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Aliases for HELQ Gene

Aliases for HELQ Gene

  • Helicase, POLQ-Like 2 3 5
  • Mus308-Like Helicase 3 4
  • POLQ-Like Helicase 3 4
  • HEL308 3 4
  • DNA Helicase HEL308 3
  • EC 4
  • EC 3.6.1 63

External Ids for HELQ Gene

Previous GeneCards Identifiers for HELQ Gene

  • GC04M084548
  • GC04M084328
  • GC04M080071

Summaries for HELQ Gene

Entrez Gene Summary for HELQ Gene

  • HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]

GeneCards Summary for HELQ Gene

HELQ (Helicase, POLQ-Like) is a Protein Coding gene. Diseases associated with HELQ include Fanconi Anemia, Complementation Group A. GO annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is SNRNP200.

UniProtKB/Swiss-Prot for HELQ Gene

  • DNA-dependent ATPase and 5 to 3 DNA helicase.

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

Genomics for HELQ Gene

Regulatory Elements for HELQ Gene

Enhancers for HELQ Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HELQ on UCSC Golden Path with GeneCards custom track

Promoters for HELQ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HELQ on UCSC Golden Path with GeneCards custom track

Genomic Location for HELQ Gene

83,407,343 bp from pter
83,455,883 bp from pter
48,541 bases
Minus strand

Genomic View for HELQ Gene

Genes around HELQ on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HELQ Gene

Proteins for HELQ Gene

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

    Protein Symbol:
    Recommended name:
    Helicase POLQ-like
    Protein Accession:
    Secondary Accessions:
    • Q05DF9
    • Q502W9
    • Q659B8
    • Q6ZQX4
    • Q6ZTS4
    • Q96EX7

    Protein attributes for HELQ Gene

    1101 amino acids
    Molecular mass:
    124131 Da
    Quaternary structure:
    • Hexamer.
    • ATPase activity is strongly stimulated by single-stranded DNA. Presence of ATP and Mg cofactor are required for helicase activity allowing to unwind duplex oligonucleotides up to 60-70-mer. This helicase activity is stimulated by replication protein RPA that binds to unwound regions and inhibits re-annealing.

    Alternative splice isoforms for HELQ Gene


neXtProt entry for HELQ Gene

Proteomics data for HELQ Gene at MOPED

Selected DME Specific Peptides for HELQ Gene

Post-translational modifications for HELQ Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HELQ Gene

Domains & Families for HELQ Gene

Gene Families for HELQ Gene

Protein Domains for HELQ Gene

Suggested Antigen Peptide Sequences for HELQ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 helicase ATP-binding domain.
  • Belongs to the helicase family. SKI2 subfamily.
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
  • Belongs to the helicase family. SKI2 subfamily.
genes like me logo Genes that share domains with HELQ: view

Function for HELQ Gene

Molecular function for HELQ Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
DNA-dependent ATPase and 5 to 3 DNA helicase.

Enzyme Numbers (IUBMB) for HELQ Gene

Gene Ontology (GO) - Molecular Function for HELQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with HELQ: view
genes like me logo Genes that share phenotypes with HELQ: view

Animal Model Products

miRNA for HELQ Gene

miRTarBase miRNAs that target HELQ

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HELQ Gene

Localization for HELQ Gene

Subcellular locations from

Jensen Localization Image for HELQ Gene COMPARTMENTS Subcellular localization image for HELQ gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for HELQ Gene

Pathways & Interactions for HELQ Gene

SuperPathways for HELQ Gene

No Data Available

Gene Ontology (GO) - Biological Process for HELQ Gene


No data available for Pathways by source and SIGNOR curated interactions for HELQ Gene

Drugs & Compounds for HELQ Gene

(1) Drugs for HELQ Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for HELQ Gene - From: 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
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
  • Dihydrogen oxide
  • Steam
genes like me logo Genes that share compounds with HELQ: view

Transcripts for HELQ Gene

Unigene Clusters for HELQ Gene

Helicase, POLQ-like:
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^
SP1: - - - -
SP3: - - - -
SP4: - -

ExUns: 18 ^ 19

Relevant External Links for HELQ Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HELQ Gene

mRNA expression in normal human tissues for HELQ Gene

Protein differential expression in normal tissues from HIPED for HELQ Gene

This gene is overexpressed in Lung (69.0).

