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AAR2 AAR2 splicing factor [ Homo sapiens (human) ]

Gene ID: 25980, updated on 7-Jun-2020

Summary

Official Symbol
AAR2provided by HGNC
Official Full Name
AAR2 splicing factorprovided by HGNC
Primary source
HGNC:HGNC:15886
See related
Ensembl:ENSG00000131043 MIM:617365
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

Genomic context

See AAR2 in Genome Data Viewer
Location:
20q11.23
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (36236136..36256941)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (34824339..34844863)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene erythrocyte membrane protein band 4.1 like 1 Neighboring gene uncharacterized LOC100130373 Neighboring gene Sharpr-MPRA regulatory region 2694 Neighboring gene uncharacterized LOC105372602 Neighboring gene DLG associated protein 4 Neighboring gene DLGAP4 antisense RNA 1 Neighboring gene myosin light chain 9

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • bA234K24.2, DKFZp564N1363

Gene Ontology Provided by GOA

Process Evidence Code Pubs
spliceosomal tri-snRNP complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
spliceosomal complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein AAR2 homolog
Names
AAR2 splicing factor homolog

NCBI Reference Sequences (RefSeq)

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_001271874.2NP_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
    Q9Y312
    Related
    ENSP00000313674.4, ENST00000320849.9
    Conserved Domains (1) summary
    pfam05282
    Location:17363
    AAR2; AAR2 protein
  2. NM_015511.4NP_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
    Q9Y312
    Related
    ENSP00000363043.3, ENST00000373932.3
    Conserved Domains (1) summary
    pfam05282
    Location:17363
    AAR2; AAR2 protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    36236136..36256941
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723770.3XP_006723833.1  protein AAR2 homolog isoform X1

    See identical proteins and their annotated locations for XP_006723833.1

    UniProtKB/Swiss-Prot
    Q9Y312
    Conserved Domains (1) summary
    pfam05282
    Location:17363
    AAR2; AAR2 protein
  2. XM_011528763.2XP_011527065.1  protein AAR2 homolog isoform X1

    See identical proteins and their annotated locations for XP_011527065.1

    UniProtKB/Swiss-Prot
    Q9Y312
    Conserved Domains (1) summary
    pfam05282
    Location:17363
    AAR2; AAR2 protein
  3. XM_011528762.2XP_011527064.1  protein AAR2 homolog isoform X1

    See identical proteins and their annotated locations for XP_011527064.1

    UniProtKB/Swiss-Prot
    Q9Y312
    Conserved Domains (1) summary
    pfam05282
    Location:17363
    AAR2; AAR2 protein
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