Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008] See more...

Aliases for CUBN Gene

Aliases for CUBN Gene

  • Cubilin 2 3 4 5
  • Cubilin (Intrinsic Factor-Cobalamin Receptor) 2 3
  • Intrinsic Factor-Vitamin B12 Receptor 3 4
  • Intestinal Intrinsic Factor Receptor 3 4
  • Intrinsic Factor-Cobalamin Receptor 2 4
  • 460 KDa Receptor 3 4
  • IFCR 3 4
  • Cubilin Precursor Variant 1 3
  • Cubilin Precursor Variant 2 3
  • Cubilin Precursor Variant 3 3
  • Gp280 3
  • MGA1 3

External Ids for CUBN Gene

Previous HGNC Symbols for CUBN Gene

  • MGA1

Previous GeneCards Identifiers for CUBN Gene

  • GC10M016848
  • GC10M017016
  • GC10M016870
  • GC10M016906

Summaries for CUBN Gene

Entrez Gene Summary for CUBN Gene

  • Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for CUBN Gene

CUBN (Cubilin) is a Protein Coding gene. Diseases associated with CUBN include Megaloblastic Anemia 1 and 3-Methylglutaconic Aciduria, Type I. Among its related pathways are Lipoprotein metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CNTNAP3B.

UniProtKB/Swiss-Prot Summary for CUBN Gene

  • Endocytic receptor which plays a role in lipoprotein, vitamin and iron metabolism by facilitating their uptake (PubMed:9572993, PubMed:10371504, PubMed:11717447, PubMed:11606717, PubMed:14576052). Acts together with LRP2 to mediate endocytosis of high-density lipoproteins, GC, hemoglobin, ALB, TF and SCGB1A1. Acts together with AMN to mediate endocytosis of the CBLIF-cobalamin complex (PubMed:9572993, PubMed:14576052). Binds to ALB, MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1, APOA1, high density lipoprotein, and the CBLIF-cobalamin complex. Ligand binding requires calcium (PubMed:9572993). Serves as important transporter in several absorptive epithelia, including intestine, renal proximal tubules and embryonic yolk sac. May play an important role in the development of the peri-implantation embryo through internalization of APOA1 and cholesterol. Binds to LGALS3 at the maternal-fetal interface.

Gene Wiki entry for CUBN Gene

Additional gene information for CUBN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CUBN Gene

Genomics for CUBN Gene

GeneHancer (GH) Regulatory Elements for CUBN Gene

Promoters and enhancers for CUBN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J017127 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE dbSUPER 511 +1.7 1730 3.8 ZNF316 SCRT1 MAFK ESRRA ZNF596 SCRT2 EMSY CUBN TRDMT1 piR-43103-008
GH10J017212 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.7 -85.7 -85736 7.7 NRF1 BCLAF1 GTF2E2 JUND FOS ZNF639 ZNF10 EP300 FOXA1 POLR2A TRDMT1 VIM CUBN VIM-AS1 lnc-VIM-3
GH10J017021 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 18.8 +104.2 104160 9.6 JUND FOS EP300 REST POLR2A TCF7 TAF7 RFX1 MYC RUNX1 VIM CUBN ENSG00000234961 TRDMT1 piR-38912-001 piR-43103-008
GH10J016964 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.8 +162.9 162932 5.8 TCF12 JUND FOS TEAD4 ZBTB5 REST TOE1 TRIM25 OSR2 NR2F2 CUBN VIM HSALNG0076417 piR-57392-001
GH10J016984 Enhancer 1.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.5 +143.2 143211 4.4 JUND FOS REST FOXA2 POLR2A MAFK ATF4 CEBPB JUN HLF CUBN HSALNG0076418 HSALNG0076417
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CUBN on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CUBN

Top Transcription factor binding sites by QIAGEN in the CUBN gene promoter:
  • FOXC1
  • FOXI1
  • FOXL1
  • FOXO3
  • FOXO3a
  • FOXO3b
  • HFH-3
  • Lhx3a
  • LHX3b
  • PPAR-gamma2

Genomic Locations for CUBN Gene

Genomic Locations for CUBN Gene
chr10:16,823,966-17,130,249
(GRCh38/hg38)
Size:
306,284 bases
Orientation:
Minus strand
chr10:16,865,963-17,171,830
(GRCh37/hg19)
Size:
305,868 bases
Orientation:
Minus strand

Genomic View for CUBN Gene

Genes around CUBN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CUBN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CUBN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CUBN Gene

