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Aliases for F8A2 Gene

Aliases for F8A2 Gene

  • Coagulation Factor VIII-Associated 2 2 3 5
  • Coagulation Factor VIII-Associated (Intronic Transcript) 2 2
  • CpG Island Protein 4
  • F8A1 F8A2 F8A3 4
  • F8A 4

External Ids for F8A2 Gene

Previous GeneCards Identifiers for F8A2 Gene

  • GC00U917958
  • GC0XU900554
  • GC0XP154264
  • GC0XP154611

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. An important paralog of this gene is F8A3.

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

Regulatory Elements for F8A2 Gene

Enhancers for F8A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF154723 1.7 FANTOM5 Ensembl ENCODE 21.8 -650.1 -650115 18.0 HDGF PKNOX1 ZFP64 SIN3A ZNF2 GLIS2 ELK1 ZNF143 KLF7 FOS SNORA70 F8A1 SNORA56 EMD PLXNA3 HCFC1 F8A2 DKC1 MIR664B MPP1
GH0XF154717 1.7 FANTOM5 Ensembl ENCODE 20.8 -663.2 -663170 3.7 HDGF PKNOX1 ARNT ARID4B ZNF121 GLIS2 ZNF766 GATA2 ZNF143 ZNF263 F8A1 GAB3 F8A2 MPP1 IKBKG EMD DNASE1L1 TAZ TEX28 OR3B1P
GH0XF154796 1.5 FANTOM5 ENCODE 21.5 -580.7 -580715 10.1 PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 FOS KLF13 F8A1 SNORA56 F8A2 EMD SNORA70 SNORA36A DKC1 MIR664B IKBKG TMLHE
GH0XF154826 1.5 FANTOM5 Ensembl ENCODE 18.1 -554.2 -554175 2.0 ELF3 MLX ARID4B DMAP1 RAD21 THRB ZSCAN9 ZNF48 YY1 RARA F8A1 F8A2 SNORA36A DKC1 MIR664B IKBKG GAB3 EMD MPP1 DNASE1L1
GH0XF154540 1.4 FANTOM5 ENCODE 14.4 -839.8 -839778 3.7 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 FOS SP5 JUNB REST FAM3A IKBKG F8A1 F8A2 GAB3 MECP2 MPP1 EMD DNASE1L1 IRAK1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around F8A2 on UCSC Golden Path with GeneCards custom track

Promoters for F8A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001919652 385 2201

Genomic Location for F8A2 Gene

Chromosome:
X
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

Genes around F8A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
F8A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for F8A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for F8A2 Gene

  • Ubiquitination at Lys 40
  • Modification sites at PhosphoSitePlus

Other Protein References for F8A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for F8A2 Gene

Domains & Families for F8A2 Gene

Protein Domains for F8A2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families , Suggested Antigen Peptide Sequences 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

Phenotypes for F8A2 Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for F8A2 Gene

Localization for F8A2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for F8A2 gene
Compartment Confidence
nucleus 5
endosome 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

No data available for Subcellular locations from UniProtKB/Swiss-Prot for F8A2 Gene

Pathways & Interactions for F8A2 Gene

No Data Available

Interacting Proteins for F8A2 Gene

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

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

No data available for Pathways by source and SIGNOR curated interactions for F8A2 Gene

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for F8A2 Gene

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

This gene is overexpressed in Whole Blood (x7.3) and Heart - Left Ventricle (x6.0).

Protein differential expression in normal tissues from HIPED for F8A2 Gene

This gene is overexpressed in Fetal Brain (8.4) and Pancreas (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for F8A2 Gene



Protein tissue co-expression partners for F8A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of F8A2 Gene:

F8A2

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 expression patterns with F8A2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for F8A2 Gene

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 34
  • 84.95 (n)
mouse
(Mus musculus)
Mammalia F8a 34
  • 82.91 (n)
rat
(Rattus norvegicus)
Mammalia F8a1 34
  • 82.05 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia f8a1 34
  • 60.36 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:101679 34
  • 59.75 (n)
Species where no ortholog for F8A2 was found in the sources mined by GeneCards:
  • 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

Sequence variations from dbSNP and Humsavar for F8A2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs201591827 -- 155,383,548(+) CCACC(C/T)AACGC downstream-variant-500B, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv2549e212 CNV gain 25503493
esv29972 CNV gain 17803354
esv33784 CNV gain+loss 17666407
esv3577568 CNV gain 25503493
esv3577574 CNV gain 25503493
nsv1076287 CNV deletion 25765185
nsv499361 OTHER inversion 21111241
nsv508817 CNV insertion 20534489
nsv7470 OTHER inversion 18451855

Relevant External Links for F8A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
F8A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for F8A2 Gene

Disorders for F8A2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for F8A2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
severe hemophilia a
  • severe factor viii deficiency
- elite association - COSMIC cancer census association via MalaCards
Search F8A2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for F8A2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
F8A2
genes like me logo Genes that share disorders with F8A2: view

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

Publications for F8A2 Gene

  1. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64
  2. Enhanced factor VIIIa stability of A2 domain interface variants results from an increased apparent affinity for the A2 subunit. Results from an increased apparent affinity for the A2 subunit. (PMID: 24899227) Monaghan M. … Fay P.J. (Thromb. Haemost. 2014) 3 64
  3. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PMID: 22223895) Bienvenut W.V. … Giglione C. (Mol. Cell Proteomics 2012) 4 64
  4. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P. … Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012) 4 64
  5. Initial characterization of the human central proteome. (PMID: 21269460) Burkard T.R. … Colinge J. (BMC Syst. Biol. 2011) 4 64

Products for F8A2 Gene

Sources for F8A2 Gene

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