Xirp2 xin actin-binding repeat containing 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Xirp2provided by MGI
Official Full Name: xin actin-binding repeat containing 2provided by MGI
Primary source: MGI:MGI:2685198
See related: Ensembl:ENSMUSG00000027022 AllianceGenome:MGI:2685198
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Xin2; Cmya3; Gm352; 2310003D02Rik; 2310008C07Rik; A530024P18Rik
Summary: Enables alpha-actinin binding activity. Acts upstream of or within cardiac muscle tissue morphogenesis; cell-cell junction organization; and ventricular septum development. Located in Z disc. Is expressed in heart; lung; and skeletal muscle. Orthologous to human XIRP2 (xin actin binding repeat containing 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in heart adult (RPKM 8.8) and mammary gland adult (RPKM 2.5) See more
Orthologs: human all
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Genomic context

Location:: 2 C1.3; 2 39.31 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (67276343..67356964)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (67446000..67526620)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Repair of noise-induced damage to stereocilia F-actin cores is facilitated by XIRP2 and its novel mechanosensor domain.
Title: Repair of noise-induced damage to stereocilia F-actin cores is facilitated by XIRP2 and its novel mechanosensor domain.
Intercalated disc protein Xinbeta is required for Hippo-YAP signaling in the heart.
Title: Intercalated disc protein Xinβ is required for Hippo-YAP signaling in the heart.
XIRP2 is required for maintenance of stereocilia integrity.
Title: XIRP2, an actin-binding protein essential for inner ear hair-cell stereocilia.
XIRP2 is required for long-term maintenance of hair cell stereocilia, and its dysfunction causes hearing loss.
Title: A short splice form of Xin-actin binding repeat containing 2 (XIRP2) lacking the Xin repeats is required for maintenance of stereocilia morphology and hearing function.
Data show that mXinbeta (CMYA3/XIRP2) but not mXinalpha ((CMYA1/XIRP1) was uniquely up-regulated during the redistribution of intercellular junction from the lateral membrane of cardiomyocytes to their termini.
Title: The Xin repeat-containing protein, mXinβ, initiates the maturation of the intercalated discs during postnatal heart development.
The mXinbeta-null hearts showed upregulation of active Stat3 and downregulation of the activities of Rac1, insulin-like growth factor 1 receptor, protein kinase B, and extracellular signal-regulated kinases 1 and 2.
Title: Essential roles of an intercalated disc protein, mXinbeta, in postnatal heart growth and survival.
Reveal a novel MEF2A-Xirp2 pathway that functions downstream of Ang II signaling to modulate its pathological effects in the heart.
Title: Modulation of angiotensin II-mediated cardiac remodeling by the MEF2A target gene Xirp2.
Deletion of mXin{beta} (Xirp2) leads to severe defects in postnatal cardiac development and lethality. mXin{beta} may play an essential role in N-Cadherin-mediated adhesion signaling and its cross talk signaling in the heart.
Title: Essential roles of an intercalated disc protein, mXinbeta, in postnatal heart growth and survival.
Myomaxin functions directly downstream of MEF2A at the peripheral Z-disc complex in striated muscle potentially playing a role in regulating cytoarchitectural integrity
Title: Myomaxin is a novel transcriptional target of MEF2A that encodes a Xin-related alpha-actinin-interacting protein.
upregulation due to Ang II-induced myocardial damage and not to blood pressure elevation per se
Title: A novel gene (Cmya3) induced in the heart by angiotensin II-dependent but not salt-dependent hypertension in mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:225077

NoName (e-PCR)
- UniSTS:487742

AI452089 (e-PCR)
- UniSTS:178631

D2Jcs24 (e-PCR), detects polymorphism
- UniSTS:142311

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables alpha-actinin binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell-cell junction organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventricular septum development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell junction	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
colocalizes_with focal adhesion	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with focal adhesion	ISO Inferred from Sequence Orthology more info
colocalizes_with stress fiber	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with stress fiber	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: xin actin-binding repeat-containing protein 2

Names: Xin actin-binding repeat containing 2 short splice form; beta-xin; cardiomyopathy associated 3; cardiomyopathy-associated protein 3; mXinbeta; myogenic MEF2-activated Xin-related protein; myomaxin; xeplin; xin-beta

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)

NM_001024618.2 → NP_001019789.1 xin actin-binding repeat-containing protein 2 isoform 1

See identical proteins and their annotated locations for NP_001019789.1

Status: PROVISIONAL

Source sequence(s)

DQ011666

Consensus CDS

CCDS16082.1

UniProtKB/Swiss-Prot

A1ECA5, A2AVA2, Q4U4S6, Q5S4P6, Q5S4P7, Q5S4P8, Q8BS23

UniProtKB/TrEMBL

A0A5F8MPR4

Related

ENSMUSP00000028410.4, ENSMUST00000028410.4

Conserved Domains (3) summary

cd09442
Location:3257 → 3309

LIM_Eplin_like; The Lim domain of Epithelial Protein Lost in Neoplasm (Eplin) like proteins

PTZ00423
Location:2290 → 2391

PTZ00423; glideosome-associated protein 45; Provisional

pfam08043
Location:862 → 875

Xin; Xin repeat
NM_001083919.1 → NP_001077388.1 xin actin-binding repeat-containing protein 2 isoform 2

See identical proteins and their annotated locations for NP_001077388.1

Status: PROVISIONAL

Source sequence(s)

EF119716

Consensus CDS

CCDS38133.1

UniProtKB/TrEMBL

A0A5F8MPR4

Related

ENSMUSP00000107966.2, ENSMUST00000112347.8

Conserved Domains (2) summary

PTZ00423
Location:2290 → 2391

PTZ00423; glideosome-associated protein 45; Provisional

pfam08043
Location:862 → 875

Xin; Xin repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

67276343..67356964

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011239520.2 → XP_011237822.1 xin actin-binding repeat-containing protein 2 isoform X1

UniProtKB/TrEMBL

A0A5F8MPR4

Conserved Domains (1) summary

pfam08043
Location:815 → 830

Xin; Xin repeat