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XIRP2 Gene(Protein Coding)

Xin Actin Binding Repeat Containing 2

GCID:
GC02P166888
GIFtS:
43
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 Protein 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. Gene Ontology (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

Additional gene information for XIRP2 Gene

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

Genomics for XIRP2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for XIRP2 Gene

Promoters and enhancers for XIRP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02I167187 Promoter/Enhancer 0.9 EPDnew ENCODE dbSUPER 550.1 +298.8 298800 0.2 XIRP2 XIRP2-AS1 B3GALT1
GH02I166888 Promoter 0.6 EPDnew 550.8 0.0 -26 0.1 MAFK XIRP2 ENSG00000225182 GC02P166643
GH02I167140 Enhancer 0.7 Ensembl ENCODE 12.5 +252.7 252652 1.9 JUND POLR2A JUN RCOR1 FOS XIRP2-AS1 XIRP2 B3GALT1
GH02I167134 Enhancer 0.7 Ensembl ENCODE 12.2 +247.0 246956 2.1 JUND PKNOX1 POLR2A FOS XIRP2-AS1 XIRP2 PIR51196
GH02I167331 Enhancer 0.8 Ensembl ENCODE 9.1 +443.5 443458 1.6 CTCF NRF1 BACH1 SIN3A RAD21 ETS1 SP1 POU5F1 CTBP2 B3GALT1 XIRP2 GC02M167353 ENSG00000228222
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around XIRP2 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for XIRP2 Gene

Genomic Locations for XIRP2 Gene
chr2:166,888,487-167,259,753
(GRCh38/hg38)
Size:
371,267 bases
Orientation:
Plus strand
chr2:167,744,997-168,116,263
(GRCh37/hg19)

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

Protein Expression for XIRP2 Gene

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

Post-translational modifications for XIRP2 Gene

No Post-translational modifications

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:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

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.
Domain:
  • Xin repeats bind F-actin.
Family:
  • Belongs to the Xin family.
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

Molecular function for XIRP2 Gene

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

Phenotypes From GWAS Catalog for XIRP2 Gene

Gene Ontology (GO) - Molecular Function for XIRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IMP 15454575
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

Animal Models for XIRP2 Gene

MGI Knock Outs for XIRP2:

Animal Model Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for XIRP2 gene
Compartment Confidence
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for XIRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 colocalizes_with stress fiber IMP 15454575
GO:0005925 colocalizes_with focal adhesion IMP 15454575
GO:0030018 Z disc IEA --
GO:0030054 cell junction IEA --
GO:0031941 colocalizes_with filamentous actin IMP 15454575
genes like me logo Genes that share ontologies with XIRP2: view

Pathways & Interactions for XIRP2 Gene

SuperPathways for XIRP2 Gene

PathCards logo More details on SuperPathways for XIRP2
No Data Available

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:0008150 biological_process ND --
GO:0030036 actin cytoskeleton organization IEA --
GO:0045216 cell-cell junction 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

mRNA/cDNA for XIRP2 Gene

(6) 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for XIRP2 Gene

mRNA expression in normal human tissues for XIRP2 Gene
mRNA expression by GTEx for XIRP2 GenemRNA expression by BioGPS 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



NURSA nuclear receptor signaling pathways regulating expression of XIRP2 Gene:

XIRP2

SOURCE GeneReport for Unigene cluster for XIRP2 Gene:

Hs.73680

Evidence on tissue expression from TISSUES for XIRP2 Gene

  • Muscle(4.9)
  • Heart(4.6)
genes like me logo Genes that share expression patterns with XIRP2: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
 Mammalia XIRP2 33 34
  • 99.27 (n)
cow
(Bos Taurus)
 Mammalia XIRP2 33 34
  • 86.49 (n)
dog
(Canis familiaris)
 Mammalia XIRP2 33 34
  • 81.94 (n)
mouse
(Mus musculus)
 Mammalia Xirp2 33 16 34
  • 79.95 (n)
rat
(Rattus norvegicus)
 Mammalia Xirp2 33
  • 79.87 (n)
oppossum
(Monodelphis domestica)
 Mammalia XIRP2 34
  • 61 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia XIRP2 34
  • 59 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia XIRP2 34
  • 47 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii xirp2a 34
  • 36 (a)
 OneToMany
xirp2b 34
  • 35 (a)
 OneToMany
Species where no ortholog for XIRP2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs114147582 benign, not specified 167,135,972(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1000008529 -- 167,127,251(+) G/C genic_upstream_transcript_variant, intron_variant
rs1000012283 -- 167,204,022(+) G/A intron_variant
rs1000030351 -- 166,998,021(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000031606 -- 166,913,048(+) G/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv4100n100 CNV loss 25217958
dgv7156n54 CNV loss 21841781
esv2390072 CNV deletion 18987734
esv2512957 CNV deletion 19546169
esv2663157 CNV deletion 23128226
esv2672990 CNV deletion 23128226
esv2721093 CNV deletion 23290073
esv2721094 CNV deletion 23290073
esv2760611 CNV loss 21179565
esv3560490 CNV deletion 23714750
esv3593257 CNV gain 21293372
esv3593265 CNV loss 21293372
esv3593266 CNV gain 21293372
esv3593267 CNV loss 21293372
esv3593268 CNV gain 21293372
esv3593269 CNV gain 21293372
esv3593270 CNV loss 21293372
esv3593271 CNV gain 21293372
esv3593272 CNV loss 21293372
esv3593273 CNV gain 21293372
esv3593274 CNV loss 21293372
esv3593275 CNV gain 21293372
esv3593276 CNV loss 21293372
esv3593277 CNV gain 21293372
esv3593278 CNV loss 21293372
nsv1142289 CNV tandem duplication 24896259
nsv213355 CNV deletion 16902084
nsv214042 CNV insertion 16902084
nsv3019 CNV deletion 18451855
nsv474979 CNV novel sequence insertion 20440878
nsv476329 CNV novel sequence insertion 20440878
nsv477595 CNV novel sequence insertion 20440878
nsv498943 CNV loss 21111241
nsv508177 CNV deletion 20534489
nsv583591 CNV loss 21841781

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)

Additional Variant Information for XIRP2 Gene

Human Gene Mutation Database (HGMD)
XIRP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
XIRP2

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

Disorders for XIRP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for XIRP2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
myopathy, myofibrillar, 5
  • mfm5
- elite association - COSMIC cancer census association via MalaCards
Search XIRP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for XIRP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Myomaxin is a novel transcriptional target of MEF2A that encodes a Xin-related alpha-actinin-interacting protein. (PMID: 17046827) Huang HT … Naya FJ (The Journal of biological chemistry 2006) 2 3 22 58
  2. Xin repeats define a novel actin-binding motif. (PMID: 15454575) Pacholsky D … van der Ven PF (Journal of cell science 2004) 2 3 4 58
  3. SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. (PMID: 16205742) Blasi F … International Molecular Genetic Study of Autism Consortium (IMGSAC) (European journal of human genetics : EJHG 2006) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Localization of the novel Xin protein to the adherens junction complex in cardiac and skeletal muscle during development. (PMID: 12203715) Sinn HW … Lin JJ (Developmental dynamics : an official publication of the American Association of Anatomists 2002) 2 3 58

Products for XIRP2 Gene

Sources for XIRP2 Gene

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