ENSG00000107611
Homo sapiens | |
Features
| Gene ID: | ENSG00000107611 | | | | | Biological name : | CUBN | | | | | Synonyms : | cubilin / CUBN / O60494 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 10 | | Strand: | -1 | | Band: | p13 | | Gene start: | 16823964 | | Gene end: | 17129831 | | | | | Corresponding Affymetrix probe sets: | 206775_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000391830
Ensembl peptide - ENSP00000415970
Ensembl peptide - ENSP00000367054
Ensembl peptide - ENSP00000367064
NCBI entrez gene - 8029
See in Manteia.
OMIM - 602997
RefSeq - NM_001081
RefSeq - XM_011519708
RefSeq Peptide - NP_001072
swissprot - B0YIZ6
swissprot - O60494
swissprot - Q5JQ33
swissprot - H7C480
Ensembl - ENSG00000107611
| | | | | Related genetic diseases (OMIM): | 261100 - Megaloblastic anemia-1, Finnish type, 261100 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000093 | Proteinuria | |
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| | HP:0000726 | Dementia | |
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| | HP:0001289 | Confusion | "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] |
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| | HP:0001889 | Megaloblastic anemia | |
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| | HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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| | HP:0003474 | Sensory impairment | |
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| | HP:0011463 | Childhood onset | "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
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| | HP:0200118 | Malabsorption of Vitamin B12 | |
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Interacting proteins (from Reactome)
| ENSG00000118137 | APOA1 / P02647 / apolipoprotein A1 | / complex / reaction | | ENSG00000081479 | LRP2 / P98164 / LDL receptor related protein 2 | / reaction | | ENSG00000134812 | GIF / P27352 / gastric intrinsic factor | / complex / reaction | | ENSG00000145321 | GC / P02774 / GC, vitamin D binding protein | / complex / reaction | | ENSG00000166126 | AMN / Q9BXJ7 / amnion associated transmembrane protein | / complex |
1 s.
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