Human Gene XIRP2 (ENST00000409195.6) from GENCODE V44
  Description: Homo sapiens xin actin binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. (from RefSeq NM_152381)
Gencode Transcript: ENST00000409195.6
Gencode Gene: ENSG00000163092.22
Transcript (Including UTRs)
   Position: hg38 chr2:166,888,480-167,259,753 Size: 371,274 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr2:166,903,483-167,254,126 Size: 350,644 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:166,888,480-167,259,753)mRNA (may differ from genome)Protein (3549 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: XIRP2_HUMAN
DESCRIPTION: RecName: Full=Xin actin-binding repeat-containing protein 2; AltName: Full=Beta-xin; AltName: Full=Cardiomyopathy-associated protein 3; AltName: Full=Xeplin;
FUNCTION: Protects actin filaments from depolymerization.
SUBUNIT: Interacts with ACTN2 (By similarity). Interacts with F- actin.
SUBCELLULAR LOCATION: Cell junction. Note=Colocalizes with actin stress fibers (By similarity).
DOMAIN: Xin repeats bind F-actin.
MISCELLANEOUS: 'Xin' means 'heart' in Chinese.
SIMILARITY: Belongs to the Xin family.
SIMILARITY: Contains 28 Xin repeats.
SEQUENCE CAUTION: Sequence=AAH18673.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAY24138.1; Type=Erroneous gene model prediction; Sequence=CAD38624.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=CAD89958.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence; Sequence=CAD91141.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: XIRP2
Diseases sorted by gene-association score: myopathy, myofibrillar, 5 (12), osteochondrosis (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 131.78 RPKM in Muscle - Skeletal
Total median expression: 162.17 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.9096-0.176 Picture PostScript Text
3' UTR -435.001936-0.225 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012510 - Actin-binding_Xin_repeat

Pfam Domains:
PF08043 - Xin repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help
4F14 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on A4UGR9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0051393 alpha-actinin binding

Biological Process:
GO:0003281 ventricular septum development
GO:0007507 heart development
GO:0008150 biological_process
GO:0030036 actin cytoskeleton organization
GO:0045216 cell-cell junction organization
GO:0055008 cardiac muscle tissue morphogenesis

Cellular Component:
GO:0030018 Z disc
GO:0030054 cell junction
GO:0001725 stress fiber
GO:0005925 focal adhesion
GO:0031941 filamentous actin


