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CBLIF (cobalamin binding intrinsic factor)
Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2694
Gene nameGene Name - the full gene name approved by the HGNC.
Cobalamin binding intrinsic factor
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CBLIF
SynonymsGene synonyms aliases
GIF, IF, IFMH, INF, TCN3
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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 information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20237569, 32296183
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IBA 21873635
GO:0005615 Component Extracellular space IDA 14695536
GO:0005768 Component Endosome IDA 8886952
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Sequence
Sequence length 417
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia, Megaloblastic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 21822266
Unknown
Disease name Disease term dbSNP ID References
Bipolar disorder Bipolar Disorder 25855618
Congenital deficiency of intrinsic factor Congenital deficiency of intrinsic factor 14695536, 22929189, 20408840, 15738392, 27577878, 25308559
Congenital intrinsic factor deficiency Congenital intrinsic factor deficiency
Intrinsic factor deficiency Intrinsic Factor Deficiency 14695536, 14576042, 22929189, 25308559, 20408840, 15738392, 19036097

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