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    AAR2 AAR2 splicing factor [ Homo sapiens (human) ]

    Gene ID: 25980, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AAR2provided by HGNC
    Official Full Name
    AAR2 splicing factorprovided by HGNC
    Primary source
    HGNC:HGNC:15886
    See related
    Ensembl:ENSG00000131043 MIM:617365; AllianceGenome:HGNC:15886
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CGI-23; C20orf4
    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]
    Expression
    Ubiquitous expression in testis (RPKM 10.2), thyroid (RPKM 9.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AAR2 in Genome Data Viewer
    Location:
    20q11.23
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (36236478..36256933)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (37957177..37977632)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (34824400..34844855)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene erythrocyte membrane protein band 4.1 like 1 Neighboring gene uncharacterized LOC124904892 Neighboring gene Sharpr-MPRA regulatory region 2694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17805 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:34799860-34801059 Neighboring gene uncharacterized LOC105372602 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:34858840-34860039 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34959277-34959938 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:34960601-34961262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34959939-34960600 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34961263-34961922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34961923-34962584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34964801-34965786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34966822-34967482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34968805-34969464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34969762-34970692 Neighboring gene DLG associated protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34978479-34978979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34980118-34980829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34996041-34996689 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35060233-35060734 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:35069878-35070075 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35082739-35083539 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35089423-35090213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35090214-35091004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35092411-35093337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35093338-35094263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17807 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35100944-35101844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35125835-35126334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17808 Neighboring gene DLGAP4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35170723-35171376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35171377-35172030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35172031-35172684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35172685-35173338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35175959-35176887 Neighboring gene myosin light chain 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Crystallization and biochemical characterization of the human spliceosomal Aar2-Prp8(RNaseH) complex. Santos K, et al. Acta Crystallogr F Struct Biol Commun, 2015 Nov. PMID 26527271, Free PMC Article
    2. Structural and functional investigation of the human snRNP assembly factor AAR2 in complex with the RNase H-like domain of PRPF8. Preussner M, et al. Acta Crystallogr D Struct Biol, 2022 Nov 1. PMID 36322420, Free PMC Article
    3. Arabidopsis AAR2, a conserved splicing factor in eukaryotes, acts in microRNA biogenesis. Fan L, et al. Proc Natl Acad Sci U S A, 2022 Oct 11. PMID 36191209, Free PMC Article
    4. TSSC4 is a component of U5 snRNP that promotes tri-snRNP formation. Klimešová K, et al. Nat Commun, 2021 Jun 15. PMID 34131137, Free PMC Article
    5. The yeast U5 snRNP coisolated with the U1 snRNP has an unexpected protein composition and includes the splicing factor Aar2p. Gottschalk A, et al. RNA, 2001 Nov. PMID 11720285, Free PMC Article

    See all (79) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural and functional investigation of the human snRNP assembly factor AAR2 in complex with the RNase H-like domain of PRPF8.
      Title: Structural and functional investigation of the human snRNP assembly factor AAR2 in complex with the RNase H-like domain of PRPF8.
    2. Arabidopsis AAR2, a conserved splicing factor in eukaryotes, acts in microRNA biogenesis.
      Title: Arabidopsis AAR2, a conserved splicing factor in eukaryotes, acts in microRNA biogenesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • bA234K24.2, DKFZp564N1363

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in spliceosomal tri-snRNP complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spliceosomal tri-snRNP complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of U5 snRNP ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of spliceosomal complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein AAR2 homolog
    Names
    AAR2 splicing factor homolog

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001271874.2 → NP_001258803.1  protein AAR2 homolog

      See identical proteins and their annotated locations for NP_001258803.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC001751, HY019727
      Consensus CDS
      CCDS13273.1
      UniProtKB/Swiss-Prot
      E1P5S7, Q9H4F9, Q9P1P3, Q9UFK9, Q9Y312
      UniProtKB/TrEMBL
      A0A7P0TA70
      Related
      ENSP00000313674.4, ENST00000320849.9
      Conserved Domains (1) summary
      pfam05282
      Location:17 → 363
      AAR2; AAR2 protein

    2. NM_015511.5 → NP_056326.2  protein AAR2 homolog

      See identical proteins and their annotated locations for NP_056326.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AW006181, BC019311, HY019727
      Consensus CDS
      CCDS13273.1
      UniProtKB/Swiss-Prot
      E1P5S7, Q9H4F9, Q9P1P3, Q9UFK9, Q9Y312
      UniProtKB/TrEMBL
      A0A7P0TA70
      Related
      ENSP00000363043.3, ENST00000373932.3
      Conserved Domains (1) summary
      pfam05282
      Location:17 → 363
      AAR2; AAR2 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      36236478..36256933
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723770.4 → XP_006723833.1  protein AAR2 homolog isoform X1

      See identical proteins and their annotated locations for XP_006723833.1

      UniProtKB/Swiss-Prot
      E1P5S7, Q9H4F9, Q9P1P3, Q9UFK9, Q9Y312
      UniProtKB/TrEMBL
      A0A7P0TA70
      Related
      ENSP00000505405.1, ENST00000680639.1
      Conserved Domains (1) summary
      pfam05282
      Location:17 → 363
      AAR2; AAR2 protein

    2. XM_011528763.3 → XP_011527065.1  protein AAR2 homolog isoform X1

      See identical proteins and their annotated locations for XP_011527065.1

      UniProtKB/Swiss-Prot
      E1P5S7, Q9H4F9, Q9P1P3, Q9UFK9, Q9Y312
      UniProtKB/TrEMBL
      A0A7P0TA70
      Conserved Domains (1) summary
      pfam05282
      Location:17 → 363
      AAR2; AAR2 protein

    3. XM_011528762.3 → XP_011527064.1  protein AAR2 homolog isoform X1

      See identical proteins and their annotated locations for XP_011527064.1

      UniProtKB/Swiss-Prot
      E1P5S7, Q9H4F9, Q9P1P3, Q9UFK9, Q9Y312
      UniProtKB/TrEMBL
      A0A7P0TA70
      Related
      ENSP00000505295.1, ENST00000680247.1
      Conserved Domains (1) summary
      pfam05282
      Location:17 → 363
      AAR2; AAR2 protein

    4. XM_047440082.1 → XP_047296038.1  protein AAR2 homolog isoform X1

      UniProtKB/Swiss-Prot
      E1P5S7, Q9H4F9, Q9P1P3, Q9UFK9, Q9Y312
      UniProtKB/TrEMBL
      A0A7P0TA70

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      37957177..37977632
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323317.1 → XP_054179292.1  protein AAR2 homolog isoform X1

      UniProtKB/Swiss-Prot
      E1P5S7, Q9H4F9, Q9P1P3, Q9UFK9, Q9Y312
      UniProtKB/TrEMBL
      A0A7P0TA70

    2. XM_054323318.1 → XP_054179293.1  protein AAR2 homolog isoform X1

      UniProtKB/Swiss-Prot
      E1P5S7, Q9H4F9, Q9P1P3, Q9UFK9, Q9Y312
      UniProtKB/TrEMBL
      A0A7P0TA70

    3. XM_054323316.1 → XP_054179291.1  protein AAR2 homolog isoform X1

      UniProtKB/Swiss-Prot
      E1P5S7, Q9H4F9, Q9P1P3, Q9UFK9, Q9Y312
      UniProtKB/TrEMBL
      A0A7P0TA70

    4. XM_054323319.1 → XP_054179294.1  protein AAR2 homolog isoform X1

      UniProtKB/Swiss-Prot
      E1P5S7, Q9H4F9, Q9P1P3, Q9UFK9, Q9Y312
      UniProtKB/TrEMBL
      A0A7P0TA70
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y312.2 GenPept UniProtKB/Swiss-Prot:Q9Y312

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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