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

SOURCE GeneReport for Unigene cluster for HELQ Gene Hs.480101

genes like me logo Genes that share expression patterns with HELQ: view

Protein tissue co-expression partners for HELQ Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HELQ Gene

Orthologs for HELQ Gene

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

Orthologs for HELQ Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia HELQ 35
  • 86.27 (n)
  • 83.69 (a)
-- 36
  • 72 (a)
(Canis familiaris)
Mammalia HELQ 35
  • 88.44 (n)
  • 85.94 (a)
  • 84 (a)
(Mus musculus)
Mammalia Helq 35
  • 79.29 (n)
  • 78.6 (a)
Helq 16
Helq 36
  • 77 (a)
(Pan troglodytes)
Mammalia HELQ 35
  • 99.36 (n)
  • 99.09 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Helq 35
  • 78.98 (n)
  • 79.11 (a)
(Monodelphis domestica)
Mammalia HELQ 36
  • 72 (a)
(Ornithorhynchus anatinus)
Mammalia HELQ 36
  • 74 (a)
(Gallus gallus)
Aves HELQ 35
  • 69.72 (n)
  • 68.82 (a)
  • 66 (a)
(Anolis carolinensis)
Reptilia HELQ 36
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia helq 35
  • 66.77 (n)
  • 66.04 (a)
(Danio rerio)
Actinopterygii Dr.16890 35
helq 35
  • 61.62 (n)
  • 60.88 (a)
helq 36
  • 57 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012297 35
  • 48.26 (n)
  • 44.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta mus301 35
  • 50.48 (n)
  • 45.82 (a)
mus301 36
  • 37 (a)
(Caenorhabditis elegans)
Secernentea helq-1 35
  • 49.91 (n)
  • 41.2 (a)
helq-1 36
  • 37 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BRR2 36
  • 9 (a)
Species with no ortholog for HELQ:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for HELQ Gene

Gene Tree for HELQ (if available)
Gene Tree for HELQ (if available)

Paralogs for HELQ Gene

Paralogs for HELQ Gene

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

Variants for HELQ Gene

Sequence variations from dbSNP and Humsavar for HELQ Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_042643 A breast cancer sample
rs17006837 - 83,453,539(+) GGGGC(A/G)GTTCC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs6817280 - 83,439,918(+) ACTAG(A/G/T)ACAAA nc-transcript-variant, reference, missense
rs17006794 - 83,407,479(+) AGCCA(C/T)AGCAC nc-transcript-variant, reference, missense
VAR_061213 -

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

Variant ID Type Subtype PubMed ID
nsv829992 CNV Loss 17160897
nsv509909 CNV Loss 20534489
esv2675432 CNV Deletion 23128226
nsv829994 CNV Loss 17160897
nsv879512 CNV Gain 21882294

Variation tolerance for HELQ Gene

Residual Variation Intolerance Score: 71.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.13; 80.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HELQ Gene

Human Gene Mutation Database (HGMD)

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

Disorders for HELQ Gene

MalaCards: The human disease database

(1) MalaCards diseases for HELQ Gene - From: DISEASES

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards
Search HELQ in MalaCards View complete list of genes associated with diseases

Relevant External Links for HELQ

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with HELQ: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HELQ Gene

Publications for HELQ Gene

  1. A human DNA helicase homologous to the DNA cross-link sensitivity protein Mus308. (PMID: 11751861) Marini F. … Wood R.D. (J. Biol. Chem. 2002) 2 3 4 67
  2. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X. … Vidal M. (Cell 2016) 3
  3. Genetic variants in DNA repair pathways and risk of upper aerodigestive tract cancers: combined analysis of data from two genome-wide association studies in European populations. (PMID: 24658182) Babron M.C. … Benhamou S. (Carcinogenesis 2014) 3
  4. Human DNA helicase HELQ participates in DNA interstrand crosslink tolerance with ATR and RAD51 paralogs. (PMID: 24005565) Takata K. … Wood R.D. (Nat Commun 2013) 3
  5. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (PMID: 22267201) Stolk L. … Lunetta K.L. (Nat. Genet. 2012) 3

Products for HELQ Gene

Sources for HELQ Gene