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XAB2 Gene

protein-coding   GIFtS: 63
GCID: GC19M007684

XPA Binding Protein 2

  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
XPA Binding Protein 21 2     HCRN2
SYF1 Pre-MRNA-Splicing Factor1 2     NTC902
HCNP2 3     Crn-Related Protein Kim12
SYF12 3     Pre-MRNA-Splicing Factor SYF12
XPA-Binding Protein 22 3     SYF1 Homolog, RNA Splicing Factor2
RNA Splicing Factor (S. Cerevisiae)1     KIAA11773
SYF1 Homolog1     Protein HCNP3

External Ids:    HGNC: 140891   Entrez Gene: 569492   Ensembl: ENSG000000769247   OMIM: 6108505   UniProtKB: Q9HCS73   

Export aliases for XAB2 gene to outside databases

Previous GC identifers: GC00U913006 GC19M007590 GC19M007354


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for XAB2 Gene:
XAB2 (XPA binding protein 2) is a protein-coding gene. Diseases associated with XAB2 include cockayne syndrome, and xeroderma pigmentosum.

UniProtKB/Swiss-Prot: SYF1_HUMAN, Q9HCS7
Function: Involved in transcription-coupled repair (TCR), transcription and pre-mRNA splicing

Gene Wiki entry for XAB2 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_000019.10  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the XAB2 gene promoter:
         GR   Sp1   GCNF   Lmo2   Nkx2-5   GCNF-1   SEF-1 (1)   STAT3   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): XAB2 promoter sequence
   Search Chromatin IP Primers for XAB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat XAB2


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.3

XAB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XAB2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M007684:  view genomic region     (about GC identifiers)

Start:
7,684,411 bp from pter      End:
7,694,451 bp from pter
Size:
10,041 bases      Orientation:
minus 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: SYF1_HUMAN, Q9HCS7 (See protein sequence)
Recommended Name: Pre-mRNA-splicing factor SYF1  
Size: 855 amino acids; 100010 Da
Subunit: Associates with RNA polymerase II, the TCR-specific proteins CKN1/CSA and ERCC6/CSB, and XPA. Identified
in the spliceosome C complex
Sequence caution: Sequence=AAF86951.1; Type=Frameshift; Positions=314, 411, 426, 429, 468; Sequence=AAH08778.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB84861.1; Type=Miscellaneous
discrepancy; Note=Alternative splicing. Incomplete sequence;
Secondary accessions: Q8TET6 Q96HB0 Q96IW0 Q9NRG6 Q9ULP3

Explore the universe of human proteins at neXtProt for XAB2: NX_Q9HCS7

Explore proteomics data for XAB2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys174, Lys637, Lys654, Lys677, Lys708
  • Modification sites at PhosphoSitePlus

  • See XAB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_064581.2  
    ENSEMBL proteins: 
     ENSP00000351137   ENSP00000438225  
    Reactome Protein details: Q9HCS7

    XAB2 Human Recombinant Protein Products:

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    Novus Biologicals XAB2 Protein
    Novus Biologicals XAB2 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for XAB2

    XAB2 Antibody Products:

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    XAB2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
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    Cloud-Clone Corp. CLIAs for XAB2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR003107 HAT
     IPR013105 TPR_2
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q9HCS7

    ProtoNet protein and cluster: Q9HCS7

    1 Blocks protein domain: IPB003107 RNA-processing protein

    UniProtKB/Swiss-Prot: SYF1_HUMAN, Q9HCS7
    Similarity: Belongs to the crooked-neck family
    Similarity: Contains 14 HAT repeats


    XAB2 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: SYF1_HUMAN, Q9HCS7
    Function: Involved in transcription-coupled repair (TCR), transcription and pre-mRNA splicing

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10944529
         
    XAB2 for ontologies           About GeneDecksing


    Phenotypes:
         7 GenomeRNAi human phenotypes for XAB2:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Decreased viability 
     Decreased viability of wild-ty  Increased gamma-H2AX phosphory  Low eccentricity cells 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Xab2):
     embryogenesis  mortality/aging 

    XAB2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for XAB2: Xab2tm2Tnka Xab2tm1Tnka

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for XAB2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for XAB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for XAB2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for XAB2

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for XAB2
    Predesigned siRNA for gene silencing in human, mouse, rat XAB2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for XAB2

    Clone
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    OriGene clones in human, mouse for XAB2 (see all 6)
    OriGene ORF clones in mouse, rat for XAB2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: XAB2 (NM_020196)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XAB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XAB2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for XAB2
    Browse ESI BIO Cell Lines and PureStem Progenitors for XAB2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XAB2


    (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
    SYF1_HUMAN, Q9HCS7: Nucleus (By similarity). Note=Detected in the splicing complex carrying pre-mRNA (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    extracellular1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IC10944529
    GO:0005654nucleoplasm TAS--
    GO:0071013catalytic step 2 spliceosome IDA11991638

