RECQL4 Gene
protein-coding GIFtS: 59
GCID: GC08M145738
|
|
RecQ protein-like 4
| |
Aliases for RECQL4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| RecQ Protein-Like 41 2 3 | | RTS3 5 | | RECQ42 3 5 | | ATP-Dependent DNA Helicase Q42 | | RecQ41 3 | | DNA Helicase, RecQ-Like, Type 42 | | DNA Helicase, RecQ-Like Type 42 3 | | EC 3.6.4.123 |
Export aliases for RECQL4 gene to outside databasesPrevious GC identifers: GC08M143300 GC08M145774 GC08M145341 GC08M145741 GC08M145707 GC08M140849 |
Summaries for RECQL4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for RECQL4: The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwinddouble-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantlyexpressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO andBaller-Gerold syndromes. (provided by RefSeq, Jan 2010) UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761Function: DNA-dependent ATPase. May modulate chromosome segregation Gene Wiki entry for RECQL4
|
Genomic Views for RECQL4 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000008.10 NC_018919.1 NT_037704.5
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the RECQL4 gene promoter: Sp1 Other transcription factors
Search SABiosciences Chromatin IP Primers for RECQL4
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RECQL4 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 8q24.3 Ensembl cytogenetic band: 8q24.3 HGNC cytogenetic band: 8q24.3RECQL4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08M145738: view genomic region
(about GC identifiers)
Start:
|
145,736,667 bp from pter |
End:
|
145,743,229 bp from pter |
Size:
|
6,563 bases |
Orientation:
|
minus strand |
|
Proteins for RECQL4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761 (See
protein sequence)Recommended Name: ATP-dependent DNA helicase Q4 Size: 1208 amino acids; 133077 Da
Subunit: Interacts with UBR1 and UBR2. Interacts with MCM10; this interaction regulates RECQL4 unwinding activity
Subcellular location: Cytoplasm. Nucleus
Sequence caution: Sequence=AAH13277.2; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for RECQL4:2KMU (3D)
 
Secondary accessions: Q3Y424 Q96DW2 Q96F55Explore the universe of human proteins at neXtProt for RECQL4: NX_O94761
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O94761 RECQL4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_004251.3 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
RECQL4 for ontologies About GeneDecksing
RECQL4 Antibody Products: Assay Products for RECQL4: |
Protein
Domains / Families for RECQL4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RECQL4 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry O94761ProtoNet protein and cluster: O94761 1 Blocks protein family: IPB002464 ATP-dependent helicase
UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761Similarity: Belongs to the helicase family. RecQ subfamilySimilarity: Contains 1 helicase ATP-binding domainSimilarity: Contains 1 helicase C-terminal domain |
Function for RECQL4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761Function: DNA-dependent ATPase. May modulate chromosome segregationCatalytic activity: ATP + H(2)O = ADP + phosphateInduction: Up-regulated in actively dividing cells Genatlas biochemistry entry for RECQL4:DNA helicase ATP dependent,with E coli RecQ,expressed in thymus and testis as the BLM gene and up-regulated at the G1/Sand G2/M stage of the cell cycle,involved in the maintenance of genomic integrity Enzyme Number (IUBMB): EC 3.6.4.121
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RECQL4 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RECQL4 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: RECQL4 (NM_004260) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RECQL4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RECQL4  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RECQL4 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
RECQL4 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for RECQL4: Animal Models: Mouse knock-outs for RECQL4: Recql4tm1Glu Recql4tm1Abe 14 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Recql4):
RECQL4 for phenotypes About GeneDecksing
|
Pathways & Interactions for RECQL4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Cell Cycle / Checkpoint Control | | | 2 | DNA Damage | |
Pathway sources See GeneCards unified pathways Show all pathways
2
Cell Signaling Technology (CST) Pathways for RECQL4
RECQL4 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RECQL4
