Free for academic non-profit institutions. Other users need a Commercial license

XIRP2 Gene(Protein Coding)

Xin Actin Binding Repeat Containing 2

GCID:
GC02P166888
GIFtS:
50
Genes Participants
UDN Logo

Aliases for XIRP2 Gene

Aliases for XIRP2 Gene

  • Xin Actin Binding Repeat Containing 2 2 3 5
  • 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 2 3
  • Xin Repeat Protein 2 3

External Ids for XIRP2 Gene

Previous HGNC Symbols for XIRP2 Gene

  • CMYA3

Previous GeneCards Identifiers for XIRP2 Gene

  • GC02P167469
  • GC02P167744
  • GC02P159640

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 Myopathy, Myofibrillar, 5 and Osteochondrosis. GO annotations related to this gene include actin binding and alpha-actinin 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

Products:

  1. Regulatory Element

Regulatory Elements for XIRP2 Gene

Enhancers for XIRP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around XIRP2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the XIRP2 gene promoter:

Genomic Location for XIRP2 Gene

Chromosome:
2
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

Genes around XIRP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XIRP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XIRP2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for XIRP2 Gene

Proteins for XIRP2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for XIRP2 Gene

Proteomics data for XIRP2 Gene at MOPED

Protein Expression for XIRP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for XIRP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for XIRP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for XIRP2 Gene

Domains & Families for XIRP2 Gene

Gene Families for XIRP2 Gene

HGNC:

Protein Domains for XIRP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for XIRP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A4UGR9

UniProtKB/Swiss-Prot:

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

Function for XIRP2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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 IEA --
genes like me logo Genes that share ontologies with XIRP2: view

Phenotypes for XIRP2 Gene

MGI mutant phenotypes for XIRP2:
inferred from 3 alleles
GenomeRNAi human phenotypes for XIRP2:
genes like me logo Genes that share phenotypes with XIRP2: view

Animal Models for XIRP2 Gene

MGI Knock Outs for XIRP2:

miRNA for XIRP2 Gene

miRTarBase miRNAs that target XIRP2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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

No data available for Gene Ontology (GO) - Cellular Components for XIRP2 Gene

Pathways & Interactions for XIRP2 Gene

SuperPathways for XIRP2 Gene

PathCards logoMore details on SuperPathways for XIRP2
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:0007507 heart development IEA --
GO:0030036 actin cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with XIRP2: view

No data available for Pathways by source and SIGNOR curated interactions for XIRP2 Gene

Drugs & Compounds for XIRP2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for XIRP2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for XIRP2 Gene

(5) REFSEQ mRNAs :
(39) Additional mRNA sequences :
(200) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for XIRP2 Gene

Xin actin-binding repeat containing 2:
Representative Sequences:

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues for XIRP2 Gene

mRNA expression in normal human tissues for XIRP2 Gene
mRNA expression by BioGPS for XIRP2 GenemRNA expression by GTEx 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 (x40.7) and Heart - Left Ventricle (x10.3).

Protein differential expression in normal tissues from HIPED for XIRP2 Gene

This gene is overexpressed in Urinary Bladder (27.6), Lung (7.6), and Heart (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for XIRP2 Gene



SOURCE GeneReport for Unigene cluster for XIRP2 Gene Hs.73680

genes like me logo Genes that share expression patterns with XIRP2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for XIRP2 Gene

Orthologs for XIRP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for XIRP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia XIRP2 35
  • 86.49 (n)
  • 80.07 (a)
XIRP2 36
  • 69 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia XIRP2 35
  • 81.94 (n)
  • 76.3 (a)
XIRP2 36
  • 65 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Xirp2 35
  • 79.95 (n)
  • 72.86 (a)
Xirp2 16
Xirp2 36
  • 63 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia XIRP2 35
  • 99.27 (n)
  • 98.84 (a)
XIRP2 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Xirp2 35
  • 79.87 (n)
  • 73.41 (a)
oppossum
(Monodelphis domestica)
 Mammalia XIRP2 36
  • 61 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia XIRP2 36
  • 59 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia XIRP2 36
  • 47 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii xirp2a 36
  • 36 (a)
 OneToMany
xirp2b 36
  • 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
rs16853305 - 167,243,265(+) CCCAA(C/G)CCATC intron-variant, reference, missense
rs16853306 - 167,243,286(+) GGGCT(C/T)ATTCT intron-variant, reference, missense
rs7588159 - 167,246,107(+) CATCA(C/T)TGAAG intron-variant, reference, missense
rs7591107 - 167,246,380(+) AGCAA(A/C/T)AAAAA intron-variant, reference, missense
rs16853309 - 167,246,794(+) TGAAC(A/G)TACTG intron-variant, reference, missense

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

Variation tolerance for XIRP2 Gene

Residual Variation Intolerance Score: 97.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 22.96; 99.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for XIRP2 Gene

Human Gene Mutation Database (HGMD)
XIRP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XIRP2 Gene

Disorders for XIRP2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for XIRP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
myopathy, myofibrillar, 5
  • myofibrillar myopathy 5
osteochondrosis
  • juvenile osteochondrosis of tibial tubercle
cardiomyopathy
  • cardiomyopathies
- elite association - COSMIC cancer census association via MalaCards
Search XIRP2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for XIRP2

Genetic Association Database (GAD)
XIRP2
Human Genome Epidemiology (HuGE) Navigator
XIRP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
XIRP2
genes like me logo Genes that share disorders with XIRP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  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. A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis. (PMID: 25865352) Schaarschmidt H. … Weidinger S. (J. Allergy Clin. Immunol. 2015) 3
  5. A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients. (PMID: 23115302) Kley R.A. … Marcus K. (Mol. Cell Proteomics 2013) 3

Products for XIRP2 Gene

Sources for XIRP2 Gene

Content