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Protein Coding Gene : Cubn cubilin

Primary Identifier  MGI:1931256 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  65969
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable cargo receptor activity; hemoglobin binding activity; and protein homodimerization activity. Acts upstream of or within several processes, including lipoprotein transport; receptor-mediated endocytosis; and response to bacterium. Located in several cellular components, including brush border; clathrin-coated pit; and cytoplasmic vesicle. Is active in microvillus membrane. Is expressed in several structures, including egg cylinder; embryo endoderm; genitourinary system; and midgut. Human ortholog(s) of this gene implicated in coronary artery disease. Orthologous to human CUBN (cubilin).
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. [provided by MGI curators]
  • synonyms:
  • AL022750,
  • AA408369,
  • MGD-MRK-34236,
  • expressed sequence AL022750,
  • MGI:106542,
  • DNA segment, Chr 2, Wayne State University 88, expressed,
  • cubilin,
  • intrinsic factor-cobalamin receptor,
  • D2Wsu88e,
  • expressed sequence AA408369,
  • MGI:2138751,
  • MGI:2139122,
  • Cubn

Features --> Cross References

Genome

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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