4 Interacting proteins for RECQL4 (O947612, 3) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table
RECQL4 for ontologies About GeneDecksing
|
Drugs & Compounds for RECQL4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
RECQL4 for compounds About GeneDecksing
Browse Tocris compounds for RECQL4 2 Novoseek chemical compound relationships for RECQL4 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hydroxyurea |
45 |
5 |
18504617 (2), 18693251 (1) |
| h2o2 |
3.36 |
2 |
16949575 (1), 18616953 (1) |
Search CenterWatch for drugs/clinical trials and news about RECQL4 / RECQ4 
|
Transcripts for RECQL4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for RECQL4 gene: NM_004260.3 Unigene Cluster for RECQL4: RecQ protein-like 4 Hs.31442 [show with all ESTs]Unigene Representative Sequence: BC02049611 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000532237 ENST00000532269 ENST00000301323 ENST00000531875 ENST00000529424 ENST00000534626 ENST00000532846 ENST00000524998 ENST00000534538 ENST00000534270 ENST00000428558(uc003zdj.3)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RECQL4 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RECQL4 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: RECQL4 (NM_004260) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RECQL4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RECQL4  |
Additional cDNA sequence: AB006532.1 BC011602.2 BC013277.2 BC020496.2 10 DOTS entries: DT.409421 DT.91829401 DT.121487236 DT.92425820 DT.100755281 DT.92030793 DT.102843665 DT.121487256 DT.95308835 DT.97813869 24/88 AceView cDNA sequences (see all 88): BE869080 BC011602 BE466402 BM854499 BE513519 AI341050 BF909603 BQ215879 BU902971 BF513150 BM702983 BQ649577 BC013277 AI590776 NM_004260 AI206129 BE295951 BX390943 BG824628 BG337918 BE514063 BG337750 BE378846 BG338114 GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for RECQL4 (see all 8) About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | |
| SP1: | |   | - |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 15b | · | 15c | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | · | 20c | |
| SP1: | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for RECQL4
|
Expression for RECQL4 gene
(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 GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| RECQL4 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: CCCTGGTGGG
About this image See RECQL4 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for RECQL4
SOURCE GeneReport for Unigene cluster: Hs.31442 UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761Tissue specificity: Ubiquitously expressed, with highest levels in thymus and testis SABiosciences Custom PCR Arrays for RECQL4
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RECQL4 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RECQL4 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RECQL4 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RECQL4 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RECQL4 |
Orthologs for RECQL4 gene
(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 animals.
Orthologs for RECQL4 gene from 4/11 species (see all 11) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Recql41 , 5 |
RecQ protein-like 41, 5 |
73.33(n)1 67.77(a)1 |
  |
15 (36.28 cM)5 794561 NM_058214.31 NP_478121.21 767035535 |
African clawed frog (Xenopus laevis) |
Amphibia |
Xl.333792 |
Xenopus laevis transcribed sequence with weak similarity more |
72.09(n) |
  |
CA980961.1 |
zebrafish (Danio rerio) |
Actinopterygii |
LOC5673831 |
ATP-dependent DNA helicase Q4-like |
55.65(n) 50.17(a) |
  |
567383 XM_001920596.3 XP_001920631.3 |
fruit fly (Drosophila melanogaster) |
Insecta |
RecQ41 , 3 |
ATP dependent DNA helicase3 CG7487-PA1 |
41(a)3 52.39(n)1 45.05(a)1 |
  |
66B103 534381 NM_144350.11 NP_652607.11 |
ENSEMBL Gene Tree for RECQL4 (if available) TreeFam Gene Tree for RECQL4 (if available)  |
Paralogs for RECQL4 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for RECQL4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 8 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for RECQL4 (145736667 - 145743229 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 4 variations for RECQL4 4 CNVs: 4613 23292 53129 30306 Human Gene Mutation Database (HGMD): RECQL4
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RECQL4 |
|
Disorders
/ Diseases for RECQL4 gene
(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.)
