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XIRP2 Gene

protein-coding   GIFtS: 46

GC02P167469
xin actin-binding repeat containing 2
(Previous name: cardiomyopathy associated 3 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: CMYA3)
Services    

Aliases &
Descriptions
for XIRP2

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
Beta-xin 3
CMYA3 2, 3, 5
DKFZp451G055 2
DKFZp779G1747 2
FLJ39111 2
FLJ40200 2
MYOMAXIN 2
Xeplin 3
xeplin 2
Descriptions
Cardiomyopathy-associated protein 3 3
cardiomyopathy associated 3 1, 2
xin actin-binding repeat containing 2 2
xin repeat protein 2 2
External Ids
HGNC: 143031
Entrez Gene: 1294462
UniProtKB: A4UGR93
Ensembl: ENSG000001630927
Search outside databases for aliases for XIRP2 gene

Summaries
for XIRP2

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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

Gene Wiki entry for XIRP2

Genomic Location
for XIRP2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 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)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P167469:     (about GC identifiers)

Start:
 167,453,243 bp from pter
End:
 167,824,509 bp from pter
Size:
 371,267 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000002.10  NT_005403.16  

Proteins
for XIRP2

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 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
Subcellular location: Cell junction. Note=Colocalizes with actin stress fibers (By similarity)
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;
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   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (2 alternative transcripts): 
    NP_001073278.1  NP_689594.4  


    ENSEMBL proteins: 
    ENSP00000386603 ENSP00000327586 ENSP00000386454 ENSP00000386724 ENSP00000386619 ENSP00000295237 
    ENSP00000386840 ENSP00000386981 ENSP00000387255 


    Human Recombinant Proteins 
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    Browse Abcam for Recombinant Proteins
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030054 cell junction IEA--
    About this table

    Antibodies for XIRP2: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for XIRP2

    Assays for XIRP2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for XIRP2

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro domain/family:
     IPR012510 Actin-binding_Xin_repeat


       GeneDecks  XIRP2 for the domains selected above  
    About GeneDecksing

    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

    Gene Function
    for XIRP2

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (XIRP2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (CMYA3)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_152381

                  Applied Biosystems Silencer® siRNAs for XIRP2

                  Sigma-Aldrich siRNA for XIRP2  
                         Sigma-Aldrich shRNA for XIRP2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for XIRP2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001079810
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001079810
                                     untagged cDNA clones in CMV expression vector (see all 5): BC022446 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_152381

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

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779 actin binding IEA--
    About this table

    Pathways & Interactions
    for XIRP2

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    2 Interacting proteins for XIRP2 (ENSP000002952373) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTN2ENSP000003555373STRING (score=.814)
    MEF2AENSP000002843683STRING (score=.8)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030036 actin cytoskeleton organization IEA--
    About this table

    Drugs & Compounds
    for XIRP2

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for XIRP2

    Transcripts
    for XIRP2

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (XIRP2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (CMYA3)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_152381

                  Sigma-Aldrich siRNA for XIRP2  
                         Sigma-Aldrich shRNA for XIRP2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001079810  NM_152381  

    REFSEQ mRNAs for XIRP2 gene (2 alternative transcripts): 

    NM_001079810.2   NM_152381.4   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001079810  NM_152381  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001079810
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001079810
                                     untagged cDNA clones in CMV expression vector (see all 5): BC022446 

    Additional cDNA 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 

    24/200 AceView cDNA sequences (see all 200 ):

    BX647448 BX501590 F32854 BC022888 AL832452 BC022887 BQ954214 Z28678 
    AJ626901 AI803678 F21569 AA111946 AK122889 F28773 AK096907 AK056582 
    AL596757 AK096430 BX501084 CF552385 BX500581 AA195845 BX647645 BC070143 

    Unigene Cluster for XIRP2:

    Xin actin-binding repeat containing 2
    Hs.73680  [show with all ESTs]
    Unigene Representative Sequence: NM_152381


    GeneLoc Exon Structure

    9 Ensembl transcripts including schematic representations:
    ENST00000409966  ENST00000328983  ENST00000409043  ENST00000409756  ENST00000409728  ENST00000295237  
    ENST00000409195  ENST00000409605  ENST00000409273  

    Expression
    for XIRP2

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    XIRP2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for XIRP2

