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Aliases for RECQL4 Gene

Aliases for RECQL4 Gene

  • RecQ Like Helicase 4 2 3 5
  • RecQ Helicase-Like 4 2 3
  • RecQ Protein-Like 4 3 4
  • RECQ4 3 4
  • DNA Helicase, RecQ-Like, Type 4 3
  • DNA Helicase, RecQ-Like Type 4 4
  • ATP-Dependent DNA Helicase Q4 3
  • EC 4
  • RTS 4

External Ids for RECQL4 Gene

Previous GeneCards Identifiers for RECQL4 Gene

  • GC08M143300
  • GC08M145774
  • GC08M145341
  • GC08M145741
  • GC08M145707
  • GC08M145738
  • GC08M140849
  • GC08M145739
  • GC08M145743

Summaries for RECQL4 Gene

Entrez Gene Summary for RECQL4 Gene

  • The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]

GeneCards Summary for RECQL4 Gene

RECQL4 (RecQ Like Helicase 4) is a Protein Coding gene. Diseases associated with RECQL4 include Baller-Gerold Syndrome and Rapadilino Syndrome. Among its related pathways are DNA Damage. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and annealing helicase activity. An important paralog of this gene is WRN.

UniProtKB/Swiss-Prot for RECQL4 Gene

  • DNA-dependent ATPase. May modulate chromosome segregation.

Gene Wiki entry for RECQL4 Gene

Additional gene information for RECQL4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RECQL4 Gene

Genomics for RECQL4 Gene

GeneHancer (GH) Regulatory Elements for RECQL4 Gene

Promoters and enhancers for RECQL4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I144516 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 555.4 +0.0 4 2.6 ATF1 ARID4B SIN3A BRCA1 GLIS2 ELK1 ZNF207 ZNF143 FOS ATF7 RECQL4 PIR31614 PIR40446 LRRC14 PIR59275 PPP1R16A VPS28
GH08I144500 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 6.3 +15.1 15129 4.5 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 GLIS2 PAF1 RXRA SP5 GPT GC08M144502 GC08M144501 PPP1R16A RECQL4 LOC105375803
GH08I144683 Enhancer 1.5 FANTOM5 Ensembl ENCODE 6.9 -168.1 -168088 4.5 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 POLR2B ZNF766 VPS28 CPSF1 ZNF7 PARP10 GPAA1 HSF1 COMMD5 SLC52A2 ZNF34 RECQL4
GH08I144521 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 5.9 -4.9 -4928 2.5 HDGF SIN3A YY1 POLR2B E2F8 ZNF207 ZNF143 KLF13 SP3 ZC3H11A GC08M144577 GC08M144578 GC08P144524 GC08P144525 PIR47186 PIR54906 PIR49945 PIR50252 PIR54029 PIR62186
GH08I144675 Enhancer 0.5 Ensembl ENCODE 5.4 -157.9 -157851 0.7 POLR2A PIR33489 LOC105375803 RECQL4 GC08M144667 ARHGAP39
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RECQL4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RECQL4 gene promoter:

Genomic Locations for RECQL4 Gene

Genomic Locations for RECQL4 Gene
6,562 bases
Minus strand

Genomic View for RECQL4 Gene

Genes around RECQL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RECQL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RECQL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RECQL4 Gene

Proteins for RECQL4 Gene

  • Protein details for RECQL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ATP-dependent DNA helicase Q4
    Protein Accession:
    Secondary Accessions:
    • Q3Y424
    • Q96DW2
    • Q96F55

    Protein attributes for RECQL4 Gene

    1208 amino acids
    Molecular mass:
    133077 Da
    Quaternary structure:
    • Interacts with UBR1 and UBR2. Interacts with MCM10; this interaction regulates RECQL4 unwinding activity.
    • Sequence=AAH13277.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RECQL4 Gene

neXtProt entry for RECQL4 Gene

Post-translational modifications for RECQL4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RECQL4 Gene

Domains & Families for RECQL4 Gene

Gene Families for RECQL4 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for RECQL4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the helicase family. RecQ subfamily.
  • Belongs to the helicase family. RecQ subfamily.
genes like me logo Genes that share domains with RECQL4: view

Function for RECQL4 Gene

Molecular function for RECQL4 Gene

GENATLAS Biochemistry:
DNA helicase ATP dependent,with E coli RecQ,expressed in thymus and testis as the BLM gene and up-regulated at the G1/S and G2/M stage of the cell cycle,involved in the maintenance of genomic integrity
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
DNA-dependent ATPase. May modulate chromosome segregation.
UniProtKB/Swiss-Prot Induction:
Up-regulated in actively dividing cells.

