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XIRP2 Gene

protein-coding   GIFtS: 49
GCID: GC02P167744

Xin Actin-Binding Repeat Containing 2

(Previous name: cardiomyopathy associated 3)
(Previous symbol: CMYA3)
  See related diseases
at
MalaCards
 

Aliases
for XIRP2 gene

(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
Xin Actin-Binding Repeat Containing 21 2     xeplin2
CMYA31 2 3 5     Xin Actin-Binding Repeat-Containing Protein 22
Cardiomyopathy Associated 31 2     Xin Repeat Protein 22
myomaxin1 2     Beta-xin3
Cardiomyopathy-Associated Protein 32 3     Xeplin3
beta-xin2     

External Ids:    HGNC: 143031   Entrez Gene: 1294462   Ensembl: ENSG000001630927   OMIM: 6097785   UniProtKB: A4UGR93   

Export aliases for XIRP2 gene to outside databases

Previous GC identifers: GC02P167469 GC02P159640


Summaries
for XIRP2 gene

(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 XIRP2 Gene:
XIRP2 (xin actin-binding repeat containing 2) is a protein-coding gene. Diseases associated with XIRP2 include osteochondrosis, and heroin dependence. GO annotations related to this gene include actin binding. An important paralog of this gene is XIRP1.

UniProtKB/Swiss-Prot: XIRP2_HUMAN, A4UGR9
Function: Protects actin filaments from depolymerization

Gene Wiki entry for XIRP2 Gene


Genomic Views
for XIRP2 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_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the XIRP2 gene promoter:
         Bach1   Pax-2   Pax-2a   POU6F1 (c2)   HNF-1A   POU2F1   POU2F1b   HNF-1   POU2F1a   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: XIRP2 promoter sequence
   Search Chromatin IP Primers for XIRP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat XIRP2


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

Entrez Gene cytogenetic band: 2q24.3   Ensembl cytogenetic band:  2q24.3   HGNC cytogenetic band: 2q31.1

XIRP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XIRP2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P167744:  view genomic region     (about GC identifiers)

Start:
 167,744,997 bp from pter      End:
 168,116,263 bp from pter
Size:
 371,267 bases      Orientation:
 plus strand

Proteins
for XIRP2 gene

(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: XIRP2_HUMAN, A4UGR9 (See protein sequence)
Recommended Name: Xin actin-binding repeat-containing protein 2  
Size: 3374 amino acids; 382300 Da
Subunit: Interacts with ACTN2 (By similarity). Interacts with F-actin
Miscellaneous: 'Xin' means 'heart' in Chinese
Sequence caution: Sequence=AAH18673.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAY24138.1; Type=Erroneous gene model prediction; Sequence=CAD38624.1;
Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=CAD89958.1;
Type=Miscellaneous discrepancy; Note=Contaminating sequence; Sequence=CAD91141.2; Type=Miscellaneous discrepancy;
Note=Contaminating sequence;
1 PDB 3D structure from and Proteopedia for XIRP2:
4F14 (3D)    
Secondary accessions: A0PJ94 B2BBS0 B2BBS1 B2BBS4 B3KVH0 Q53R52 Q5MJ67 Q702N7 Q86T36 Q86T38
Q86T46 Q86T51 Q86T53 Q86T55 Q86T79 Q86TB6 Q8N1M9 Q8N3R5 Q8TBV6
Alternative splicing: 7 isoforms:  A4UGR9-1   A4UGR9-2   A4UGR9-3   A4UGR9-4   A4UGR9-5   A4UGR9-6   A4UGR9-7   (Variant in position: 757:R->G (in dbSNP:rs3749005). Variant in position: 885:V->G (in dbSNP:rs3749006). Variant in position: 905:E->Q (in dbSNP:rs16853344))

Explore the universe of human proteins at neXtProt for XIRP2: NX_A4UGR9

Explore proteomics data for XIRP2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See XIRP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001073278.1  NP_001186072.1  NP_001186073.1  NP_001186074.1  NP_689594.4  

