Cubn MGI Mouse Gene Detail - MGI:1931256

Symbol

Cubn
Name

cubilin
Synonyms

D2Wsu88e, intrinsic factor-cobalamin receptor

Feature Type

protein coding gene
IDs

MGI:1931256
NCBI Gene: 65969
Alliance

gene page
Transcription Start Sites

16 TSS

Sequence Map

Chr2:13281149-13496624 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 9.86 cM
Mapping Data

2 experiments

SNPs within 2kb

6400 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1931256	protein coding gene	Chr2:13281149-13496687 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0025355	protein coding gene	Chr2:10763889-10992956 (-)
A/J	MGP_AJ_G0025332	protein coding gene	Chr2:10362519-10578510 (-)
AKR/J	MGP_AKRJ_G0025301	protein coding gene	Chr2:10662095-10886178 (-)
BALB/cJ	MGP_BALBcJ_G0025328	protein coding gene	Chr2:10353324-10571163 (-)
C3H/HeJ	MGP_C3HHeJ_G0025088	protein coding gene	Chr2:10610782-10832196 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025770	protein coding gene	Chr2:11047309-11291415 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023185	protein coding gene	Chr2:9965121-10190226 (-)
CAST/EiJ	MGP_CASTEiJ_G0024551	protein coding gene	Chr2:10575348-10794350 (-)
CBA/J	MGP_CBAJ_G0025067	protein coding gene	Chr2:11529777-11762660 (-)
DBA/2J	MGP_DBA2J_G0025199	protein coding gene	Chr2:10257457-10473153 (-)
FVB/NJ	MGP_FVBNJ_G0025161	protein coding gene	Chr2:10153200-10371583 (-)
LP/J	MGP_LPJ_G0025285	protein coding gene	Chr2:10672671-10894493 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025193	protein coding gene	Chr2:11404184-11638977 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025828	protein coding gene	Chr2:10578318-10801264 (-)
PWK/PhJ	MGP_PWKPhJ_G0024302	protein coding gene	Chr2:10144669-10358685 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0024102	protein coding gene	Chr2:10613826-10830564 (-)
WSB/EiJ	MGP_WSBEiJ_G0024621	protein coding gene	Chr2:10670445-10896489 (-)

Human Ortholog

CUBN, cubilin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CUBN, cubilin
Synonyms

gp280, IFCR, IGS, IGS1, MGA1
Links

HGNC:2548

NCBI Gene ID: 8029

neXtProt AC: NX_O60494

UniProt: O60494
Chr Location

10p13; chr10:16823966-17129811 (-) GRCh38

MGI Vertebrate Homology

Cubn stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CUBN
Gene Tree

Cubn

Diseases

1 with human CUBN associations

				Human Disease	Mouse Models
				coronary artery disease IDs coronary artery disease DOID:3393 DOID:10506 DOID:3363 DOID:3394 DOID:9420 EFO:0001645 ICD10CM:I20-I25 ICD10CM:I25 ICD10CM:I25.10 ICD9CM:410-414.99 ICD9CM:414.0 ICD9CM:414.9 MESH:D003324 MESH:D003327 MESH:D017202 NCI:C35505 NCI:C50625 OMIM:300464 OMIM:607339 OMIM:608316 OMIM:608318 OMIM:608320 OMIM:610947 OMIM:611139 OMIM:612030 OMIM:614293 UMLS_CUI:C0010054 UMLS_CUI:C0010068 UMLS_CUI:C0151744 UMLS_CUI:C0264694

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

22 phenotypes from 3 alleles in 3 genetic backgrounds
4 phenotypes from multigenic genotypes
4 images
19 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

9
Endonuclease-mediated

2
Gene trapped

2
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

160 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

58
GO References

16

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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

772
Tissues

33
cDNA Data

15
Literature Summary

32

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA CUBN

Xenbase cubn

ZFIN cubn

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All Sequences

45
RefSeq

2
UniProt

2
CCDS

CCDS38048.1

Ensembl

ENSMUSG00000026726 (Evidence)
NCBI Gene

65969

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026726	Ensembl Gene Model \| MGI Sequence Detail	215476	C57BL/6J	± kb
transcript	ENSMUST00000091436	Ensembl \| MGI Sequence Detail	11262	Not Applicable
polypeptide	ENSMUSP00000089009	Ensembl \| MGI Sequence Detail	3623	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000006043 cubilin

(term hierarchy)
InterPro Domains

IPR000859 CUB domain

IPR053119 Cubilin domain-containing protein

IPR050841 Developmental metalloproteases and endocytic receptors

IPR024731 EGF domain

IPR018097 EGF-like calcium-binding, conserved site

IPR001881 EGF-like calcium-binding domain

IPR013032 EGF-like, conserved site

IPR000742 EGF-like domain

IPR000152 EGF-type aspartate/asparagine hydroxylation site

IPR049883 NOTCH1 EGF-like calcium-binding domain

IPR035914 Spermadhesin, CUB domain superfamily
GlyGen

Q9JLB4 39 sites, 4 N-linked glycans (6 sites)

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All nucleic 25

cDNA 18

Primer pair 7

Microarray probesets 5

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

Summaries

All 82

Developmental Gene Expression 32

Gene Ontology 16

Phenotypes 19
Earliest

J:319880 Coffey JW, et al., Studies on the Interaction of Vitamin B12: Intrinsic Factor and Receptors. Arch Biochem Biophys. 1965 Apr;110:117-123
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Cubn:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr22708	Chr2:13498506-13498516 (-)	-1,887 bp
Tssr22707	Chr2:13498485-13498501 (-)	-1,869 bp
Tssr22706	Chr2:13498471-13498481 (-)	-1,852 bp
Tssr22705	Chr2:13498462-13498468 (-)	-1,841 bp
Tssr22704	Chr2:13496845-13496857 (-)	-227 bp
Tssr22703	Chr2:13496788-13496836 (-)	-188 bp
Tssr22702	Chr2:13496771-13496785 (-)	-154 bp
Tssr22701	Chr2:13496764-13496769 (-)	-143 bp
Tssr22700	Chr2:13496711-13496751 (-)	-107 bp
Tssr22699	Chr2:13496702-13496707 (-)	-81 bp
Tssr22698	Chr2:13496658-13496701 (-)	-56 bp
Tssr22697	Chr2:13429579-13429596 (-)	67,036 bp
Tssr22696	Chr2:13429563-13429574 (-)	67,055 bp
Tssr22695	Chr2:13418395-13418408 (-)	78,222 bp
Tssr22694	Chr2:13415611-13415616 (-)	81,010 bp
Tssr22693	Chr2:13288076-13288084 (-)	208,544 bp

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24