CBLIF (cobalamin binding intrinsic factor)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2694
Gene name Cobalamin binding intrinsic factor
Gene symbol CBLIF
Synonyms (NCBI Gene)
GIFIFIFMHINFTCN3
Chromosome 11
Chromosome location 11q12.1
Summary This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mut
SNPs SNP information provided by dbSNP.
9
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
SNP ID Visualize variation Clinical significance Consequence
rs35211634 T>C Risk-factor, benign Coding sequence variant, missense variant
rs121434322 G>A,T Likely-pathogenic, uncertain-significance Coding sequence variant, stop gained, missense variant
rs144916324 A>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs147785187 C>T Pathogenic Splice donor variant
rs765896727 TCAT>- Pathogenic Coding sequence variant, frameshift variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20237569, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IBA
GO:0005615 Component Extracellular space IDA 14695536
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609342 4268 ENSG00000134812
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P27352
Protein name Cobalamin binding intrinsic factor (Gastric intrinsic factor) (Intrinsic factor) (IF) (INF)
Protein function Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the CBLIF-cobalamin complex is internalized via receptor-mediated endocytosis.
PDB 2PMV , 3KQ4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01122 Cobalamin_bind 8 → 309 Eukaryotic cobalamin-binding protein Family
PF14478 DUF4430 340 → 416 Domain of unknown function (DUF4430) Domain
Tissue specificity TISSUE SPECIFICITY: Gastric mucosa.
Sequence
Sequence length 417
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Vitamin digestion and absorption
Cobalamin transport and metabolism 		  Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective GIF causes intrinsic factor deficiency
Defective AMN causes hereditary megaloblastic anemia 1
Defective CUBN causes hereditary megaloblastic anemia 1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute myeloid leukemia Pathogenic rs147785187 RCV005900945
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary intrinsic factor deficiency Pathogenic; Likely pathogenic rs1590860877, rs121434322, rs1590860794, rs1590854624, rs2495712049, rs796064508, rs1213702908, rs1866558759, rs147785187, rs765896727, rs1590859406 RCV000001815
RCV000001816
RCV000001817
RCV000001818
RCV002717322
View all (6 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (10)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANEMIA, PERNICIOUS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CBLIF-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (119)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 20939703
★★★★★
★☆☆☆☆
Found in Text Mining only
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 19129251
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 31583075
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 14576042 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 30664567
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Megaloblastic Anemia BEFREE 14695536, 16047053, 16343274
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Megaloblastic Anemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 17654682
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 29500107
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 29500107
★★★★★
★☆☆☆☆
Found in Text Mining only