The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transc... See more...

Aliases for HELZ2 Gene

Aliases for HELZ2 Gene

  • Helicase With Zinc Finger 2 2 3 5
  • Helicase With Zinc Finger 2, Transcriptional Coactivator 2 3 4
  • PRIC285 2 3 4
  • PDIP1 2 3 4
  • Peroxisomal Proliferator-Activated Receptor A-Interacting Complex 285 KDa Protein 3 4
  • PPAR-Gamma DNA-Binding Domain-Interacting Protein 1 3 4
  • PPAR-Alpha-Interacting Complex Protein 285 3 4
  • Helicase With Zinc Finger Domain 2 3 4
  • PPARG-DBD-Interacting Protein 1 2 3
  • ATP-Dependent Helicase PRIC285 3 4
  • KIAA1769 2 4
  • Peroxisomal Proliferator-Activated Receptor Alpha-Interacting Cofactor Complex, 285 KD Subunit 3
  • Peroxisomal Proliferator Activated Receptor A Interacting Complex 285 2
  • Peroxisomal Proliferator-Activated Receptor A Interacting Complex 285 3
  • PPARgamma-DNA-Binding Domain-Interacting Protein1 3
  • PPAR Gamma DBD-Interacting Protein 1 3
  • PPAR-Gamma DBD-Interacting Protein 1 4
  • PRIC Complex 3
  • EC 3.6.4.- 4
  • PDIP-1 3
  • HELZ2 5

External Ids for HELZ2 Gene

Previous GeneCards Identifiers for HELZ2 Gene

  • GC20M062190

Summaries for HELZ2 Gene

Entrez Gene Summary for HELZ2 Gene

  • The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for HELZ2 Gene

HELZ2 (Helicase With Zinc Finger 2) is a Protein Coding gene. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and BMAL1-CLOCK,NPAS2 activates circadian gene expression. Gene Ontology (GO) annotations related to this gene include nuclear receptor transcription coactivator activity. An important paralog of this gene is SETX.

UniProtKB/Swiss-Prot Summary for HELZ2 Gene

  • Helicase that acts as a transcriptional coactivator for a number of nuclear receptors including PPARA, PPARG, THRA, THRB and RXRA.

Gene Wiki entry for HELZ2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HELZ2 Gene

Genomics for HELZ2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HELZ2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HELZ2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HELZ2

Genomic Locations for HELZ2 Gene

Latest Assembly
chr20:63,558,086-63,574,239
(GRCh38/hg38)
Size:
16,154 bases
Orientation:
Minus strand

Previous Assembly
chr20:62,189,439-62,205,592
(GRCh37/hg19 by Entrez Gene)
Size:
16,154 bases
Orientation:
Minus strand

chr20:62,189,439-62,205,592
(GRCh37/hg19 by Ensembl)
Size:
16,154 bases
Orientation:
Minus strand

Genomic View for HELZ2 Gene

Genes around HELZ2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HELZ2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HELZ2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HELZ2 Gene

Proteins for HELZ2 Gene

  • Protein details for HELZ2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYK8-HELZ2_HUMAN
    Recommended name:
    Helicase with zinc finger domain 2
    Protein Accession:
    Q9BYK8
    Secondary Accessions:
    • Q3C2G2
    • Q4VXQ1
    • Q8TEF3
    • Q96ND3
    • Q9C094

    Protein attributes for HELZ2 Gene

    Size:
    2649 amino acids
    Molecular mass:
    294651 Da
    Quaternary structure:
    • Interacts with PPARA (via DNA-binding domain) and PPARG; the interaction stimulates the transcriptional activity of PPARA and PPARG. Interacts with THRAP3; the interaction is direct and HELZ2 and THRAP3 synergistically enhance the transcriptional activity of PPARG. It is probably part of the peroxisome proliferator activated receptor alpha interacting complex (PRIC).
    SequenceCaution:
    • Sequence=BAB70969.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 1]: More abundantly expressed than isoform 2.
    • [Isoform 3]: Incomplete sequence.