Proteins for CUBN Gene

  • Protein details for CUBN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60494-CUBN_HUMAN
    Recommended name:
    Cubilin
    Protein Accession:
    O60494
    Secondary Accessions:
    • B0YIZ4
    • Q5VTA6
    • Q96RU9

    Protein attributes for CUBN Gene

    Size:
    3623 amino acids
    Molecular mass:
    398736 Da
    Quaternary structure:
    • Interacts with AMN (PubMed:14576052, PubMed:29402915, PubMed:20237569, PubMed:30523278). Component of the cubam complex composed of one CUBN trimer and one AMN chain (PubMed:30523278). The cubam complex can dimerize (By similarity). Interacts with LRP2 in a dual-receptor complex in a calcium-dependent manner. Found in a complex with PID1/PCLI1, LRP1 and CUBNI. Interacts with LRP1 and PID1/PCLI1.

    Three dimensional structures from OCA and Proteopedia for CUBN Gene

neXtProt entry for CUBN Gene

Post-translational modifications for CUBN Gene

  • The precursor is cleaved by a trans-Golgi proteinase furin, removing a propeptide.
  • N-glycosylated.
  • Glycosylation at Asn105, Asn428, Asn482, Asn711, Asn749, Asn781, Asn857, Asn957, Asn984, Asn1092, Asn1168, Asn1217, Asn1285, Asn1307, Asn1319, Asn1332, Asn1500, Asn1551, Asn1646, Asn1802, Asn1819, Asn1885, Asn2085, Asn2117, Asn2274, Asn2386, Asn2400, Asn2531, Asn2581, Asn2592, Asn2610, Asn2813, Asn2923, Asn2945, Asn3042, Asn3103, Asn3125, Asn3165, Asn3268, Asn3283, Asn3290, Asn3295, Asn3357, Asn3430, Asn3457, Asn3533, and Asn3576
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for CUBN Gene

No data available for DME Specific Peptides for CUBN Gene

Domains & Families for CUBN Gene

Gene Families for CUBN Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CUBN Gene

GenScript: Design optimal peptide antigens:
  • Intrinsic factor-vitamin B12 receptor (CUBN_HUMAN)
  • Cubilin (Intrinsic factor-cobalamin receptor) (Q5JQ33_HUMAN)
  • Intrinsic factor-vitamin B12 receptor (Q7LC53_HUMAN)
  • Intrinsic factor-vitamin B12 receptor (Q96RV0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60494

UniProtKB/Swiss-Prot:

CUBN_HUMAN :
  • The CUB domains 5 to 8 mediate binding to CBLIF and ALB. CUB domains 1 and 2 mediate interaction with LRP2.
Domain:
  • The CUB domains 5 to 8 mediate binding to CBLIF and ALB. CUB domains 1 and 2 mediate interaction with LRP2.
  • The cubam complex is composed of a 400 Angstrom long stem and a globular crown region. The stem region is probably formed by AMN and the CUBN N-terminal region, including the EGF-like domains. The crown is probably formed by the CUBN CUB domains.
genes like me logo Genes that share domains with CUBN: view

Function for CUBN Gene

Molecular function for CUBN Gene

UniProtKB/Swiss-Prot Function:
Endocytic receptor which plays a role in lipoprotein, vitamin and iron metabolism by facilitating their uptake (PubMed:9572993, PubMed:10371504, PubMed:11717447, PubMed:11606717, PubMed:14576052). Acts together with LRP2 to mediate endocytosis of high-density lipoproteins, GC, hemoglobin, ALB, TF and SCGB1A1. Acts together with AMN to mediate endocytosis of the CBLIF-cobalamin complex (PubMed:9572993, PubMed:14576052). Binds to ALB, MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1, APOA1, high density lipoprotein, and the CBLIF-cobalamin complex. Ligand binding requires calcium (PubMed:9572993). Serves as important transporter in several absorptive epithelia, including intestine, renal proximal tubules and embryonic yolk sac. May play an important role in the development of the peri-implantation embryo through internalization of APOA1 and cholesterol. Binds to LGALS3 at the maternal-fetal interface.
GENATLAS Biochemistry:
cobalamin binder-gastric intrinsic factor receptor,460kDa,cubilin,expressed in epithelium of intestine and kidney also high affinity apoprotein APO A-1 receptor facilitating endocytosis of high-density lipoprotein (HDC)

Phenotypes From GWAS Catalog for CUBN Gene

Gene Ontology (GO) - Molecular Function for CUBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 14576052
GO:0008144 drug binding ISS --
GO:0031419 cobalamin binding IEA --
GO:0038023 signaling receptor activity TAS 10080186
genes like me logo Genes that share ontologies with CUBN: view
genes like me logo Genes that share phenotypes with CUBN: view

