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H2AFV Gene

protein-coding   GIFtS: 55
GCID: GC07M044833

H2A Histone Family, Member V


(Previous symbol: H2AV)
  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
H2A Histone Family, Member V1 2     Histone H2A.F/Z2
H2AV1 2 3     Histone H2A.V2
H2A.F/Z2 3     Purine-Rich Binding Element Protein B2
H2A.Z-22     

External Ids:    HGNC: 206641   Entrez Gene: 942392   Ensembl: ENSG000001059687   UniProtKB: Q71UI93   

Export aliases for H2AFV gene to outside databases

Previous GC identifers: GC07M044610 GC07M044642 GC07M044751


(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 H2AFV Gene:
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in
eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs
of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the
interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin
structures. This gene encodes a member of the histone H2A family. Several transcript variants encoding different
isoforms, have been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for H2AFV Gene:
H2AFV (H2A histone family, member V) is a protein-coding gene. Diseases associated with H2AFV include ataxia telangiectasia, and intrahepatic cholangiocarcinoma. GO annotations related to this gene include protein heterodimerization activity. An important paralog of this gene is H2AFZ.

UniProtKB/Swiss-Prot: H2AV_HUMAN, Q71UI9
Function: Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and
compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a
template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and
chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of
histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive
heterochromatin. May be required for chromosome segregation during cell division (By similarity)

Gene Wiki entry for H2AFV 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the H2AFV gene promoter:
         C/EBPbeta   NRSF form 1   NRSF form 2   CBF-C   CREB   SRY   FOXC1   CBF-B   CBF-A   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): H2AFV promoter sequence
   Search Chromatin IP Primers for H2AFV

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat H2AFV


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

Entrez Gene cytogenetic band: 7p13   Ensembl cytogenetic band:  7p13   HGNC cytogenetic band: 7p13

H2AFV Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
H2AFV gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M044833:  view genomic region     (about GC identifiers)

Start:
44,866,390 bp from pter      End:
44,887,725 bp from pter
Size:
21,336 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 44,905,993-44,927,227     

(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: H2AV_HUMAN, Q71UI9 (See protein sequence)
Recommended Name: Histone H2A.V  
Size: 128 amino acids; 13509 Da
Subunit: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one
H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA. H2A or its
variant H2AFV forms a heterodimer with H2B (By similarity)
Mass spectrometry: Mass=13369.4; Method=Electrospray; Range=2-128; Note=Monoisotopic, not modified;
Source=PubMed:16457589;
Sequence caution: Sequence=BAD92238.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for H2AFV:
3WAA (3D)    
Secondary accessions: A6NFA8 A6NKY0 A6NN01 A8MQC5 Q59GV8 Q6PK98
Alternative splicing: 5 isoforms:  Q71UI9-1   Q71UI9-2   Q71UI9-3   Q71UI9-4   Q71UI9-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for H2AFV: NX_Q71UI9

Explore proteomics data for H2AFV at MOPED

Post-translational modifications: 

  • Monoubiquitination of Lys-122 gives a specific tag for epigenetic transcriptional repression (By similarity)1
  • Acetylated on Lys-5, Lys-8 and Lys-12 during interphase. Acetylation disappears at mitosis (By similarity)1
  • Ubiquitination2 at Lys116, Lys121, Lys122
  • Modification sites at PhosphoSitePlus

  • See H2AFV Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_036544.1  NP_619541.1  NP_958844.1  NP_958924.1  NP_958925.1  

    ENSEMBL proteins: 
     ENSP00000222690   ENSP00000397115   ENSP00000342714   ENSP00000308405   ENSP00000340708  
     ENSP00000370516   ENSP00000430492   ENSP00000406901  

    H2AFV Human Recombinant Protein Products:

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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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    HGNC Gene Families:
    RIH: Histones / Replication-independent

    3 InterPro protein domains:
     IPR009072 Histone-fold
     IPR007125 Histone_core_D
     IPR002119 Histone_H2A

    Graphical View of Domain Structure for InterPro Entry Q71UI9

    ProtoNet protein and cluster: Q71UI9

    1 Blocks protein domain: IPB002119 Histone H2A

    UniProtKB/Swiss-Prot: H2AV_HUMAN, Q71UI9
    Similarity: Belongs to the histone H2A family


    H2AFV 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: H2AV_HUMAN, Q71UI9
    Function: Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and
    compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a
    template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and
    chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of
    histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive
    heterochromatin. May be required for chromosome segregation during cell division (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0046982protein heterodimerization activity IEA--
         
    H2AFV for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for H2AFV
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    miRNA
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    miRTarBase miRNAs that target H2AFV:
    hsa-mir-18a-3p (MIRT040878), hsa-mir-615-3p (MIRT040171), hsa-mir-484 (MIRT041848), hsa-mir-17-3p (MIRT050761), hsa-mir-100-5p (MIRT048453)

    Block miRNA regulation of human, mouse, rat H2AFV using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate H2AFV (see all 34):
    hsa-miR-2052 hsa-let-7d hsa-miR-4328 hsa-miR-139-5p hsa-miR-374a* hsa-let-7g hsa-miR-548m hsa-let-7a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat H2AFV

