Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MCFD2 (multiple coagulation factor deficiency 2)

Identity

Alias_symbol (synonym)F5F8D
LMAN1IP
SDNSF
Other aliasF5F8D2
HGNC (Hugo) MCFD2
LocusID (NCBI) 90411
Atlas_Id 68845
Location 2p21  [Link to chromosome band 2p21]
Location_base_pair Starts at 46901870 and ends at 46915868 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
JAZF1 (7p15.2) / MCFD2 (2p21)MCFD2 (2p21) / CD37 (19q13.33)MCFD2 (2p21) / SRBD1 (2p21)

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MCFD2   18451
LRG (Locus Reference Genomic)LRG_566
Cards
Entrez_Gene (NCBI)MCFD2  90411  multiple coagulation factor deficiency 2
AliasesF5F8D; F5F8D2; LMAN1IP; SDNSF
GeneCards (Weizmann)MCFD2
Ensembl hg19 (Hinxton)ENSG00000180398 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180398 [Gene_View]  chr2:46901870-46915868 [Contig_View]  MCFD2 [Vega]
ICGC DataPortalENSG00000180398
TCGA cBioPortalMCFD2
AceView (NCBI)MCFD2
Genatlas (Paris)MCFD2
WikiGenes90411
SOURCE (Princeton)MCFD2
Genetics Home Reference (NIH)MCFD2
Genomic and cartography
GoldenPath hg38 (UCSC)MCFD2  -     chr2:46901870-46915868 -  2p21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MCFD2  -     2p21   [Description]    (hg19-Feb_2009)
EnsemblMCFD2 - 2p21 [CytoView hg19]  MCFD2 - 2p21 [CytoView hg38]
Mapping of homologs : NCBIMCFD2 [Mapview hg19]  MCFD2 [Mapview hg38]
OMIM607788   613625   
Gene and transcription
Genbank (Entrez)AF475284 AF537214 AI079820 AI371370 AK095006
RefSeq transcript (Entrez)NM_001171506 NM_001171507 NM_001171508 NM_001171509 NM_001171510 NM_001171511 NM_139279
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MCFD2
Cluster EST : UnigeneHs.662152 [ NCBI ]
CGAP (NCI)Hs.662152
Alternative Splicing GalleryENSG00000180398
Gene ExpressionMCFD2 [ NCBI-GEO ]   MCFD2 [ EBI - ARRAY_EXPRESS ]   MCFD2 [ SEEK ]   MCFD2 [ MEM ]
Gene Expression Viewer (FireBrowse)MCFD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)90411
GTEX Portal (Tissue expression)MCFD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NI22   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NI22  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NI22
Splice isoforms : SwissVarQ8NI22
PhosPhoSitePlusQ8NI22
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam13499   
Conserved Domain (NCBI)MCFD2
DMDM Disease mutations90411
Blocks (Seattle)MCFD2
PDB (SRS)2VRG    3A4U    3LCP    3WHT    3WHU    3WNX    4YGB    4YGC    4YGD    4YGE   
PDB (PDBSum)2VRG    3A4U    3LCP    3WHT    3WHU    3WNX    4YGB    4YGC    4YGD    4YGE   
PDB (IMB)2VRG    3A4U    3LCP    3WHT    3WHU    3WNX    4YGB    4YGC    4YGD    4YGE   
PDB (RSDB)2VRG    3A4U    3LCP    3WHT    3WHU    3WNX    4YGB    4YGC    4YGD    4YGE   
Structural Biology KnowledgeBase2VRG    3A4U    3LCP    3WHT    3WHU    3WNX    4YGB    4YGC    4YGD    4YGE   
SCOP (Structural Classification of Proteins)2VRG    3A4U    3LCP    3WHT    3WHU    3WNX    4YGB    4YGC    4YGD    4YGE   
CATH (Classification of proteins structures)2VRG    3A4U    3LCP    3WHT    3WHU    3WNX    4YGB    4YGC    4YGD    4YGE   
SuperfamilyQ8NI22
Human Protein AtlasENSG00000180398
Peptide AtlasQ8NI22
HPRD09693
IPIIPI00328680   IPI00955035   IPI00917993   IPI00916077   IPI00916418   
Protein Interaction databases
DIP (DOE-UCLA)Q8NI22
IntAct (EBI)Q8NI22
FunCoupENSG00000180398
BioGRIDMCFD2
STRING (EMBL)MCFD2
ZODIACMCFD2
Ontologies - Pathways
QuickGOQ8NI22
Ontology : AmiGOGolgi membrane  calcium ion binding  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  ER to Golgi vesicle-mediated transport  ER to Golgi transport vesicle membrane  protein transport  protein N-linked glycosylation via asparagine  endoplasmic reticulum-Golgi intermediate compartment membrane  COPII vesicle coating  
Ontology : EGO-EBIGolgi membrane  calcium ion binding  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  ER to Golgi vesicle-mediated transport  ER to Golgi transport vesicle membrane  protein transport  protein N-linked glycosylation via asparagine  endoplasmic reticulum-Golgi intermediate compartment membrane  COPII vesicle coating  
NDEx NetworkMCFD2
Atlas of Cancer Signalling NetworkMCFD2
Wikipedia pathwaysMCFD2
Orthology - Evolution
OrthoDB90411
GeneTree (enSembl)ENSG00000180398
Phylogenetic Trees/Animal Genes : TreeFamMCFD2
HOVERGENQ8NI22
HOGENOMQ8NI22
Homologs : HomoloGeneMCFD2
Homology/Alignments : Family Browser (UCSC)MCFD2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMCFD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MCFD2
dbVarMCFD2
ClinVarMCFD2
1000_GenomesMCFD2 
Exome Variant ServerMCFD2
ExAC (Exome Aggregation Consortium)MCFD2 (select the gene name)
Genetic variants : HAPMAP90411
Genomic Variants (DGV)MCFD2 [DGVbeta]
DECIPHERMCFD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMCFD2 
Mutations
ICGC Data PortalMCFD2 
TCGA Data PortalMCFD2 
Broad Tumor PortalMCFD2
OASIS PortalMCFD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMCFD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMCFD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MCFD2
DgiDB (Drug Gene Interaction Database)MCFD2
DoCM (Curated mutations)MCFD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MCFD2 (select a term)
intoGenMCFD2
Cancer3DMCFD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607788    613625   
Orphanet10405   
MedgenMCFD2
Genetic Testing Registry MCFD2
NextProtQ8NI22 [Medical]
TSGene90411
GENETestsMCFD2
Target ValidationMCFD2
Huge Navigator MCFD2 [HugePedia]
snp3D : Map Gene to Disease90411
BioCentury BCIQMCFD2
ClinGenMCFD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD90411
Chemical/Pharm GKB GenePA134925788
Clinical trialMCFD2
Miscellaneous
canSAR (ICR)MCFD2 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMCFD2
EVEXMCFD2
GoPubMedMCFD2
iHOPMCFD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:27:03 CEST 2017

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