    ENSEMBL proteins: 
     ENSP00000386454   ENSP00000386619   ENSP00000386840   ENSP00000387255   ENSP00000386981  
     ENSP00000386724   ENSP00000415541   ENSP00000295237  

    XIRP2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for XIRP2
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for XIRP2

    XIRP2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
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    OriGene Custom Antibody Services for XIRP2
    Novus Biologicals XIRP2 Antibodies
    Abcam antibodies for XIRP2
    Cloud-Clone Corp. Antibodies for XIRP2
    Search ThermoFisher Antibodies for XIRP2
    LSBio Antibodies in human, mouse, rat for XIRP2

    XIRP2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for XIRP2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for XIRP2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for XIRP2
    Cloud-Clone Corp. CLIAs for XIRP2

    Domains /
    Families
    for XIRP2 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 1 InterPro protein domain:
     IPR012510 Actin-binding_Xin_repeat

    Graphical View of Domain Structure for InterPro Entry A4UGR9

    ProtoNet protein and cluster: A4UGR9

    UniProtKB/Swiss-Prot: XIRP2_HUMAN, A4UGR9
    Domain: Xin repeats bind F-actin
    Similarity: Belongs to the Xin family
    Similarity: Contains 28 Xin repeats


    XIRP2 for domains           About GeneDecksing


    Function
    for XIRP2 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, 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: XIRP2_HUMAN, A4UGR9
    Function: Protects actin filaments from depolymerization

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding ----
    GO:0051393alpha-actinin binding ----
         
    XIRP2 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Xirp2):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  homeostasis/metabolism 
     integument  liver/biliary system  mortality/aging  muscle  normal 

    XIRP2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for XIRP2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for XIRP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for XIRP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for XIRP2

    miRNA
    Products:            		miRTarBase miRNAs that target XIRP2:
    hsa-mir-335-5p (MIRT018886)

    Block miRNA regulation of human, mouse, rat XIRP2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate XIRP2
    SwitchGear 3'UTR luciferase reporter plasmid: XIRP2 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for XIRP2
    Predesigned siRNA for gene silencing in human, mouse, rat XIRP2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for XIRP2

    Clone
    Products:             		 OriGene clones in human, mouse for XIRP2 (see all 9)
    OriGene ORF clones in mouse, rat for XIRP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): XIRP2 (NM_001079810)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XIRP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XIRP2

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for XIRP2
    Browse ESI BIO Cell Lines and PureStem Progenitors for XIRP2 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XIRP2


    Localization
    for XIRP2 gene

    (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
    XIRP2_HUMAN, A4UGR9: Cell junction. Note=Colocalizes with actin stress fibers (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus2
    cytosol1
    extracellular1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030018Z disc ----
    GO:0030054cell junction IEA--

    XIRP2 for ontologies           About GeneDecksing


    Pathways & Interactions
    for XIRP2 gene

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for XIRP2
    Interactions:

        Search GeneGlobe Interaction Network for XIRP2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for XIRP2 (A4UGR93 ENSP000003868404) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NSMAFQ926363, ENSP000004110124I2D: score=3 STRING: ENSP00000411012
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003281ventricular septum development ----
    GO:0030036actin cytoskeleton organization IEA--
    GO:0045216cell-cell junction organization ----
    GO:0055008cardiac muscle tissue morphogenesis ----

    XIRP2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for XIRP2 gene

    (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 XIRP2



    Transcripts
    for XIRP2 gene

    (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 XIRP2 gene (5 alternative transcripts): 
    NM_001079810.3  NM_001199143.1  NM_001199144.1  NM_001199145.1  NM_152381.5  

    Unigene Cluster for XIRP2:

