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F12 (coagulation factor XII)

Identity

Alias_namescoagulation factor XII (Hageman factor)
Other aliasHAE3
HAEX
HAF
HGNC (Hugo) F12
LocusID (NCBI) 2161
Atlas_Id 55547
Location 5q35.3  [Link to chromosome band 5q35]
Location_base_pair Starts at 177402138 and ends at 177409576 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LMAN2 (5q35.3) / F12 (5q35.3)

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)F12   3530
LRG (Locus Reference Genomic)LRG_145
Cards
Entrez_Gene (NCBI)F12  2161  coagulation factor XII
AliasesHAE3; HAEX; HAF
GeneCards (Weizmann)F12
Ensembl hg19 (Hinxton)ENSG00000131187 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131187 [Gene_View]  chr5:177402138-177409576 [Contig_View]  F12 [Vega]
ICGC DataPortalENSG00000131187
TCGA cBioPortalF12
AceView (NCBI)F12
Genatlas (Paris)F12
WikiGenes2161
SOURCE (Princeton)F12
Genetics Home Reference (NIH)F12
Genomic and cartography
GoldenPath hg38 (UCSC)F12  -     chr5:177402138-177409576 -  5q35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)F12  -     5q35.3   [Description]    (hg19-Feb_2009)
EnsemblF12 - 5q35.3 [CytoView hg19]  F12 - 5q35.3 [CytoView hg38]
Mapping of homologs : NCBIF12 [Mapview hg19]  F12 [Mapview hg38]
OMIM234000   610618   610619   
Gene and transcription
Genbank (Entrez)AB095845 BC012390 BC168381 BE139501 BT007350
RefSeq transcript (Entrez)NM_000505
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)F12
Cluster EST : UnigeneHs.1321 [ NCBI ]
CGAP (NCI)Hs.1321
Alternative Splicing GalleryENSG00000131187
Gene ExpressionF12 [ NCBI-GEO ]   F12 [ EBI - ARRAY_EXPRESS ]   F12 [ SEEK ]   F12 [ MEM ]
Gene Expression Viewer (FireBrowse)F12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2161
GTEX Portal (Tissue expression)F12
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00748   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP00748  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00748
Splice isoforms : SwissVarP00748
Catalytic activity : Enzyme3.4.21.38 [ Enzyme-Expasy ]   3.4.21.383.4.21.38 [ IntEnz-EBI ]   3.4.21.38 [ BRENDA ]   3.4.21.38 [ KEGG ]   
PhosPhoSitePlusP00748
Domaine pattern : Prosite (Expaxy)EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    FN1_1 (PS01253)    FN1_2 (PS51091)    FN2_1 (PS00023)    FN2_2 (PS51092)    KRINGLE_1 (PS00021)    KRINGLE_2 (PS50070)    TRYPSIN_DOM (PS50240)    TRYPSIN_HIS (PS00134)    TRYPSIN_SER (PS00135)   
Domains : Interpro (EBI)Coagulation_fac_XIIa/HGFA    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    Fibronectin_type1    FN_type2_col-bd    Kringle    Kringle-like    Kringle_CS    Peptidase_S1_PA    Peptidase_S1A    Trypsin_dom    TRYPSIN_HIS    TRYPSIN_SER   
Domain families : Pfam (Sanger)EGF (PF00008)    fn1 (PF00039)    fn2 (PF00040)    Kringle (PF00051)    Trypsin (PF00089)   
Domain families : Pfam (NCBI)pfam00008    pfam00039    pfam00040    pfam00051    pfam00089   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  FN1 (SM00058)  FN2 (SM00059)  KR (SM00130)  Tryp_SPc (SM00020)  
Conserved Domain (NCBI)F12
DMDM Disease mutations2161
Blocks (Seattle)F12
PDB (SRS)4BDW    4BDX    4XDE    4XE4   
PDB (PDBSum)4BDW    4BDX    4XDE    4XE4   
PDB (IMB)4BDW    4BDX    4XDE    4XE4   
PDB (RSDB)4BDW    4BDX    4XDE    4XE4   
Structural Biology KnowledgeBase4BDW    4BDX    4XDE    4XE4   
SCOP (Structural Classification of Proteins)4BDW    4BDX    4XDE    4XE4   
CATH (Classification of proteins structures)4BDW    4BDX    4XDE    4XE4   
