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Aliases for HELT Gene

Aliases for HELT Gene

  • Helt BHLH Transcription Factor 2 3 5
  • HES/HEY-Like Transcription Factor 2 3 4
  • Megane BHLH Factor 2 3
  • Hairy And Enhancer Of Split-Related Protein HELT 3
  • Hey-Like Transcription Factor (Zebrafish) 2
  • Hey-Like Transcriptional Repressor 3
  • Hes-Like Transcription Factor 3
  • Hey-Like Transcription Factor 3
  • HES-Like 2
  • HCM1228 3
  • BHLHb44 3
  • HESL 3
  • Mgn 3

External Ids for HELT Gene

Previous GeneCards Identifiers for HELT Gene

  • GC04P186635
  • GC04P186315
  • GC04P186177
  • GC04P185940
  • GC04P181693

Summaries for HELT Gene

GeneCards Summary for HELT Gene

HELT (Helt BHLH Transcription Factor) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and protein dimerization activity. An important paralog of this gene is HEY1.

UniProtKB/Swiss-Prot for HELT Gene

  • Transcriptional repressor which binds preferentially to the canonical E box sequence 5-CACGCG-3.

Additional gene information for HELT Gene

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

Genomics for HELT Gene

GeneHancer (GH) Regulatory Elements for HELT Gene

Promoters and enhancers for HELT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I185018 Promoter 0.7 EPDnew 550.8 0.0 -26 0.1 ZNF335 ZBTB26 EZH2 HELT LINC02437
GH04I184983 Enhancer 0.9 Ensembl ENCODE 35.3 -34.9 -34922 1 GATAD2A CTCF RXRA ZBTB11 BACH1 REST RAD21 GABPA MIER3 KLF16 LINC02437 HELT ACSL1 ENSG00000279460 GC04P184973
GH04I185115 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.3 +97.3 97286 0.7 HDGF ATF1 ARID4B YY1 TCF12 POLR2B GATA2 FOS ATF7 RXRA SLC25A4 HELT LOC105377588
GH04I184745 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.1 -271.2 -271178 4.1 HDGF ATF1 FOXA2 ARID4B TCF12 ZNF766 ARID2 ZNF143 ATF7 RXRA CENPU ENSG00000251139 ACSL1 HELT CASP3 PRIMPOL PIR41861 SLED1
GH04I185111 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.1 +94.1 94073 3 HDAC1 JUN MAX YY1 FOSL1 POLR3A NCOR1 FOSL2 FOS SMARCE1 SLC25A4 HELT LOC105377588
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HELT on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for HELT Gene

Genomic Locations for HELT Gene
chr4:185,018,841-185,020,804
(GRCh38/hg38)
Size:
1,964 bases
Orientation:
Plus strand
chr4:185,939,995-185,941,958
(GRCh37/hg19)

Genomic View for HELT Gene

Genes around HELT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HELT Gene

Proteins for HELT Gene

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

    Protein Symbol:
    A6NFD8-HELT_HUMAN
    Recommended name:
    Hairy and enhancer of split-related protein HELT
    Protein Accession:
    A6NFD8
    Secondary Accessions:
    • B2RTS5
    • B7ZMI7
    • B7ZMI8

    Protein attributes for HELT Gene

    Size:
    242 amino acids
    Molecular mass:
    26913 Da
    Quaternary structure:
    • Self-associates. Interacts with HES5 and HEY2 (By similarity).

    Alternative splice isoforms for HELT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HELT Gene

Post-translational modifications for HELT Gene

No Post-translational modifications

Other Protein References for HELT Gene

No data available for DME Specific Peptides for HELT Gene

Domains & Families for HELT Gene

Gene Families for HELT Gene

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

Protein Domains for HELT Gene

Suggested Antigen Peptide Sequences for HELT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A6NFD8

UniProtKB/Swiss-Prot:

HELT_HUMAN :
  • Belongs to the HEY family.
Family:
  • Belongs to the HEY family.
genes like me logo Genes that share domains with HELT: view

Function for HELT Gene

Molecular function for HELT Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor which binds preferentially to the canonical E box sequence 5-CACGCG-3.

