1. Gene
  2. CUBN - cubilin Gene

CUBN - cubilin Gene

Homo sapiens

Also known as IGS; IFCR; IGS1; MGA1; gp280

Gene ID: 8029 | Gene type: protein coding

About CUBN

Cytogenetic location: 10p13 Genomic coordinates (GRCh38): 10:16,823,966-17,129,811 (from NCBI)

This gene has 7 transcripts (splice variants), 201 orthologues, 35 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 65.4) and small intestine (RPKM 9.4).

Summary

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]

CUBN Products(1)

mRNA Protein Name
NM_001081.4 NP_001072.2 cubilin precursor

CUBN Protein Structure

EGF

EGF: EGF-like domain (136 - 165)

EGF_CA

EGF_CA: Calcium-binding EGF domain (170 - 204)

EGF_CA

EGF_CA: Calcium-binding EGF domain (263 - 297)

EGF_CA

EGF_CA: Calcium-binding EGF domain (305 - 347)

EGF_3

EGF_3: EGF domain (353 - 387)

EGF

EGF: EGF-like domain (399 - 426)

EGF

EGF: EGF-like domain (436 - 464)

CUB

CUB: CUB domain (474 - 582)

CUB

CUB: CUB domain (590 - 699)

CUB

CUB: CUB domain (708 - 813)

CUB

CUB: CUB domain (817 - 925)

CUB

CUB: CUB domain (932 - 1039)

CUB

CUB: CUB domain (1048 - 1157)

CUB

CUB: CUB domain (1165 - 1274)

CUB

CUB: CUB domain (1278 - 1385)

CUB

CUB: CUB domain (1391 - 1502)

CUB

CUB: CUB domain (1510 - 1616)

CUB

CUB: CUB domain (1620 - 1729)

CUB

CUB: CUB domain (1738 - 1847)

CUB

CUB: CUB domain (1856 - 1958)

CUB

CUB: CUB domain (1988 - 2088)

CUB

CUB: CUB domain (2092 - 2210)

CUB

CUB: CUB domain (2217 - 2331)

CUB

CUB: CUB domain (2336 - 2445)

CUB

CUB: CUB domain (2452 - 2562)

CUB

CUB: CUB domain (2570 - 2684)

CUB

CUB: CUB domain (2689 - 2797)

CUB

CUB: CUB domain (2805 - 2916)

CUB

CUB: CUB domain (2920 - 3032)

CUB

CUB: CUB domain (3037 - 3147)

CUB

CUB: CUB domain (3157 - 3271)

CUB

CUB: CUB domain (3278 - 3380)

CUB

CUB: CUB domain (3395 - 3502)

CUB

CUB: CUB domain (3511 - 3620)

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  • 3623 a.a.
Protein Preferred Names Protein Names

