F8A2 Gene
protein-coding GIFtS: 35
GCID: GC0XP154611
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coagulation factor VIII-associated 2(Previous name: coagulation factor VIII-associated (intronic transcript)...)
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Aliases
for F8A2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| 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 |
Export aliases for F8A2 gene to outside databasesPrevious GC identifers: GC00U917958 GC0XU900554 GC0XP154264 |
Summaries
for F8A2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for F8A2:
This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twicecloser to the Xq telomere. This record represents the middle copy. Although its function is unknown, the observationthat this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribedabundantly in a wide variety of cell types. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: F8I2_HUMAN, P23610Function: Not known. Possible housekeeping role
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Genomic Views
for F8A2 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the F8A2 gene promoter:
CREB Pax-5 deltaCREB Olf-1 AP-4 En-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for F8A2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: Xq28F8A2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XP154611: view genomic region
(about GC identifiers)
Start:
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154,611,749 bp from pter |
End:
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154,613,449 bp from pter |
Size:
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1,701 bases |
Orientation:
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plus strand |
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Proteins
for F8A2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 Q8IXP3Explore the universe of human proteins at neXtProt for F8A2: NX_P23610
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P23610
F8A2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001007524.1
ENSEMBL proteins: ENSP00000358518
Human Recombinant Protein Products for F8A2:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
-- | -- |
F8A2 for ontologies About GeneDecksing
F8A2 Antibody Products:
Assay Products for F8A2: |
Protein
Domains /
Families
for F8A2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
F8A2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry P23610ProtoNet protein and cluster: P23610 |
Function
for F8A2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: F8I2_HUMAN, P23610Function: Not known. Possible housekeeping role Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
-- | -- |
F8A2 for ontologies About GeneDecksing
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for F8A2
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for F8A2
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variant library, vector shuttling 
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Synthesis Service for F8A2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat F8A2 |
|
Pathways & Interactions
for F8A2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
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| 1 | Formation of Fibrin Clot (Clotting Cascade) | |
1  BioSystems Pathway for F8A2
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for F8A2
3 Interacting proteins for F8A2 (P236103) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
-- | -- |
F8A2 for ontologies About GeneDecksing
|
Drugs & Compounds
for F8A2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for F8A2
Search CenterWatch for drugs/clinical trials and news about F8A2 / F8I2
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Transcripts
for F8A2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for F8A2 gene: NM_001007523.1 1 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000369505(uc004fni.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for F8A2
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for F8A2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: F8A2 (NM_001007523) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for F8A2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat F8A2 |
GeneLoc Exon Structure
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Expression
for F8A2 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| F8A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTACCCACG
About this image
See F8A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for F8A2
UniProtKB/Swiss-Prot: F8I2_HUMAN, P23610Tissue specificity: Produced abundantly in a wide variety of cell types
SABiosciences Custom PCR Arrays for F8A2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for F8A2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat F8A2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat F8A2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat F8A2 |
Orthologs
for F8A2 gene
(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)
About This Section
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This gene was present in the common ancestor of animals.
Orthologs for F8A2 gene from 4/16 species (see all 16) About this table
ENSEMBL Gene Tree for F8A2 (if available)
TreeFam Gene Tree for F8A2 (if available) |
Paralogs
for F8A2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for F8A2 gene
- F8A11 2 F8A31 2
F8A2 for paralogs About GeneDecksing
|
Genomic Variants
for F8A2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for F8A2 (154611749 - 154613449 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for F8A2
3 CNVs: 97110 23331 83872
2 Inversions: 37368 37367 | SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for F8A2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
F8A2 for disorders About GeneDecksing
2  diseases for F8A2: About MalaCardshemophilia huntington's disease
Export disorders for F8A2 gene to outside databases
|
Publications
for F8A2 gene (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)
About This Section
|
PubMed articles for F8A2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with F8A2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
- Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A. (PubMed id 15687285)1 Bagnall R.D....Giannelli F. (2005)
- 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. (2004)
- Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. (PubMed id 8528212)1 Naylor J.A....Giannelli F. (1995)
- A transcribed gene in an intron of the human factor VIII gene. (PubMed id 2110545)2 Levinson B.... Gitschier J. (1990)
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External Searches for F8A2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing F8A2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing F8A2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing F8A2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for F8A2 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| 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
|
Products
for F8A2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat F8A2 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing F8A2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat F8A2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat F8A2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat F8A2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat F8A2 |
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