XIRP2

Summary

Gene Symbol: XIRP2
Description: xin actin binding repeat containing 2
Alias: CMYA3, xin actin-binding repeat-containing protein 2, beta-xin, cardiomyopathy associated 3, cardiomyopathy-associated protein 3, myomaxin, xeplin, xin repeat protein 2
Species: human
Products:     XIRP2

Top Publications

  1. Pacholsky D, Vakeel P, Himmel M, Lowe T, Stradal T, Rottner K, et al. Xin repeats define a novel actin-binding motif. J Cell Sci. 2004;117:5257-68 pubmed
    ..Very similar repeats were also found in 'Xin-repeat protein 2' (XIRP2), a novel protein that seems to be expressed mainly in striated muscles...
  2. Huang H, Brand O, Mathew M, Ignatiou C, Ewen E, McCalmon S, et al. Myomaxin is a novel transcriptional target of MEF2A that encodes a Xin-related alpha-actinin-interacting protein. J Biol Chem. 2006;281:39370-9 pubmed
    ..This gene, called myomaxin, was identified as a gene markedly down-regulated in MEF2A knock-out hearts...
  3. Kley R, Maerkens A, Leber Y, Theis V, Schreiner A, van der Ven P, et al. A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients. Mol Cell Proteomics. 2013;12:215-27 pubmed publisher
  4. Dai G, Pu Z, Cheng X, Yin J, Chen J, Xu T, et al. Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients. Pediatr Cardiol. 2019;: pubmed publisher
    ..3799C > T, p.R1267X; c.4444G > T, p.E1482X). In sporadic cases, the two heterozygous mutations in XIRP2 were identified. Then we performed an exome-wide association study with 30 case and 100 control subjects...
  5. Matsunami N, Shanmugam H, Baird L, Stevens J, Byrne J, Barnhart D, et al. Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia. Birth Defects Res. 2018;110:610-617 pubmed publisher
    ..This patient also carried a missense variant predicted to be damaging in XIRP2 (aka Myomaxin), a transcriptional target of MEF2A...
  6. Wang Q, Lin J, Erives A, Lin C, Lin J. New insights into the roles of Xin repeat-containing proteins in cardiac development, function, and disease. Int Rev Cell Mol Biol. 2014;310:89-128 pubmed publisher
    ..Diverse vertebrates including mammals possess two paralogous genes, Xinα (or Xirp1) and Xinβ (or Xirp2), and this review focuses on the role of their encoded proteins in cardiac muscles...
  7. Francis S, Krey J, Krystofiak E, Cui R, Nanda S, Xu W, et al. A short splice form of Xin-actin binding repeat containing 2 (XIRP2) lacking the Xin repeats is required for maintenance of stereocilia morphology and hearing function. J Neurosci. 2015;35:1999-2014 pubmed publisher
    ..One such protein is Xin-actin binding repeat containing 2 (XIRP2), an actin-cross-linking protein previously reported to be specifically expressed in striated muscle...
  8. Wypchło M, Korwin Kossakowska A, Bereznowski A, Hecold M, Lewczuk D. Polymorphisms in selected genes and analysis of their relationship with osteochondrosis in Polish sport horse breeds. Anim Genet. 2018;49:623-627 pubmed publisher
    ..Seven SNPs located in the MATN1, CPVL, HYAL1, XIRP2, FRZB, COL5A2 and IGF1 genes were found to be associated with occurrence of osteochondrotic lesions in different ..
  9. Scheffer D, Zhang D, Shen J, Indzhykulian A, Karavitaki K, Xu Y, et al. XIRP2, an actin-binding protein essential for inner ear hair-cell stereocilia. Cell Rep. 2015;10:1811-8 pubmed publisher
    ..that different isoforms of this protein are expressed and differentially located: short splice forms (also called XEPLIN) are targeted more to stereocilia, whereas two long isoforms containing a XIN-repeat domain are in both ..

