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] See more...

Aliases for AAR2 Gene

Aliases for AAR2 Gene

  • AAR2 Splicing Factor 2 3 5
  • AAR2 Splicing Factor Homolog 2 3 4
  • Protein AAR2 Homolog 3 4
  • C20orf4 3 4
  • AAR2 Splicing Factor Homolog (S. Cerevisiae) 2
  • Chromosome 20 Open Reading Frame 4 2
  • CGI-23 3

External Ids for AAR2 Gene

Previous HGNC Symbols for AAR2 Gene

  • C20orf4

Previous GeneCards Identifiers for AAR2 Gene

  • GC20P034825

Summaries for AAR2 Gene

Entrez Gene Summary for AAR2 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]

GeneCards Summary for AAR2 Gene

AAR2 (AAR2 Splicing Factor) is a Protein Coding gene. Diseases associated with AAR2 include Cerebellar Malformation and Patent Foramen Ovale.

UniProtKB/Swiss-Prot Summary for AAR2 Gene

  • Component of the U5 snRNP complex that is required for spliceosome assembly and for pre-mRNA splicing.

Additional gene information for AAR2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AAR2 Gene

Genomics for AAR2 Gene

GeneHancer (GH) Regulatory Elements for AAR2 Gene

Promoters and enhancers for AAR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J036235 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 773.3 +0.5 506 2.6 SIN3A SP1 ZBTB40 SIX5 ZBTB6 LCORL MLX RBPJ POLR2A CTBP1 AAR2 LOC105372602 SOGA1 RBM12 RBL1 CPNE1 RBM39 MYL9 ERGIC3 RPN2
GH20J036234 Enhancer 0.5 Ensembl 750.6 -1.5 -1516 0.2 CBFA2T2 PKNOX1 FOXA2 NCOR1 KDM1A CBFA2T3 AAR2 ENSG00000278035 LOC105372602 RF00017-3567 RF00017-3564
GH20J036236 Enhancer 0.5 ENCODE 750.6 -1.3 -1283 0.2 CBFA2T2 PKNOX1 NCOR1 BCOR KDM1A CBFA2T3 AAR2 ENSG00000278035 LOC105372602 RF00017-3567 RF00017-3564
GH20J035738 Promoter/Enhancer 3.1 UCNEbase EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 74.3 -494.7 -494694 7 ZNF785 SIN3A ZNF24 ZBTB40 SP1 CTCF SREBF1 LCORL ZBTB6 FOXA1 RBM39 lnc-NFS1-1 CPNE1 RBM12 AAR2 ERGIC3 NCOA6 PHF20 TRPC4AP RPL36P4
GH20J035951 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 56.5 -282.5 -282538 3.8 ZNF785 SIN3A SP1 ZBTB40 CTCF SREBF1 SIX5 ZBTB6 FOXA1 MLX CNBD2 SCAND1 CPNE1 RBM12 AAR2 ERGIC3 RBM39 TRPC4AP EIF6 RPL36P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AAR2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for AAR2 Gene

Genomic Locations for AAR2 Gene
chr20:36,236,417-36,270,918
(GRCh38/hg38)
Size:
34,502 bases
Orientation:
Plus strand
chr20:34,824,381-34,858,840
(GRCh37/hg19)
Size:
34,460 bases
Orientation:
Plus strand

Genomic View for AAR2 Gene

Genes around AAR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AAR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AAR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AAR2 Gene

Proteins for AAR2 Gene

  • Protein details for AAR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y312-AAR2_HUMAN
    Recommended name:
    Protein AAR2 homolog
    Protein Accession:
    Q9Y312
    Secondary Accessions:
    • E1P5S7
    • Q9H4F9
    • Q9P1P3
    • Q9UFK9

    Protein attributes for AAR2 Gene

    Size:
    384 amino acids
    Molecular mass:
    43472 Da
    Quaternary structure:
    • Interacts with PRPF8 (via RNase H homology domain) (PubMed:26527271). Component of a U5 snRNP complex that contains PRPF8 (By similarity).
    SequenceCaution:
    • Sequence=AAF29578.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for AAR2 Gene

Post-translational modifications for AAR2 Gene

  • Ubiquitination at Lys12, Lys44, and Lys186
  • Modification sites at PhosphoSitePlus

Other Protein References for AAR2 Gene

No data available for DME Specific Peptides for AAR2 Gene

Domains & Families for AAR2 Gene

Gene Families for AAR2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AAR2 Gene

Blocks:
InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9Y312

UniProtKB/Swiss-Prot:

AAR2_HUMAN :
  • Belongs to the AAR2 family.
Family:
  • Belongs to the AAR2 family.
genes like me logo Genes that share domains with AAR2: view

No data available for Suggested Antigen Peptide Sequences for AAR2 Gene

Function for AAR2 Gene

Molecular function for AAR2 Gene

UniProtKB/Swiss-Prot Function:
Component of the U5 snRNP complex that is required for spliceosome assembly and for pre-mRNA splicing.