    Alternative splice isoforms for HELZ2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HELZ2 Gene

Post-translational modifications for HELZ2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HELZ2 Gene

No data available for DME Specific Peptides for HELZ2 Gene

Domains & Families for HELZ2 Gene

Gene Families for HELZ2 Gene

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

Protein Domains for HELZ2 Gene

Suggested Antigen Peptide Sequences for HELZ2 Gene

GenScript: Design optimal peptide antigens:
  • Peroxisomal proliferator-activated receptor A interacting complex 285 (A7E2C9_HUMAN)
  • PPAR-gamma DNA-binding domain-interacting protein 1 (PR285_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYK8

UniProtKB/Swiss-Prot:

HELZ2_HUMAN :
  • Contains 5 Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. These motifs are not required for interaction with PPARG.
  • Belongs to the DNA2/NAM7 helicase family.
Domain:
  • Contains 5 Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. These motifs are not required for interaction with PPARG.
Family:
  • Belongs to the DNA2/NAM7 helicase family.
genes like me logo Genes that share domains with HELZ2: view

Function for HELZ2 Gene

Molecular function for HELZ2 Gene

UniProtKB/Swiss-Prot Function:
Helicase that acts as a transcriptional coactivator for a number of nuclear receptors including PPARA, PPARG, THRA, THRB and RXRA.

Enzyme Numbers (IUBMB) for HELZ2 Gene

Phenotypes From GWAS Catalog for HELZ2 Gene

Gene Ontology (GO) - Molecular Function for HELZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding IBA 21873635
GO:0003724 RNA helicase activity IBA 21873635
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with HELZ2: view
genes like me logo Genes that share phenotypes with HELZ2: view

Animal Models for HELZ2 Gene

MGI Knock Outs for HELZ2:

miRNA for HELZ2 Gene

miRTarBase miRNAs that target HELZ2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HELZ2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HELZ2 Gene

Localization for HELZ2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HELZ2 Gene

Subcellular locations from

COMPARTMENTS
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 HELZ2 gene
Compartment Confidence
nucleus 5
peroxisome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for HELZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with HELZ2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HELZ2 Gene

Pathways & Interactions for HELZ2 Gene

genes like me logo Genes that share pathways with HELZ2: view

Gene Ontology (GO) - Biological Process for HELZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IBA 21873635
GO:0019216 regulation of lipid metabolic process TAS --
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 16239304
GO:0090501 RNA phosphodiester bond hydrolysis IEA --
genes like me logo Genes that share ontologies with HELZ2: view

No data available for SIGNOR curated interactions for HELZ2 Gene

Drugs & Compounds for HELZ2 Gene

No Compound Related Data Available

Transcripts for HELZ2 Gene

mRNA/cDNA for HELZ2 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HELZ2

Alternative Splicing Database (ASD) splice patterns (SP) for HELZ2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21
SP1: -
SP2: -
SP3:
SP4: - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for HELZ2 Gene

GeneLoc Exon Structure for
HELZ2

Expression for HELZ2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HELZ2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HELZ2 Gene

This gene is overexpressed in Whole Blood (x5.5).

Protein differential expression in normal tissues from HIPED for HELZ2 Gene

This gene is overexpressed in Breast (25.0), Serum (17.2), and Synovial fluid (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HELZ2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HELZ2

SOURCE GeneReport for Unigene cluster for HELZ2 Gene:

Hs.517180

mRNA Expression by UniProt/SwissProt for HELZ2 Gene:

Q9BYK8-HELZ2_HUMAN
Tissue specificity: Expressed in various tissues including heart, pancreas, skeletal muscle, colon, spleen, liver, kidney, lung, peripheral blood and placenta.

Evidence on tissue expression from TISSUES for HELZ2 Gene

  • Liver(4.3)
  • Spleen(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with HELZ2: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HELZ2 Gene

Orthologs for HELZ2 Gene

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

Orthologs for HELZ2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HELZ2 29 30
  • 98.83 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HELZ2 29 30
  • 80.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Helz2 29
  • 75.58 (n)
Mouse
(Mus musculus)
Mammalia Helz2 29 16 30
  • 74.98 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 55 (a)
OneToMany
-- 30
  • 53 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia HELZ2 30
  • 50 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HELZ2 29 30
  • 59.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HELZ2 30
  • 44 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101733680 29
  • 55.12 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC562461 29
  • 48.63 (n)
HELZ2 (1 of 3) 30
  • 47 (a)
OneToMany
helz2 30
  • 37 (a)
OneToMany
HELZ2 (2 of 3) 30
  • 35 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.71 29
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAM7 30
  • 22 (a)
OneToMany
Species where no ortholog for HELZ2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (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 HELZ2 Gene

