Aliases for RAD54L2 Gene

Aliases for RAD54L2 Gene

  • RAD54 Like 2 2 3 5
  • ARIP4 2 3 4
  • Androgen Receptor-Interacting Protein 4 3 4
  • AR Interacting Protein 4 2 3
  • RAD54-Like Protein 2 3 4
  • Helicase ARIP4 3 4
  • SRISNF2L 2 3
  • KIAA0809 2 4
  • RAD54 Like 2 (S. Cerevisiae) 2
  • EC 3.6.4.12 4
  • EC 3.6.1 51
  • HSPC325 3
  • RAD54L2 5

External Ids for RAD54L2 Gene

Previous GeneCards Identifiers for RAD54L2 Gene

  • GC03P051637

Summaries for RAD54L2 Gene

GeneCards Summary for RAD54L2 Gene

RAD54L2 (RAD54 Like 2) is a Protein Coding gene. Diseases associated with RAD54L2 include Amyloidosis, Finnish Type and Spinal Muscular Atrophy, Type Iv. Gene Ontology (GO) annotations related to this gene include protein kinase binding and helicase activity. An important paralog of this gene is ATRX.

UniProtKB/Swiss-Prot Summary for RAD54L2 Gene

  • DNA helicase that modulates androgen receptor (AR)-dependent transactivation in a promoter-dependent manner. Not able to remodel mononucleosomes in vitro (By similarity).

Additional gene information for RAD54L2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAD54L2 Gene

Genomics for RAD54L2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAD54L2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAD54L2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAD54L2

Top Transcription factor binding sites by QIAGEN in the RAD54L2 gene promoter:
  • aMEF-2
  • AP-1
  • c-Rel
  • COMP1
  • FOXC1
  • HFH-1
  • MEF-2A
  • NF-E2
  • NF-E2 p45
  • p53

Genomic Locations for RAD54L2 Gene

Latest Assembly
chr3:51,538,719-51,668,667
(GRCh38/hg38)
Size:
129,949 bases
Orientation:
Plus strand

Previous Assembly
chr3:51,572,735-51,702,676
(GRCh37/hg19 by Entrez Gene)
Size:
129,942 bases
Orientation:
Plus strand

chr3:51,575,160-51,702,683
(GRCh37/hg19 by Ensembl)
Size:
127,524 bases
Orientation:
Plus strand

Genomic View for RAD54L2 Gene

Genes around RAD54L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAD54L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAD54L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAD54L2 Gene

Proteins for RAD54L2 Gene

  • Protein details for RAD54L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4B4-ARIP4_HUMAN
    Recommended name:
    Helicase ARIP4
    Protein Accession:
    Q9Y4B4
    Secondary Accessions:
    • Q8TB57
    • Q9BV54

    Protein attributes for RAD54L2 Gene

    Size:
    1467 amino acids
    Molecular mass:
    162769 Da
    Quaternary structure:
    • Interacts with AR via its N-terminus. Interacts with DYRK1A. Binds DNA and mononucleosomes, but does not seem to form large multiprotein complexes (By similarity).
    SequenceCaution:
    • Sequence=AAH24298.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for RAD54L2 Gene

Selected DME Specific Peptides for RAD54L2 Gene

Q9Y4B4:
  • LVFSQSL
  • FDASWNP
  • MGLGKTL
  • TVLAIVP
  • FLLSTRA

Post-translational modifications for RAD54L2 Gene

Other Protein References for RAD54L2 Gene

Domains & Families for RAD54L2 Gene

Gene Families for RAD54L2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for RAD54L2 Gene

InterPro:
Blocks:
  • SNF2 related domain
ProtoNet:

Suggested Antigen Peptide Sequences for RAD54L2 Gene

GenScript: Design optimal peptide antigens:
  • RAD54-like protein 2 (ARIP4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y4B4

UniProtKB/Swiss-Prot:

ARIP4_HUMAN :
  • Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs are known to be important for the association with nuclear receptors.
  • Belongs to the SNF2/RAD54 helicase family.
Domain:
  • Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs are known to be important for the association with nuclear receptors.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with RAD54L2: view

Function for RAD54L2 Gene

Molecular function for RAD54L2 Gene

UniProtKB/Swiss-Prot Function:
DNA helicase that modulates androgen receptor (AR)-dependent transactivation in a promoter-dependent manner. Not able to remodel mononucleosomes in vitro (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Enzyme activity is enhanced by dsDNA (double-stranded DNA) and ssDNA (single-stranded DNA).