Phenotypes From GWAS Catalog for AAR2 Gene

genes like me logo Genes that share phenotypes with AAR2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AAR2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AAR2 Gene

Localization for AAR2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AAR2 gene
Compartment Confidence
nucleus 4
cytosol 3
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AAR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005681 spliceosomal complex IEA --
genes like me logo Genes that share ontologies with AAR2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for AAR2 Gene

Pathways & Interactions for AAR2 Gene

PathCards logo

SuperPathways for AAR2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AAR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000244 spliceosomal tri-snRNP complex assembly IBA 21873635
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with AAR2: view

No data available for Pathways by source and SIGNOR curated interactions for AAR2 Gene

Drugs & Compounds for AAR2 Gene

No Compound Related Data Available

Transcripts for AAR2 Gene

mRNA/cDNA for AAR2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AAR2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AAR2 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b
SP1: - - -
SP2:
SP3: - - - - -
SP4:
SP5: -

Relevant External Links for AAR2 Gene

GeneLoc Exon Structure for
AAR2
ECgene alternative splicing isoforms for
AAR2

Expression for AAR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AAR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AAR2 Gene

This gene is overexpressed in Bone (28.0) and Breast (17.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AAR2 Gene



Protein tissue co-expression partners for AAR2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AAR2 Gene:

AAR2

SOURCE GeneReport for Unigene cluster for AAR2 Gene:

Hs.11314

Evidence on tissue expression from TISSUES for AAR2 Gene

  • Nervous system(4.4)
  • Skin(4.3)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with AAR2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AAR2 Gene

Orthologs for AAR2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AAR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AAR2 33 32
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AAR2 33 32
  • 90.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AAR2 33 32
  • 88.77 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aar2 32
  • 87.61 (n)
mouse
(Mus musculus)
Mammalia Aar2 17 33 32
  • 87.52 (n)
oppossum
(Monodelphis domestica)
Mammalia AAR2 33
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AAR2 33
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves C20H20ORF4 33 32
  • 70.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AAR2 33
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aar2 32
  • 62.7 (n)
zebrafish
(Danio rerio)
Actinopterygii aar2 33 32
  • 62.81 (n)
OneToOne
Dr.18910 32
fruit fly
(Drosophila melanogaster)
Insecta CG12320 33 32
  • 50.85 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F10B5.2 33 32
  • 48.13 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AAR2 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G66510 32
  • 43.04 (n)
rice
(Oryza sativa)
Liliopsida Os04g0132300 32
  • 44.06 (n)
Species where no ortholog for AAR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AAR2 Gene

ENSEMBL:
Gene Tree for AAR2 (if available)
TreeFam:
Gene Tree for AAR2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AAR2: view image

Paralogs for AAR2 Gene

(9) SIMAP similar genes for AAR2 Gene using alignment to 2 proteins:

  • AAR2_HUMAN
  • A2A2Q9_HUMAN
genes like me logo Genes that share paralogs with AAR2: view

No data available for Paralogs for AAR2 Gene

Variants for AAR2 Gene

Sequence variations from dbSNP and Humsavar for AAR2 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs746800707 likely-pathogenic, Anteriorly placed anus, Cerebellar malformation, Global developmental delay, Hypoplasia of the corpus callosum, Macule, Microcephaly, Patent foramen ovale, Ventricular septal defect 36,240,388(+) G/A/C/T coding_sequence_variant, missense_variant
rs1000014282 -- 36,256,446(+) C/T 3_prime_UTR_variant
rs1000142299 -- 36,237,378(+) G/A/C intron_variant
rs1000231495 -- 36,253,374(+) A/G intron_variant
rs1000680916 -- 36,244,509(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AAR2 Gene

Variant ID Type Subtype PubMed ID
esv2670749 CNV deletion 23128226
esv3645732 CNV loss 21293372
nsv1066673 CNV loss 25217958
nsv833965 CNV loss 17160897

Variation tolerance for AAR2 Gene

Residual Variation Intolerance Score: 80.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.23; 24.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AAR2 Gene

Human Gene Mutation Database (HGMD)
AAR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AAR2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AAR2 Gene

Disorders for AAR2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AAR2 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
cerebellar malformation
patent foramen ovale
  • atrial septal defect within oval fossa
- elite association - COSMIC cancer census association via MalaCards
Search AAR2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AAR2

genes like me logo Genes that share disorders with AAR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AAR2 Gene

Publications for AAR2 Gene

  1. Crystallization and biochemical characterization of the human spliceosomal Aar2-Prp8(RNaseH) complex. (PMID: 26527271) Santos K … Weber G (Acta crystallographica. Section F, Structural biology communications 2015) 2 3 4 56
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 56
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 56
  5. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 3 4 56

Products for AAR2 Gene

Sources for AAR2 Gene