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RAD54L2 RAD54 like 2 [ Homo sapiens (human) ]

Gene ID: 23132, updated on 27-Nov-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, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 3.3), spleen (RPKM 2.8) and 25 other tissues See more
Orthologs
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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: 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. 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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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.

Chemical Information
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