Human Phenotype Ontology for CUBN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CUBN Gene

MGI Knock Outs for CUBN:
  • Cubn Cubn<tm1b(EUCOMM)Hmgu>
  • Cubn Cubn<tm1Sarg>

Animal Model Products

  • Taconic Biosciences Mouse Models for CUBN

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CUBN Gene

Localization for CUBN Gene

Subcellular locations from UniProtKB/Swiss-Prot for CUBN Gene

Apical cell membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Membrane, coated pit. Endosome. Lysosome membrane; Peripheral membrane protein. Note=Lacks a transmembrane domain and depends on interaction with AMN for location at the plasma membrane (PubMed:29402915, PubMed:30523278). Colocalizes with AMN and LRP2 in the endocytotic apparatus of epithelial cells (By similarity). {ECO:0000250 UniProtKB:O70244, ECO:0000269 PubMed:29402915, ECO:0000269 PubMed:30523278}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CUBN gene
Compartment Confidence
plasma membrane 5
extracellular 5
endosome 4
cytosol 4
lysosome 4
endoplasmic reticulum 3
golgi apparatus 3
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CUBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with CUBN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CUBN Gene

Pathways & Interactions for CUBN Gene

genes like me logo Genes that share pathways with CUBN: view

Gene Ontology (GO) - Biological Process for CUBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001894 tissue homeostasis NAS 11994745
GO:0006629 lipid metabolic process IEA --
GO:0006897 endocytosis IEA --
GO:0006898 receptor-mediated endocytosis NAS 11994745
GO:0008202 steroid metabolic process IEA --
genes like me logo Genes that share ontologies with CUBN: view

No data available for SIGNOR curated interactions for CUBN Gene

Drugs & Compounds for CUBN Gene

(13) Drugs for CUBN Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxocobalamin Approved Pharma Target, other 409
Cyanocobalamin Approved Nutra Transporter, substrate 410
Iron Approved, Experimental Pharma 1496
Calcium Approved Nutra 7884
Cobalt Approved, Experimental Pharma 198

(3) Additional Compounds for CUBN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CUBN: view

Transcripts for CUBN Gene

mRNA/cDNA for CUBN Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CUBN Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

ExUns: 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50a · 50b ^
SP1: - -
SP2: -
SP3: -
SP4:
SP5:
SP6:

ExUns: 51 ^ 52a · 52b ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64a · 64b ^ 65 ^ 66 ^ 67 ^ 68 ^ 69
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for CUBN Gene

GeneLoc Exon Structure for
CUBN

Expression for CUBN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CUBN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CUBN Gene

This gene is overexpressed in Kidney - Cortex (x17.2).

Protein differential expression in normal tissues from HIPED for CUBN Gene

This gene is overexpressed in Urine (55.1) and Kidney (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CUBN Gene



Protein tissue co-expression partners for CUBN Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CUBN

SOURCE GeneReport for Unigene cluster for CUBN Gene:

Hs.166206

mRNA Expression by UniProt/SwissProt for CUBN Gene:

O60494-CUBN_HUMAN
Tissue specificity: Detected in kidney cortex (at protein level) (PubMed:9572993). Expressed in kidney proximal tubule cells, placenta, visceral yolk-sac cells and in absorptive intestinal cells. Expressed in the epithelium of intestine and kidney.

Evidence on tissue expression from TISSUES for CUBN Gene

  • Kidney(4)
  • Intestine(2.5)
  • Urine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CUBN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Abdomen:
  • kidney
Limb:
  • femur
  • lower limb
  • thigh
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CUBN: view

Orthologs for CUBN Gene

This gene was present in the common ancestor of animals.

Orthologs for CUBN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CUBN 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CUBN 31 30
  • 85.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CUBN 31 30
  • 83.61 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cubn 17 31 30
  • 76.57 (n)
rat
(Rattus norvegicus)
Mammalia Cubn 30
  • 75.94 (n)
oppossum
(Monodelphis domestica)
Mammalia CUBN 31
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 58 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
chicken
(Gallus gallus)
Aves CUBN 31 30
  • 65.07 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cubn 30
  • 62.03 (n)
zebrafish
(Danio rerio)
Actinopterygii cubn 31 30
  • 58.58 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005526 30
  • 43.34 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32702 31 30
  • 42.66 (n)
ManyToMany
CG42255 31
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZC116.3 31 30
  • 41.9 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToOne
Species where no ortholog for CUBN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CUBN Gene

