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XIRP2 xin actin binding repeat containing 2 [ Homo sapiens (human) ]

Gene ID: 129446, updated on 7-Apr-2024

Summary

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Official Symbol
XIRP2provided by HGNC
Official Full Name
xin actin binding repeat containing 2provided by HGNC
Primary source
HGNC:HGNC:14303
See related
Ensembl:ENSG00000163092 MIM:609778; AllianceGenome:HGNC:14303
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMYA3
Summary
Enables actin filament binding activity. Predicted to be involved in actin cytoskeleton organization and heart development. Predicted to act upstream of or within cardiac muscle tissue morphogenesis; cell-cell junction organization; and ventricular septum development. Colocalizes with focal adhesion and stress fiber. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in heart (RPKM 30.7) and prostate (RPKM 5.9) See more
Orthologs
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Genomic context

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Location:
2q24.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (166888480..167259753)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (167346432..167717651)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (167744990..168116263)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906087 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:167367421-167367674 Neighboring gene uncharacterized LOC107985958 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:167465572-167466152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:167467227-167467749 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:167485044-167485544 Neighboring gene NANOG hESC enhancer GRCh37_chr2:167817284-167817785 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:167844661-167845264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:167943626-167944126 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:167996802-167998001 Neighboring gene XIRP2 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:168131495-168132298 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:168148777-168149390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:168150619-168151231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:168187453-168188226 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:168188227-168188998 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:168188999-168189770 Neighboring gene Sharpr-MPRA regulatory region 15114 Neighboring gene beta-1,3-galactosyltransferase 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:168262488-168263041 Neighboring gene RNA, U7 small nuclear 148 pseudogene Neighboring gene CTAGE family member 14, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. CCDD Phenotype Associated with a Small Chromosome 2 Deletion. Abu-Amero KK, et al. Semin Ophthalmol, 2015. PMID 24475916
  2. A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis. Schaarschmidt H, et al. J Allergy Clin Immunol, 2015 Sep. PMID 25865352
  3. SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. Blasi F, et al. Eur J Hum Genet, 2006 Jan. PMID 16205742
  4. Sequencing, tissue distribution and physical mapping of the porcine homologue of cardiomyopathy associated 3 (CMYA3). Pan PW, et al. Anim Genet, 2003 Dec. PMID 14687087
  5. A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients. Kley RA, et al. Mol Cell Proteomics, 2013 Jan. PMID 23115302, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Report pathogenic XIRP1/2 rare variants in arrhythmogenic disorders such as sudden unexplained nocturnal death syndrome and Brugada syndrome.
    Title: Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population.
  2. Genetic information from this patient implies that genes involved in development and maintenance of extraocular muscles can cause congenital ocular motility disorders as well.
    Title: CCDD Phenotype Associated with a Small Chromosome 2 Deletion.
  3. A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis, XIRP2 and DMRTA1.
    Title: A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis.
  4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.
  7. Xin and XIRP2 define a novel actin-binding motif
    Title: Xin repeats define a novel actin-binding motif.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ39111, FLJ40200, DKFZp451G055, DKFZp779G1747

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables actin filament binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables alpha-actinin binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in biological_process ND
No biological Data available
more info
  
involved_in cardiac muscle tissue morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cell-cell junction organization IEA
Inferred from Electronic Annotation
more info
  
involved_in ventricular septum development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Z disc IEA
Inferred from Electronic Annotation
more info
  
colocalizes_with focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
colocalizes_with focal adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
colocalizes_with stress fiber IBA
Inferred from Biological aspect of Ancestor
more info
  
colocalizes_with stress fiber IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
xin actin-binding repeat-containing protein 2
Names
beta-xin
cardiomyopathy associated 3
cardiomyopathy-associated protein 3
myomaxin
xeplin
xin repeat protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001079810.4 → NP_001073278.1  xin actin-binding repeat-containing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001073278.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks the biggest exon in the CDS, as compared to variant 1. The resulting isoform (2) has a much shorter and distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AA665183, AC092601, AK097519, EF119720
    Consensus CDS
    CCDS42768.1
    UniProtKB/TrEMBL
    A0A5F9ZHW6
    Related
    ENSP00000386454.1, ENST00000409043.5
    Conserved Domains (1) summary
    cd09442
    Location:402 → 454
    LIM_Eplin_like; The Lim domain of Epithelial Protein Lost in Neoplasm (Eplin) like proteins