SuperfamilyP00748
Human Protein AtlasENSG00000131187
Peptide AtlasP00748
HPRD01992
IPIIPI00019581   IPI00815953   IPI00815871   IPI00816036   IPI00815965   
Protein Interaction databases
DIP (DOE-UCLA)P00748
IntAct (EBI)P00748
FunCoupENSG00000131187
BioGRIDF12
STRING (EMBL)F12
ZODIACF12
Ontologies - Pathways
QuickGOP00748
Ontology : AmiGOplasma kallikrein-kinin cascade  Factor XII activation  serine-type endopeptidase activity  serine-type endopeptidase activity  calcium ion binding  protein binding  extracellular region  extracellular space  plasma membrane  blood coagulation, intrinsic pathway  blood coagulation, intrinsic pathway  positive regulation of plasminogen activation  protein processing  protein autoprocessing  positive regulation of blood coagulation  zymogen activation  fibrinolysis  innate immune response  misfolded protein binding  response to misfolded protein  positive regulation of fibrinolysis  extracellular exosome  
Ontology : EGO-EBIplasma kallikrein-kinin cascade  Factor XII activation  serine-type endopeptidase activity  serine-type endopeptidase activity  calcium ion binding  protein binding  extracellular region  extracellular space  plasma membrane  blood coagulation, intrinsic pathway  blood coagulation, intrinsic pathway  positive regulation of plasminogen activation  protein processing  protein autoprocessing  positive regulation of blood coagulation  zymogen activation  fibrinolysis  innate immune response  misfolded protein binding  response to misfolded protein  positive regulation of fibrinolysis  extracellular exosome  
Pathways : BIOCARTAIntrinsic Prothrombin Activation Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades   
NDEx NetworkF12
Atlas of Cancer Signalling NetworkF12
Wikipedia pathwaysF12
Orthology - Evolution
OrthoDB2161
GeneTree (enSembl)ENSG00000131187
Phylogenetic Trees/Animal Genes : TreeFamF12
HOVERGENP00748
HOGENOMP00748
Homologs : HomoloGeneF12
Homology/Alignments : Family Browser (UCSC)F12
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerF12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)F12
dbVarF12
ClinVarF12
1000_GenomesF12 
Exome Variant ServerF12
ExAC (Exome Aggregation Consortium)F12 (select the gene name)
Genetic variants : HAPMAP2161
Genomic Variants (DGV)F12 [DGVbeta]
DECIPHERF12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisF12 
Mutations
ICGC Data PortalF12 
TCGA Data PortalF12 
Broad Tumor PortalF12
OASIS PortalF12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICF12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDF12
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 F12
DgiDB (Drug Gene Interaction Database)F12
DoCM (Curated mutations)F12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)F12 (select a term)
intoGenF12
Cancer3DF12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM234000    610618    610619   
Orphanet829    14627   
MedgenF12
Genetic Testing Registry F12
NextProtP00748 [Medical]
TSGene2161
GENETestsF12
Target ValidationF12
Huge Navigator F12 [HugePedia]
snp3D : Map Gene to Disease2161
BioCentury BCIQF12
ClinGenF12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2161
Chemical/Pharm GKB GenePA161
Clinical trialF12
Miscellaneous
canSAR (ICR)F12 (select the gene name)
Probes
Litterature
PubMed179 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineF12
EVEXF12
GoPubMedF12
iHOPF12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:33:07 CEST 2017

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