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AAR2 (AAR2 splicing factor)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
25980
Gene nameGene Name - the full gene name approved by the HGNC.
AAR2 splicing factor
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
AAR2
SynonymsGene synonyms aliases
C20orf4, CGI-23
ChromosomeChromosome number
20
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.23
SummarySummary of gene provided in NCBI Entrez Gene.
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]
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs746800707 G>A,C,T Likely-pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT042757 hsa-miR-339-5p CLASH 23622248
MIRT038050 hsa-miR-423-5p CLASH 23622248
MIRT694606 hsa-miR-4640-3p HITS-CLIP 23313552
MIRT694605 hsa-miR-6823-5p HITS-CLIP 23313552
MIRT694604 hsa-miR-7113-5p HITS-CLIP 23313552
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000244 Process Spliceosomal tri-snRNP complex assembly IBA 21873635
GO:0000244 Process Spliceosomal tri-snRNP complex assembly ISS 11720285
GO:0005681 Component Spliceosomal complex IEA
GO:0005682 Component U5 snRNP ISS 11720285
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y312
Protein name Protein AAR2 homolog (AAR2 splicing factor homolog)
Protein function Component of the U5 snRNP complex that is required for spliceosome assembly and for pre-mRNA splicing.
PDB 7PJH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05282 AAR2
17 → 364
AAR2 protein
 Family
Sequence
Sequence length 384
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Ventricular septal defect Ventricular Septal Defects rs104894073, rs387906775
Unknown
Disease name Disease term dbSNP ID References
Hypoplasia of corpus callosum Hypoplasia of corpus callosum
Patent foramen ovale Foramen Ovale, Patent

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