  2. NM_001199143.2 → NP_001186072.1  xin actin-binding repeat-containing protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001186072.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an additional in-frame exon and lacks the biggest exon in the CDS, as compared to variant 1. The resulting isoform (3) has an additional segment and a much shorter and distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AA665183, AC092601, AK097519, EF119722
    Consensus CDS
    CCDS56143.1
    UniProtKB/TrEMBL
    A0A5F9ZHW6
    Related
    ENSP00000386619.1, ENST00000409728.5
    Conserved Domains (1) summary
    cd09442
    Location:435 → 487
    LIM_Eplin_like; The Lim domain of Epithelial Protein Lost in Neoplasm (Eplin) like proteins

  3. NM_001199144.2 → NP_001186073.1  xin actin-binding repeat-containing protein 2 isoform 4

    See identical proteins and their annotated locations for NP_001186073.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks a few of exons from the 5' end and contains an alternate 5' exon, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (4) has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AL832011, EF119711
    Consensus CDS
    CCDS56144.1
    UniProtKB/Swiss-Prot
    A0PJ94, A4UGR9, B2BBS0, B2BBS1, B2BBS4, B3KVH0, J3KNB1, Q53R52, Q5MJ67, Q702N7, Q86T36, Q86T38, Q86T46, Q86T51, Q86T53, Q86T55, Q86T79, Q86TB6, Q8N1M9, Q8N3R5, Q8TBV6
    Related
    ENSP00000387255.1, ENST00000409273.6
    Conserved Domains (1) summary
    pfam08043
    Location:868 → 881
    Xin; Xin repeat

  4. NM_001199145.2 → NP_001186074.1  xin actin-binding repeat-containing protein 2 isoform 5

    See identical proteins and their annotated locations for NP_001186074.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks a few of exons from the 5' end and the biggest exon in the CDS, and contains an alternate 5' exon, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (5) has a shorter N-terminus, and a much shorter and distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AL832011, EF119717
    Consensus CDS
    CCDS56145.1
    UniProtKB/Swiss-Prot
    A4UGR9
    Related
    ENSP00000386981.1, ENST00000409605.1
    Conserved Domains (1) summary
    cd09442
    Location:180 → 232
    LIM_Eplin_like; The Lim domain of Epithelial Protein Lost in Neoplasm (Eplin) like proteins

  5. NM_152381.6 → NP_689594.4  xin actin-binding repeat-containing protein 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC092601, AC093684, AC108494
    Consensus CDS
    CCDS42769.1
    UniProtKB/Swiss-Prot
    A0PJ94, A4UGR9, B2BBS0, B2BBS1, B2BBS4, B3KVH0, J3KNB1, Q53R52, Q5MJ67, Q702N7, Q86T36, Q86T38, Q86T46, Q86T51, Q86T53, Q86T55, Q86T79, Q86TB6, Q8N1M9, Q8N3R5, Q8TBV6
    Related
    ENSP00000386840.2, ENST00000409195.6
    Conserved Domains (1) summary
    pfam08043
    Location:1090 → 1103
    Xin; Xin repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    166888480..167259753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003309.2 → XP_016858798.1  xin actin-binding repeat-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A0PJ94, A4UGR9, B2BBS0, B2BBS1, B2BBS4, B3KVH0, J3KNB1, Q53R52, Q5MJ67, Q702N7, Q86T36, Q86T38, Q86T46, Q86T51, Q86T53, Q86T55, Q86T79, Q86TB6, Q8N1M9, Q8N3R5, Q8TBV6
    Related
    ENST00000672277.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    167346432..167717651
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340473.1 → XP_054196448.1  xin actin-binding repeat-containing protein 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A4UGR9.2 GenPept UniProtKB/Swiss-Prot:A4UGR9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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