  • InterPro Domains
    IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
    IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
Molecular
Reagents
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  • All nucleic 68
    Genomic 1
    cDNA 64
    Primer pair 3

    Microarray probesets 3
Other
Accession IDs
less
MGI:1289153
References
more
  • Summaries
    All 37
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 4
    Phenotypes 7
  • 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:199961 Lai SC, et al., The transcobalamin receptor knockout mouse: a model for vitamin B12 deficiency in the central nervous system. FASEB J. 2013 Jun;27(6):2468-75

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory