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RAD54L Gene

protein-coding GIFtS: 69
GCID: GC01P046713

RAD54-Like (S. Cerevisiae)

(Previous name: RAD54 (S.cerevisiae)-like)

See RAD54L-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
RAD54-Like (S. Cerevisiae)¹ ²		RAD54 (S.Cerevisiae)-Like¹
RAD54A² ³		DNA Repair And Recombination Protein RAD54-Like²
hHR54² ³		EC 3.6.4.-³
hRAD54² ³		HRAD54⁵
RAD54 Homolog² ³		EC 3.6.1⁸
HR54² ⁵

External Ids:	HGNC: 9826¹	Entrez Gene: 8438²	Ensembl: ENSG00000085999⁷	OMIM: 603615⁵	UniProtKB: Q92698³

ORGUL members:

Export aliases for RAD54L gene to outside databases

Previous GC identifers: GC01P046407 GC01P045670 GC01P046099 GC01P046083 GC01P046425 GC01P046485 GC01P044829

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RAD54L Gene:

The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with

Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA.

This protein has been shown to play a role in homologous recombination related repair of DNA double-strand

breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to

facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple

transcript variants encoding the same protein.(provided by RefSeq, Dec 2008)

GeneCards Summary for RAD54L Gene:

RAD54L (RAD54-like (S. cerevisiae)) is a protein-coding gene. Diseases associated with RAD54L include lymphoma, non-hodgkin, somatic, and adenocarcinoma, colonic, somatic. GO annotations related to this gene include helicase activity and annealing helicase activity. An important paralog of this gene is RAD54L2.

UniProtKB/Swiss-Prot: RAD54_HUMAN, Q92698

Function: Involved in DNA repair and mitotic recombination. Functions in the recombinational DNA repair (RAD52)

pathway. Dissociates RAD51 from nucleoprotein filaments formed on dsDNA. Could be involved in the turnover of

RAD51 protein-dsDNA filaments (By similarity). May play also an essential role in telomere length maintenance and

telomere capping in mammalian cells

Gene Wiki entry for RAD54L (DNA repair and recombination protein RAD54-like) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000001.10 NT_032977.10 NC_018912.2

Regulatory elements:

Regulatory transcription factor binding sites in the RAD54L gene promoter:
STAT1 NF-1/L NF-1 STAT1beta CUTL1 STAT1alpha YY1 STAT2 STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RAD54L promoter sequence

Search Chromatin IP Primers for RAD54L

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAD54L

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32 Ensembl cytogenetic band: 1p34.1 HGNC cytogenetic band: 1p32

RAD54L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAD54L gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P046713: view genomic region (about GC identifiers)

Start:	46,713,360 bp from pter	End:	46,744,145 bp from pter
Size:	30,786 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: RAD54_HUMAN, Q92698 (See protein sequence)

Recommended Name: DNA repair and recombination protein RAD54-like

Size: 747 amino acids; 84352 Da

Subunit: Interacts (via N-terminus) with RAD51

Secondary accessions: Q5TE31 Q6IUY3

Explore the universe of human proteins at neXtProt for RAD54L: NX_Q92698

Explore proteomics data for RAD54L at MOPED

Post-translational modifications:

Ubiquitination² at Lys302

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for RAD54L (Q92698) (see all 7)

MGLGKTL

GTIEEKI

LMWTLLRQ

LRPHQREG

See RAD54L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001136020.1 NP_003570.2

ENSEMBL proteins:

ENSP00000361043 ENSP00000477172 ENSP00000476642 ENSP00000396113

RAD54L Human Recombinant Protein Products:

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	Cloud-Clone Corp. Proteins for RAD54L
	Search eBioscience for Proteins for RAD54L
	Search GeneTex for Proteins for RAD54L
	antibodies-online proteins for RAD54L (4 products)
	antibodies-online peptides for RAD54L

RAD54L Antibody Products:

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	antibodies-online antibodies for RAD54L (8 products)

