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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
External Ids for AAR2 Gene
- HGNC: 15886
- Entrez Gene: 25980
- Ensembl: ENSG00000131043
- OMIM: 617365
- UniProtKB: Q9Y312
Previous HGNC Symbols for AAR2 Gene
- C20orf4
Previous GeneCards Identifiers for AAR2 Gene
- GC20P034825
Summaries 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 Myositis Fibrosa and Retinitis Pigmentosa 57.
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
- HGNC(15886)
- Entrez Gene(25980)
- Ensembl(ENSG00000131043)
- OMIM(617365)
- UniProtKB(Q9Y312)
- Open Targets Platform(ENSG00000131043)
- Search for AAR2 at DataMed
- Search for AAR2 at HumanCyc
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 Pubs
Promoters and enhancers for AAR2 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AAR2
Genomic Locations for AAR2 Gene
Genomic Locations for AAR2 Gene
- chr20:36,236,136-36,270,918
- (GRCh38/hg38)
- Size:
- 34,783 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:
-
- 20q11.23 by HGNC
- 20q11.23 by Entrez Gene
- 20q11.23 by Ensembl
AAR2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for AAR2 Gene
Post-translational modifications for AAR2 Gene
Other Protein References for AAR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for AAR2
- Novus Biologicals Antibodies for AAR2
- Invitrogen Antibodies for AAR2 (AFLGC-AAR2)
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for AAR2
- Origene Custom Protein Services for AAR2
- antibodies-online: Show 5 available C20orf4 Proteins ranked by validation data
- Compare Top C20orf4 Proteins
-
Quality Products:
-
Abcam proteins for AAR2
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
Graphical View of Domain Structure for InterPro Entry
Q9Y312- Family:
-
- Belongs to the AAR2 family.
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
Phenotypes for AAR2 Gene
- GenomeRNAi human phenotypes for AAR2:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Synthetic lethal with Ras
- Increased G2M DNA content, increased 8N DNA content
- Wnt reporter downregulated
- Increased number of mitotic cells
- Abundance of large cells with protrusions and bright nuclei
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AAR2 - Select products 50% OFF >
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-
Santa Cruz Biotechnology (SCBT) CRISPR for AAR2
miRNA for AAR2 Gene
- miRTarBase miRNAs that target AAR2
-
- hsa-miR-423-5p (MIRT038050)
- hsa-miR-339-5p (MIRT042757)
- hsa-miR-374a-3p (MIRT482628)
- hsa-miR-4276 (MIRT482629)
- hsa-miR-361-5p (MIRT482630)
- hsa-miR-664a-5p (MIRT482631)
- hsa-miR-4794 (MIRT482632)
- hsa-miR-5190 (MIRT482633)
- hsa-miR-5094 (MIRT482634)
- hsa-miR-3064-5p (MIRT482635)
- hsa-miR-6504-5p (MIRT482636)
- hsa-miR-149-5p (MIRT482637)
- hsa-miR-578 (MIRT694588)
- hsa-miR-384 (MIRT694589)
- hsa-miR-3685 (MIRT694590)
- hsa-miR-6859-3p (MIRT694591)
- hsa-miR-6860 (MIRT694592)
- hsa-miR-612 (MIRT694593)
- hsa-miR-5189-5p (MIRT694594)
- hsa-miR-3187-5p (MIRT694595)
- hsa-miR-1285-3p (MIRT694596)
- hsa-miR-4330 (MIRT694597)
- hsa-miR-939-3p (MIRT694598)
- hsa-miR-6791-5p (MIRT694599)
- hsa-miR-4292 (MIRT694600)
- hsa-miR-331-3p (MIRT694601)
- hsa-miR-6837-5p (MIRT694602)
- hsa-miR-4685-5p (MIRT694603)
- hsa-miR-7113-5p (MIRT694604)
- hsa-miR-6823-5p (MIRT694605)
- hsa-miR-4640-3p (MIRT694606)
miRNA Products
Inhibitory RNA Products
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Clone Products
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AAR2
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Cell Line Products
-
Horizon Cell Lines for AAR2
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
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 3 |
| mitochondrion | 1 |
| peroxisome | 0 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005681 | spliceosomal complex | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for AAR2 Gene
Pathways & Interactions for AAR2 Gene
Interacting Proteins for AAR2 Gene
GPS-Prot Interaction Network for AAR2
| 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for AAR2 Gene
Transcripts for AAR2 Gene
mRNA/cDNA for AAR2 Gene
- 2 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000397286 1466 nts (view in UCSC)
- ENST00000320849 2417 nts (view in UCSC)
- ENST00000373932 2689 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AAR2 - Select products 50% OFF >
- * AAR2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AAR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AAR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for AAR2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AAR2
- Browse OriGene Inhibitory RNA Products For AAR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AAR2
Clone Products
- Applied Biological Materials (abm): Clones for AAR2 - Select products 50% OFF >
