AAR2 - AAR2 splicing factor Gene

Homo sapiens

Also known as CGI-23; C20orf4

Gene ID: 25980 | Gene type: protein coding

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

AAR2 Protein Structure

AAR2

0
100
200
300
384 a.a.

Protein Preferred Names

Protein Names

protein AAR2 homolog

AAR2 splicing factor homolog

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00026	AAR2 Human Pre-designed siRNA Set A		/	Unkown
HY-RS00029	AARS2 Human Pre-designed siRNA Set A		/	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

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