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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 3.6.4.12 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. GO annotations related to this gene include nucleic acid binding and annealing helicase activity. An important paralog of this gene is BLM.

UniProtKB/Swiss-Prot for RECQL4 Gene

  • DNA-dependent ATPase. May modulate chromosome segregation.

Gene Wiki entry for RECQL4 Gene

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

Genomics for RECQL4 Gene

Regulatory Elements for RECQL4 Gene

Enhancers for RECQL4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F144683 1.7 FANTOM5 Ensembl ENCODE 6.9 -168.1 -168088 4.5 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 SP3 SP5 C8orf82 ZNF34 RECQL4 ADCK5 ZNF252P RPL8 SCRT1 ARHGAP39 KIFC2 LRRC24
GH08F144583 0.9 Ensembl ENCODE 6.4 -65.7 -65704 0.5 BHLHE40 MAX RECQL4 C8orf82 ENSG00000255456
GH08F144500 0.6 ENCODE 6.2 +15.1 15130 4.5 MLX ARID4B DMAP1 ZNF48 YY1 GLIS2 PAF1 SP5 NFYC MXD4 PPP1R16A RECQL4 LOC105375803 GPT
GH08F144521 1.1 ENCODE 5.9 -4.9 -4928 2.5 ATF1 CREB3L1 SIN3A BRCA1 YY1 GLIS2 ELK1 ZNF143 ZNF207 KDM4B PPP1R16A C8orf82 RECQL4 GPAA1 GC08P144524 GC08M144559 PIR49945 PIR54029
GH08F144675 0.9 Ensembl ENCODE 5.4 -157.8 -157781 0.9 LOC105375803 RECQL4 GC08M144667 PIR33489
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RECQL4 on UCSC Golden Path with GeneCards custom track

Promoters for RECQL4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001404460 -55 1801 ATF1 CREB3L1 ARID4B SIN3A BRCA1 GLIS2 ELK1 ZNF143 ZNF207 FOS

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

Genomic Location for RECQL4 Gene

Chromosome:
8
Start:
144,511,284 bp from pter
End:
144,517,845 bp from pter
Size:
6,562 bases
Orientation:
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:
    O94761-RECQ4_HUMAN
    Recommended name:
    ATP-dependent DNA helicase Q4
    Protein Accession:
    O94761
    Secondary Accessions:
    • Q3Y424
    • Q96DW2
    • Q96F55

    Protein attributes for RECQL4 Gene

    Size:
    1208 amino acids
    Molecular mass:
    133077 Da
    Quaternary structure:
    • Interacts with UBR1 and UBR2. Interacts with MCM10; this interaction regulates RECQL4 unwinding activity.
    SequenceCaution:
    • 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

Suggested Antigen Peptide Sequences for RECQL4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94761

UniProtKB/Swiss-Prot:

RECQ4_HUMAN :
  • Contains 1 helicase ATP-binding domain.
  • Belongs to the helicase family. RecQ subfamily.
Domain:
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
Family:
  • 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

Gene Ontology (GO) - Molecular Function for RECQL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000405 bubble DNA binding IDA 19177149
GO:0005515 protein binding IPI 21044950
GO:0005524 ATP binding IEA,IDA 19177149
GO:0008026 ATP-dependent helicase activity IEA --
GO:0009378 four-way junction helicase activity IBA --
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

Inhibitory RNA Products

Flow Cytometry 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.

Gene Ontology (GO) - Cellular Components for RECQL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005694 chromosome IBA --
GO:0005737 cytoplasm IBA --
GO:0016020 membrane IDA 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:0000733 DNA strand renaturation IDA 19177149
GO:0006260 DNA replication IDA 19177149
GO:0006281 DNA repair TAS 9878247
GO:0006284 base-excision repair IBA --
GO:0006302 double-strand break repair IBA --
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
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 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:

Inhibitory RNA Products

Flow Cytometry 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: -
SP3:
SP4: - - -
SP5: - -
SP6:
SP7:
SP8:

ExUns: 15b · 15c ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b · 20c
SP1: -
SP2:
SP3: - -
SP4:
SP5:
SP6: - -
SP7:
SP8:

Relevant External Links for RECQL4 Gene

GeneLoc Exon Structure for
RECQL4
ECgene alternative splicing isoforms for
RECQL4

Expression for RECQL4 Gene

mRNA expression in normal human tissues 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:

RECQL4

SOURCE GeneReport for Unigene cluster for RECQL4 Gene:

Hs.31442

mRNA Expression by UniProt/SwissProt for RECQL4 Gene:

O94761-RECQ4_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in thymus and testis.
genes like me logo Genes that share expression patterns with RECQL4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
chimpanzee
(Pan troglodytes)
Mammalia RECQL4 34
  • 98.79 (n)
cow
(Bos Taurus)
Mammalia RECQL4 34 35
  • 76.37 (n)
rat
(Rattus norvegicus)
Mammalia Recql4 34
  • 74.59 (n)
dog
(Canis familiaris)
Mammalia RECQL4 34 35
  • 74.32 (n)
mouse
(Mus musculus)
Mammalia Recql4 34 16 35
  • 73.3 (n)
oppossum
(Monodelphis domestica)
Mammalia RECQL4 35
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RECQL4 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves RECQL4 35
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RECQL4 35
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia recql4 34
  • 57.01 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33379 34
zebrafish
(Danio rerio)
Actinopterygii LOC567383 34
  • 56.14 (n)
RECQL4 35
  • 37 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12516 34
fruit fly
(Drosophila melanogaster)
Insecta RecQ4 36 35
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SGS1 35
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1405 35
  • 6 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14107 34
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

ENSEMBL:
Gene Tree for RECQL4 (if available)
TreeFam:
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 Sequence Context AA Info Type
VAR_026591 Baller-Gerold syndrome (BGS) [MIM:218600]
rs117642173 Pathogenic 144,515,243(+) CGTCT(C/T)TGCAG splice-acceptor-variant
rs137853229 Pathogenic 144,513,412(-) GGGTA(C/T)AGCGA intron-variant, nc-transcript-variant, reference, stop-gained
rs137853231 Pathogenic 144,516,313(-) GCCCT(A/C/G)GGAGA nc-transcript-variant, upstream-variant-2KB, reference, missense, stop-gained, utr-variant-5-prime
rs137853232 Pathogenic 144,512,319(-) GTGTG(C/T)GGCGT intron-variant, nc-transcript-variant, reference, missense

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)

Relevant External Links for RECQL4 Gene

Human Gene Mutation Database (HGMD)
RECQL4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RECQL4

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

Disorders for RECQL4 Gene

MalaCards: The human disease database

(11) MalaCards diseases for RECQL4 Gene - From: OMIM, ClinVar, GeneTests, 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
  • erythrokeratodermia variabilis
rothmund-thomson syndrome type 2
  • poikiloderma of rothmund-thomson type 2
recql4-related disorders
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RECQ4_HUMAN
  • 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.

Relevant External Links for RECQL4

Genetic Association Database (GAD)
RECQL4
Human Genome Epidemiology (HuGE) Navigator
RECQL4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RECQL4
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 64
  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. (Int. J. Cancer 2008) 3 22 46 64
  3. Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. (PMID: 18647888) Mehollin-Ray A.R. … Wang L.L. (AJR Am J Roentgenol 2008) 3 22 46 64
  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. (J. Med. Genet. 2006) 3 4 22 64
  5. Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. (PMID: 15960976) Sangrithi M.N. … Venkitaraman A.R. (Cell 2005) 2 3 22 64

Products for RECQL4 Gene

Sources for RECQL4 Gene

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