AAR2 (AAR2 splicing factor)

Gene

• Entrez ID: 25980
• Gene name: AAR2 splicing factor
• Gene symbol: AAR2
• Synonyms (NCBI Gene): C20orf4, CGI-23
• Chromosome: 20
• Chromosome location: 20q11.23
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs746800707	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

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
MIRT694603	hsa-miR-4685-5p	HITS-CLIP	23313552
MIRT694602	hsa-miR-6837-5p	HITS-CLIP	23313552
MIRT694601	hsa-miR-331-3p	HITS-CLIP	23313552
MIRT694600	hsa-miR-4292	HITS-CLIP	23313552
MIRT694599	hsa-miR-6791-5p	HITS-CLIP	23313552
MIRT694598	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT694597	hsa-miR-4330	HITS-CLIP	23313552
MIRT694596	hsa-miR-1285-3p	HITS-CLIP	23313552
MIRT694595	hsa-miR-3187-5p	HITS-CLIP	23313552
MIRT694594	hsa-miR-5189-5p	HITS-CLIP	23313552
MIRT694593	hsa-miR-612	HITS-CLIP	23313552
MIRT694592	hsa-miR-6860	HITS-CLIP	23313552
MIRT694591	hsa-miR-6859-3p	HITS-CLIP	23313552
MIRT694590	hsa-miR-3685	HITS-CLIP	23313552
MIRT694589	hsa-miR-384	HITS-CLIP	23313552
MIRT694588	hsa-miR-578	HITS-CLIP	23313552
MIRT482637	hsa-miR-149-5p	PAR-CLIP	23592263
MIRT482636	hsa-miR-6504-5p	PAR-CLIP	23592263
MIRT482635	hsa-miR-3064-5p	PAR-CLIP	23592263
MIRT482634	hsa-miR-5094	PAR-CLIP	23592263
MIRT482633	hsa-miR-5190	PAR-CLIP	23592263
MIRT482632	hsa-miR-4794	PAR-CLIP	23592263
MIRT482631	hsa-miR-664a-5p	PAR-CLIP	23592263
MIRT482630	hsa-miR-361-5p	PAR-CLIP	23592263
MIRT482629	hsa-miR-4276	PAR-CLIP	23592263
MIRT482628	hsa-miR-374a-3p	PAR-CLIP	23592263
MIRT694606	hsa-miR-4640-3p	HITS-CLIP	23313552
MIRT694605	hsa-miR-6823-5p	HITS-CLIP	23313552
MIRT694604	hsa-miR-7113-5p	HITS-CLIP	23313552
MIRT694603	hsa-miR-4685-5p	HITS-CLIP	23313552
MIRT694602	hsa-miR-6837-5p	HITS-CLIP	23313552
MIRT694601	hsa-miR-331-3p	HITS-CLIP	23313552
MIRT694600	hsa-miR-4292	HITS-CLIP	23313552
MIRT694599	hsa-miR-6791-5p	HITS-CLIP	23313552
MIRT694598	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT694597	hsa-miR-4330	HITS-CLIP	23313552
MIRT694596	hsa-miR-1285-3p	HITS-CLIP	23313552
MIRT694595	hsa-miR-3187-5p	HITS-CLIP	23313552
MIRT694594	hsa-miR-5189-5p	HITS-CLIP	23313552
MIRT694593	hsa-miR-612	HITS-CLIP	23313552
MIRT694592	hsa-miR-6860	HITS-CLIP	23313552
MIRT694591	hsa-miR-6859-3p	HITS-CLIP	23313552
MIRT694590	hsa-miR-3685	HITS-CLIP	23313552
MIRT694589	hsa-miR-384	HITS-CLIP	23313552
MIRT694588	hsa-miR-578	HITS-CLIP	23313552
MIRT482637	hsa-miR-149-5p	PAR-CLIP	23592263
MIRT482636	hsa-miR-6504-5p	PAR-CLIP	23592263
MIRT482635	hsa-miR-3064-5p	PAR-CLIP	23592263
MIRT482634	hsa-miR-5094	PAR-CLIP	23592263
MIRT482633	hsa-miR-5190	PAR-CLIP	23592263
MIRT482632	hsa-miR-4794	PAR-CLIP	23592263
MIRT482631	hsa-miR-664a-5p	PAR-CLIP	23592263
MIRT482630	hsa-miR-361-5p	PAR-CLIP	23592263
MIRT482629	hsa-miR-4276	PAR-CLIP	23592263
MIRT482628	hsa-miR-374a-3p	PAR-CLIP	23592263

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IBA
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	ISS
GO:0005515	Function	Protein binding	IPI	16189514, 28514442, 33961781, 34131137
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005682	Component	U5 snRNP	ISS
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA

Other IDs

• MIM: 617365
• HGNC: 15886
• e!Ensembl: ENSG00000131043

Protein

• 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:

  MAAVQMDPELAKRLFFEGATVVILNMPKGTEFGIDYNSWEVGPKFRGVKMIPPGIHFLHY
  SSVDKANPKEVGPRMGFFLSLHQRGLTVLRWSTLREEVDLSPAPESEVEAMRANLQELDQ
  FLGPYPYATLKKWISLTNFISEATVEKLQPENRQICAFSDVLPVLSMKHTKDRVGQNLPR
  CGIECKSYQEGLARLPEMKPRAGTEIRFSELPTQMFPEGATPAEITKHSMDLSYALETVL
  NKQFPSSPQDVLGELQFAFVCFLLGNVYEAFEHWKRLLNLLCRSEAAMMKHHTLYINLIS
  ILYHQLGEIPADFFVDIVSQDNFLTSTLQVFFSSACSIAVDATLRKKAEKFQAHLTKKFR
  WDFAAEPEDCAPVVVELPEGIEMG

• Sequence length: 384