Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HELZ Gene

Aliases for HELZ Gene

  • Helicase With Zinc Finger 2 3 5
  • Down-Regulated In Human Cancers Protein 3 4
  • DRHC 3 4
  • Probable Helicase With Zinc Finger Domain 3
  • Helicase With Zinc Finger Domain 3
  • Down-Regulated In Human Cancers 2
  • EC 3.6.4.- 4
  • KIAA0054 4
  • HUMORF5 3
  • DHRC 3

External Ids for HELZ Gene

Previous GeneCards Identifiers for HELZ Gene

  • GC17P063140
  • GC17P066240
  • GC17M065491
  • GC17M065624
  • GC17M062504
  • GC17M065066
  • GC17M060455

Summaries for HELZ Gene

Entrez Gene Summary for HELZ Gene

  • HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]

GeneCards Summary for HELZ Gene

HELZ (Helicase With Zinc Finger) is a Protein Coding gene. Diseases associated with HELZ include Conjunctival Squamous Cell Carcinoma and Conjunctival Cancer. Gene Ontology (GO) annotations related to this gene include helicase activity. An important paralog of this gene is HELZ2.

UniProtKB/Swiss-Prot for HELZ Gene

  • May act as a helicase that plays a role in RNA metabolism in multiple tissues and organs within the developing embryo.

Additional gene information for HELZ Gene

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

Genomics for HELZ Gene

GeneHancer (GH) Regulatory Elements for HELZ Gene

Promoters and enhancers for HELZ 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
GH17I067243 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 555.5 +0.3 260 4.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B HELZ LOC101928021 ENSG00000264421 PITPNC1 CACNG1
GH17I067438 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 86.2 -195.8 -195789 6.4 PKNOX1 FOXA2 ZNF529 ZFP64 MZF1 ZNF121 ZNF213 ZNF354C ZNF138 RCOR1 BPTF NOL11 HELZ LOC100418928 ENSG00000267731 MIR548AA2 MIR548D2 PITPNC1 SLC16A6 RN7SL756P
GH17I067992 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 49.5 -748.8 -748805 4.5 CLOCK ZFP64 YBX1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 ZNF610 C17orf58 NOL11 HELZ BPTF LRRC37A16P ENSG00000265055 ENSG00000267731 LOC100418928 ENSG00000265100 WIPI1
GH17I067824 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 38.9 -580.1 -580145 3.7 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 ZNF143 ZNF548 ZNF263 SP3 BPTF NOL11 HELZ SH3GL1P3 LOC100418928 ENSG00000267731 LINC00674 ENSG00000265055 PITPNC1 SLC16A6
GH17I067509 Enhancer 1.3 FANTOM5 Ensembl ENCODE 49.4 -264.2 -264181 1.2 ZNF529 ZFP64 ZBTB7B RAD21 ZNF213 ZNF354C ZNF138 ETV6 ATF7 IKZF2 BPTF NOL11 HELZ LOC100418928 ENSG00000267731 PSMD12 ENSG00000264754 GC17M067472 MIR548D2 PITPNC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HELZ on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for HELZ Gene

Genomic Locations for HELZ Gene
175,552 bases
Minus strand

Genomic View for HELZ Gene

Genes around HELZ on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HELZ Gene

Proteins for HELZ Gene

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

    Protein Symbol:
    Recommended name:
    Probable helicase with zinc finger domain
    Protein Accession:
    Secondary Accessions:
    • I6L9H4

    Protein attributes for HELZ Gene

    1942 amino acids
    Molecular mass:
    218970 Da
    Quaternary structure:
    • Interacts with SMYD2 (By similarity). Interacts with POLR2A. Interacts with SMYD3; the interaction may bridge SMYD3 and RNA polymerase II.
    • Sequence=BAA06147.3; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for HELZ Gene


neXtProt entry for HELZ Gene

Post-translational modifications for HELZ Gene

  • Ubiquitination at isoforms=256
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HELZ Gene

Domains & Families for HELZ Gene

Gene Families for HELZ Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for HELZ Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the DNA2/NAM7 helicase family.
  • Belongs to the DNA2/NAM7 helicase family.
genes like me logo Genes that share domains with HELZ: view

Function for HELZ Gene

Molecular function for HELZ Gene

UniProtKB/Swiss-Prot Function:
May act as a helicase that plays a role in RNA metabolism in multiple tissues and organs within the developing embryo.

