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 chimpanzee; 1 cattle; 1 dog; 1 chicken; 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; chr10:16865965-17171816 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human CUBN

Alleles and phenotypes

All alleles(7) : Targeted(4) Gene trapped(3)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (36 annotations)

Process	cholesterol metabolic process, hemoglobin import, ...
Component	apical part of cell, apical plasma membrane, ...
Function	calcium ion binding, cobalamin binding, ...

External Resources: FuncBase

Expression

Literature Summary: (19 records)
Data Summary: Results (33)    Tissues (10)    Images (19)
Theiler Stages: 7, 9, 10, 11, 13, 15, 23

Assay Type	Results
Immunohistochemistry	6
RNA in situ	21
RT-PCR	6

cDNA source data(14)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Cubn

Sequences

Length	Strain/Species
genomic	OTTMUSG00000011227	VEGA Gene Model | MGI Sequence Detail	215587	C57BL/6J
transcript	OTTMUST00000026352	VEGA | MGI Sequence Detail	11373	Not Applicable
polypeptide	OTTMUSP00000012052	VEGA | MGI Sequence Detail	3623	Not Applicable

All sequences(43) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(1266 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194051 Heliot C, et al., HNF1B controls proximal-intermediate nephron segment identity in vertebrates by regulating Notch signalling components and Irx1/2. Development. 2013 Feb;140(4):873-85
All references(54)

Other accession IDs

MGD-MRK-34236, MGI:106542, MGI:2138751, MGI:2139122