RAD54L Assay Products:

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	antibodies-online kits for RAD54L (6 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
About This Section

5 InterPro protein domains:

IPR000330 SNF2_N

IPR027417 P-loop_NTPase

IPR013967 Rad54_N

IPR014001 Helicase_ATP-bd

IPR001650 Helicase_C

Graphical View of Domain Structure for InterPro Entry Q92698

ProtoNet protein and cluster: Q92698

1 Blocks protein domain: IPB000330 SNF2 related domain

UniProtKB/Swiss-Prot: RAD54_HUMAN, Q92698

Similarity: Belongs to the SNF2/RAD54 helicase family

Similarity: Contains 1 helicase ATP-binding domain

Similarity: Contains 1 helicase C-terminal domain

Find genes that share domains with RAD54L About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: RAD54_HUMAN, Q92698

Function: Involved in DNA repair and mitotic recombination. Functions in the recombinational DNA repair (RAD52)

pathway. Dissociates RAD51 from nucleoprotein filaments formed on dsDNA. Could be involved in the turnover of

RAD51 protein-dsDNA filaments (By similarity). May play also an essential role in telomere length maintenance and

telomere capping in mammalian cells

Induction: Expression increases approximately 3-fold in late G1 phase compared to other phases of the cell cycle

Genatlas biochemistry entry for RAD54L:

yeast (S cerevisiae) RAD54 homolog,93kDa,SNF2/SW12 family,highly expressed in organs of germ cells and lymphoid

development,recombinational protein associated with RAD51,involved in nucleotide excision repair of double-strand

break and in meiotic recombination,RAD52 epistasis group,localized in a region of high loss of heterozygosity in

breast cancer,potential tumor suppressor in parathyroid adenomas (see TSG1J) and in breast cancer with poor

prognosis

Enzyme Numbers (IUBMB): EC 3.6.1² EC 3.6.4.-¹

Gene Ontology (GO): Selected molecular function terms (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003676	nucleic acid binding	--	--
GO:0003677	DNA binding	IEA	--
GO:0004386	helicase activity	IEA	--
GO:0005515	protein binding	IPI	--
GO:0005524	ATP binding	IEA	--

Find genes that share ontologies with RAD54L About GenesLikeMe

Phenotypes:
5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Rad54l):

cellular

hematopoietic system

homeostasis/metabolism

immune system

mortality/aging

Find genes that share phenotypes with RAD54L About GenesLikeMe

Animal Models:
MGI mouse knock-out Rad54l^tm1Jhjh for RAD54L

genOway: Develop your customized and physiologically relevant rodent model for RAD54L

miRNA Products:		miRTarBase miRNAs that target RAD54L: hsa-mir-26b-5p (MIRT028893)

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		6 qRT-PCR Assays for microRNAs that regulate RAD54L:
		hsa-miR-3163 hsa-miR-629* hsa-miR-561 hsa-miR-3919 hsa-miR-3925-5p hsa-miR-1248
		SwitchGear 3'UTR luciferase reporter plasmid: RAD54L 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for RAD54L
		Predesigned siRNA for gene silencing in human, mouse, rat RAD54L

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for RAD54L

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for RAD54L
		Browse ESI BIO Cell Lines and PureStem Progenitors for RAD54L

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAD54L

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

RAD54_HUMAN, Q92698: Nucleus

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytosol	1

About this image

Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--

Find genes that share ontologies with RAD54L About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for RAD54L About

See pathways by source

Powered
by

SuperPath

Contained pathways About

Homologous recombination

Homologous recombination

0.40

Integrated Breast Cancer Pathway

Integrated Breast Cancer Pathway

Find genes that share SuperPaths with RAD54L About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 BioSystems Pathway for RAD54L

Integrated Breast Cancer Pathway

1 Kegg Pathway (Kegg details for RAD54L):

Homologous recombination

Pathway & Disease-focused RT² Profiler PCR Array including RAD54L:

DNA Repair in human mouse rat

Interactions:

GeneGlobe Interaction Network for RAD54L

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for RAD54L (Q92698^{1, 3} ENSP00000361043⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 181)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RAD51	Q06609³, ENSP00000267868⁴	I2D: score=4 STRING: ENSP00000267868
H3F3A	P84243³	I2D: score=2
H3F3B	P84243³	I2D: score=2
ACTR8	Q9H981³, ENSP00000336842⁴	I2D: score=1 STRING: ENSP00000336842
ASF1A	Q9Y294³, ENSP00000229595⁴	I2D: score=1 STRING: ENSP00000229595

About this table

Gene Ontology (GO): Selected biological process terms (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000724	double-strand break repair via homologous recombination	IEA	--
GO:0000733	DNA strand renaturation	IDA	--
GO:0006281	DNA repair	TAS	8805304
GO:0006302	double-strand break repair	--	--
GO:0006310	DNA recombination	TAS	8805304

Find genes that share ontologies with RAD54L About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for RAD54L (RAD54)

1 Novoseek inferred chemical compound relationship for RAD54L gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
atp	47.2	9	15466868 (1), 10209103 (1), 12205100 (1), 11884632 (1)

Find genes that share compounds with RAD54L About GenesLikeMe

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for RAD54L gene (3 alternative transcripts):

NM_001142548.1 NM_003579.3 XM_006710975.1

Unigene Cluster for RAD54L:

RAD54-like (S. cerevisiae)

Hs.642042 [show with all ESTs]

Unigene Representative Sequence: NM_003579

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000463715 ENST00000493985 ENST00000371975(uc001cpl.2) ENST00000469835

ENST00000493032 ENST00000487700 ENST00000472889 ENST00000473251 ENST00000476687

ENST00000488942 ENST00000459678 ENST00000442598(uc009vye.2)

miRNA Products:		Block miRNA regulation of human, mouse, rat RAD54L using miScript Target Protectors
		6 qRT-PCR Assays for microRNAs that regulate RAD54L:
		hsa-miR-3163 hsa-miR-629* hsa-miR-561 hsa-miR-3919 hsa-miR-3925-5p hsa-miR-1248
		SwitchGear 3'UTR luciferase reporter plasmid: RAD54L 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector (see all 2): RAD54L (NM_003579)
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		QuantiFast Probe-based Assays in human, mouse, rat RAD54L

Additional mRNA sequence:

AK292611.1 AK297204.1 BC121059.1 BC121060.1 X97795.1

Selected DOTS entries (see all 26):

DT.100880544 DT.99987751 DT.101984839 DT.100871286 DT.455773 DT.95258380 DT.95258338 DT.99954029

DT.100880548 DT.102843187 DT.121326417 DT.121326420 DT.121326506 DT.121326364 DT.121326465 DT.40213611

DT.404972 DT.91948319 DT.99982975 DT.121326382 DT.91814854 DT.91847320 DT.92452538 DT.95258333

Selected AceView cDNA sequences (see all 132):

BU160045 BQ225695 CA414068 AL040507 BM765732 BX363303 BU855314 BM720371

BX363903 BM746228 BG258318 BU552753 AV656808 BU633988 BM825772 BF115972

BU165801 BU553867 AL520104 AW079580 BM772100 BP338308 BQ441836 BM753165

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for RAD54L About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15a	·	15b	^	16
SP1:
SP2:																							-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for RAD54L

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RAD54L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ATGTTTGCCC

About this image

RAD54L expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 8) fully expand


Brain (Nervous System) fully expand to see all 5 entries
Cerebral Cortex

Neural Tube (Nervous System) fully expand to see all 2 entries
Metencephalon

Testis (Reproductive System)
Leydig Cells Testis Interstitium

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

Pancreas (Endocrine System)
Islets of Langerhans

RAD54L Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

RAD54L Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.642042

Pathway & Disease-focused RT² Profiler PCR Array including RAD54L:

