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F8A2 Gene

protein-coding   GIFtS: 35
GCID: GC0XP154611

Coagulation Factor VIII-Associated 2

(Previous name: coagulation factor VIII-associated (intronic transcript)...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Coagulation Factor VIII-Associated 21 2
Coagulation Factor VIII-Associated (Intronic Transcript) 21 2
CpG Island Protein2 3
Factor VIII Intron 22 Protein2
F8A3

External Ids:    HGNC: 318491   Entrez Gene: 4743832   Ensembl: ENSG000001984447   UniProtKB: P236103   

Export aliases for F8A2 gene to outside databases

Previous GC identifers: GC00U917958 GC0XU900554 GC0XP154264


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for F8A2 Gene:
This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and
twice closer to the Xq telomere. This record represents the middle copy. Although its function is unknown, the
observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene
is transcribed abundantly in a wide variety of cell types. (provided by RefSeq, Jul 2008)

GeneCards Summary for F8A2 Gene:
F8A2 (coagulation factor VIII-associated 2) is a protein-coding gene. Diseases associated with F8A2 include severe hemophilia a, and hemophilia. An important paralog of this gene is F8A3.

UniProtKB/Swiss-Prot: F8I2_HUMAN, P23610
Function: Not known. Possible housekeeping role




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the F8A2 gene promoter:
         CREB   Pax-5   deltaCREB   Olf-1   AP-4   En-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for F8A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat F8A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

F8A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F8A2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP154611:  view genomic region     (about GC identifiers)

Start:
154,611,749 bp from pter      End:
154,613,449 bp from pter
Size:
1,701 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: F8I2_HUMAN, P23610 (See protein sequence)
Recommended Name: Factor VIII intron 22 protein  
Size: 371 amino acids; 39103 Da
Sequence caution: Sequence=AAA35713.1; Type=Frameshift; Positions=231, 257, 367;
Secondary accessions: Q5HY66 Q8IXP3

Explore the universe of human proteins at neXtProt for F8A2: NX_P23610

Explore proteomics data for F8A2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys40

  • See F8A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001007524.1  
    ENSEMBL proteins: 
     ENSP00000358518  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR011990 TPR-like_helical

    Graphical View of Domain Structure for InterPro Entry P23610

    ProtoNet protein and cluster: P23610


    F8A2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: F8I2_HUMAN, P23610
    Function: Not known. Possible housekeeping role

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ----
         
    F8A2 for ontologies           About GeneDecksing


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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    endosome2
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----

    F8A2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for F8A2 About    
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Blood Clotting Cascade0.42


    1 BioSystems Pathway for F8A2
        Blood Clotting Cascade


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for F8A2
    Interactions:

        Search GeneGlobe Interaction Network for F8A2

    3 Interacting proteins for F8A2 (P236103) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HTTP428583I2D: score=3 
    SNTA1Q134243I2D: score=1 
    TLR10Q9BXR53I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ----

    F8A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for F8A2 (F8I2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for F8A2 gene: 
    NM_001007523.1  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000369505(uc004fni.3)
    miRNA
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    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    F8A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTACCCACG
    F8A2 Expression
    About this image

    F8A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    F8A2 Protein Expression

    UniProtKB/Swiss-Prot: F8I2_HUMAN, P23610
    Tissue specificity: Produced abundantly in a wide variety of cell types

        Custom PCR Arrays for F8A2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F8A2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for F8A2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia F8a1 factor 8-associated gene A 82.91(n)
    86.89(a)
      14070  NM_007978.3  NP_032004.2 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    64(a)
    1 → many
    4(2093390-2094514)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    63(a)
    1 → many
    GL343202.1(2091247-2092257)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia f8a11 coagulation factor VIII-associated 1 60.36(n)
    65.06(a)
      594919  NM_001078703.1  NP_001072171.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1016791 zgc:101679 59.75(n)
    60(a)
      450058  NM_001006078.1  NP_001006078.1 


    ENSEMBL Gene Tree for F8A2 (if available)
    TreeFam Gene Tree for F8A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for F8A2 gene
    F8A11 2  F8A31 2  

    F8A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for F8A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508817CNV Insertion20534489
    esv29972CNV Gain17803354
    esv33784CNV Gain+Loss17666407
    nsv499361OTHER Inversion21111241
    nsv7470OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    2 diseases for F8A2:    
    About MalaCards
    severe hemophilia a    hemophilia


    F8A2 for disorders           About GeneDecksing


    Export disorders for F8A2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for F8A2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with F8A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    2. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    4. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
    6. Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A. (PubMed id 15687285)1 Bagnall R.D....Giannelli F. (Genome Res. 2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. (PubMed id 8528212)1 Naylor J.A....Giannelli F. (Hum. Mol. Genet. 1995)
    9. A transcribed gene in an intron of the human factor VIII gene. (PubMed id 2110545)2 Levinson B.... Gitschier J. (Genomics 1990)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 474383 HGNC: 31849 Ensembl:ENSG00000198444 euGenes: HUgn474383 ECgene: F8A2
    H-InvDB: F8A2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for F8A2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for F8A2 gene:
    Search GeneIP for patents involving F8A2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat F8A2
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     LSBio Antibodies in human, mouse, rat for F8A2
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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