AAR2 - AAR2 splicing factor Gene

Also Known as CGI-23; C20orf4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25980

About AAR2

Cytogenetic location: 20q11.23 Genomic coordinates (GRCh38): 20:36,236,478-36,256,933 (from NCBI)

This gene has 12 transcripts (splice variants) and 196 orthologues. Ubiquitous expression in testis (RPKM 10.2), thyroid (RPKM 9.5) and 25 other tissues.

Summary

This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

AAR2 Products (2)

mRNA	Protein	Name
NM_001271874.2	NP_001258803.1	protein AAR2 homolog
NM_015511.5	NP_056326.2	protein AAR2 homolog

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	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

AAR2 Protein Structure

AAR2

0
100
200
300
384 a.a.

Protein Preferred Names	Protein Names
protein AAR2 homolog	AAR2 splicing factor homolog

AAR2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	AAR2	Q9Y312	EAPP	Homo sapiens	Q56P03	Y2H Pooling	16189514
Intra	AAR2	Q9Y312	EAPP	Homo sapiens	Q56P03	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cerebellar Malformation
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect
Retinitis Pigmentosa 57	RP57 Pde6g-Related Retinitis Pigmentosa Retinitis Pigmentosa, Type 57
Myositis Fibrosa	Interstitial Myositis
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Meningeal Melanomatosis	Leptomeningeal Melanomatosis
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

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 (4)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS00029	AARS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00026	AAR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21465	Aars2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27983	Aars2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AAR2	VGNC	VGNC:69412
Mus musculus	AAR2	MGD	MGI:1915545
Bos taurus	AAR2	VGNC	VGNC:25446
Rattus norvegicus	AAR2	RGD	RGD:1311066
Felis catus	AAR2	VGNC	VGNC:79977
Canis familiaris	AAR2	VGNC	VGNC:37414
Others	AAR2	NCBI