    XAB2 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 XAB2 About    
    See pathways by source

    SuperPathContained pathways About
    1DNA Repair
    Transcription-coupled NER (TC-NER)0.90
    Dual incision reaction in TC-NER0.65
    Nucleotide Excision Repair0.90
    DNA Repair0.45
    Formation of transcription-coupled NER (TC-NER) repair complex0.65
    2Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32
    3Spliceosome
    Spliceosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for XAB2
        DNA Repair Mechanisms

    2 Reactome Pathways for XAB2
        Formation of transcription-coupled NER (TC-NER) repair complex
    Dual incision reaction in TC-NER


    1 Kegg Pathway  (Kegg details for XAB2):
        Spliceosome


    XAB2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including XAB2: 
              DNA Repair in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for XAB2

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

    Selected Interacting proteins for XAB2 (Q9HCS71, 2, 3 ENSP000003511374) via UniProtKB, MINT, STRING, and/or I2D (see all 163)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPIEQ9UNP91, 2, 3, ENSP000003127694EBI-295232,EBI-591818 MINT-8337068 MINT-8331976 I2D: score=4 STRING: ENSP00000312769
    SNW1Q135731, 2, 3, ENSP000002615314EBI-295232,EBI-632715 MINT-8331965 MINT-8337057 I2D: score=1 STRING: ENSP00000261531
    IKQ131231, 2, ENSP000003963014EBI-295232,EBI-713456 MINT-8331987 MINT-8337079 STRING: ENSP00000396301
    SF3B2Q134351, 2, ENSP000003188614EBI-295232,EBI-749111 MINT-8331943 MINT-8333603 STRING: ENSP00000318861
    GLIS2Q9BZE02, 3, ENSP000002623664MINT-4651467 I2D: score=2 STRING: ENSP00000262366
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome IC11991638
    GO:0001824blastocyst development IEA--
    GO:0006281DNA repair TAS--
    GO:0006283transcription-coupled nucleotide-excision repair TAS--
    GO:0006289nucleotide-excision repair TAS--

    XAB2 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 XAB2 (SYF1)



    (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 XAB2 gene: 
    NM_020196.2  

    Unigene Cluster for XAB2:

    XPA binding protein 2
    Hs.9822  [show with all ESTs]
    Unigene Representative Sequence: AK074035
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358368(uc002mgx.3) ENST00000595288 ENST00000600230 ENST00000596134
    ENST00000534844
    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat XAB2
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: XAB2 (NM_020196)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XAB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XAB2
    Primer
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    OriGene qPCR primer pairs and template standards for XAB2
    OriGene qSTAR qPCR primer pairs in human, mouse for XAB2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat XAB2
      QuantiTect SYBR Green Assays in human, mouse, rat XAB2
      QuantiFast Probe-based Assays in human, mouse, rat XAB2

    Additional mRNA sequence: 

    AB026111.1 AB033003.1 AF226051.1 AF258567.1 AF272147.1 AK025858.1 AK074035.1 BC007208.1 
    BC008778.1 CR749864.1 

    7 DOTS entries:

    DT.445941  DT.91755990  DT.97759948  DT.100833965  DT.95144979  DT.95133035  DT.95144980 

    Selected AceView cDNA sequences (see all 272):

    BM806807 BI772072 CA488373 AA351089 BM913999 BQ053451 BG744221 CR615253 
    AB033003 BU528530 CR603946 BU153161 BX424193 BQ643137 BC007208 F02416 
    BU541210 AA722714 CR591175 BQ050225 AK074035 BE778200 BG488879 BM836134 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for XAB2    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b
    SP1:                                                                                -                                                               
    SP2:                                                                                                                                                
    SP3:                                                                                                                                                
    SP4:                                                                                                                                                


    ECgene alternative splicing isoforms for XAB2

    (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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    XAB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGCTGCTGG
    XAB2 Expression
    About this image

    XAB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    XAB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.9822
        Pathway & Disease-focused RT2 Profiler PCR Array including XAB2: 
              DNA Repair in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for XAB2
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    QuantiFast Probe-based Assays in human, mouse, rat XAB2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XAB2

