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AAR2 AAR2 splicing factor [ Homo sapiens (human) ]

Gene ID: 25980, updated on 3-Apr-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
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Genomic context

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Location:
20q11.23
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (36236478..36256933)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (37957177..37977632)
105.20220307 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. 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
  2. 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
  3. 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
  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 (70) 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)

Genotypes

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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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_2023_10

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

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

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

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

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

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

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

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

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