Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2694
MIM: 609342
HGNC: 4268
Ensembl: ENSG00000134812
Variants:
dbSNP: 2694
ClinVar: 2694
TCGA: ENSG00000134812
COSMIC: CBLIF
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000134812 | ENST00000257248 | P27352 |
| ENSG00000134812 | ENST00000525058 | E9PM21 |
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28742214 | 2018 | Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defects. | 1 |
| 29368379 | 2018 | Pancytopenia and megaloblastic erythropoiesis reveal a novel GIF mutation. | 1 |
| 28742214 | 2018 | Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defects. | 1 |
| 29368379 | 2018 | Pancytopenia and megaloblastic erythropoiesis reveal a novel GIF mutation. | 1 |
| 26485402 | 2015 | Transcriptome Reveals 1400-Fold Upregulation of APOA4-APOC3 and 1100-Fold Downregulation of GIF in the Patients with Polycythemia-Induced Gastric Injury. | 0 |
| 26485402 | 2015 | Transcriptome Reveals 1400-Fold Upregulation of APOA4-APOC3 and 1100-Fold Downregulation of GIF in the Patients with Polycythemia-Induced Gastric Injury. | 0 |
| 23402911 | 2013 | Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant. | 7 |
| 23402911 | 2013 | Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant. | 7 |
| 22556038 | 2012 | Acute lymphoblastic leukemia and vitamin B12 deficiency secondary to a gastric intrinsic factor gene mutation. | 0 |
| 22929189 | 2012 | Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. | 21 |
| 22556038 | 2012 | Acute lymphoblastic leukemia and vitamin B12 deficiency secondary to a gastric intrinsic factor gene mutation. | 0 |
| 22929189 | 2012 | Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. | 21 |
| 20237569 | 2010 | Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes. | 33 |
| 20615890 | 2010 | A candidate gene study of folate-associated one carbon metabolism genes and colorectal cancer risk. | 21 |
| 20237569 | 2010 | Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes. | 33 |
Citation
Dessen P
CBLIF (cobalamin binding intrinsic factor)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/57701