Gene Ontology (GO) - Molecular Function for HELT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with HELT: view
genes like me logo Genes that share phenotypes with HELT: view

Animal Models for HELT Gene

MGI Knock Outs for HELT:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for HELT Gene

Localization for HELT Gene

Subcellular locations from UniProtKB/Swiss-Prot for HELT 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 HELT gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for HELT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with HELT: view

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

Pathways & Interactions for HELT Gene

No Data Available

Gene Ontology (GO) - Biological Process for HELT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001967 suckling behavior IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007417 central nervous system development IEA --
genes like me logo Genes that share ontologies with HELT: view

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

Drugs & Compounds for HELT Gene

No Compound Related Data Available

Transcripts for HELT Gene

mRNA/cDNA for HELT Gene

(4) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HELT Gene

Helt bHLH transcription factor:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for HELT Gene

GeneLoc Exon Structure for
HELT
ECgene alternative splicing isoforms for
HELT

Expression for HELT Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x20.5), Skin - Not Sun Exposed (Suprapubic) (x13.4), Kidney - Cortex (x7.6), and Lung (x4.0).

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



NURSA nuclear receptor signaling pathways regulating expression of HELT Gene:

HELT

SOURCE GeneReport for Unigene cluster for HELT Gene:

Hs.531242
genes like me logo Genes that share expression patterns with HELT: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HELT Gene

Orthologs for HELT Gene

This gene was present in the common ancestor of animals.

Orthologs for HELT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HELT 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia HELT 33 34
  • 90.01 (n)
oppossum
(Monodelphis domestica)
Mammalia HELT 34
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HELT 33 34
  • 89.45 (n)
rat
(Rattus norvegicus)
Mammalia Helt 33
  • 86.52 (n)
mouse
(Mus musculus)
Mammalia Helt 33 16 34
  • 85.96 (n)
chicken
(Gallus gallus)
Aves HELT 33
  • 71.03 (n)
lizard
(Anolis carolinensis)
Reptilia HELT 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia helt 33
  • 69.48 (n)
zebrafish
(Danio rerio)
Actinopterygii helt 33 34
  • 71.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta cwo 34
  • 9 (a)
OneToOne
Species where no ortholog for HELT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for HELT Gene

ENSEMBL:
Gene Tree for HELT (if available)
TreeFam:
Gene Tree for HELT (if available)

Paralogs for HELT Gene

Paralogs for HELT Gene

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

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

Variants for HELT Gene

Sequence variations from dbSNP and Humsavar for HELT Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000423070 -- 185,017,863(+) A/C upstream_transcript_variant
rs1000506485 -- 185,021,748(+) A/AA downstream_transcript_variant
rs1002412120 -- 185,018,225(+) A/C upstream_transcript_variant
rs1002729140 -- 185,018,198(+) C/T upstream_transcript_variant
rs1002784837 -- 185,018,466(+) C/T upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv461859 CNV loss 19166990
nsv596369 CNV loss 21841781
nsv822881 CNV gain 20364138

Variation tolerance for HELT Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.98; 74.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HELT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HELT

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

Disorders for HELT Gene

Additional Disease Information for HELT

No disorders were found for HELT Gene.

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

Publications for HELT Gene

  1. Helt determines GABAergic over glutamatergic neuronal fate by repressing Ngn genes in the developing mesencephalon. (PMID: 17611227) Nakatani T … Ono Y (Development (Cambridge, England) 2007) 2 3 58
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Helt, a novel basic-helix-loop-helix transcriptional repressor expressed in the developing central nervous system. (PMID: 14764602) Nakatani T … Ono Y (The Journal of biological chemistry 2004) 2 3 58
  5. Phosphorylation of the chromatin remodeling factor DPF3a induces cardiac hypertrophy through releasing HEY repressors from DNA. (PMID: 26582913) Cui H … Sperling SR (Nucleic acids research 2016) 3 58

Products for HELT Gene

Sources for HELT Gene

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