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Aliases for F8A2 Gene

Aliases for F8A2 Gene

  • Coagulation Factor VIII-Associated 2 2 3
  • Coagulation Factor VIII-Associated (Intronic Transcript) 2 2
  • CpG Island Protein 4
  • F8A1 F8A2 F8A3 4
  • F8A 4

External Ids for F8A2 Gene

Summaries for F8A2 Gene

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. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade). An important paralog of this gene is F8A1.

UniProtKB/Swiss-Prot for F8A2 Gene

  • Not known. Possible housekeeping role

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for F8A2 Gene

Genomics for F8A2 Gene

Genomic Location for F8A2 Gene

Start:
155,382,115 bp from pter
End:
155,383,230 bp from pter
Size:
1,116 bases
Orientation:
Plus strand

Genomic View for F8A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for F8A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F8A2 Gene

Regulatory Elements for F8A2 Gene

Proteins for F8A2 Gene

  • Protein details for F8A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23610-F8I2_HUMAN
    Recommended name:
    Factor VIII intron 22 protein
    Protein Accession:
    P23610
    Secondary Accessions:
    • Q5HY66
    • Q8IXP3

    Protein attributes for F8A2 Gene

    Size:
    371 amino acids
    Molecular mass:
    39103 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA35713.1; Type=Frameshift; Positions=231, 257, 367; Evidence={ECO:0000305};

neXtProt entry for F8A2 Gene

Proteomics data for F8A2 Gene at MOPED

Post-translational modifications for F8A2 Gene

Other Protein References for F8A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for F8A2 Gene

Domains for F8A2 Gene

Protein Domains for F8A2 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with F8A2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for F8A2 Gene

Function for F8A2 Gene

Molecular function for F8A2 Gene

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

Gene Ontology (GO) - Molecular Function for F8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with F8A2: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for F8A2 Gene

Localization for F8A2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for F8A2 Gene COMPARTMENTS Subcellular localization image for F8A2 gene
Compartment Confidence
nucleus 4
cytosol 2
endosome 2
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for F8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
genes like me logo Genes that share ontologies with F8A2: view

Pathways for F8A2 Gene

genes like me logo Genes that share pathways with F8A2: view

Pathways by source for F8A2 Gene

1 BioSystems pathway for F8A2 Gene

Interacting Proteins for F8A2 Gene

Selected Interacting proteins: P23610-F8I2_HUMAN for F8A2 Gene via I2D

Gene Ontology (GO) - Biological Process for F8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with F8A2: view

Transcripts for F8A2 Gene

mRNA/cDNA for F8A2 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for F8A2 Gene

Coagulation factor VIII-associated 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for F8A2 Gene

No ASD Table

Relevant External Links for F8A2 Gene

GeneLoc Exon Structure for
F8A2
ECgene alternative splicing isoforms for
F8A2

Expression for F8A2 Gene

mRNA expression in normal human tissues for F8A2 Gene

mRNA differential expression in normal tissues according to GTEx for F8A2 Gene

This gene is overexpressed in Whole Blood (7.3) and Heart - Left Ventricle (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for F8A2 Gene

SOURCE GeneReport for Unigene cluster for F8A2 Gene Hs.731793

mRNA Expression by UniProt/SwissProt for F8A2 Gene

P23610-F8I2_HUMAN
Tissue specificity: Produced abundantly in a wide variety of cell types
genes like me logo Genes that share expressions with F8A2: view

Orthologs for F8A2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for F8A2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC617475 36
  • 84.95 (n)
  • 85.71 (a)
mouse
(Mus musculus)
Mammalia F8a 36
  • 82.91 (n)
  • 86.89 (a)
rat
(Rattus norvegicus)
Mammalia F8a1 36
  • 82.05 (n)
  • 86.89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia f8a1 36
  • 60.36 (n)
  • 65.06 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:101679 36
  • 59.75 (n)
  • 60 (a)
Species with no ortholog for F8A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for F8A2 Gene

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

Paralogs for F8A2 Gene

Paralogs for F8A2 Gene

genes like me logo Genes that share paralogs with F8A2: view

Variants for F8A2 Gene

Structural Variations from Database of Genomic Variants (DGV) for F8A2 Gene

Variant ID Type Subtype PubMed ID
esv33784 CNV Gain+Loss 17666407
esv29972 CNV Gain 17803354
nsv508817 CNV Insertion 20534489
nsv7470 OTHER Inversion 18451855
nsv499361 OTHER Inversion 21111241

Relevant External Links for F8A2 Gene

HapMap Linkage Disequilibrium report
F8A2

No data available for Sequence variations from dbSNP and Humsavar for F8A2 Gene

Disorders for F8A2 Gene

(1) MalaCards Diseases for F8A2 Gene

Search for F8A2 Gene in MalaCards »
genes like me logo Genes that share disorders with F8A2: view

No data available for UniProtKB/Swiss-Prot for F8A2 Gene

Publications for F8A2 Gene

  1. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. (PMID: 8528212) Naylor J.A. … Giannelli F. (Hum. Mol. Genet. 1995) 3
  2. Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A. (PMID: 15687285) Bagnall R.D. … Giannelli F. (Genome Res. 2005) 3
  3. A transcribed gene in an intron of the human factor VIII gene. (PMID: 2110545) Levinson B. … Gitschier J. (Genomics 1990) 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 4

Products for F8A2 Gene

Sources for F8A2 Gene

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