XIRP2

Protein-coding gene in humans

XIRP2
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4F14

Identifiers
AliasesXIRP2, CMYA3, xin actin binding repeat containing 2
External IDsOMIM: 609778; MGI: 2685198; HomoloGene: 19388; GeneCards: XIRP2; OMA:XIRP2 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for XIRP2
Genomic location for XIRP2
Band2q24.3Start166,888,480 bp[1]
End167,259,753 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for XIRP2
Genomic location for XIRP2
Band2|2 C1.3Start67,004,178 bp[2]
End67,356,959 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • deltoid muscle

  • biceps brachii

  • Skeletal muscle tissue of rectus abdominis

  • quadriceps femoris muscle

  • vastus lateralis muscle

  • tibialis anterior muscle

  • Skeletal muscle tissue of biceps brachii

  • myocardium of left ventricle

  • body of tongue

  • muscle of thigh
Top expressed in
  • muscle of thigh

  • skeletal muscle tissue

  • ventricle

  • quadriceps femoris muscle

  • interventricular septum

  • left ventricle

  • zone of skin

  • esophagus

  • lip

  • superior frontal gyrus
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • alpha-actinin binding
  • actin binding
  • actin filament binding
Cellular component
  • cell junction
  • Z discdkac
  • stress fiber
  • focal adhesion
  • filamentous actin
Biological process
  • heart development
  • cell-cell junction organization
  • cardiac muscle tissue morphogenesis
  • ventricular septum development
  • actin cytoskeleton organization
  • biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

129446

241431

Ensembl

ENSG00000163092

ENSMUSG00000027022

UniProt

A4UGR9

Q4U4S6

RefSeq (mRNA)

NM_152381
NM_001079810
NM_001199143
NM_001199144
NM_001199145

NM_001024618
NM_001083919

RefSeq (protein)

NP_001073278
NP_001186072
NP_001186073
NP_001186074
NP_689594

NP_001019789
NP_001077388

Location (UCSC)Chr 2: 166.89 – 167.26 MbChr 2: 67 – 67.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Xin actin-binding repeat-containing protein 2 is a protein that in humans is encoded by the XIRP2 gene.[5][6][7][8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163092 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027022 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Huang HT, Brand OM, Mathew M, Ignatiou C, Ewen EP, McCalmon SA, Naya FJ (Dec 2006). "Myomaxin is a novel transcriptional target of MEF2A that encodes a Xin-related alpha-actinin-interacting protein". J Biol Chem. 281 (51): 39370–9. doi:10.1074/jbc.M603244200. PMID 17046827.
  6. ^ Sinn HW, Balsamo J, Lilien J, Lin JJ (Aug 2002). "Localization of the novel Xin protein to the adherens junction complex in cardiac and skeletal muscle during development". Dev Dyn. 225 (1): 1–13. doi:10.1002/dvdy.10131. PMID 12203715. S2CID 23393425.
  7. ^ Pacholsky D, Vakeel P, Himmel M, Lowe T, Stradal T, Rottner K, Furst DO, van der Ven PF (Oct 2004). "Xin repeats define a novel actin-binding motif". J Cell Sci. 117 (Pt 22): 5257–68. doi:10.1242/jcs.01406. PMID 15454575. S2CID 5643531.
  8. ^ "Entrez Gene: CMYA3 cardiomyopathy associated 3".

Further reading

  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
  • Blasi F, Bacchelli E, Carone S, et al. (2006). "SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample". Eur. J. Hum. Genet. 14 (1): 123–6. doi:10.1038/sj.ejhg.5201444. PMID 16205742.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Pan PW, Li K, Tuggle CK, et al. (2004). "Sequencing, tissue distribution and physical mapping of the porcine homologue of cardiomyopathy associated 3 (CMYA3)". Anim. Genet. 34 (6): 473–4. doi:10.1046/j.0268-9146.2003.01059.x. PMID 14687087.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
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