CBLIF (Cobalamin Binding Intrinsic Factor)
Gene encoding intrinsic factor, essential for vitamin B12 absorption
Gene Information Card
| Symbol | CBLIF |
|---|---|
| Full Name | Cobalamin Binding Intrinsic Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000134827 |
| UniProt ID | P27352 |
| OMIM ID | 609342 |
| HGNC ID | 4268 |
| Aliases | IF, GIF, INF, TCN3 |
Description
The CBLIF gene encodes gastric intrinsic factor, a glycoprotein secreted by parietal cells of the stomach. Intrinsic factor binds dietary vitamin B12 (cobalamin) and facilitates its absorption in the terminal ileum via receptor-mediated endocytosis. Mutations in CBLIF cause congenital intrinsic factor deficiency, leading to vitamin B12 malabsorption and pernicious anemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pernicious anemia (congenital intrinsic factor deficiency) | Loss-of-function mutations in CBLIF impair intrinsic factor production, preventing B12 absorption and causing megaloblastic anemia. | OMIM #261000; ClinVar |
| Juvenile vitamin B12 deficiency | Biallelic CBLIF mutations lead to early-onset B12 deficiency with neurological and hematologic manifestations. | OMIM #261000; NCBI GeneReviews |
| Intrinsic factor deficiency | Homozygous or compound heterozygous CBLIF variants result in absent or dysfunctional intrinsic factor. | ClinVar; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 45.3 | High |
| Duodenum | 2.1 | Low |
| Small intestine | 1.5 | Low |
| Pancreas | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MKN7 (gastric cancer) | 12.4 | Moderate expression |
| KATO III (gastric cancer) | 8.7 | Moderate expression |
| HEK 293 (embryonic kidney) | 0.2 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.79+1G>A | Splice donor | Rare | Loss of function; congenital IF deficiency |
| c.68A>G (p.Glu23Gly) | Missense | Rare | Impaired cobalamin binding |
| c.1115_1116del (p.Arg372fs) | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most CBLIF mutations are loss-of-function, leading to absent or non-functional intrinsic factor and B12 malabsorption.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • extracellular space (GO:0005615) | • copper ion binding (GO:0005507) |
| • drug binding (GO:0008144) | • cobalamin metabolic process (GO:0009235) |
| • cobalamin transport (GO:0015889) | • L-ascorbic acid binding (GO:0031418) |
| • ATPase activity (GO:0042623) |
Pathways
• Vitamin B12 metabolism (Reactome: R-HSA-196741)
• Cobalamin (B12) transport and metabolism (KEGG: hsa00860)
Protein Summary
Intrinsic factor (UniProt P27352) is a 417-amino acid glycoprotein secreted by gastric parietal cells. It binds vitamin B12 with high affinity and is essential for its absorption in the ileum. The protein contains a cobalamin-binding domain and a receptor-binding region. Deficiency leads to pernicious anemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CBLIF Knockout HEK293 Cell Line | EDJ-KQ4711 | Human | 2694 | Details Get a Quote |
| CBLIF Knockout HeLa Cell Line | EDJ-KQ53341 | Human | 2694 | Details Get a Quote |
| CBLIF Knockout A-549 Cell Line | EDJ-KQ61821 | Human | 2694 | Details Get a Quote |
| CBLIF Knockout HCT 116 Cell Line | EDJ-KQ70308 | Human | 2694 | Details Get a Quote |
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