    1 / 2

    3 probe-sets matching XIRP2 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    46684_at2 U95-B 1 1.00 1.00 1.00 1.00 -- -- -- -- --

    		228794_at2 U133-B 1 1.00 1.00 -- -- -- -- -- -- --

    		228794_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  XIRP2 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.73680

    Orthologs
    for XIRP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for XIRP2 gene from 4 species
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 XIRP21   -- xin actin-binding repeat containing 2 83.51(n)
    78.2(a)    		 478778  XM_535943.2  XP_535943.2 
    rat
    (Rattus norvegicus)    		 Xirp21   -- xin actin-binding repeat containing 2 79.86(n)
    73.44(a)    		 311098  NM_201989.1  NP_973718.1 
    mouse
    (Mus musculus)    		 Xirp21, 5 25
    		 xin actin-binding repeat containing 21, 5 80.1(n)1
    72.99(a)1    		 2414311  NM_001083919.11  NP_001077388.11 
     AI4520895  AI6446915  (see all 23)
    zebrafish
    (Danio rerio)    		 LOC5597461   -- similar to Epithelial protein lost in neoplasm 54.02(n)
    44.85(a)    		 559746  XM_683113.3  XP_688205.3 
    About this table        Species with no ortholog for XIRP2

    ENSEMBL Gene Tree for XIRP2

    Paralogs
    for XIRP2

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for XIRP2 gene
    XIRP12  

    SNPs/Variants
    for XIRP2

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/1546 NCBI SNPs in XIRP2 are shown (see all 1546 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 188)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    --
    rs13977031,2
    		A,C,F,H,O167466639(-) AAAGGT/CGGGTA 2 -- ng5112Minor allele frequency- C:0.37EA NA EU WA 1054
    --
    rs75956071,2
    		A,C,F,H167467394(+) GTACAC/ATTTGC 2 -- ng514Minor allele frequency- A:0.08EU EA WA 392
    --
    rs10489811,2
    		C,F,H,O167824433(+) TGCTGC/ATGCTT 2 -- ut315Minor allele frequency- A:0.19MN EU EA WA 600
    --
    rs75991521,2
    		A,C,F,H167468194(+) TATCAT/CTGATA 2 -- ng5116Minor allele frequency- C:0.32EA NA EU WA 1472
    --
    rs124784291,2
    		A,C,F,H167467954(+) AAAATT/CGTGTG 2 -- ng514Minor allele frequency- C:0.12EU EA WA 386
    rs37490051,2
    		C,F,H167823571(+) CATCTA/GGAATC 2 R/G mis1 ut3112Minor allele frequency- G:0.08EA NA EU WA 2444
    rs75911071,2
    		C,F,H167811136(+) AGCAAT/CAAAAA 2 T/I mis1 int18Minor allele frequency- C:0.02EU EA WA 838
    rs168533061,2
    		C,F,H167808042(+) GGGCTT/CATTCT 2 H/Y mis1 int111Minor allele frequency- C:0.27NA EU EA WA 968
    rs168533281,2
    		C,F,H167814331(+) CCACAG/ACTATG 2 N/S mis1 int1 ese311Minor allele frequency- A:0.20NA EU EA WA 968
    rs37490031,2
    		C,F,H167815597(+) CAGTTA/GTGTTG 2 Y/C mis1 int112Minor allele frequency- G:0.09EA NA EU WA 2274
    About this table

    HapMap Linkage Disequilibrium images for XIRP2 (up to first 250kb)

    Disorders & Mutations
    for XIRP2

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 609778

    Human Genome Epidemiology Navigator: XIRP2 (1 document)

    Medical News
    for XIRP2

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for XIRP2

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/12 PubMed articles for XIRP2 gene (see all 12 ):

    Search for XIRP2

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing XIRP2

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 129446 HGNC: 14303 AceView: CMYA3 Ensembl:ENSG00000163092 euGenes: HUgn129446
    ECgene: XIRP2 H-InvDB: XIRP2

    Other Databases showing XIRP2

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing XIRP2

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    		   --

    Licensable Technologies
    for XIRP2

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for XIRP2

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for XIRP2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
    		  Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for XIRP2-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for XIRP2 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for XIRP2 Browse small molecules at Sigma-Aldrich
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     Search Novus for antibodies for XIRP2

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