More Information

Publications25

  1. Do D, Strathe A, Ostersen T, Pant S, Kadarmideen H. Genome-wide association and pathway analysis of feed efficiency in pigs reveal candidate genes and pathways for residual feed intake. Front Genet. 2014;5:307 pubmed publisher
    ..Several genes such as xin actin-binding repeat-containing protein 2 (XIRP2),tetratricopeptide repeat domain 29 (TTC29),suppressor of glucose, autophagy associated 1 (SOGA1),MAS1,G-protein-..
  2. Wang Q, Lin J, Chan S, Lin J. The Xin repeat-containing protein, mXinβ, initiates the maturation of the intercalated discs during postnatal heart development. Dev Biol. 2013;374:264-80 pubmed publisher
    ..human cardiomyopathy-associated (CMYA)/Xin actin-binding repeat-containing protein (XIRP) genes (CMYA1/XIRP1 and CMYA3/XIRP2, respectively) encode proteins localized to ICDs...
  3. McDonough C, Magvanjav O, Sá A, El Rouby N, Dave C, Deitchman A, et al. Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients From the PEAR Study (Pharmacogenomic Evaluation of Antihypertensive Responses). Circ Genom Precis Med. 2018;11:e001854 pubmed publisher
    ..SNPs associated with baseline PRA that passed BP response prioritization were in/near the genes CHD9, XIRP2, and GHR...
  4. Li X, Wu W, Xing R, Wong S, Liu Y, Fang X, et al. Distinct Subtypes of Gastric Cancer Defined by Molecular Characterization Include Novel Mutational Signatures with Prognostic Capability. Cancer Res. 2016;76:1724-32 pubmed publisher
    ..In the former group, six previously unreported (XIRP2, NBEA, COL14A1, CNBD1, ITGAV, and AKAP6) and 12 recurrent mutated genes exhibited high mutation prevalence (≥..
  5. Camacho Londoño J, Tian Q, Hammer K, Schröder L, Camacho Londoño J, Reil J, et al. A background Ca2+ entry pathway mediated by TRPC1/TRPC4 is critical for development of pathological cardiac remodelling. Eur Heart J. 2015;36:2257-66 pubmed publisher
    ..as well as the expression of foetal genes (ANP, BNP) and genes regulated by Ca(2+)-dependent signalling (RCAN1-4, myomaxin) was reduced in TRPC1/C4 knockout (DKO), but not in TRPC1- or TRPC4-single knockout mice...
  6. Long P, Larsen B, Evans J, Olson T. Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy. J Am Heart Assoc. 2015;4: pubmed publisher
    ..Additionally, recessive compound heterozygous truncating mutations were identified in XIRP2, a member of the ancient Xin gene family, which governs intercalated disc (ICD) maturation...
  7. Tatura R, Kraus T, Giese A, Arzberger T, Buchholz M, Höglinger G, et al. Parkinson's disease: SNCA-, PARK2-, and LRRK2- targeting microRNAs elevated in cingulate gyrus. Parkinsonism Relat Disord. 2016;33:115-121 pubmed publisher
    ..Zinc Finger Protein 440) by miR-199b, MTFMT (Mitochondrial Methionyl-tRNA Formyltransferase) by miR-488 and XIRP2 (Xin Actin Binding Repeat Containing) possibly controlled by miR-544a...
  8. Huang L, Wu K, Zhang L, Wang Q, Tang S, Wu Q, et al. Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population. J Am Heart Assoc. 2018;7: pubmed publisher
    ..Human cardiomyopathy-associated 1 (XIRP1) and 3 (XIRP2) are intercalated disc-associated, Xin repeats-containing proteins...
  9. Abu Amero K, Bosley T, Kondkar A, Oystreck D, Khan A. CCDD Phenotype Associated with a Small Chromosome 2 Deletion. Semin Ophthalmol. 2015;30:435-42 pubmed publisher
    ..3) that encompassed a portion of only one gene, the Xin Actin-binding Repeat containing 2 (Gene Symbol XIRP2; NM_001079810)...
  10. Leber Y, Ruparelia A, Kirfel G, van der Ven P, Hoffmann B, Merkel R, et al. Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage. Hum Mol Genet. 2016;25:2776-2788 pubmed
    ..Analysis of cardiomyocytes from Xirp1 and Xirp2 deficient animals indicates that both Xin actin-binding repeat-containing proteins stabilize FLNc selectively in ..
  11. Nielsen D, Ji F, Yuferov V, Ho A, He C, Ott J, et al. Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction. Psychiatr Genet. 2010;20:207-14 pubmed publisher
    ..Of the top 500 variants in African-Americans (point-wise P< or =0.0238), three variants are in the cardiomyopathy associated 3 gene CMYA3...
  12. Blasi F, Bacchelli E, Carone S, Toma C, Monaco A, Bailey A, et al. SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. Eur J Hum Genet. 2006;14:123-6 pubmed
    ..association with autism has been reported for single-nucleotide polymorphisms (SNPs) in the SLC25A12 and CMYA3 genes on chromosome 2q...
  13. Pan P, Li K, Tuggle C, Yu M, Liu B, Zhao S. Sequencing, tissue distribution and physical mapping of the porcine homologue of cardiomyopathy associated 3 (CMYA3). Anim Genet. 2003;34:473-4 pubmed
  14. Eulitz S, Sauer F, Pelissier M, Boisguerin P, Molt S, Schuld J, et al. Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling. Mol Biol Cell. 2013;24:3215-26 pubmed publisher
    The Xin actin-binding repeat-containing proteins Xin and XIRP2 are exclusively expressed in striated muscle cells, where they are believed to play an important role in development...
  15. Schaarschmidt H, Ellinghaus D, Rodriguez E, Kretschmer A, Baurecht H, Lipinski S, et al. A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis. J Allergy Clin Immunol. 2015;136:802-6 pubmed publisher
  16. Sinn H, Balsamo J, Lilien J, Lin J. Localization of the novel Xin protein to the adherens junction complex in cardiac and skeletal muscle during development. Dev Dyn. 2002;225:1-13 pubmed
    ..Furthermore, temporal and spatial expressions of Xin in relation to intercalated disc proteins and thin filament proteins suggest roles for Xin in the formation of cell-cell contacts and possibly in myofibrillogenesis. ..