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Aliases for XIRP2 Gene

Aliases for XIRP2 Gene

  • Xin Actin-Binding Repeat Containing 2 2 3
  • Cardiomyopathy-Associated Protein 3 3 4
  • Cardiomyopathy Associated 3 2 3
  • Myomaxin 2 3
  • Beta-Xin 3 4
  • Xeplin 3 4
  • CMYA3 3 4
  • Xin Actin-Binding Repeat-Containing Protein 2 3
  • Xin Repeat Protein 2 3
  • CMYA3, 6

External Ids for XIRP2 Gene

Previous Symbols for XIRP2 Gene

  • CMYA3

Summaries for XIRP2 Gene

GeneCards Summary for XIRP2 Gene

XIRP2 (Xin Actin-Binding Repeat Containing 2) is a Protein Coding gene. Diseases associated with XIRP2 include osteochondrosis. GO annotations related to this gene include actin binding. An important paralog of this gene is XIRP1.

UniProtKB/Swiss-Prot for XIRP2 Gene

  • Protects actin filaments from depolymerization.

Gene Wiki entry for XIRP2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XIRP2 Gene

Genomics for XIRP2 Gene

Genomic Location for XIRP2 Gene

Start:
166,888,487 bp from pter
End:
167,259,753 bp from pter
Size:
371,267 bases
Orientation:
Plus strand

Genomic View for XIRP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for XIRP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XIRP2 Gene

Regulatory Elements for XIRP2 Gene

Proteins for XIRP2 Gene

  • Protein details for XIRP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A4UGR9-XIRP2_HUMAN
    Recommended name:
    Xin actin-binding repeat-containing protein 2
    Protein Accession:
    A4UGR9
    Secondary Accessions:
    • A0PJ94
    • B2BBS0
    • B2BBS1
    • B2BBS4
    • B3KVH0
    • J3KNB1
    • Q53R52
    • Q5MJ67
    • Q702N7
    • Q86T36
    • Q86T38
    • Q86T46
    • Q86T51
    • Q86T53
    • Q86T55
    • Q86T79
    • Q86TB6
    • Q8N1M9
    • Q8N3R5
    • Q8TBV6

    Protein attributes for XIRP2 Gene

    Size:
    3374 amino acids
    Molecular mass:
    382300 Da
    Quaternary structure:
    • Interacts with ACTN2 (By similarity). Interacts with F-actin.
    Miscellaneous:
    • Xin means heart in Chinese
    SequenceCaution:
    • Sequence=AAH18673.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAY24138.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD38624.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=CAD89958.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305}; Sequence=CAD91141.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for XIRP2 Gene

    Alternative splice isoforms for XIRP2 Gene

neXtProt entry for XIRP2 Gene

Proteomics data for XIRP2 Gene at MOPED

Post-translational modifications for XIRP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for XIRP2 Gene

Domains for XIRP2 Gene

Protein Domains for XIRP2 Gene

UniProtKB/Swiss-Prot:

XIRP2_HUMAN
Domain:
  • Xin repeats bind F-actin:
    • A4UGR9
Family:
  • Belongs to the Xin family.:
    • A4UGR9
Similarity:
  • Contains 28 Xin repeats.:
    • A4UGR9
genes like me logo Genes that share domains with XIRP2: view

No data available for Gene Families for XIRP2 Gene

Function for XIRP2 Gene

Molecular function for XIRP2 Gene

UniProtKB/Swiss-Prot Function: Protects actin filaments from depolymerization.

Gene Ontology (GO) - Molecular Function for XIRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding --
GO:0008270 zinc ion binding --
GO:0051393 alpha-actinin binding IEA --
genes like me logo Genes that share ontologies with XIRP2: view
genes like me logo Genes that share phenotypes with XIRP2: view

miRNA for XIRP2 Gene

miRTarBase miRNAs that target XIRP2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for XIRP2 Gene

Localization for XIRP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XIRP2 Gene

Cell junction. Note=Colocalizes with actin stress fibers. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for XIRP2 Gene COMPARTMENTS Subcellular localization image for XIRP2 gene
Compartment Confidence
nucleus 2
cytosol 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for XIRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030018 Z disc IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with XIRP2: view

Pathways for XIRP2 Gene

SuperPathways for XIRP2 Gene

No Data Available

Interacting Proteins for XIRP2 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000295237%0d%0a9606.ENSP00000327145%0d%0a9606.ENSP00000366326%0d%0a9606.ENSP00000380505%0d%0a
Selected Interacting proteins: ENSP00000295237 A4UGR9-XIRP2_HUMAN for XIRP2 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for XIRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003281 ventricular septum development IEA --
GO:0030036 actin cytoskeleton organization IEA --
GO:0045216 cell-cell junction organization IEA --
GO:0055008 cardiac muscle tissue morphogenesis IEA --
genes like me logo Genes that share ontologies with XIRP2: view

