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Aliases for AAR2 Gene

Aliases for AAR2 Gene

  • AAR2 Splicing Factor Homolog 2 3 4 5
  • C20orf4 3 4
  • AAR2 Splicing Factor Homolog (S. Cerevisiae) 2
  • Chromosome 20 Open Reading Frame 4 2
  • Protein AAR2 Homolog 3
  • 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 Homolog) is a Protein Coding gene.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AAR2 Gene

Genomics for AAR2 Gene

Regulatory Elements for AAR2 Gene

Enhancers for AAR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F036459 0.6 ENCODE 44.7 +230.3 230347 13.6 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 RBM12 AAR2 CPNE1 TGIF2 RBL1 RPL36P4 MYL9 TLDC2 DLGAP4-AS1 MANBAL
GH20F037093 0.2 ENCODE 34.2 +859.0 859039 2.9 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 SP3 NFYC AAR2 TGIF2 RPRD1B LINC00489 RBL1 TTI1 MROH8 MYL9 LOC100419562 MANBAL
GH20F036235 0.6 ENCODE 32.6 +0.2 213 2.0 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 CPNE1 AAR2 RBM12 MYL9 EIF6 RBL1 TGIF2 RPL36P4 LOC105372602 GC20P036252
GH20F037177 0.8 ENCODE 30.3 +942.9 942860 3.3 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF143 AAR2 MROH8 TTI1 MYL9 RBL1 MANBAL TGIF2 RPRD1B RPN2
GH20F036049 0.7 ENCODE 26.3 -185.3 -185309 2.6 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CPNE1 AAR2 RBM12 PROCR TGIF2 MYL9 RPL36P4 TRPC4AP CNBD2 DLGAP4-AS1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AAR2 on UCSC Golden Path with GeneCards custom track

Promoters for AAR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000400431 183 1601 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1

Genomic Location for AAR2 Gene

Chromosome:
20
Start:
36,236,417 bp from pter
End:
36,270,918 bp from pter
Size:
34,502 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:
    No Data Available
    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 Lys 44 and Lys 186
  • 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

Protein Domains for AAR2 Gene

InterPro:
Blocks:
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 Gene Families and Suggested Antigen Peptide Sequences for AAR2 Gene

Function for AAR2 Gene

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

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , 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
Jensen Localization Image for AAR2 Gene COMPARTMENTS Subcellular localization image for AAR2 gene
Compartment Confidence
cytosol 3
nucleus 2
mitochondrion 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for AAR2 Gene

Pathways & Interactions for AAR2 Gene

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 --
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

Transcripts for AAR2 Gene

Unigene Clusters for AAR2 Gene

AAR2 splicing factor homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with AAR2: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia AAR2 34 35
  • 90.97 (n)
cow
(Bos Taurus)
Mammalia AAR2 34 35
  • 88.77 (n)
rat
(Rattus norvegicus)
Mammalia Aar2 34
  • 87.61 (n)
mouse
(Mus musculus)
Mammalia Aar2 34 16 35
  • 87.52 (n)
oppossum
(Monodelphis domestica)
Mammalia AAR2 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AAR2 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves C20H20ORF4 34 35
  • 70.54 (n)
lizard
(Anolis carolinensis)
Reptilia AAR2 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aar2 34
  • 62.7 (n)
zebrafish
(Danio rerio)
Actinopterygii aar2 34 35
  • 62.81 (n)
Dr.18910 34
fruit fly
(Drosophila melanogaster)
Insecta CG12320 34 35
  • 50.85 (n)
worm
(Caenorhabditis elegans)
Secernentea F10B5.2 34 35
  • 48.13 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AAR2 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G66510 34
  • 43.04 (n)
rice
(Oryza sativa)
Liliopsida Os04g0132300 34
  • 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)

Paralogs for AAR2 Gene

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

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 Sequence Context AA Info Type
rs111273847 -- 36,255,924(+) GAGGC(C/T)GTACC utr-variant-3-prime
rs111495736 -- 36,236,367(+) CATCC(A/G)GCGGA nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs111591742 -- 36,240,010(+) GGGGC(G/T)TGAAG reference, missense
rs111817655 -- 36,246,908(+) TCTTC(A/G)TATAT intron-variant
rs112360321 -- 36,242,363(+) ACATC(-/TTT)TGTTG 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)

Relevant External Links for AAR2 Gene

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

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

Disorders for AAR2 Gene

Relevant External Links for AAR2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AAR2

No disorders were found for AAR2 Gene.

No data available for MalaCards , 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 Crystallogr F Struct Biol Commun 2015) 2 3 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Towards 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 Res. 2001) 3 4 64
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  5. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 3 4 64

Products for AAR2 Gene

Sources for AAR2 Gene

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