XIRP2 - xin actin binding repeat containing 2 Gene

Also Known as CMYA3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 129446

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 References Source
enables actin filament binding IMP
IMP: Inferred from mutant phenotype
15454575 GOA
Cellular Component GO Annotation Evidence References 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

Xin: Xin repeat (572 - 587)

Xin

Xin: Xin repeat (612 - 627)

Xin

Xin: Xin repeat (765 - 780)

Xin

Xin: Xin repeat (837 - 851)

Xin

Xin: Xin repeat (870 - 884)

Xin

Xin: Xin repeat (907 - 921)

Xin

Xin: Xin repeat (1012 - 1027)

Xin

Xin: Xin repeat (1050 - 1065)

Xin

Xin: Xin repeat (1089 - 1103)

Xin

Xin: Xin repeat (1122 - 1137)

Xin

Xin: Xin repeat (1234 - 1249)

Xin

Xin: Xin repeat (1307 - 1322)

Xin

Xin: Xin repeat (1345 - 1360)

Xin

Xin: Xin repeat (1521 - 1534)

  • 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

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 Set / 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