-  Descriptions from all associated GenBank mRNAs
  EF119718 - Homo sapiens xeplin variant 2 (CMYA3) mRNA, complete cds, alternatively spliced.
EF119719 - Homo sapiens xeplin variant 2 (CMYA3) mRNA, complete cds, alternatively spliced.
EF119720 - Homo sapiens xeplin variant 2 (CMYA3) mRNA, complete cds, alternatively spliced.
EF119721 - Homo sapiens xeplin variant 3 (CMYA3) mRNA, complete cds, alternatively spliced.
EF119722 - Homo sapiens xeplin variant 3 (CMYA3) mRNA, complete cds, alternatively spliced.
AK097519 - Homo sapiens cDNA FLJ40200 fis, clone TESTI2020071.
AY820969 - Homo sapiens CMYA3 mRNA, complete cds.
AK122889 - Homo sapiens cDNA FLJ16539 fis, clone OCBBF2034529, moderately similar to Mus musculus xin actin-binding repeat containing 2 (Xirp2), transcript variant 1, mRNA.
EF119711 - Homo sapiens beta-xin (CMYA3) mRNA, complete cds, alternatively spliced.
EF119717 - Homo sapiens xeplin variant 1 (CMYA3) mRNA, complete cds, alternatively spliced.
AL832331 - Homo sapiens mRNA; cDNA DKFZp451G055 (from clone DKFZp451G055).
BC022887 - Homo sapiens cardiomyopathy associated 3, mRNA (cDNA clone IMAGE:4328322), partial cds.
BX647848 - Homo sapiens mRNA; cDNA DKFZp451N161 (from clone DKFZp451N161).
BC022446 - Homo sapiens cardiomyopathy associated 3, mRNA (cDNA clone IMAGE:4288577), partial cds.
AL833291 - Homo sapiens mRNA; cDNA DKFZp451E159 (from clone DKFZp451E159).
BX647448 - Homo sapiens mRNA; cDNA DKFZp451F057 (from clone DKFZp451F057).
BC016370 - Homo sapiens cardiomyopathy associated 3, mRNA (cDNA clone IMAGE:4289504), partial cds.
BC018673 - Homo sapiens xin actin-binding repeat containing 2, mRNA (cDNA clone IMAGE:4290750), partial cds.
AJ626901 - Homo sapiens partial mRNA for XIRP2 (CMYA3 gene).
AK096430 - Homo sapiens cDNA FLJ39111 fis, clone NTONG2005265.
BX647844 - Homo sapiens mRNA; cDNA DKFZp451F141 (from clone DKFZp451F141).
AK125495 - Homo sapiens cDNA FLJ43506 fis, clone PERIC1000147.
CR627255 - Homo sapiens mRNA; cDNA DKFZp779G1747 (from clone DKFZp779G1747).
AK092683 - Homo sapiens cDNA FLJ35364 fis, clone SKMUS2000726.
AX747670 - Sequence 1195 from Patent EP1308459.
AL832452 - Homo sapiens mRNA; cDNA DKFZp451A051 (from clone DKFZp451A051); complete cds.
AL832336 - Homo sapiens mRNA; cDNA DKFZp451K165 (from clone DKFZp451K165).
AL832011 - Homo sapiens mRNA; cDNA DKFZp451D064 (from clone DKFZp451D064).
AK096907 - Homo sapiens cDNA FLJ39588 fis, clone SKMUS2008474.
BX647645 - Homo sapiens mRNA; cDNA DKFZp451E017 (from clone DKFZp451E017).
AL831970 - Homo sapiens mRNA; cDNA DKFZp451B223 (from clone DKFZp451B223).
BX647845 - Homo sapiens mRNA; cDNA DKFZp451K101 (from clone DKFZp451K101).
AL832360 - Homo sapiens mRNA; cDNA DKFZp451J136 (from clone DKFZp451J136).
AL832382 - Homo sapiens mRNA; cDNA DKFZp451N217 (from clone DKFZp451N217).
AL831985 - Homo sapiens mRNA; cDNA DKFZp451G193 (from clone DKFZp451G193).
AL832375 - Homo sapiens mRNA; cDNA DKFZp451G187 (from clone DKFZp451G187).
AK056582 - Homo sapiens cDNA FLJ32020 fis, clone NTONG1000123.
JD333605 - Sequence 314629 from Patent EP1572962.
BC070143 - Homo sapiens cardiomyopathy associated 3, mRNA (cDNA clone IMAGE:4245075).
JD049195 - Sequence 30219 from Patent EP1572962.
BC107799 - Homo sapiens cDNA clone IMAGE:4245336.
JD296015 - Sequence 277039 from Patent EP1572962.
JD477622 - Sequence 458646 from Patent EP1572962.
JD114140 - Sequence 95164 from Patent EP1572962.
BC022888 - Homo sapiens xin actin-binding repeat containing 2, mRNA (cDNA clone IMAGE:4338489).
KJ903749 - Synthetic construct Homo sapiens clone ccsbBroadEn_13143 XIRP2 gene, encodes complete protein.
JD273477 - Sequence 254501 from Patent EP1572962.
JD564253 - Sequence 545277 from Patent EP1572962.
JD312315 - Sequence 293339 from Patent EP1572962.
JD549490 - Sequence 530514 from Patent EP1572962.
JD332609 - Sequence 313633 from Patent EP1572962.
JD073848 - Sequence 54872 from Patent EP1572962.
AK123963 - Homo sapiens cDNA FLJ41969 fis, clone SKMUS2003074.
JD209259 - Sequence 190283 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0PJ94, A4UGR9, B2BBS0, B2BBS1, B2BBS4, B3KVH0, CMYA3, ENST00000409195.1, ENST00000409195.2, ENST00000409195.3, ENST00000409195.4, ENST00000409195.5, NM_152381, Q53R52, Q5MJ67, Q702N7, Q86T36, Q86T38, Q86T46, Q86T51, Q86T53, Q86T55, Q86T79, Q86TB6, Q8N1M9, Q8N3R5, Q8TBV6, uc002udx.1, uc002udx.2, uc002udx.3, uc002udx.4, uc002udx.5, XIRP2_HUMAN
UCSC ID: ENST00000409195.6
RefSeq Accession: NM_152381
Protein: A4UGR9 (aka XIRP2_HUMAN)
CCDS: CCDS42769.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.