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Cubn
Gene Detail
 Symbol
Name
ID
Cubn
cubilin (intrinsic factor-cobalamin receptor)
MGI:1931256
Synonyms D2Wsu88e
Feature Type protein coding gene
Genetic Map
Chromosome 2
9.86 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr2:13276338-13491924 bp, - strand
From VEGA annotation of GRCm38

  215587 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37434  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: intrinsic factor-B12 receptor cubilin
Gene Tree: Cubn

Human
homologs
Human Homolog CUBN, cubilin (intrinsic factor-cobalamin receptor)
NCBI Gene ID 8029
neXtProt AC  NX_O60494
Human Synonyms  gp280, IFCR, MGA1
Human Chr (Location)  10p12.31; chr10:16823966-17129817 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human CUBN
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(3) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null mutation display embryonic lethality during organogenesis, yolk sac and allantoic vasculature defects, embryonic and visceral endoderm defects, and lack somites. Heterozygotes display incomplete penetrance of premature death.
 
Phenotype Images(4)
Interactions
Cubn interacts with 202 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (43 annotations)
Process cholesterol metabolic process, cobalamin transport, ...
Component apical part of cell, apical plasma membrane, ...
Function calcium ion binding, cobalamin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (20 records)
Data Summary: Results (33)    Tissues (10)    Images (19)
Theiler Stages: 7, 9, 10, 11, 13, 15, 23
Assay TypeResults
Immunohistochemistry 6
RNA in situ 21
RT-PCR 6
cDNA source data(14)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(20) cDNA(17) Primer pair(3)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000011227 (Evidence)
Ensembl Gene ModelENSMUSG00000026726 (Evidence)
Entrez Gene65969 (Evidence)
DFCITC1582368, TC1615694, TC1636914, TC1704075
DoTSDT.101382949, DT.110741565, DT.110741569, DT.529421, DT.91334751, DT.94131603
NIA Mouse Gene IndexU022297
Consensus CDS ProjectCCDS38048.1
International Mouse Knockout Project StatusCubn
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000011227 VEGA Gene Model | MGI Sequence Detail 215587 C57BL/6J ±  kb
transcript OTTMUST00000026352 VEGA | MGI Sequence Detail 11373 Not Applicable 
polypeptide OTTMUSP00000012052 VEGA | MGI Sequence Detail 3623 Not Applicable 

For the selected sequences
All sequences(43) RefSeq(2) UniProt(2)
Polymorphisms SNPs within 2kb(1327 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000859 CUB domain
InterPro IPR024731 EGF domain, merozoite surface protein 1-like
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR000742 Epidermal growth factor-like domain
Protein Ontology PR:000006043 cubilin
References (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:201765 Aseem O, et al., Cubilin expression is monoallelic and epigenetically augmented via PPARs. BMC Genomics. 2013;14:405
All references(56)
Other
accession IDs
MGD-MRK-34236, MGI:106542, MGI:2138751, MGI:2139122

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory