XIRP2 - xin actin binding repeat containing 2 Gene

Homo sapiens

Also known as CMYA3

Gene ID: 129446 | Gene type: protein coding

About XIRP2

Cytogenetic location: 2q24.3 Genomic coordinates (GRCh38): 2:166,888,480-167,259,753 (from NCBI)

This gene has 9 transcripts (splice variants), 265 orthologues and 1 paralogue. Biased expression in heart (RPKM 30.7) and prostate (RPKM 5.9).

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]

XIRP2 Products(5)

mRNA	Protein	Name
NM_001079810.4	NP_001073278.1	xin actin-binding repeat-containing protein 2 isoform 2
NM_001199143.2	NP_001186072.1	xin actin-binding repeat-containing protein 2 isoform 3
NM_001199144.2	NP_001186073.1	xin actin-binding repeat-containing protein 2 isoform 4
NM_001199145.2	NP_001186074.1	xin actin-binding repeat-containing protein 2 isoform 5
NM_152381.6	NP_689594.4	xin actin-binding repeat-containing protein 2 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables actin filament binding	IMP IMP: Inferred from mutant phenotype	15454575	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
colocalizes with focal adhesion	IMP IMP: Inferred from mutant phenotype	15454575	GOA
colocalizes with stress fiber	IMP IMP: Inferred from mutant phenotype	15454575	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

XIRP2 Protein Structure

Xin

0
600
1200
1800
2400
3000
3549 a.a.

Protein Preferred Names

Protein Names

xin actin-binding repeat-containing protein 2

beta-xin

Related Diseases

Diseases

Alias

Deafness, Autosomal Recessive 27

DFNB27	Autosomal Recessive Nonsyndromic Deafness 27
Autosomal Recessive Deafness 27

Deafness, Autosomal Dominant 16

DFNA16	Autosomal Dominant Nonsyndromic Deafness 16
Autosomal Dominant Deafness 16

Myopathy, Myofibrillar, 5

Myofibrillar Myopathy 5	MFM5
Myopathy, Myofibrillar, Filamin C-Related	Filaminopathy, Autosomal Dominant
Filaminopathy	Muscle Filaminopathy
Autosomal Dominant Filaminopathy	Mfm Filamin C-Related
Myopathy Myofibrillar Filamin C-Related	Myopathy, Myofibrillar, Type 5

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Myofibrillar Myopathy

Desmin Related Myopathy	Myotilinopathy
Myopathy, Myofibrillar	Alpha Beta Crystallinopathy
Desmin Storage Myopathy	Desminopathy
Filaminopathy	Protein Surplus Myopathy
Zaspopathy	Myofibrillar Myopathies
Myopathy, Myofibrillar, Desmin-Related	Myopathy, Desmin Storage
Mfm - [Myofibrillar Myopathy]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15877	XIRP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	XIRP2	VGNC	VGNC:48450
Felis catus	XIRP2	VGNC	VGNC:67105
Bos taurus	XIRP2	VGNC	VGNC:36986
Mus musculus	XIRP2	MGD	MGI:2685198
Rattus norvegicus	XIRP2	RGD	RGD:1302980
Macaca mulatta	XIRP2	VGNC	VGNC:78953

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