    Xin actin-binding repeat containing 2
    Hs.73680  [show with all ESTs]
    Unigene Representative Sequence: NM_152381
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409043 ENST00000409728(uc010fpn.3) ENST00000409195(uc002udx.3 uc010fpo.3)
    ENST00000409273(uc010fpq.3) ENST00000409605(uc010fpr.3) ENST00000409756
    ENST00000420519 ENST00000295237(uc002udy.3)
    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat XIRP2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate XIRP2
    SwitchGear 3'UTR luciferase reporter plasmid: XIRP2 3' UTR sequence
    Inhib. RNA
    Products:             		OriGene RNAi products in human, mouse, rat for XIRP2
    Predesigned siRNA for gene silencing in human, mouse, rat XIRP2
    Clone
    Products:             		 OriGene clones in human, mouse for XIRP2 (see all 9)
    OriGene ORF clones in mouse, rat for XIRP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): XIRP2 (NM_001079810)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XIRP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XIRP2
    Primer
    Products:            		OriGene qSTAR qPCR primer pairs in human, mouse for XIRP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat XIRP2
      QuantiTect SYBR Green Assays in human, mouse, rat XIRP2
      QuantiFast Probe-based Assays in human, mouse, rat XIRP2

    Additional mRNA sequence: 

    AJ626901.1 AK056582.1 AK092683.1 AK096430.1 AK096907.1 AK097519.1 AK122889.1 AK123963.1 
    AK125495.1 AL831970.2 AL831985.1 AL832011.1 AL832331.1 AL832336.1 AL832360.1 AL832375.1 
    AL832382.1 AL832452.2 AL833291.2 AY820969.1 BC016370.1 BC018673.1 BC022446.1 BC022887.1 
    BC022888.1 BC070143.1 BC107799.1 BX647448.1 BX647645.1 BX647844.1 BX647845.1 BX647848.1 
    EF119711.1 EF119717.1 EF119718.1 EF119719.1 EF119720.1 EF119721.1 EF119722.1 

    8 DOTS entries:

    DT.101984484  DT.213707  DT.95343202  DT.95185473  DT.100795194  DT.120951509  DT.100795191  DT.92439424 

    Selected AceView cDNA sequences (see all 200):

    AJ626901 AL832452 BC022446 BX647448 AA195845 AW755252 BC070143 F28773 
    AK096907 Z28678 AA111946 BX500581 BX647645 AL596757 BC022888 AI803678 
    BC022887 AL832336 AK096430 F32854 C05081 F21569 AK122889 AK056582 

    GeneLoc Exon Structure


    Expression
    for XIRP2 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™, 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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    XIRP2 expression in normal human tissues (normalized intensities)      XIRP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    XIRP2 Expression
    About this image


    XIRP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Endothelium (Cardiovascular System)
             Endothelial-like cells
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Skeletal Muscle (Muscoskeletal System)
    XIRP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    XIRP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.73680
        Custom PCR Arrays for XIRP2
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat XIRP2
    QuantiTect SYBR Green Assays in human, mouse, rat XIRP2
    QuantiFast Probe-based Assays in human, mouse, rat XIRP2
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XIRP2

    Orthologs
    for XIRP2 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for XIRP2 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Xirp21 , 5 xin actin-binding repeat containing 21, 5 79.95(n)1
    72.86(a)1    		   2 (39.31 cM)5
    2414311  NM_001024618.21  NP_001019789.11 
     674460025 
    lizard
    (Anolis carolinensis)    		 Reptilia XIRP26
    		 xin actin-binding repeat containing 2
    		 47(a)
    		 1 ↔ 1
    		 GL343214.1(229056-439293)
    zebrafish
    (Danio rerio)    		 Actinopterygii xirp2a6
    xirp2b6
    		 xin actin-binding repeat containing 2b
    		 36(a)
    35(a)
    		 1 ↔ many
    1 ↔ many
    		 6(10080895-10144304) ENSDARG00000071113
    9(50511653-50556206) ENSDARG00000091090


    ENSEMBL Gene Tree for XIRP2 (if available)
    TreeFam Gene Tree for XIRP2 (if available)

    Paralogs
    for XIRP2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for XIRP2 gene
    XIRP12  