    (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 XAB2 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xab21 , 5 XPA binding protein 21, 5 89.04(n)1
    98.83(a)1
      8 (1.92 cM)5
    674391  NM_026156.21  NP_080432.11 
     36084215 
    lizard
    (Anolis carolinensis)
    Reptilia XAB26
    XPA binding protein 2
    78(a)
    1 ↔ 1
    2(103064922-103088794)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.19692 Xenopus laevis cDNA clone IMAGE4174459, partial cds 75.43(n)    BC060492.1 
    zebrafish
    (Danio rerio)
    Actinopterygii xab22 XPA binding protein 2 76.02(n)   387600  BC054579.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG61971 CG6197 64.44(n)
    63.63(a)
      36514  NM_137047.2  NP_610891.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C50F2.31 C50F2.3 53.65(n)
    49.88(a)
      171970  NM_058849.6  NP_491250.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SYF1(YDR416W)4 Member of the NineTeen Complex (NTC) that contains more   --   4(1298432-1301011) 852025  NP_010704.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G287401 AT5G28740 55.39(n)
    53.62(a)
      832986  NM_122757.3  NP_198226.1 
    rice
    (Oryza sativa)
    Liliopsida Os.331762 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 71.43(n)    AK101483.1 


    ENSEMBL Gene Tree for XAB2 (if available)
    TreeFam Gene Tree for XAB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for XAB2 gene
    1 SIMAP similar gene for XAB2 using alignment to 2 protein entries:     SYF1_HUMAN (see all proteins):
    DKFZp762C1015

    XAB2 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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    Selected SNPs for XAB2 (see all 406)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1442864861,2
    --7683937(+) TGGTCC/GTGGGC 1 -- ds50010--------
    rs41348741,2
    C,H--7683959(-) CAGGCG/ACCAGA 1 -- ds50015Minor allele frequency- A:0.00NS EA 546
    rs729925541,2
    --7684003(+) CAGTTC/TCCAGA 1 -- ds50010--------
    rs41348731,2
    C,F,H--7684128(-) CCTCTC/AAGAGC 1 -- ds500110Minor allele frequency- A:0.04NS EA NA WA 964
    rs41348721,2
    C,F,H--7684171(-) AGGGCA/GATCCA 1 -- ds500115Minor allele frequency- G:0.04NS EA NA WA 1516
    rs41348711,2
    C,F--7684238(-) CCTCCG/ACTGCC 1 -- ds50015Minor allele frequency- A:0.02NS NA 438
    rs1510528731,2
    C--7684422(+) ACAAAC/TGTAGC 1 -- ut310--------
    rs41348701,2
    C,F--7684451(-) CCCCCATCC    
       CCC
    /-
    CTCCC
    2 -- ut31 cds11Minor allele frequency- -:0.15NS 178
    rs755613811,2
    C--7684457(+) GGGGAG/TGGGGG 1 -- ut310--------
    rs41348691,2
    C,F,H--7684502(-) CCAGCC/TGCAGT 2 A syn1 ese324Minor allele frequency- T:0.06NS EA NA WA EU 6065

    HapMap Linkage Disequilibrium report for XAB2 (7684411 - 7694451 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for XAB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv993190CNV Deletion20482838
    nsv910970CNV Loss21882294
    nsv910979CNV Loss21882294
    nsv833730CNV Loss17160897
    nsv833731CNV Loss17160897
    dgv3712n71CNV Loss21882294
    esv2751809CNV Gain17911159

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing XAB2
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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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    OMIM gene information: 610850    OMIM disorders: --

    4 diseases for XAB2:    
    About MalaCards
    cockayne syndrome    xeroderma pigmentosum    multiple sclerosis    malaria

    2 diseases from the University of Copenhagen DISEASES database for XAB2:
    Cockayne syndrome     Xeroderma pigmentosum

    XAB2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): XAB2
    Human Genome Epidemiology (HuGE) Navigator: XAB2 (3 documents)

    Export disorders for XAB2 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 XAB2 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with XAB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. XAB2, a novel tetratricopeptide repeat protein, involved in transcription-coupled DNA repair and transcription. (PubMed id 10944529)1, 2, 3, 9 Nakatsu Y.... Tanaka K. (J. Biol. Chem. 2000)
    2. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (Am. J. Epidemiol. 2010)
    3. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    4. 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)
    5. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)1, 2 Jurica M.S.... Moore M.J. (RNA 2002)
    6. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (DNA Res. 1999)
    7. Isolation of XAB2 complex involved in pre-mRNA splicing, transcription, and transcription-coupled repair. (PubMed id 17981804)1, 9 Kuraoka I....Tanaka K. (J. Biol. Chem. 2008)
    8. Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. (PubMed id 16916636)1, 9 Fousteri M.... Mullenders L.H. (Mol. Cell 2006)
    9. The functional interactome landscape of the human histone deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (Mol. Syst. Biol. 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (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: 56949 HGNC: 14089 AceView: XAB2 Ensembl:ENSG00000076924 euGenes: HUgn56949
    ECgene: XAB2 Kegg: 56949 H-InvDB: XAB2

    (According to HUGE)
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    HUGE: KIAA1177

    (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 XAB2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for XAB2 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/hcnp/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for XAB2 gene:
    Search GeneIP for patents involving XAB2

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



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