ENSEMBL:
Gene Tree for CUBN (if available)
TreeFam:
Gene Tree for CUBN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CUBN: view image

Paralogs for CUBN Gene

(34) SIMAP similar genes for CUBN Gene using alignment to 6 proteins:

  • CUBN_HUMAN
  • B0YIZ6_HUMAN
  • H7C480_HUMAN
  • Q5JQ33_HUMAN
  • Q7LC53_HUMAN
  • Q96RV0_HUMAN

Pseudogenes.org Pseudogenes for CUBN Gene

genes like me logo Genes that share paralogs with CUBN: view

Variants for CUBN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CUBN Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
567288 Uncertain Significance: Megaloblastic anemia due to inborn errors of metabolism 17,071,967(-) C/T MISSENSE_VARIANT
568981 Uncertain Significance: Megaloblastic anemia due to inborn errors of metabolism 17,085,708(-) T/C MISSENSE_VARIANT
569408 Pathogenic: Megaloblastic anemia due to inborn errors of metabolism 16,906,209(-) G/A NONSENSE
572384 Conflicting Interpretations: Megaloblastic anemia due to inborn errors of metabolism 17,127,827(-) A/G SPLICE_DONOR_VARIANT
572770 Uncertain Significance: Megaloblastic anemia due to inborn errors of metabolism 16,933,191(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CUBN Gene

Structural Variations from Database of Genomic Variants (DGV) for CUBN Gene

Variant ID Type Subtype PubMed ID
dgv966n54 CNV loss 21841781
dgv967n54 CNV loss 21841781
esv21978 CNV gain 19812545
esv22833 CNV loss 19812545
esv2677828 CNV deletion 23128226
esv3545964 CNV deletion 23714750
esv3578659 CNV loss 25503493
esv3578661 CNV loss 25503493
esv3622477 CNV gain 21293372
esv3622479 CNV loss 21293372
esv3622480 CNV loss 21293372
esv3891765 CNV gain 25118596
nsv1039697 CNV loss 25217958
nsv1045115 CNV gain 25217958
nsv1046088 CNV gain 25217958
nsv1069027 CNV deletion 25765185
nsv1137882 CNV deletion 24896259
nsv466758 CNV gain 19166990
nsv466759 CNV gain 19166990
nsv470924 CNV gain 18288195
nsv476210 CNV novel sequence insertion 20440878
nsv479026 CNV novel sequence insertion 20440878
nsv520521 CNV loss 19592680
nsv550020 CNV gain 21841781
nsv550021 CNV gain 21841781
nsv550022 CNV loss 21841781
nsv5932 CNV deletion 18451855
nsv5943 CNV insertion 18451855
nsv831800 CNV gain 17160897
nsv831801 CNV gain 17160897
nsv947752 CNV duplication 23825009

Variation tolerance for CUBN Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.00; 98.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CUBN Gene

Human Gene Mutation Database (HGMD)
CUBN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CUBN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CUBN Gene

Disorders for CUBN Gene

MalaCards: The human disease database

(18) MalaCards diseases for CUBN Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
megaloblastic anemia 1
  • mga1
3-methylglutaconic aciduria, type i
  • mgca1
megaloblastic anemia
  • imerslund-grasbeck syndrome
dent disease 1
  • nephrolithiasis, hypercalciuric, x-linked
fanconi syndrome
  • fanconi renotubular syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CUBN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CUBN_HUMAN
  • Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]: Due to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected. {ECO:0000269 PubMed:10080186, ECO:0000269 PubMed:10887099}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CUBN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CUBN: view

No data available for Genatlas for CUBN Gene

Publications for CUBN Gene

  1. The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region. (PMID: 9572993) Kozyraki R … Moestrup SK (Blood 1998) 2 3 4 23 54
  2. CUBN is a gene locus for albuminuria. (PMID: 21355061) Böger CA … Kao WH (Journal of the American Society of Nephrology : JASN 2011) 3 4 41 54
  3. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PMID: 19161160) Franke B … Blom HJ (Birth defects research. Part A, Clinical and molecular teratology 2009) 3 23 41 54
  4. Composite organization of the cobalamin binding and cubilin recognition sites of intrinsic factor. (PMID: 15736970) Fedosov SN … Petersen TE (Biochemistry 2005) 3 23 26 54
  5. The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. (PMID: 14576052) Fyfe JC … Moestrup SK (Blood 2004) 3 4 23 54

Products for CUBN Gene

  • Biorbyt antibodies for CUBN

Sources for CUBN Gene