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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
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RECQL4 (RecQ protein-like 4


Other namesRecQ4
RecQ protein like 4
ATP-dependent DNA helicase Q4
LocusID (NCBI) 9401
Location 8q24.3
Location_base_pair Starts at 145736667 and ends at 145743210 bp from pter ( according to hg19-Feb_2009)  [Mapping]


Description Spans 6,46 kb; 21 exons; helicase domain is encoded by exons from 8 to 14
Transcription 3,62 kb mRNA


Description 1208 aa; 13,3 kDa; belongs to the RecQ subfamily of helicases and contains from aa 476 to 824 an helicase domain with a potential ATP binding site from aa 502 to 509, and the DEAH box from aa 605 to 608
Expression The RecQ4 gene is predominantly expressed in thymus and testis and at low levels in other organs such as heart, brain, placenta, pancreas, small intestine, and colon, indicating that the expression of RecQ4 gene is somewhat tissue-specific. The overall expression profile resembles that of the BLM gene. Interestingly, the expression of RecQ4 gene is partially upregulated in the G1/S phase of cell cycle.
Localisation nuclear
Function suppresses promiscuous genetic recombination and ensures accurate chromosome segregation.


Germinal See diagram of loss-of-function mutations in Rothmund-Thomson Syndrome patients

Implicated in

Entity Rothmund-Thomson Syndrome
Disease Autosomal recessive disorder associated with genomic instability, cancer predisposition and premature ageing.

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945

External links

HGNC (Hugo)RECQL4   9949
Entrez_Gene (NCBI)RECQL4  9401  RecQ protein-like 4
GeneCards (Weizmann)RECQL4
Ensembl hg19 (Hinxton)ENSG00000160957 [Gene_View]  chr8:145736667-145743210 [Contig_View]  RECQL4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000160957 [Gene_View]  chr8:145736667-145743210 [Contig_View]  RECQL4 [Vega]
ICGC DataPortalENSG00000160957
Genatlas (Paris)RECQL4
SOURCE (Princeton)RECQL4
Genomic and cartography
GoldenPath hg19 (UCSC)RECQL4  -     chr8:145736667-145743210 -  8q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RECQL4  -     8q24.3   [Description]    (hg38-Dec_2013)
EnsemblRECQL4 - 8q24.3 [CytoView hg19]  RECQL4 - 8q24.3 [CytoView hg38]
Mapping of homologs : NCBIRECQL4 [Mapview hg19]  RECQL4 [Mapview hg38]
OMIM218600   266280   268400   603780   
Gene and transcription
Genbank (Entrez)AB006532 BC011602 BC013277 BC020496 CN286057
RefSeq transcript (Entrez)NM_004260
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_016430 NT_008046 NW_004929341
Consensus coding sequences : CCDS (NCBI)RECQL4
Cluster EST : UnigeneHs.31442 [ NCBI ]
CGAP (NCI)Hs.31442
Alternative Splicing : Fast-db (Paris)GSHG0029960
Alternative Splicing GalleryENSG00000160957
Gene ExpressionRECQL4 [ NCBI-GEO ]     RECQL4 [ SEEK ]   RECQL4 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94761 (Uniprot)
NextProtO94761  [Medical]
With graphics : InterProO94761
Splice isoforms : SwissVarO94761 (Swissvar)
Catalytic activity : Enzyme3.6.4.12 [ Enzyme-Expasy ] [ IntEnz-EBI ] [ BRENDA ] [ KEGG ]   
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)DEAD/DEAH_box_helicase_dom    DNA_helicase_ATP-dep_RecQ    DNA_rep_checkpnt_protein    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    Znf_CCHC   
Related proteins : CluSTrO94761
Domain families : Pfam (Sanger)DEAD (PF00270)    Drc1-Sld2 (PF11719)    Helicase_C (PF00271)   
Domain families : Pfam (NCBI)pfam00270    pfam11719    pfam00271   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  ZnF_C2HC (SM00343)  
DMDM Disease mutations9401
Blocks (Seattle)O94761
Human Protein AtlasENSG00000160957
Peptide AtlasO94761
IPIIPI00014925   IPI01018157   
Protein Interaction databases
IntAct (EBI)O94761
Ontologies - Pathways
Ontology : AmiGObubble DNA binding  DNA strand renaturation  ATP binding  nucleus  cytoplasm  DNA replication  DNA repair  DNA recombination  multicellular organismal development  zinc ion binding  membrane  DNA duplex unwinding  annealing helicase activity  ATP-dependent 3'-5' DNA helicase activity  
Ontology : EGO-EBIbubble DNA binding  DNA strand renaturation  ATP binding  nucleus  cytoplasm  DNA replication  DNA repair  DNA recombination  multicellular organismal development  zinc ion binding  membrane  DNA duplex unwinding  annealing helicase activity  ATP-dependent 3'-5' DNA helicase activity  
Protein Interaction DatabaseRECQL4
DoCM (Curated mutations)RECQL4
Wikipedia pathwaysRECQL4
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerRECQL4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RECQL4
Exome Variant ServerRECQL4
Genetic variants : HAPMAPRECQL4
Genomic Variants (DGV)RECQL4 [DGVbeta]
ICGC Data PortalENSG00000160957 
Cancer Gene: CensusRECQL4 
Somatic Mutations in Cancer : COSMICRECQL4 
CONAN: Copy Number AnalysisRECQL4 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)8:145736667-145743210
Mutations and Diseases : HGMDRECQL4
OMIM218600    266280    268400    603780   
NextProtO94761 [Medical]
Disease Genetic AssociationRECQL4
Huge Navigator RECQL4 [HugePedia]  RECQL4 [HugeCancerGEM]
snp3D : Map Gene to Disease9401
DGIdb (Drug Gene Interaction db)RECQL4
General knowledge
Homologs : HomoloGeneRECQL4
Homology/Alignments : Family Browser (UCSC)RECQL4
Phylogenetic Trees/Animal Genes : TreeFamRECQL4
Chemical/Protein Interactions : CTD9401
Chemical/Pharm GKB GenePA34316
Clinical trialRECQL4
Cancer Resource (Charite)ENSG00000160957
Other databases
PubMed78 Pubmed reference(s) in Entrez


Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes.
Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y, Shimamoto A
Genomics. 1998 ; 54 (3) : 443-452.
PMID 9878247
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.
Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y
Nature genetics. 1999 ; 22 (1) : 82-84.
PMID 10319867
Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.
Kitao S, Lindor NM, Shiratori M, Furuichi Y, Shimamoto A
Genomics. 1999 ; 61 (3) : 268-276.
PMID 10552928
RecQ family helicases: roles in cancer and aging.
Karow JK, Wu L, Hickson ID
Current opinion in genetics & development. 2000 ; 10 (1) : 32-38.
PMID 10679384
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S
American journal of medical genetics. 2000 ; 90 (3) : 223-228.
PMID 10678659
DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders.
Mohaghegh P, Hickson ID
Human molecular genetics. 2001 ; 10 (7) : 741-746.
PMID 11257107
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI


Written10-2001Alessandro Beghini


This paper should be referenced as such :
Beghini, A
RECQL4 (RecQ protein-like 4)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(1):22-24.
Free journal version : [ pdf ]   [ DOI ]

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indexed on : Sat Mar 28 12:34:32 CET 2015

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