No data available for Pathways by source for XIRP2 Gene

Transcripts for XIRP2 Gene

Unigene Clusters for XIRP2 Gene

Xin actin-binding repeat containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for XIRP2 Gene

No ASD Table

Relevant External Links for XIRP2 Gene

GeneLoc Exon Structure for
XIRP2
ECgene alternative splicing isoforms for
XIRP2

Expression for XIRP2 Gene

mRNA expression in normal human tissues for XIRP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for XIRP2 Gene

This gene is overexpressed in Muscle - Skeletal (40.7) and Heart - Left Ventricle (10.3).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for XIRP2 Gene

SOURCE GeneReport for Unigene cluster for XIRP2 Gene Hs.73680

genes like me logo Genes that share expressions with XIRP2: view

Orthologs for XIRP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for XIRP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia XIRP2 36
  • 99.27 (n)
  • 98.84 (a)
XIRP2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia XIRP2 36
  • 86.49 (n)
  • 80.07 (a)
XIRP2 37
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XIRP2 36
  • 81.94 (n)
  • 76.3 (a)
XIRP2 37
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xirp2 36
  • 79.95 (n)
  • 72.86 (a)
Xirp2 16
Xirp2 37
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia XIRP2 37
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia XIRP2 37
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xirp2 36
  • 79.87 (n)
  • 73.41 (a)
lizard
(Anolis carolinensis)
Reptilia XIRP2 37
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii xirp2a 37
  • 36 (a)
OneToMany
xirp2b 37
  • 35 (a)
OneToMany
Species with no ortholog for XIRP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for XIRP2 Gene

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

Paralogs for XIRP2 Gene

Paralogs for XIRP2 Gene

genes like me logo Genes that share paralogs with XIRP2: view

Variants for XIRP2 Gene

Sequence variations from dbSNP and Humsavar for XIRP2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs869000 -- 167,006,464(-) ACAAC(A/G)GTCTT intron-variant
rs871213 -- 167,005,513(+) AACTG(A/G)GAATT intron-variant
rs891384 -- 167,074,875(+) CTACC(A/C)TGGCC intron-variant
rs919487 -- 167,046,939(-) ttttt(C/T)ctttc intron-variant
rs922536 -- 167,218,878(+) CTGTC(A/G)TGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for XIRP2 Gene

Variant ID Type Subtype PubMed ID
nsv508177 CNV Loss 20534489
nsv3019 CNV Loss 18451855
nsv875376 CNV Gain 21882294
esv2512957 CNV Deletion 19546169
esv2390072 CNV Deletion 18987734
esv2721093 CNV Deletion 23290073
esv2663157 CNV Deletion 23128226
nsv498943 CNV Loss 21111241
esv2672990 CNV Deletion 23128226
nsv214042 CNV Insertion 16902084
esv2721094 CNV Deletion 23290073
nsv213355 CNV Loss 16902084
nsv875377 CNV Loss 21882294
nsv875378 CNV Gain 21882294

Relevant External Links for XIRP2 Gene

HapMap Linkage Disequilibrium report
XIRP2
Human Gene Mutation Database (HGMD)
XIRP2

Disorders for XIRP2 Gene

(1) MalaCards Diseases for XIRP2 Gene

Search for XIRP2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for XIRP2 Gene

Relevant External Links for XIRP2

Genetic Association Database (GAD)
XIRP2
Human Genome Epidemiology (HuGE) Navigator
XIRP2
genes like me logo Genes that share disorders with XIRP2: view

No data available for UniProtKB/Swiss-Prot for XIRP2 Gene

Publications for XIRP2 Gene

  1. Xin repeats define a novel actin-binding motif. (PMID: 15454575) Pacholsky D. … van der Ven P.F.M. (J. Cell Sci. 2004) 2 3 4
  2. Myomaxin is a novel transcriptional target of MEF2A that encodes a Xin-related alpha-actinin-interacting protein. (PMID: 17046827) Huang H.-T. … Naya F.J. (J. Biol. Chem. 2006) 2 3 23
  3. Localization of the novel Xin protein to the adherens junction complex in cardiac and skeletal muscle during development. (PMID: 12203715) Sinn H.W. … Lin J.J. (Dev. Dyn. 2002) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. (PMID: 16205742) Blasi F. … Maestrini E. (Eur. J. Hum. Genet. 2006) 3 49

Products for XIRP2 Gene

Sources for XIRP2 Gene

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