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 5): H2AFV (NM_138635)
    Sino Biological Human cDNA Clone for H2AFV
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for H2AFV
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat H2AFV

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    Browse ESI BIO Cell Lines and PureStem Progenitors for H2AFV 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for H2AFV


    (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 UniProtKB/Swiss-Prot
    H2AV_HUMAN, Q71UI9: Nucleus (By similarity). Chromosome (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000786nucleosome IEA--
    GO:0005634nucleus IEA--

    H2AFV 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 H2AFV About    
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    Systemic lupus erythematosus0.40
    Alcoholism0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    2 Kegg Pathways  (Kegg details for H2AFV):
        Alcoholism
    Systemic lupus erythematosus


    H2AFV for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for H2AFV
    Interactions:

        Search GeneGlobe Interaction Network for H2AFV

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for H2AFV (Q71UI93 ENSP000003084054) via UniProtKB, MINT, STRING, and/or I2D (see all 481)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARP1P098743, ENSP000003557594I2D: score=1 STRING: ENSP00000355759
    MORF4L1Q9UBU83, ENSP000003313104I2D: score=1 STRING: ENSP00000331310
    MRGBPQ9NV563, ENSP000003595184I2D: score=1 STRING: ENSP00000359518
    PAX9P557713I2D: score=4 
    CAMSAP2Q08AD13I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006334nucleosome assembly IEA--

    H2AFV 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 H2AFV (H2AV)



    (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 H2AFV gene (5 alternative transcripts): 
    NM_012412.4  NM_138635.3  NM_201436.2  NM_201516.2  NM_201517.2  

    Unigene Cluster for H2AFV:

    H2A histone family, member V
    Hs.488189  [show with all ESTs]
    Unigene Representative Sequence: AL110212
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000222690(uc003tlz.2) ENST00000437072 ENST00000349299 ENST00000308153(uc003tma.2 uc003tmb.2)
    ENST00000350771(uc003tmd.2) ENST00000381124(uc003tmc.2) ENST00000521529
    ENST00000446531
    miRNA
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    Block miRNA regulation of human, mouse, rat H2AFV using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate H2AFV (see all 34):
    hsa-miR-2052 hsa-let-7d hsa-miR-4328 hsa-miR-139-5p hsa-miR-374a* hsa-let-7g hsa-miR-548m hsa-let-7a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for H2AFV
    Predesigned siRNA for gene silencing in human, mouse, rat H2AFV
    Clone
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    OriGene clones in human, mouse for H2AFV (see all 28)
    OriGene ORF clones in mouse, rat for H2AFV
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): H2AFV (NM_138635)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat H2AFV
    Primer
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    OriGene qPCR primer pairs and template standards for H2AFV
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat H2AFV
      QuantiTect SYBR Green Assays in human, mouse, rat H2AFV
      QuantiFast Probe-based Assays in human, mouse, rat H2AFV

    Additional mRNA sequence: 

    AB209001.1 AF081192.1 AK023973.1 AK025785.1 AK129989.1 AL049324.1 AL110212.1 BC000098.2 
    BC004274.1 BC014885.2 BC070169.1 

    21 DOTS entries:

    DT.315938  DT.92419758  DT.40276722  DT.91678836  DT.100752399  DT.102834611  DT.121041856  DT.455590 
    DT.121056042  DT.95147928  DT.40249279  DT.100787929  DT.121041904  DT.121041877  DT.121041911  DT.91852611 
    DT.95205511  DT.97824733  DT.100752397  DT.121041857  DT.121056043 

    Selected AceView cDNA sequences (see all 642):

    AW135134 BG478869 BE791354 AW004825 AW051162 BI517636 AA369875 BM910657 
    AI760346 BM715562 F33019 CB046627 AW057661 CD516022 AI381036 BI832456 
    BM846136 NM_201436 AW474908 AA487766 AL520811 BU689487 BM916370 BU167111 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for H2AFV (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b
    SP1:                                -                                 
    SP2:                                -     -     -     -               
    SP3:                    -           -     -     -     -               
    SP4:                          -     -                                 
    SP5:              -                 -                                 


    ECgene alternative splicing isoforms for H2AFV

    (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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    H2AFV expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTGACAGT
    H2AFV Expression
    About this image


    H2AFV expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Bone Marrow
     
     Gonad (Reproductive System)
             Primordial Germ Cells Primitive Gonad
     
     Cartilage (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
    H2AFV Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    H2AFV Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.488189
        Custom PCR Arrays for H2AFV
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat H2AFV
    QuantiTect SYBR Green Assays in human, mouse, rat H2AFV
    QuantiFast Probe-based Assays in human, mouse, rat H2AFV
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for H2AFV

    (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 eukaryotes.

