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CBLIF (cobalamin binding intrinsic factor)

Identity

Alias (NCBI)GIF
IF
IFMH
INF
TCN3
HGNC (Hugo) CBLIF
HGNC Alias symbTCN3
IF
IFMH
INF
HGNC Previous nameGIF
HGNC Previous namegastric intrinsic factor (vitamin B synthesis)
 gastric intrinsic factor
LocusID (NCBI) 2694
Atlas_Id 57701
Location 11q12.1  [Link to chromosome band 11q12]
Location_base_pair Starts at 59829273 and ends at 59845499 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute



External links

 

Nomenclature
HGNC (Hugo)CBLIF   4268
Cards
Entrez_Gene (NCBI)CBLIF    cobalamin binding intrinsic factor
AliasesGIF; IF; IFMH; INF; 
TCN3
GeneCards (Weizmann)CBLIF
Ensembl hg19 (Hinxton)ENSG00000134812 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134812 [Gene_View]  ENSG00000134812 [Sequence]  chr11:59829273-59845499 [Contig_View]  CBLIF [Vega]
ICGC DataPortalENSG00000134812
TCGA cBioPortalCBLIF
AceView (NCBI)CBLIF
Genatlas (Paris)CBLIF
SOURCE (Princeton)CBLIF
Genetics Home Reference (NIH)CBLIF
Genomic and cartography
GoldenPath hg38 (UCSC)CBLIF  -     chr11:59829273-59845499 -  11q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CBLIF  -     11q12.1   [Description]    (hg19-Feb_2009)
GoldenPathCBLIF - 11q12.1 [CytoView hg19]  CBLIF - 11q12.1 [CytoView hg38]
ImmunoBaseENSG00000134812
Genome Data Viewer NCBICBLIF [Mapview hg19]  
OMIM261000   609342   
Gene and transcription
Genbank (Entrez)AK301290 AK301295 AK314275 BC037958 X76562
RefSeq transcript (Entrez)NM_005142
Consensus coding sequences : CCDS (NCBI)CBLIF
Gene ExpressionCBLIF [ NCBI-GEO ]   CBLIF [ EBI - ARRAY_EXPRESS ]   CBLIF [ SEEK ]   CBLIF [ MEM ]
Gene Expression Viewer (FireBrowse)CBLIF [ Firebrowse - Broad ]
GenevisibleExpression of CBLIF in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2694
GTEX Portal (Tissue expression)CBLIF
Human Protein AtlasENSG00000134812-CBLIF [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP27352   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP27352  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP27352
PhosPhoSitePlusP27352
Domaine pattern : Prosite (Expaxy)COBALAMIN_BINDING (PS00468)   
Domains : Interpro (EBI)Cbl-bd_prot    DUF4430   
Domain families : Pfam (Sanger)Cobalamin_bind (PF01122)    DUF4430 (PF14478)   
Domain families : Pfam (NCBI)pfam01122    pfam14478   
Conserved Domain (NCBI)CBLIF
PDB (RSDB)2CKT    2PMV    3KQ4   
PDB Europe2CKT    2PMV    3KQ4   
PDB (PDBSum)2CKT    2PMV    3KQ4   
PDB (IMB)2CKT    2PMV    3KQ4   
Structural Biology KnowledgeBase2CKT    2PMV    3KQ4   
SCOP (Structural Classification of Proteins)2CKT    2PMV    3KQ4   
CATH (Classification of proteins structures)2CKT    2PMV    3KQ4   
SuperfamilyP27352
AlphaFold pdb e-kbP27352   
Human Protein Atlas [tissue]ENSG00000134812-CBLIF [tissue]
Protein Interaction databases
DIP (DOE-UCLA)P27352
IntAct (EBI)P27352
BioGRIDCBLIF
STRING (EMBL)CBLIF
ZODIACCBLIF
Ontologies - Pathways
QuickGOP27352
Ontology : AmiGOprotein binding  extracellular region  extracellular space  extracellular space  endosome  endosome  microvillus  cobalt ion transport  cobalamin metabolic process  cobalamin transport  cobalamin transport  apical plasma membrane  cobalamin binding  cobalamin binding  lysosomal lumen  
Ontology : EGO-EBIprotein binding  extracellular region  extracellular space  extracellular space  endosome  endosome  microvillus  cobalt ion transport  cobalamin metabolic process  cobalamin transport  cobalamin transport  apical plasma membrane  cobalamin binding  cobalamin binding  lysosomal lumen  
NDEx NetworkCBLIF
Atlas of Cancer Signalling NetworkCBLIF
Wikipedia pathwaysCBLIF
Orthology - Evolution
OrthoDB2694
GeneTree (enSembl)ENSG00000134812
Phylogenetic Trees/Animal Genes : TreeFamCBLIF
Homologs : HomoloGeneCBLIF
Homology/Alignments : Family Browser (UCSC)CBLIF
Gene fusions - Rearrangements
Fusion : QuiverCBLIF
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCBLIF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CBLIF
dbVarCBLIF
ClinVarCBLIF
MonarchCBLIF
1000_GenomesCBLIF 
Exome Variant ServerCBLIF
GNOMAD BrowserENSG00000134812
Varsome BrowserCBLIF
ACMGCBLIF variants
VarityP27352
Genomic Variants (DGV)CBLIF [DGVbeta]
DECIPHERCBLIF [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCBLIF 
Mutations
ICGC Data PortalCBLIF 
TCGA Data PortalCBLIF 
Broad Tumor PortalCBLIF
OASIS PortalCBLIF [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCBLIF  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCBLIF
Mutations and Diseases : HGMDCBLIF
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCBLIF
DgiDB (Drug Gene Interaction Database)CBLIF
DoCM (Curated mutations)CBLIF
CIViC (Clinical Interpretations of Variants in Cancer)CBLIF
Cancer3DCBLIF
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM261000    609342   
Orphanet
DisGeNETCBLIF
MedgenCBLIF
Genetic Testing Registry CBLIF
NextProtP27352 [Medical]
GENETestsCBLIF
Target ValidationCBLIF
Huge Navigator CBLIF [HugePedia]
ClinGenCBLIF
Clinical trials, drugs, therapy
MyCancerGenomeCBLIF
Protein Interactions : CTDCBLIF
Pharm GKB GenePA28678
PharosP27352
Clinical trialCBLIF
Miscellaneous
canSAR (ICR)CBLIF
HarmonizomeCBLIF
DataMed IndexCBLIF
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCBLIF
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:02:23 CEST 2021

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