Enzyme Numbers (IUBMB) for RAD54L2 Gene

Phenotypes From GWAS Catalog for RAD54L2 Gene

Gene Ontology (GO) - Molecular Function for RAD54L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0003678 DNA helicase activity IEA --
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RAD54L2: view
genes like me logo Genes that share phenotypes with RAD54L2: view

Animal Models for research

  • Taconic Biosciences Mouse Models for RAD54L2

miRNA for RAD54L2 Gene

miRTarBase miRNAs that target RAD54L2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAD54L2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAD54L2 Gene

Localization for RAD54L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAD54L2 Gene

Nucleus. Note=Localizes in speckle-like nuclear compartments. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAD54L2 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAD54L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with RAD54L2: view

Pathways & Interactions for RAD54L2 Gene

PathCards logo

SuperPathways for RAD54L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RAD54L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032508 DNA duplex unwinding IEA --
genes like me logo Genes that share ontologies with RAD54L2: view

No data available for Pathways by source and SIGNOR curated interactions for RAD54L2 Gene

Drugs & Compounds for RAD54L2 Gene

(3) Drugs for RAD54L2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for RAD54L2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with RAD54L2: view

Transcripts for RAD54L2 Gene

mRNA/cDNA for RAD54L2 Gene

7 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAD54L2

Alternative Splicing Database (ASD) splice patterns (SP) for RAD54L2 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: -
SP2: - -
SP3:

Relevant External Links for RAD54L2 Gene

GeneLoc Exon Structure for
RAD54L2

Expression for RAD54L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAD54L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAD54L2 Gene

This gene is overexpressed in Fetal heart (41.0) and Peripheral blood mononuclear cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAD54L2 Gene



Protein tissue co-expression partners for RAD54L2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAD54L2

SOURCE GeneReport for Unigene cluster for RAD54L2 Gene:

Hs.105399

Evidence on tissue expression from TISSUES for RAD54L2 Gene

  • Nervous system(4.4)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with RAD54L2: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAD54L2 Gene

Orthologs for RAD54L2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAD54L2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAD54L2 30 31
  • 99.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAD54L2 30 31
  • 93.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAD54L2 30 31
  • 91.49 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rad54l2 30 17 31
  • 91.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rad54l2 30
  • 90.85 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RAD54L2 31
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAD54L2 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RAD54L2 30 31
  • 75.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAD54L2 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rad54l2 30
  • 66.3 (n)
Str.15166 30
African clawed frog
(Xenopus laevis)
Amphibia LOC398513 30
Zebrafish
(Danio rerio)
Actinopterygii rad54l2 30 31
  • 64.04 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG4049 30 31
  • 52.27 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea rad-26 31
  • 32 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD54 31
  • 21 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8964 30
Species where no ortholog for RAD54L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RAD54L2 Gene

ENSEMBL:
Gene Tree for RAD54L2 (if available)
TreeFam:
Gene Tree for RAD54L2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAD54L2: view image

Paralogs for RAD54L2 Gene

(1) SIMAP similar genes for RAD54L2 Gene using alignment to 3 proteins:

  • ARIP4_HUMAN
  • E7EU19_HUMAN
  • H0Y760_HUMAN

Pseudogenes.org Pseudogenes for RAD54L2 Gene

genes like me logo Genes that share paralogs with RAD54L2: view

Variants for RAD54L2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAD54L2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs111597009 Benign: not provided 51,662,493(+) C/T
NM_015106.4(RAD54L2):c.3477C>T (p.Pro1159=)
SYNONYMOUS
rs112749931 Benign: not provided 51,638,225(+) A/G
NM_015106.4(RAD54L2):c.1764A>G (p.Arg588=)
SYNONYMOUS
rs113971604 Benign: not provided 51,627,761(+) T/C
NM_015106.4(RAD54L2):c.341+7T>C
INTRON
rs144719978 Benign: not provided 51,637,240(+) C/G
NM_015106.4(RAD54L2):c.1419C>G (p.Ala473=)
SYNONYMOUS
rs150924278 Benign: not provided 51,646,299(+) T/C
NM_015106.4(RAD54L2):c.2844T>C (p.His948=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAD54L2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RAD54L2 Gene

Variant ID Type Subtype PubMed ID
esv1042021 CNV insertion 17803354
esv2423095 CNV insertion 19546169
esv3310516 CNV novel sequence insertion 20981092
esv3414786 CNV duplication 20981092
esv3596156 CNV loss 21293372
nsv479004 CNV novel sequence insertion 20440878
nsv508921 CNV insertion 20534489
nsv512801 CNV insertion 21212237
nsv999553 CNV gain 25217958

Variation tolerance for RAD54L2 Gene

Residual Variation Intolerance Score: 3.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.41; 54.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAD54L2 Gene

Human Gene Mutation Database (HGMD)
RAD54L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAD54L2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAD54L2 Gene

Disorders for RAD54L2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RAD54L2 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RAD54L2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RAD54L2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAD54L2 Gene

Publications for RAD54L2 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  2. Transcriptional Suppression by Transient Recruitment of ARIP4 to Sumoylated nuclear receptor Ad4BP/SF-1. (PMID: 19692572) Ogawa H … Morohashi K (Molecular biology of the cell 2009) 2 3
  3. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Identification of SUMO Binding Proteins Enriched after Covalent Photo-Cross-Linking. (PMID: 32786267) Brüninghoff K … Mootz HD (ACS chemical biology 2020) 3

Products for RAD54L2 Gene

Sources for RAD54L2 Gene