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    RAD54L2 RAD54 like 2 [ Homo sapiens (human) ]

    Gene ID: 23132, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RAD54L2provided by HGNC
    Official Full Name
    RAD54 like 2provided by HGNC
    Primary source
    HGNC:HGNC:29123
    See related
    Ensembl:ENSG00000164080 MIM:620006; AllianceGenome:HGNC:29123
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARIP4; HSPC325; SRISNF2L
    Summary
    Predicted to enable protein kinase binding activity and transcription coregulator activity. Predicted to be involved in chromatin remodeling. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Predicted to be located in nuclear speck. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 3.3), spleen (RPKM 2.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RAD54L2 in Genome Data Viewer
    Location:
    3p21.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (51538719..51668660)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (51569157..51700178)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (51572735..51702676)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 15B Neighboring gene DDB1 and CUL4 associated factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14414 Neighboring gene uncharacterized LOC105377085 Neighboring gene Sharpr-MPRA regulatory region 10823 Neighboring gene Sharpr-MPRA regulatory region 62 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19920 Neighboring gene NANOG hESC enhancer GRCh37_chr3:51578193-51578834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51581873-51582372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:51589128-51590066 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:51617110-51617895 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:51627487-51627690 Neighboring gene RNA, U6atac small nuclear 29, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51696703-51697203 Neighboring gene uncharacterized LOC124906237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:51712641-51713399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14417 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51721007-51721622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51724855-51725678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51725679-51726501 Neighboring gene testis expressed 264, ER-phagy receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51737956-51738824 Neighboring gene RNA, 5S ribosomal pseudogene 132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51750466-51751323 Neighboring gene glutamate metabotropic receptor 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung cancer in the Chinese Han population. Geng T, et al. BMC Cancer, 2022 Nov 16. PMID 36384536, Free PMC Article
    2. Androgen-receptor-interacting nuclear proteins. Jänne OA, et al. Biochem Soc Trans, 2000. PMID 10961928
    3. Biochemical characterization of androgen receptor-interacting protein 4. Domanskyi A, et al. Biochem J, 2006 Feb 1. PMID 16212558, Free PMC Article
    4. CircRAD54L2 promotes triple-negative breast cancer progression by regulating the miR-888 family/PDK1 axis. He Q, et al. Life Sci, 2023 Jan 1. PMID 36334805, Free PMC Article
    5. DYRK1A interacts with histone acetyl transferase p300 and CBP and localizes to enhancers. Li S, et al. Nucleic Acids Res, 2018 Nov 30. PMID 30137413, Free PMC Article

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircRAD54L2 promotes triple-negative breast cancer progression by regulating the miR-888 family/PDK1 axis.
      Title: CircRAD54L2 promotes triple-negative breast cancer progression by regulating the miR-888 family/PDK1 axis.
    2. Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung cancer in the Chinese Han population.
      Title: Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung cancer in the Chinese Han population.
    3. p62 is a novel binding partner for ARIP4, and that its binding regulates the cellular protein level of ARIP4 under conditions of metabolic stress.
      Title: Selective autophagic receptor p62 regulates the abundance of transcriptional coregulator ARIP4 during nutrient starvation.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. The ATPase activity of ARIP4 was stimulated in the presence of sumoylated Ad4BP/SF-1 and the Ad4BP/SF-1-binding site containing double-stranded DNA.
      Title: Transcriptional Suppression by Transient Recruitment of ARIP4 to Sumoylated nuclear receptor Ad4BP/SF-1.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21396, FLJ22400, KIAA0809

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent chromatin remodeler activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables forked DNA-dependent helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables four-way junction helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded 3'-5' DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription coregulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    helicase ARIP4
    Names
    AR interacting protein 4
    RAD54-like protein 2
    androgen receptor-interacting protein 4
    NP_001309182.1
    NP_001309185.1
    NP_001374795.1
    NP_001374796.1
    NP_001374798.1
    NP_055921.2

