Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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 name Gene Name - the full gene name approved by the HGNC.	Cobalamin binding intrinsic factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CBLIF
Synonyms (NCBI Gene) Gene synonyms aliases	GIF, IF, IFMH, INF, TCN3
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q12.1
Summary Summary 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

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
rs1590854624	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1590859406	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1590860794	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590860877	C>T	Pathogenic	Splice acceptor variant

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
GO:0005615	Component	Extracellular space	IEA
GO:0005768	Component	Endosome	IDA	8886952
GO:0005902	Component	Microvillus	IDA	8886952
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006824	Process	Cobalt ion transport	IEA
GO:0015889	Process	Cobalamin transport	IBA
GO:0015889	Process	Cobalamin transport	IEA
GO:0015889	Process	Cobalamin transport	IMP	15738392
GO:0015889	Process	Cobalamin transport	TAS
GO:0016324	Component	Apical plasma membrane	IDA	8886952
GO:0031419	Function	Cobalamin binding	IBA
GO:0031419	Function	Cobalamin binding	IDA	14695536
GO:0031419	Function	Cobalamin binding	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0140104	Function	Molecular carrier activity	IEA
GO:0140355	Function	Cargo receptor ligand activity	EXP	17954916
GO:0140355	Function	Cargo receptor ligand activity	IEA

MIM	HGNC	e!Ensembl
609342	4268	ENSG00000134812

Protein

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

Tissue specificity

TISSUE SPECIFICITY: Gastric mucosa.

Sequence

MAWFALYLLSLLWATAGTSTQTQSSCSVPSAQEPLVNGIQVLMENSVTSSAYPNPSILIA
MNLAGAYNLKAQKLLTYQLMSSDNNDLTIGQLGLTIMALTSSCRDPGDKVSILQRQMENW
APSSPNAEASAFYGPSLAILALCQKNSEATLPIAVRFAKTLLANSSPFNVDTGAMATLAL
TCMYNKIPVGSEEGYRSLFGQVLKDIVEKISMKIKDNGIIGDIYSTGLAMQALSVTPEPS
KKEWNCKKTTDMILNEIKQGKFHNPMSIAQILPSLKGKTYLDVPQVTCSPDHEVQPTLPS
NPGPGPTSASNITVIYTINNQLRGVELLFNETINVSVKSGSVLLVVLEEAQRKNPMFKFE
TTMTSWGLVVSSINNIAENVNHKTYWQFLSGVTPLNEGVADYIPFNHEHITANFTQY

Sequence length

417

Interactions

View interactions

	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

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Intrinsic Factor Deficiency	hereditary intrinsic factor deficiency	N/A	N/A	GenCC

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anemia	Associate	14576042
Coronary Artery Disease	Associate	35263363
Gastritis	Associate	21567190
Intrinsic Factor Deficiency	Associate	14576042, 22929189
Methylmalonic Aciduria and Homocystinuria CblF Type	Associate	14576042, 15738392, 33172407
Neoplastic Syndromes Hereditary	Associate	33172407
Polycythemia	Associate	26485402
Pulmonary Disease Chronic Obstructive	Associate	35263363
Stomach Diseases	Inhibit	26485402

CBLIF (cobalamin binding intrinsic factor)