Aliases for XIRP2 Gene
Aliases for XIRP2 Gene
External Ids for XIRP2 Gene
- HGNC: 14303
- Entrez Gene: 129446
- Ensembl: ENSG00000163092
- OMIM: 609778
- UniProtKB: A4UGR9
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.
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
Regulatory Elements for XIRP2 Gene
Enhancers for XIRP2 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH02F167140 | 0.8 | Ensembl ENCODE | 12.5 | +252.7 | 252652 | 1.9 | JUND JUN BHLHE40 SIN3A FOS MAFK | XIRP2-AS1 XIRP2 B3GALT1 |
| GH02F167134 | 0.7 | Ensembl ENCODE | 12.2 | +247.0 | 246956 | 2.1 | PKNOX1 JUND FOS | XIRP2-AS1 XIRP2 PIR51196 |
| GH02F167331 | 0.9 | Ensembl ENCODE | 9.1 | +443.5 | 443458 | 1.6 | ZNF263 CTCF TFE3 NRF1 TEAD4 RAD21 BCL11A POU5F1 CTBP2 KDM1A | B3GALT1 XIRP2 GC02M167353 ENSG00000228222 |
| GH02F167192 | 0.5 | Ensembl ENCODE | 12.6 | +304.5 | 304469 | 0.7 | XIRP2-AS1 XIRP2 B3GALT1 | |
| GH02F167188 | 0.5 | Ensembl | 12.6 | +300.1 | 300114 | 1.2 | CTBP1 FOS ZIC2 ZNF644 | XIRP2 XIRP2-AS1 B3GALT1 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around XIRP2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the XIRP2 gene promoter:
Regulatory Element Products
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:
-
- 2q24.3 by Ensembl
- 2q24.3 by Entrez Gene
- 2q24.3 by HGNC
XIRP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence 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
- 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};
Protein Expression for XIRP2 Gene
Post-translational modifications for XIRP2 Gene
Other Protein References for XIRP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for XIRP2
- Novus Biologicals Antibodies for XIRP2
-
Abcam antibodies for XIRP2
- Invitrogen Antibodies for XIRP2
- antibodies-online Antibodies for XIRP2: See all 5
- Search GeneTex for Antibodies for XIRP2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for XIRP2
- Origene Custom Protein Services for XIRP2
- Novus Biologicals proteins for XIRP2
- Search GeneTex for Proteins for XIRP2
Assay Products
No data available for DME Specific Peptides for XIRP2 Gene
Domains & Families for XIRP2 Gene
Gene Families for XIRP2 Gene
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
A4UGR9UniProtKB/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.
Function for XIRP2 Gene
Molecular function for XIRP2 Gene
- UniProtKB/Swiss-Prot Function:
- Protects actin filaments from depolymerization.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003779 | actin binding | IEA | -- |
| GO:0051393 | alpha-actinin binding | IEA | -- |
Phenotypes for XIRP2 Gene
- MGI mutant phenotypes for XIRP2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for XIRP2:
Animal Models for XIRP2 Gene
- MGI Knock Outs for XIRP2:
-
- Xirp2 tm1Jl
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for XIRP2
-
- Search ViGene Biosciences for XIRP2
CRISPR Products
-
OriGene CRISPR knockouts for XIRP2
- GenScript: Design CRISPR guide RNA sequences for XIRP2
miRNA for XIRP2 Gene
- miRTarBase miRNAs that target XIRP2
-
- hsa-mir-335-5p (MIRT018886)
- hsa-mir-589-3p (MIRT527198)
- hsa-mir-3146 (MIRT527199)
- hsa-mir-4796-3p (MIRT527200)
- hsa-mir-338-5p (MIRT527201)
- hsa-mir-93-5p (MIRT527202)
- hsa-mir-526b-3p (MIRT527203)
- hsa-mir-519d-3p (MIRT527204)
- hsa-mir-20b-5p (MIRT527205)
- hsa-mir-20a-5p (MIRT527206)
- hsa-mir-17-5p (MIRT527207)
- hsa-mir-106b-5p (MIRT527208)
- hsa-mir-106a-5p (MIRT527209)
- hsa-mir-548ah-5p (MIRT527210)
- hsa-mir-3609 (MIRT527211)
miRNA Products
- Search ViGene Biosciences for XIRP2
Inhibitory RNA Products
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for XIRP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for XIRP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for 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}.
| Compartment | Confidence |
|---|---|
| nucleus | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0030018 | Z disc | IEA | -- |
| GO:0030054 | cell junction | IEA | -- |
Pathways & Interactions for XIRP2 Gene
No Data Available
Interacting Proteins 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 | -- |
| GO:0045216 | cell-cell junction organization | IEA | -- |
| GO:0055008 | cardiac muscle tissue morphogenesis | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for XIRP2 Gene
Transcripts for XIRP2 Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for XIRP2
- GenScript: Design CRISPR guide RNA sequences for XIRP2
miRNA Products
- Search ViGene Biosciences for XIRP2
Inhibitory RNA Products
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for XIRP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for XIRP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for XIRP2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Adipose (Muscoskeletal System)
- Endothelium (Cardiovascular System)
-
Skeletal Muscle (Muscoskeletal System)
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).
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:
XIRP2SOURCE GeneReport for Unigene cluster for XIRP2 Gene:
Hs.73680Primer Products
-
OriGene qPCR primer pairs for XIRP2
No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for XIRP2 Gene
Orthologs for XIRP2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | XIRP2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | XIRP2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | XIRP2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Xirp2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Xirp2 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | XIRP2 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | XIRP2 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | XIRP2 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | xirp2a 35 |
|
OneToMany | |
| xirp2b 35 |
|
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)
Paralogs for XIRP2 Gene
Variants for XIRP2 Gene
| SNP ID | Clin | Chr 02 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs10036588 | -- | 167,010,387(-) | atgcc(A/G)catat | intron-variant | |
| rs1004324 | -- | 166,918,433(+) | ATTCT(C/T)GAAAA | intron-variant | |
| rs1004767 | -- | 167,141,468(-) | TCTTC(C/T)GATAT | intron-variant, upstream-variant-2KB | |
| rs1004768 | -- | 167,141,451(-) | TACTT(C/G)TTCAT | intron-variant, upstream-variant-2KB | |
| rs1004769 | -- | 167,141,307(-) | AATAC(A/T)TATTT | intron-variant, upstream-variant-2KB |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XIRP2 Gene
Disorders for XIRP2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, myofibrillar, 5 |
|
|
| osteochondrosis |
|
|
Search XIRP2 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for XIRP2
No data available for UniProtKB/Swiss-Prot and Genatlas for XIRP2 Gene
Publications for XIRP2 Gene
- 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 22 64
- 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 64
- 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 46 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- 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 64
Products for XIRP2 Gene
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- Custom Antibody ServicesOriGene Antibodies for XIRP2
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- Novus Biologicals Antibodies for XIRP2
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- VectorBuilder custom plasmid, inducible vectors for XIRP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for XIRP2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for XIRP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
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- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
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- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
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- (122) diseasecard
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- (128) Genetics Home Reference
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- (133) NCBI Bookshelf
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- (136) ViGene Biosciences
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- (140) FANTOM5
- (141) ENCODE
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- (146) Cyagen
- (147) VectorBuilder
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