    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_001322253.2 → NP_001309182.1  helicase ARIP4 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC092037, AC099050, AC113933
      Consensus CDS
      CCDS33765.2
      UniProtKB/Swiss-Prot
      Q8TB57, Q9BV54, Q9Y4B4
      UniProtKB/TrEMBL
      H0Y760
      Conserved Domains (3) summary
      PHA03247
      Location:1106 → 1414
      PHA03247; large tegument protein UL36; Provisional
      COG0553
      Location:134 → 907
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
      cd18069
      Location:271 → 547
      DEXHc_ARIP4; DEXH-box helicase domain of ARIP4

    2. NM_001322256.2 → NP_001309185.1  helicase ARIP4 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC092037, AC099050, AC113933
      Consensus CDS
      CCDS33765.2
      UniProtKB/Swiss-Prot
      Q8TB57, Q9BV54, Q9Y4B4
      UniProtKB/TrEMBL
      H0Y760
      Conserved Domains (3) summary
      PHA03247
      Location:1106 → 1414
      PHA03247; large tegument protein UL36; Provisional
      COG0553
      Location:134 → 907
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
      cd18069
      Location:271 → 547
      DEXHc_ARIP4; DEXH-box helicase domain of ARIP4

    3. NM_001387866.1 → NP_001374795.1  helicase ARIP4 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC092037, AC099050, AC113933
      UniProtKB/TrEMBL
      H0Y760
      Conserved Domains (3) summary
      PHA03247
      Location:1104 → 1412
      PHA03247; large tegument protein UL36; Provisional
      COG0553
      Location:134 → 905
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
      cd18069
      Location:271 → 547
      DEXHc_ARIP4; DEXH-box helicase domain of ARIP4

    4. NM_001387867.1 → NP_001374796.1  helicase ARIP4 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC092037, AC099050, AC113933
      UniProtKB/TrEMBL
      H0Y760
      Conserved Domains (3) summary
      PHA03247
      Location:1101 → 1409
      PHA03247; large tegument protein UL36; Provisional
      COG0553
      Location:134 → 902
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
      cd18069
      Location:271 → 542
      DEXHc_ARIP4; DEXH-box helicase domain of ARIP4

    5. NM_001387869.1 → NP_001374798.1  helicase ARIP4 isoform e

      Status: VALIDATED

      Source sequence(s)
      AC092037, AC099050, AC113933
      UniProtKB/TrEMBL
      H0Y760
      Related
      ENSP00000410283.1, ENST00000432863.1
      Conserved Domains (3) summary
      PHA03247
      Location:1054 → 1362
      PHA03247; large tegument protein UL36; Provisional
      COG0553
      Location:82 → 855
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
      cd18069
      Location:219 → 495
      DEXHc_ARIP4; DEXH-box helicase domain of ARIP4

    6. NM_015106.4 → NP_055921.2  helicase ARIP4 isoform a

      See identical proteins and their annotated locations for NP_055921.2

      Status: VALIDATED

      Source sequence(s)
      AC092037, AC099050, AC113933
      Consensus CDS
      CCDS33765.2
      UniProtKB/Swiss-Prot
      Q8TB57, Q9BV54, Q9Y4B4
      UniProtKB/TrEMBL
      H0Y760
      Related
      ENSP00000507587.1, ENST00000684192.1
      Conserved Domains (3) summary
      PHA03247
      Location:1106 → 1414
      PHA03247; large tegument protein UL36; Provisional
      COG0553
      Location:134 → 907
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
      cd18069
      Location:271 → 547
      DEXHc_ARIP4; DEXH-box helicase domain of ARIP4

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      51538719..51668660
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      51569157..51700178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001322257.1: Suppressed sequence

      Description
      NM_001322257.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4B4.4 GenPept UniProtKB/Swiss-Prot:Q9Y4B4

    Gene LinkOut

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

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