DNA Repair in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for RAD54L
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAD54L

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAD54L gene from Selected species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rad54l^{1 , 5}	RAD54 like (S. cerevisiae)^{1, 5}	89.54(n)¹ 94.5(a)¹		4 (53.10 cM)⁵ 19366¹ NM_009015.3¹ NP_033041.3¹ 116094264⁵
chicken (Gallus gallus)	Aves	RAD54L¹	RAD54-like (S. cerevisiae)	76.34(n) 85.02(a)		424611 XM_422447.3 XP_422447.3
lizard (Anolis carolinensis)	Reptilia	RAD54L⁶	RAD54-like (S. cerevisiae)	84(a)	1 ↔ 1	4(112128562-112147944)
African clawed frog (Xenopus laevis)	Amphibia	BI442106.1²	--	74.7(n)		BI442106.1
zebrafish (Danio rerio)	Actinopterygii	zgc56289²	similar to RAD54-like (S. cerevisiae)	76.23(n)		394119 BC046050.1
fruit fly (Drosophila melanogaster)	Insecta	okr^{1 , 3}	dorsal appendage formation ATP dependent DNA helicase³ okra¹	54(a)³ 58.02(n)¹ 55.98(a)¹		2 23C4³ 33507¹ NM_057313.5¹ NP_476661.1¹
worm (Caenorhabditis elegans)	Secernentea	Y116A8C.13³ rad-54¹	rad-54¹	34(a)³ 56.84(n)¹ 59.43(a)¹		IV(16950225-16962960)³ 172728¹ NM_060037.4¹ NP_492438.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	RAD54(YGL163C)⁴ RAD54¹	DNA-dependent ATPase, stimulates strand exchange by more⁴ RAD54¹	54.26(n)¹ 53.13(a)¹		7(196403-193707)⁴ 852713^{1, 4} NP_011352.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	RAD54¹	RAD54	53.41(n) 49.25(a)		821455 NM_112808.3 NP_188552.3
rice (Oryza sativa)	Liliopsida	Os02g0762800¹	Os02g0762800	54.37(n) 50.2(a)		4330819 NM_001054742.2 NP_001048207.2

ENSEMBL Gene Tree for RAD54L (if available)
TreeFam Gene Tree for RAD54L (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
About This Section

Paralogs for RAD54L gene

RAD54L2² ATRX² RAD54B²

3 SIMAP similar genes for RAD54L using alignment to 4 protein entries: RAD54_HUMAN (see all proteins):

DKFZp434J1672 RAD54B HELLS

Find genes that share paralogs with RAD54L About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_019559⁴		A colon adenocarcinoma sample⁴	--	see VAR_019559	2	P H	mis⁴		0	--	--	--	--
VAR_019561⁴		A breast cancer sample⁴	--	see VAR_019561	2	G R	mis⁴		0	--	--	--	--
VAR_019562⁴		A non-Hodgkin lymphoma sample⁴	--	see VAR_019562	2	V E	mis⁴		0	--	--	--	--
rs113621340^1,2	C,F	--	46711519(+)	`GTAGAG/AACGGG`	2	--	us2k¹		1		WA	2
rs111716928^1,2	C,F	--	46711876(+)	`ATCCGC/TCCGTC`	2	--	us2k¹		1		WA	2
rs28363188^1,2	C,F	--	46713052(+)	`TCTAGC/GCCAAC`	2	--	us2k¹		1		NS	160
rs28363189^1,2	C,F	--	46713139(+)	`GCTCCT/CCGCTG`	2	--	us2k¹		1		NS	158
rs80065359^1,2	C,F	--	46718572(+)	`ACCCTA/GTTTCT`	2	--	int¹		1		EA	120
rs112638255^1,2	C,F	--	46725373(+)	`AACCTA/GGGAGG`	2	--	int¹		1		CSA	1
rs112021124^1,2	C	--	46725989(+)	`GGAGG-/AGGAGTGA`	2	--	int¹		1		CSA	2