    Orthologs for H2AFV gene from Selected species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia H2afv1 , 5 H2A histone family, member V1, 5 91.67(n)1
    100(a)1
      11 (4.01 cM)5
    776051  NM_029938.11  NP_084214.11 
     64272295 
    chicken
    (Gallus gallus)
    Aves H2AFV6
    H2A histone family, member V
    97(a)
    1 ↔ 1
    AADN03025107.1(534-4102)
    lizard
    (Anolis carolinensis)
    Reptilia H2AFV6
    H2A histone family, member V
    100(a)
    1 ↔ 1
    GL343484.1(12940-25113)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.240582 Xenopus laevis transcribed sequence with strong similarity more 87.74(n)    CF282980.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC049523.12   -- 80.6(n)    BC049523.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta His2Av1 Histone H2A variant 74.86(n)
    98.36(a)
      43229  NM_079795.3  NP_524519.1 
    worm
    (Caenorhabditis elegans)
    Secernentea htz-11 htz-1 70.46(n)
    89.43(a)
      177212  NM_068168.6  NP_500569.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HTZ1(YOL012C)4
    HTZ11
    Histone variant H2AZ, exchanged for histone H2A in more4
    HTZ11
    65.29(n)1
    72.73(a)1
      15(303983-303579)4
    8541501, 4  NP_014631.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HTA81 HTA8 69.3(n)
    84.21(a)
      818463  NM_179968.2  NP_850299.1 
    rice
    (Oryza sativa)
    Liliopsida AK120299.12   -- 80.12(n)    AK120299.1 


    ENSEMBL Gene Tree for H2AFV (if available)
    TreeFam Gene Tree for H2AFV (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for H2AFV gene
    H2AFZ2  
    Selected SIMAP similar genes for H2AFV using alignment to 4 protein entries:     H2AV_HUMAN (see all proteins) (see all similar genes):
    H2AFZ    HIST1H2APS4    H2AFY2    H2AFJ    H2AFY    H2AFB2
    H2AFB3    H2AFB1    HIST1H2AB    HIST1H2AC    HIST1H2AD    HIST1H2AE
    HIST1H2AG    HIST1H2AH    HIST1H2AI    HIST1H2AJ    HIST1H2AK    HIST1H2AL

    H2AFV for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for H2AFV
    PGOHUM00000246930


    (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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    Selected SNPs for H2AFV (see all 451)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs560051151,2
    C--44762920(+) GGGGG-/GCTTAGA 5 -- int11Minor allele frequency- GC:0.00NA 2
    rs775704241,2
    F--44866040(+) TGCTGT/CGGAGA 1 -- ds50011Minor allele frequency- C:0.03WA 118
    rs1161542981,2
    F--44866242(+) CATAGC/TTCATT 1 -- ds50011Minor allele frequency- T:0.02WA 118
    rs624605161,2
    C,F--44866362(+) AGCCAT/CCGTCC 1 -- ds50014Minor allele frequency- C:0.05NA EA 244
    rs1807856301,2
    --44866445(+) AACCAA/GCAGAA 1 -- ds50010--------
    rs28981,2
    C,F,O,A,H--44866633(+) TTGTCA/GTTTGG 1 -- ut3123Minor allele frequency- G:0.30MN NA NS EA WA CSA 1487
    rs28971,2
    C,F,A,H--44866704(+) GAAAAA/GAAGTG 1 -- ut3120Minor allele frequency- G:0.48MN NA NS EA WA CSA 1314
    rs70161,2
    C,F,H--44866832(-) AAATAA/CAACTG 1 -- ut3128Minor allele frequency- C:0.24MN NA NS EA WA 3276
    rs1413265661,2
    --44866849(+) GTACAC/TAGTAA 1 -- ut310--------
    rs1849486471,2
    --44866854(+) TAGTAA/CGTCCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for H2AFV (44866390 - 44887725 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for H2AFV:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734326CNV Deletion23290073
    nsv5723CNV Insertion18451855
    nsv830985CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing H2AFV
    DNA2.0 Custom Variant and Variant Library Synthesis for H2AFV

    (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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    8 diseases for H2AFV:    
    About MalaCards
    ataxia telangiectasia    intrahepatic cholangiocarcinoma    cholangiocarcinoma    ataxia
    systemic lupus erythematosus    hiv-1    lupus erythematosus    malaria


    H2AFV for disorders           About GeneDecksing


    Export disorders for H2AFV 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 H2AFV gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with H2AFV)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Precise characterization of human histones in the H2A gene family by top down mass spectrometry. (PubMed id 16457589)1, 2 Boyne M.T. II... Kelleher N.L. (J. Proteome Res. 2006)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    5. A Proteomics Strategy for the Identification of FAT10-Modified Sites by Mass Spectrometry. (PubMed id 23862649)1 Leng L....Wang J. (J. Proteome Res. 2014)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    8. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    10. Activity-based chemical proteomics accelerates inhibitor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (amp 2011)

    (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: 94239 HGNC: 20664 AceView: H2AFV Ensembl:ENSG00000105968 euGenes: HUgn94239
    ECgene: H2AFV Kegg: 94239 H-InvDB: H2AFV

    (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 H2AFV 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 H2AFV gene:
    Search GeneIP for patents involving H2AFV

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



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