Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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 name Gene Name - the full gene name approved by the HGNC.	AAR2 splicing factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AAR2
Synonyms (NCBI Gene) Gene synonyms aliases	C20orf4, CGI-23
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20q11.23
Summary Summary 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]

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

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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

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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

MIM	HGNC	e!Ensembl
617365	15886	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

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Multiple Congenital Anomalies	multiple congenital anomalies/dysmorphic syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Melanoma	Associate	33046735

AAR2 (AAR2 splicing factor)