Enzyme Numbers (IUBMB) for RECQL4 Gene

Phenotypes From GWAS Catalog for RECQL4 Gene

Gene Ontology (GO) - Molecular Function for RECQL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000405 bubble DNA binding IDA 19177149
GO:0004386 helicase activity TAS 22039056
GO:0005515 protein binding IPI 21044950
GO:0005524 ATP binding IDA,IEA 19177149
GO:0008026 ATP-dependent helicase activity IEA --
genes like me logo Genes that share ontologies with RECQL4: view
genes like me logo Genes that share phenotypes with RECQL4: view

Human Phenotype Ontology for RECQL4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RECQL4 Gene

MGI Knock Outs for RECQL4:

Animal Model Products

miRNA for RECQL4 Gene

miRTarBase miRNAs that target RECQL4

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for RECQL4 Gene

Localization for RECQL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RECQL4 Gene

Cytoplasm. Nucleus.

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RECQL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IMP 22039056
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IBA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with RECQL4: view

No data available for Subcellular locations from COMPARTMENTS for RECQL4 Gene

Pathways & Interactions for RECQL4 Gene

SuperPathways for RECQL4 Gene

SuperPathway Contained pathways
1 DNA Damage
genes like me logo Genes that share pathways with RECQL4: view

Pathways by source for RECQL4 Gene

1 Cell Signaling Technology pathway for RECQL4 Gene

Interacting Proteins for RECQL4 Gene

SIGNOR curated interactions for RECQL4 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for RECQL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance IMP 22039056
GO:0000724 double-strand break repair via homologous recombination IBA --
GO:0000733 DNA strand renaturation IDA 19177149
GO:0006260 DNA replication IMP 22039056
GO:0006281 DNA repair TAS 9878247
genes like me logo Genes that share ontologies with RECQL4: view

Drugs & Compounds for RECQL4 Gene

(4) Drugs for RECQL4 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist 0

(2) Additional Compounds for RECQL4 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with RECQL4: view

Transcripts for RECQL4 Gene

Unigene Clusters for RECQL4 Gene

RecQ protein-like 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RECQL4 Gene

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: -
SP4: - - -
SP5: - -

ExUns: 15b · 15c ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b · 20c
SP1: -
SP3: - -
SP6: - -

Relevant External Links for RECQL4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RECQL4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RECQL4 Gene

mRNA differential expression in normal tissues according to GTEx for RECQL4 Gene

This gene is overexpressed in Testis (x5.3).

Protein differential expression in normal tissues from HIPED for RECQL4 Gene

This gene is overexpressed in Lung (65.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RECQL4 Gene

Protein tissue co-expression partners for RECQL4 Gene

NURSA nuclear receptor signaling pathways regulating expression of RECQL4 Gene:


SOURCE GeneReport for Unigene cluster for RECQL4 Gene:


mRNA Expression by UniProt/SwissProt for RECQL4 Gene:

Tissue specificity: Ubiquitously expressed, with highest levels in thymus and testis.

Phenotype-based relationships between genes and organs from Gene ORGANizer for RECQL4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • skull
  • tooth
  • breast
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • uterus
  • vagina
  • vulva
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with RECQL4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Evidence on tissue expression from TISSUES for RECQL4 Gene