Enzyme Numbers (IUBMB) for HELZ Gene

Phenotypes From GWAS Catalog for HELZ Gene

Gene Ontology (GO) - Molecular Function for HELZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IDA 22658674
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 24606901
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with HELZ: view
genes like me logo Genes that share phenotypes with HELZ: view

Clone Products

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

Localization for HELZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for HELZ Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HELZ gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytoskeleton 2
cytosol 2
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Nucleoli (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HELZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HELZ: view

Pathways & Interactions for HELZ Gene

No Data Available

Gene Ontology (GO) - Biological Process for HELZ Gene


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

Drugs & Compounds for HELZ Gene

No Compound Related Data Available

Transcripts for HELZ Gene

Unigene Clusters for HELZ Gene

Helicase with zinc finger:
Representative Sequences:

Clone Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: -
SP2: -
SP4: - -
SP5: -

ExUns: 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b
SP1: -

Relevant External Links for HELZ Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HELZ Gene

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

Protein differential expression in normal tissues from HIPED for HELZ Gene

This gene is overexpressed in Breast (18.1), Testis (17.3), Peripheral blood mononuclear cells (11.8), and Plasma (11.4).

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

Protein tissue co-expression partners for HELZ Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HELZ Gene:


SOURCE GeneReport for Unigene cluster for HELZ Gene:


mRNA Expression by UniProt/SwissProt for HELZ Gene:

Tissue specificity: Expressed predominantly in thymus and brain. Expression is down-regulated in 28 of 95 tested cancer cell lines.

Evidence on tissue expression from TISSUES for HELZ Gene

  • Liver(4.4)
  • Bone marrow(4.3)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with HELZ: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HELZ Gene

Orthologs for HELZ Gene

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

Orthologs for HELZ Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HELZ 33 34
  • 99.67 (n)
(Canis familiaris)
Mammalia HELZ 33 34
  • 94.22 (n)
(Bos Taurus)
Mammalia HELZ 33 34
  • 89.47 (n)
(Rattus norvegicus)
Mammalia Helz 33
  • 87.97 (n)
(Mus musculus)
Mammalia Helz 33 16 34
  • 87.83 (n)
(Monodelphis domestica)
Mammalia HELZ 34
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia HELZ 34
  • 85 (a)
(Gallus gallus)
Aves -- 34
  • 86 (a)
  • 82.91 (n)
-- 34
  • 82 (a)
(Anolis carolinensis)
Reptilia HELZ 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia helz 33
  • 71.86 (n)
Str.15539 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.9984 33
(Danio rerio)
Actinopterygii helz 33 34
  • 66.84 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5746 33
fruit fly
(Drosophila melanogaster)
Insecta CG9425 35 34
  • 49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAM7 34
  • 16 (a)
Species where no ortholog for HELZ 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 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)
  • worm (Caenorhabditis elegans)

Evolution for HELZ Gene

Gene Tree for HELZ (if available)
Gene Tree for HELZ (if available)

Paralogs for HELZ Gene

Paralogs for HELZ Gene

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

Variants for HELZ Gene

Sequence variations from dbSNP and Humsavar for HELZ Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1060499747 likely-pathogenic, Abnormality of brain morphology 67,128,716(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000011650 -- 67,155,639(-) C/T intron_variant
rs1000020750 -- 67,077,820(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000030591 -- 67,077,531(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000054868 -- 67,201,508(-) A/G genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv3276n100 CNV loss 25217958
esv2558362 CNV insertion 19546169
nsv1059962 CNV loss 25217958
nsv1067245 CNV loss 25217958
nsv1120054 OTHER inversion 24896259
nsv1125640 CNV tandem duplication 24896259
nsv469731 CNV loss 16826518
nsv960525 CNV duplication 23825009

Variation tolerance for HELZ Gene

Residual Variation Intolerance Score: 4.15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.24; 90.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HELZ Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HELZ Gene

MalaCards: The human disease database

(2) MalaCards diseases for HELZ Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
conjunctival squamous cell carcinoma
  • conjunctival epidermoid carcinoma
conjunctival cancer
  • conjunctival tumor
- elite association - COSMIC cancer census association via MalaCards
Search HELZ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HELZ

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 HELZ: view

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

Publications for HELZ Gene

  1. Down-regulation in human cancers of DRHC, a novel helicase-like gene from 17q25.1 that inhibits cell growth. (PMID: 12691822) Nagai H … Emi M (Cancer letters 2003) 2 3 4 58
  2. Identification of a differentially expressed RNA helicase by gene trapping. (PMID: 10471385) Wagner DS … Klein WH (Biochemical and biophysical research communications 1999) 2 3 4 58
  3. Analysis of multiple candidate genes in association with phenotypes of multiple sclerosis. (PMID: 20378664) Sombekke MH … Uitdehaag BM (Multiple sclerosis (Houndmills, Basingstoke, England) 2010) 3 44 58
  4. SMYD3 encodes a histone methyltransferase involved in the proliferation of cancer cells. (PMID: 15235609) Hamamoto R … Nakamura Y (Nature cell biology 2004) 3 4 58
  5. Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7584044) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 3 4 58

Products for HELZ Gene

Sources for HELZ Gene

Loading form....