HapMap Linkage Disequilibrium report for RAD54L (46713360 - 46744145 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for RAD54L: About this table

Variant ID	Type	Subtype	PubMed ID
nsv829748	CNV	Loss	17160897
nsv470711	CNV	Gain	18288195

Human Gene Mutation Database (HGMD): RAD54L

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

OMIM gene information: 603615
OMIM disorders: 114480  605027
10 diseases for RAD54L:
About MalaCards

lymphoma, non-hodgkin, somatic adenocarcinoma, colonic, somatic breast cancer, invasive ductal non-hodgkin lymphoma

familial chronic lymphocytic leukemia brca1 and brca2 hereditary breast and ovarian cancer ovarian cancer brca2 hereditary breast and ovarian cancer

werner syndrome bloom syndrome

1 inferred disease relationship from the University of Copenhagen DISEASES database for RAD54L:

Bloom syndrome

Find genes that share disorders with RAD54L About GenesLikeMe

5 Novoseek inferred disease relationships for RAD54L gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
bloom syndrome	72.1	2	10640146 (1)
werner syndrome	68.3	2	10640146 (1)
allelic imbalance	68.2	2	10640146 (1)
xeroderma pigmentosum	59	2	10640146 (1)
tumors	4.24	14	9192813 (2), 10640146 (2), 10326867 (2), 15056673 (1) (see all 5)

Genetic Association Database (GAD): RAD54L
Human Genome Epidemiology (HuGE) Navigator: RAD54L (18 documents)

Export disorders for RAD54L gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RAD54L gene, integrated from 10 sources (see all 52):
(articles sorted by number of sources associating them with RAD54L)

Human and mouse homologs of the Saccharomyces cerevisiae RAD54 DNA repair gene: evidence for functional conservation. (PubMed id 8805304)^{1, 2, 3} Kanaar R.... Hoeijmakers J.H.J. (Curr. Biol. 1996)
Homologous DNA pairing by human recombination factors Rad51 and Rad54. (PubMed id 12205100)^{1, 2, 9} Sigurdsson S.... Sung P. (J. Biol. Chem. 2002)
Characterization of the human homologue of RAD54: a gene located on chromosome 1p32 at a region of high loss of heterozygosity in breast tumors. (PubMed id 9192813)^{1, 2, 9} Rasio D.... Croce C.M. (Cancer Res. 1997)
The architecture of the human Rad54-DNA complex provides evidence for protein translocation along DNA. (PubMed id 11459989)^{1, 2, 9} Ristic D.... Kanaar R. (Proc. Natl. Acad. Sci. U.S.A. 2001)
Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)^{1, 4} Monsees G.M....Han J. (Breast Cancer Res. Treat. 2011)
Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk. (PubMed id 20610542)^{1, 4} Liu Y....Bondy M.L. (Carcinogenesis 2010)
Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma in a pooled analysis of three studies. (PubMed id 20813000)^{1, 4} Shen M....Zheng T. (Br. J. Haematol. 2010)
Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)^{1, 4} Guey L.T....Malats N. (Eur. Urol. 2010)
Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)^{1, 4} Briggs F.B....Barcellos L.F. (Am. J. Epidemiol. 2010)
DNA repair gene polymorphisms and risk of pancreatic cancer. (PubMed id 19147782)^{1, 4} Li D....Abbruzzese J.L. (Clin. Cancer Res. 2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 8438	HGNC: 9826	AceView: RAD54L	Ensembl:ENSG00000085999	euGenes: HUgn8438
ECgene: RAD54L	Kegg: 8438	H-InvDB: RAD54L

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for RAD54L	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for RAD54L	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/rad54l/

Intellectual Property for RAD54L gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for RAD54L gene:
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GeneCards and IP:
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RAD54L Gene

RAD54-Like (S. Cerevisiae)

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RAD54L Gene

RAD54-Like (S. Cerevisiae)

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