ENSEMBL:
Gene Tree for HELZ2 (if available)
TreeFam:
Gene Tree for HELZ2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HELZ2: view image
Alliance of Genome Resources:
Additional Orthologs for HELZ2

Paralogs for HELZ2 Gene

Paralogs for HELZ2 Gene

(2) SIMAP similar genes for HELZ2 Gene using alignment to 1 proteins:

  • HELZ2_HUMAN
genes like me logo Genes that share paralogs with HELZ2: view

Variants for HELZ2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HELZ2 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs116816080 Likely Benign: not provided 63,567,608(-) G/A
NM_001037335.2(HELZ2):c.1750C>T (p.Arg584Trp)
MISSENSE
rs12479563 Benign: not provided 63,572,304(-) G/A
NM_001037335.2(HELZ2):c.82C>T (p.Arg28Cys)
MISSENSE
rs144355155 Benign: not provided 63,562,552(-) G/A
NM_001037335.2(HELZ2):c.6270C>T (p.Thr2090=)
SYNONYMOUS
rs35817585 Benign: not provided 63,565,367(-) G/Ap.Ser1152Leu
NM_001037335.2(HELZ2):c.3455C>T (p.Ser1152Leu)
MISSENSE
rs372169360 Benign: not provided 63,572,368(-) G/A
NM_001037335.2(HELZ2):c.18C>T (p.Ala6=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HELZ2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HELZ2 Gene

Variant ID Type Subtype PubMed ID
dgv35n64 CNV loss 17921354
dgv521n27 CNV loss 19166990
dgv522n27 CNV loss 19166990
dgv679e201 CNV deletion 23290073
dgv7667n54 CNV loss 21841781
dgv7668n54 CNV loss 21841781
dgv7669n54 CNV loss 21841781
esv1000908 CNV insertion 20482838
esv1272786 CNV insertion 17803354
esv1344882 CNV insertion 17803354
esv24758 CNV gain 19812545
esv2674115 CNV deletion 23128226
esv2722937 CNV deletion 23290073
esv2722938 CNV deletion 23290073
esv2722943 CNV deletion 23290073
esv2722944 CNV deletion 23290073
esv2722945 CNV deletion 23290073
esv2758806 CNV gain+loss 17122850
esv3336842 CNV duplication 20981092
nsv1148402 CNV deletion 26484159
nsv179406 CNV insertion 16902084
nsv470563 CNV loss 18288195
nsv473307 CNV novel sequence insertion 20440878
nsv517702 CNV loss 19592680
nsv521734 CNV loss 19592680
nsv586571 CNV loss 21841781
nsv586573 CNV loss 21841781
nsv586578 CNV loss 21841781
nsv834034 CNV loss 17160897
nsv953306 CNV deletion 24416366
nsv9825 CNV gain 18304495

Variation tolerance for HELZ2 Gene

Residual Variation Intolerance Score: 99.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.40; 95.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HELZ2 Gene

Human Gene Mutation Database (HGMD)
HELZ2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HELZ2
Leiden Open Variation Database (LOVD)
HELZ2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HELZ2 Gene

Disorders for HELZ2 Gene

Additional Disease Information for HELZ2

No disorders were found for HELZ2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HELZ2 Gene

Publications for HELZ2 Gene

  1. Isolation and characterization of a transcriptional cofactor and its novel isoform that bind the deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma. (PMID: 16239304) Tomaru T … Mori M (Endocrinology 2006) 2 3 4 22
  2. Identification of a transcriptionally active peroxisome proliferator-activated receptor alpha -interacting cofactor complex in rat liver and characterization of PRIC285 as a coactivator. (PMID: 12189208) Surapureddi S … Reddy JK (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4
  3. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
  4. THRAP3 interacts with HELZ2 and plays a novel role in adipocyte differentiation. (PMID: 23525231) Katano-Toki A … Mori M (Molecular endocrinology (Baltimore, Md.) 2013) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for HELZ2 Gene

Sources for HELZ2 Gene