cubilin

460 kDa receptor

Related Diseases

Diseases Alias
Imerslund-Grasbeck Syndrome 1

Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria

IGS1

Megaloblastic Anemia, Finnish Type

Mga1

Enterocyte Cobalamin Malabsorption

Imerslund-Grasbeck Syndrome Type 1

Megaloblastic Anemia, 1

Enterocyte Intrinsic Factor Receptor, Defect Of

Defect Of Enterocyte Intrinsic Factor Receptor

Megaloblastic Anemia 1

Proteinuria, Chronic Benign

PROCHOB

Megaloblastic Anemia

Imerslund-Grasbeck Syndrome

Igs

Defect Of Enterocyte Intrinsic Factor Receptor

Enterocyte Cobalamin Malabsorption

Familial Megaloblastic Anemia

Megaloblastic Anemia 1

Selective Cobalamin Malabsorption With Proteinuria

Imerslund-Gräsbeck Syndrome

Anemia, Megaloblastic

Grasbeck-Imerslund Syndrome

Megaloblastic Anaemia

Mga1 Norwegian Type

Recessive Hereditary Megaloblastic Anaemia 1

Recessive Hereditary Megaloblastic Anemia 1

Rh-Mga1

Gräsbeck-Imerslund Disease

Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria

Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12

Anemia Megaloblastic

Megaloblastic Anemia Due To Inborn Errors Of Metabolism

3-@Methylglutaconic Aciduria, Type I

Dent Disease 1

Dent Disease

Dent'S Disease

Dent Disease 2

Dent Disease Type 1

DENT1

Urolithiasis, Hypercalciuric, X-Linked

Nephrolithiasis 2

Nphl2

Dent Syndrome

Dents Disease

Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis

Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones

X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets

X-Linked Recessive Nephrolithiasis

Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones

Nephrolithiasis, Hypercalciuric, X-Linked

Nephrolithiasis-Hypercalciuria X-Linked Recessive

Nephrolithiasis, X-Linked Recessive

Dent Disease, Type 1

Vitamin B12 Deficiency

Cobalamin Deficiency

Hypocobalaminemia

Vitamin B 12 Deficiency

Cyanocobalamin Deficiency

Deficiency Of Vitamin B12

Cystinosis

Cystine Storage Disease

Cystine Diathesis

Cystine Disease

Cystinoses

Protein Defect Of Cystin Transport

Cystin Transport, Protein Defect Of

Nephropathic Cystinosis

Protein Defect Of Cystine Transport

Donnai-Barrow Syndrome

Faciooculoacousticorenal Syndrome

Dbs/Foar Syndrome

Foar Syndrome

Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome

Facio-Oculo-Acoustico-Renal Syndrome

Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria

Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome

Holmes-Schepens Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness

DBS

Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria

Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis

Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss

Donnai Barrow Syndrome

Fanconi Syndrome

Infantile Nephropathic Cystinosis

Adult Fanconi Syndrome

Congenital Fanconi Syndrome

De Toni-Fanconi Syndrome

Fanconi-De Toni Syndrome

Lignac-Fanconi Syndrome

Fanconi Renotubular Syndrome

Primary Fanconi Renotubular Syndrome

De Toni-Debre-Fanconi Syndrome

Adult Fanconi Anemia

Detoni Fanconi Syndrome

Fanconi-De-Toni Syndrome

Primary Fanconi Syndrome

Detoni-Debre-Fanconi Syndrome

Primary Fanconi Renal Syndrome

Fanconi Anemia

Cystinosis, Infantile Nephropathic

Fanconi-Bickel Syndrome

Renal Fanconi Syndrome

Lowe-Bickel Syndrome

Fanconi-Like Syndrome

Fanconi Like Syndrome

Congenital Intrinsic Factor Deficiency

Hereditary Intrinsic Factor Deficiency

Intrinsic Factor Deficiency

Congenital Pernicious Anemia

Gastric Intrinsic Factor Deficiency

Hereditary Juvenile Megaloblastic Anemia Due To Intrinsic Factor Deficiency

Ifd

Intrinsic Factor Deficiency, Congenital, Susceptibility To

Congenital Deficiency Of Intrinsic Factor

Megaloblastic Anemia Due To Inborn Errors Of Metabolism

Chylomicron Retention Disease

CMRD

Anderson Disease

Lipid Transport Defect Of Intestine

Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells

Andd

Anderson Syndrome

Crd

Andersons Disease

Malabsorption Syndrome

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Vitamin Metabolic Disorder
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Gamma Heavy Chain Disease

Franklin Disease

Franklin'S Disease

Gamma Heavy Chain Deposition Disease

Igg Heavy Chain Disease

Gamma-Heavy Chain Disease

Gamma-Hcd

Gamma-Chain Disease

Kidney Disease

Renal Failure

Kidney Failure

Kidney Diseases

Nephropathy

Abnormality Of The Kidney

Impaired Renal Function Disease

Renal Anomaly

Kidney Dysfunction

Renal Disease

Nephropathies

Renal Failure Adverse Event

Abnormal Renal Function

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Microphthalmia, Isolated 5

Isolated Microphthalmia 5

MCOP5

Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen

Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome

Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disc Drusen

Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome

Microphthalmia, Isolated, 5

Microphthalmia Mfrp-Related

Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disk Drusen

Microphthalmia, Isolated, Type 5

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Tropical Sprue

Tropical Steatorrhea

Tropical Enteropathy

Sprue, Tropical

Sprue - Tropical

Idiopathic Tropical Malabsorption Syndrome

Tropical Steatorrhoea

Tropical Diarrhoea

Ts - [Tropical Sprue]

Psilosis

Sprue Nos

Lowe Oculocerebrorenal Syndrome

Lowe Syndrome

Oculocerebrorenal Syndrome

OCRL

Oculocerebrorenal Syndrome Of Lowe

Ocrl1

Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency

Lowe Disease

Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency

Cerebrooculorenal Syndrome

Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency

Lowe Oculo-Cerebro-Renal Dystrophy

Lowe Oculo-Cerebro-Renal Syndrome

Lowe Oculocerebrorenal Dystrophy

Low

Chromosome 11p Deletion Syndrome

Oculocerebrorenal Dystrophy

Cerebro-Oculorenal Dystrophy

Ocrl1 - [Oculocerebrorenal Syndrome]

Lowe-Terrey-Maclachlan Syndrome

Renal-Oculocerebrodystrophy

Hypophosphatemic Rickets, X-Linked Recessive

Hypophosphatemic Rickets

X-Linked Recessive Hypophosphatemic Rickets

XLRHR

Hypophosphatemic Rickets Disorders

Rickets Hypophosphatemic

Rickets, Hypophosphatemic, X-Linked Recessive

Familial Hypophosphatemic Rickets

Nanophthalmos

Nanophthalmia

Methylmalonic Acidemia

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia

Alport Syndrome

Hereditary Nephritis

Alport Syndrome, X-Linked

Hemorrhagic Hereditary Nephritis

Congenital Hereditary Hematuria

Hemorrhagic Familial Nephritis

Familial Nephritis

Thin Basement Membrane Disease

Thin Basement Membrane Nephropathy

Hematuria-Nephropathy-Deafness Syndrome

Hematuric Hereditary Nephritis

Hereditary Familial Congenital Hemorrhagic Nephritis

Hereditary Hematuria Syndrome

Hereditary Interstitial Pyelonephritis

Alport Deafness-Nephropathy

Alport Hearing Loss-Nephropathy

Alports Syndrome

Nephritis, Hereditary

Myeloma, Multiple

Multiple Myeloma

Plasma Cell Myeloma

Kahler Disease

Myelomatosis

Medullary Plasmacytoma

Multiple Myeloma, Resistance To

Myeloma

Plasma Cell Dyscrasia

Kahler'S Disease

Multiple Myeloma, Susceptibility To

Myeloma - Multiple

Kahler-Bozzolo Disease

Plasma Cell Myelomas

MM

Plasma Cell Neoplasm

Primary Systemic Amyloidosis

Primary Amyloidosis

Immunoglobulin Deposition Disease

Plasmacytic Myeloma

Multiple Myelomata

Multiple Myeloma Nos

Multiple Myeloma Without Mention Of Remission

Monostotic Plasma Cell Myeloma

Mm - [Multiple Myeloma]

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus CUBN VGNC VGNC:27828
Mus musculus CUBN MGD MGI:1931256
Macaca mulatta CUBN VGNC VGNC:82132
Rattus norvegicus CUBN RGD RGD:68355
Felis catus CUBN VGNC VGNC:61279
Canis familiaris CUBN VGNC VGNC:39725