- * AAR2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG205989
- MG213689
- MR205989
- MR205989L3
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- MR213689L4
- RC201316
- RC201316L1
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- RC232629
- RG201316
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- RR213605
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- MR205989L3V
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- RC201316L1V
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AAR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AAR2
| 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
Expression for AAR2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
- Muscle Progenitor Cells Hyoid Arch Muscles
-
Somite (Muscoskeletal System)
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AAR2
SOURCE GeneReport for Unigene cluster for AAR2 Gene:
Hs.11314Evidence on tissue expression from TISSUES for AAR2 Gene
- Nervous system(4.5)
- Skin(4.4)
- Lung(4.2)
Primer Products
-
OriGene qPCR primer pairs for AAR2
-
OriGene qPCR primer pairs and template standards for AAR2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | AAR2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | AAR2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | AAR2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Aar2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Aar2 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | AAR2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | AAR2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | C20H20ORF4 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | AAR2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | aar2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | aar2 30 31 |
|
OneToOne | |
| Dr.18910 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG12320 30 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | F10B5.2 30 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AAR2 33 33 |
|
|
|
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G66510 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os04g0132300 30 |
|
- Species where no ortholog for AAR2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
No data available for Paralogs for AAR2 Gene
Variants for AAR2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AAR2 Gene
| SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 707835 | Likely Benign: not provided | 36,255,683(+) | G/A | MISSENSE_VARIANT | |
| rs746800707 | Likely Pathogenic: Microcephaly; Global developmental delay; Anteriorly placed anus; Ventricular septal defect; Patent foramen ovale; Hypoplasia of the corpus callosum; Cerebellar malformation; Macule | 36,240,388(+) | G/A | MISSENSE_VARIANT | |
| rs6121183 | - | p.Pro124Thr |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2670749 | CNV | deletion | 23128226 |
| esv3645732 | CNV | loss | 21293372 |
| nsv1066673 | CNV | loss | 25217958 |
| nsv833965 | CNV | loss | 17160897 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AAR2 Gene
Disorders for AAR2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myositis fibrosa |
|
|
| retinitis pigmentosa 57 |
|
|
| cerebellar malformation |
|
|
| patent foramen ovale |
|
|
| meningeal melanomatosis |
|
|
Search AAR2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for AAR2
No data available for UniProtKB/Swiss-Prot and Genatlas for AAR2 Gene
Publications for AAR2 Gene
- 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
- 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
- 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
- The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
- Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 3 4
ExternalLinks
Products for AAR2 Gene
- Custom Antibody ServicesOriGene Antibodies for AAR2
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- OriGene qPCR primer pairs for AAR2
- OriGene qPCR primer pairs and template standards for AAR2
- OriGene CRISPR knockouts for AAR2
- MG205989
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Find your target
- Browse Primary Antibodies
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- Invitrogen Antibodies for AAR2 (AFLGC-AAR2)
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- VectorBuilder Stable cell line generation for AAR2
- antibodies-online: Show 23 available C20orf4 Antibodies ranked by validation data
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- antibodies-online: Show 5 available C20orf4 Proteins ranked by validation data
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- Quality Products:
- Horizon Cell Lines for AAR2
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for AAR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AAR2
Sources for AAR2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
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