About This Section
|
RECQL4 for disorders About GeneDecksing
OMIM gene information: 603780 OMIM disorders: 268400 266280 218600 UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761
Defects in RECQL4 are a cause of Rothmund-Thomson syndrome (RTS) [MIM:268400]. A disease characterized bydermatological features such as atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenilecataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism Defects in RECQL4 are a cause of RAPADILINO syndrome (RAPADILINOS) [MIM:266280]. A disease characterized byradial and patellar aplasia or hypoplasia Defects in RECQL4 are a cause of Baller-Gerold syndrome (BGS) [MIM:218600]; also known as craniosynostosiswith radial defects. BGS is an autosomal recessive syndrome characterized by short stature, craniosynostosis, absentor hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Somepatients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several otherdisorders, including Saethre-Chotzen syndrome. BGS is part of the clinical spectrum of Rothmund-Thomson and RAPADILINOsyndromes 20/32 diseases for RECQL4 (see all 32): About MalaCardsballer-gerold syndrome rothmund-thomson syndrome xeroderma pigmentosum, group a saethre-chotzen syndrome parietal foramina radioulnar synostosis xeroderma pigmentosum rapadilino syndrome imperforate anus poikiloderma with neutropenia bloom syndrome synostosis werner syndrome laryngeal squamous cell carcinoma short stature neutropenia craniosynostosis squamous cell carcinoma combined immunodeficiency hydrocephalus
5 diseases from the University of Copenhagen DISEASES database for RECQL4:Rothmund-Thomson syndrome Rapadilino syndrome Werner syndrome Bloom syndrome Synostosis 10/17 Novoseek disease relationships for RECQL4 gene (see all 17) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| rothmund-thomson syndrome |
98.7 |
42 |
12218919 (2), 15960976 (2), 10552928 (2), 19177149 (2) (see all 34) |
| rapadilino syndrome |
97.7 |
7 |
15964893 (2), 15317757 (2), 17250975 (1), 19291770 (1) |
| baller-gerold syndrome |
93.3 |
8 |
19299466 (1), 17250975 (1), 17364146 (1), 15964893 (1) (see all 6) |
| bloom syndrome |
90.6 |
10 |
15702347 (1), 16793396 (1), 17623900 (1), 18719387 (1) (see all 10) |
| werner syndrome |
89.8 |
11 |
15702347 (1), 16271439 (1), 16793396 (1), 16949575 (1) (see all 11) |
| small stature |
79 |
1 |
16630167 (1) |
| osteosarcoma |
63.1 |
13 |
12734318 (4), 15221963 (2), 17264332 (1), 18647888 (1) (see all 8) |
| craniosynostosis |
60.7 |
1 |
19022412 (1) |
| genetic disorder |
53.6 |
2 |
10552928 (1), 11032027 (1) |
| growth retardation |
52.5 |
1 |
15317757 (1) |
GeneTests: RECQL4 Rothmund-Thomson SyndromeBaller-Gerold Syndrome Genetic Association Database (GAD): RECQL4 Human Genome Epidemiology (HuGE) Navigator: RECQL4 (4 documents) Export disorders for RECQL4 gene to outside databases
|
Publications for RECQL4 gene (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 RECQL4 gene, integrated from 9 sources (see all 110): (articles sorted by number of sources associating them with RECQL4) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. (PubMed id 9878247)1, 2, 3, 9 Kitao S.... Shimamoto A. (1998)
- Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. (PubMed id 10552928)1, 2, 9 Kitao S.... Shimamoto A. (1999)
- RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. (PubMed id 15317757)1, 2, 9 Yin J.... Wang W. (2004)
- Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. (PubMed id 12734318)1, 4, 9 Wang L.L....Plon S.E. (2003)
- Mutation analysis of the RECQL4 gene in sporadic osteosarcomas. (PubMed id 15221963)1, 2, 9 Nishijo K.... Toguchida J. (2004)
- Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. (PubMed id 15964893)1, 2, 9 Van Maldergem L.... Verloes A. (2006)
- Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite. (PubMed id 12601557)1, 2, 9 Roversi G.... Larizza L. (2003)
- Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. (PubMed id 15960976)1, 3, 9 Sangrithi M.N....Venkitaraman A.R. (2005)
- Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. (PubMed id 12952869)1, 2, 9 Siitonen H.A.... Kestilae M. (2003)
- Differential regulation of human RecQ family helicases in cell transformation and cell cycle. (PubMed id 11032027)1, 2, 9 Kawabe T.... Sugimoto M. (2000)
|
External Searches for RECQL4 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing RECQL4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing RECQL4 gene
(According to HUGE)
About This Section
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Specialized Databases showing RECQL4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| Name | Description |
| PharmGKB entry for RECQL4 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for RECQL4 | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RECQL4 | | NIEHS-SNPs | http://egp.gs.washington.edu/data/recql4/ |
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About This Section
| Patent Information for RECQL4 gene: Search GeneIP for patents involving RECQL4
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for RECQL4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for RECQL4 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RECQL4 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RECQL4 | | OriGene Protein Over-expression Lysate for RECQL4 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for RECQL4 | | OriGene 3'-UTR Clone for RECQL4 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RECQL4 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RECQL4 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for RECQL4 | | OriGene Custom Protein Services for RECQL4 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RECQL4 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RECQL4 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RECQL4 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RECQL4 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RECQL4 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RECQL4 |
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| Antibodies & Assays for RECQL4  |
| | | Search Tocris compounds for RECQL4 |
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 | | RECQL4 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RECQL4 |
|  |  |  | | | ThermoFisher Antibodies for RECQL4 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RECQL4 |
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