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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
Chr2:13276338-13491813 bp, - strand
From VEGA annotation of GRCm38

  215476 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

HCOP human homology predictions: CUBN
Protein SuperFamily: intrinsic factor-B12 receptor cubilin
Gene Tree: Cubn

Human
homologs
CUBN, cubilin (intrinsic factor-cobalamin receptor)
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 8029
neXtProt AC: NX_O60494

Human Synonyms: gp280, IFCR, MGA1

Human Chr (Location): 10p12.31; chr10:16823966-17130249 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human CUBN

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(3) Targeted(5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 6
RNA in situ 21
RT-PCR 6
cDNA source data(14)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cubn ; ZFIN cubn    NEW 
Molecular
reagents
All nucleic(20) cDNA(17) Primer pair(3)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000011227 (Evidence)
Ensembl Gene Model ENSMUSG00000026726 (Evidence)
Entrez Gene 65969 (Evidence)
DFCI TC1582368, TC1615694, TC1636914, TC1704075
DoTS DT.101382949, DT.110741565, DT.110741569, DT.529421, DT.91334751, DT.94131603
NIA Mouse Gene Index U022297
Consensus CDS Project CCDS38048.1
International Mouse Phenotyping Consortium Status Cubn
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000011227 VEGA Gene Model | MGI Sequence Detail 215476 C57BL/6J ±  kb
transcript OTTMUST00000026352 VEGA | MGI Sequence Detail 11262 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 IPR028876 Cubilin
InterPro IPR024731 EGF domain
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR001881 EGF-like calcium-binding domain
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000742 EGF-like domain
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
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
08/25/2015
MGI 6.0
The Jackson Laboratory