Orthologs for RECQL4 Gene

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

Orthologs for RECQL4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RECQL4 33
  • 98.79 (n)
(Bos Taurus)
Mammalia RECQL4 33 34
  • 76.37 (n)
(Rattus norvegicus)
Mammalia Recql4 33
  • 74.59 (n)
(Canis familiaris)
Mammalia RECQL4 33 34
  • 74.32 (n)
(Mus musculus)
Mammalia Recql4 33 16 34
  • 73.3 (n)
(Monodelphis domestica)
Mammalia RECQL4 34
  • 52 (a)
(Ornithorhynchus anatinus)
Mammalia RECQL4 34
  • 52 (a)
(Gallus gallus)
Aves RECQL4 34
  • 56 (a)
(Anolis carolinensis)
Reptilia RECQL4 34
  • 46 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia recql4 33
  • 57.01 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33379 33
(Danio rerio)
Actinopterygii LOC567383 33
  • 56.14 (n)
  • 37 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12516 33
fruit fly
(Drosophila melanogaster)
Insecta RecQ4 35 34
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SGS1 34
  • 13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1405 34
  • 6 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14107 33
Species where no ortholog for RECQL4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RECQL4 Gene

Gene Tree for RECQL4 (if available)
Gene Tree for RECQL4 (if available)

Paralogs for RECQL4 Gene

Paralogs for RECQL4 Gene

genes like me logo Genes that share paralogs with RECQL4: view

Variants for RECQL4 Gene

Sequence variations from dbSNP and Humsavar for RECQL4 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1004394987 uncertain-significance, Baller-Gerold syndrome 144,515,042(-) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1013860595 likely-benign, Baller-Gerold syndrome 144,512,866(-) A/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1016687510 uncertain-significance, Baller-Gerold syndrome 144,516,034(-) T/A/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1025483401 likely-benign, Baller-Gerold syndrome 144,514,291(-) T/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1026729951 uncertain-significance, Baller-Gerold syndrome 144,513,684(-) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RECQL4 Gene

Variant ID Type Subtype PubMed ID
dgv1207n67 CNV gain 20364138
dgv12434n54 CNV loss 21841781
dgv12439n54 CNV loss 21841781
dgv12442n54 CNV loss 21841781
dgv12443n54 CNV loss 21841781
dgv907n27 CNV loss 19166990
esv1092376 CNV insertion 17803354
esv1544139 CNV insertion 17803354
esv29999 CNV loss 17803354
nsv428208 CNV gain 18775914
nsv470249 CNV loss 18288195
nsv515809 CNV gain+loss 19592680
nsv612940 CNV loss 21841781
nsv612951 CNV loss 21841781
nsv612962 CNV loss 21841781
nsv612964 CNV loss 21841781
nsv612965 CNV loss 21841781
nsv831489 CNV loss 17160897

Variation tolerance for RECQL4 Gene

Gene Damage Index Score: 19.17; 98.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RECQL4 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RECQL4 Gene

Disorders for RECQL4 Gene

MalaCards: The human disease database

(10) MalaCards diseases for RECQL4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
baller-gerold syndrome
  • bgs
rapadilino syndrome
  • absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate
rothmund-thomson syndrome
  • rts
rothmund-thomson syndrome type 2
  • poikiloderma of rothmund-thomson type 2
poikiloderma with neutropenia
  • pn
- elite association - COSMIC cancer census association via MalaCards


  • Baller-Gerold syndrome (BGS) [MIM:218600]: An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. {ECO:0000269 PubMed:15964893}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • RAPADILINO syndrome (RAPADILINOS) [MIM:266280]: Disease characterized by radial and patellar aplasia or hypoplasia. {ECO:0000269 PubMed:12952869}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Rothmund-Thomson syndrome (RTS) [MIM:268400]: Characterized by dermatological features such as atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism. {ECO:0000269 PubMed:10552928}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RECQL4

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RECQL4: view

No data available for Genatlas for RECQL4 Gene

Publications for RECQL4 Gene

  1. Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. (PMID: 9878247) Kitao S … Shimamoto A (Genomics 1998) 2 3 4 22 58
  2. Variants in DNA double-strand break repair and DNA damage-response genes and susceptibility to lung and head and neck cancers. (PMID: 18449888) Danoy P … Benhamou S (International journal of cancer 2008) 3 22 44 58
  3. Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. (PMID: 18647888) Mehollin-Ray AR … Wang LL (AJR. American journal of roentgenology 2008) 3 22 44 58
  4. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. (PMID: 15964893) Van Maldergem L … Verloes A (Journal of medical genetics 2006) 3 4 22 58
  5. Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. (PMID: 15960976) Sangrithi MN … Venkitaraman AR (Cell 2005) 2 3 22 58

Products for RECQL4 Gene

Sources for RECQL4 Gene

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