    XIRP2 for paralogs           About GeneDecksing



    Genomic Variants
    for XIRP2 gene

    (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 XIRP2 (see all 8216)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1402087201,2
    		Cuntested1167760256(+) ACCAGA/GGAATA 6 R syn10--------
    rs1379940341,2
    		--167743024(+) TGACTC/GAAAGG 3 -- us2k10--------
    rs1148332611,2
    		C,F--167743038(+) GCCTCA/GTTTCA 3 -- us2k11Minor allele frequency- G:0.01WA 118
    rs1824179261,2
    		--167743104(+) CCCATC/TGCAAC 3 -- us2k10--------
    rs1866392881,2
    		--167743216(+) TCATAA/CTTACC 3 -- us2k10--------
    rs1420574861,2
    		C--167743262(+) TGCCAC/TAACTT 3 -- us2k10--------
    rs1156313291,2
    		F--167743292(+) TTTATA/GTCTAA 3 -- us2k11Minor allele frequency- G:0.01WA 118
    rs104973031,2
    		C,F,H--167743294(+) TATATC/GTAACC 3 -- us2k128Minor allele frequency- G:0.12NS NA EA 2662
    rs730243241,2
    		C,F--167743306(+) GTCACC/TTTACA 3 -- us2k14Minor allele frequency- T:0.21WA CSA 124
    rs1463206741,2
    		C--167743315(+) CATGTA/TCAATA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for XIRP2 (167744997 - 167994997 bp, first 250kb of XIRP2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for XIRP2 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721094CNV Deletion23290073
    esv2663157CNV Deletion23128226
    esv2721093CNV Deletion23290073
    esv2672990CNV Deletion23128226
    esv2512957CNV Deletion19546169
    esv2390072CNV Deletion18987734
    nsv214042CNV Insertion16902084
    nsv875377CNV Loss21882294
    nsv508177CNV Loss20534489
    nsv213355CNV Loss16902084

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing XIRP2
    DNA2.0 Custom Variant and Variant Library Synthesis for XIRP2

    Disorders / Diseases
    for XIRP2 gene

    (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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    TryGeneCards Plus    		 OMIM gene information: 609778    OMIM disorders: --

    4 diseases for XIRP2:    About MalaCards
    osteochondrosis    heroin dependence    pulmonary function    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for XIRP2:
    Osteochondrosis

    XIRP2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): XIRP2
    Human Genome Epidemiology (HuGE) Navigator: XIRP2 (3 documents)

    Export disorders for XIRP2 gene to outside databases

    Publications
    for XIRP2 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)
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    PubMed articles for XIRP2 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with XIRP2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Xin repeats define a novel actin-binding motif. (PubMed id 15454575)1, 2, 3 Pacholsky D.... van der Ven P.F.M. (J. Cell Sci. 2004)
    2. Myomaxin is a novel transcriptional target of MEF2A that encodes a Xin-related alpha-actinin-interacting protein. (PubMed id 17046827)1, 3, 9 Huang H.-T.... Naya F.J. (J. Biol. Chem. 2006)
    3. SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. (PubMed id 16205742)1, 4 Blasi F....Maestrini E. (Eur. J. Hum. Genet. 2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Localization of the novel Xin protein to the adherens junction complex in cardiac and skeletal muscle during development. (PubMed id 12203715)1, 3 Sinn H.W....Lin J.J. (Dev. Dyn. 2002)
    6. A cohesin-RAD21 interactome. (PubMed id 22145905)1 Panigrahi A.K....Pati D. (Biochem. J. 2012)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (Nature 2010)
    9. Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction. (PubMed id 20520587)1 Nielsen D.A....Kreek M.J. (Psychiatr. Genet. 2010)
    10. Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study. (PubMed id 17903306)4 Newton-Cheh C....Larson M.G. (BMC Med. Genet. 2007)

    External Searches for XIRP2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing XIRP2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 129446 HGNC: 14303 AceView: CMYA3 Ensembl:ENSG00000163092 euGenes: HUgn129446
    ECgene: XIRP2 H-InvDB: XIRP2

    Other Databases showing XIRP2 gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing XIRP2 gene

    (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 XIRP2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for XIRP2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for XIRP2 gene:
    Search GeneIP for patents involving XIRP2

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



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