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Aliases for HEYL Gene

Aliases for HEYL Gene

  • Hes Related Family BHLH Transcription Factor With YRPW Motif-Like 2 3 5
  • Hairy/Enhancer-Of-Split Related With YRPW Motif 3 2 3
  • Class B Basic Helix-Loop-Helix Protein 33 3 4
  • Hairy-Related Transcription Factor 3 3 4
  • BHLHb33 3 4
  • HRT-3 3 4
  • HHRT3 3 4
  • HHeyL 3 4
  • HRT3 3 4
  • Hes-Related Family BHLH Transcription Factor With YRPW Motif-Like 2
  • Hairy/Enhancer-Of-Split Related With YRPW Motif-Like Protein 3
  • Hairy/Enhancer-Of-Split Related With YRPW Motif-Like 2
  • HEY-Like Protein 3
  • BHLHB33 4
  • HESR3 3
  • HEY3 3

External Ids for HEYL Gene

Previous GeneCards Identifiers for HEYL Gene

  • GC01M040119
  • GC01M039093
  • GC01M039553
  • GC01M039503
  • GC01M039492
  • GC01M039741
  • GC01M039862
  • GC01M038207

Summaries for HEYL Gene

Entrez Gene Summary for HEYL Gene

  • This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for HEYL Gene

HEYL (Hes Related Family BHLH Transcription Factor With YRPW Motif-Like) is a Protein Coding gene. Diseases associated with HEYL include Cerebellopontine Angle Meningioma and Cerebellopontine Angle Tumor. Among its related pathways are HIV Life Cycle and Gastric cancer. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is HEY2.

UniProtKB/Swiss-Prot for HEYL Gene

  • Downstream effector of Notch signaling which may be required for cardiovascular development (By similarity). Transcriptional repressor which binds preferentially to the canonical E box sequence 5-CACGTG-3 (By similarity). Represses transcription by the cardiac transcriptional activators GATA4 and GATA6.

Gene Wiki entry for HEYL Gene

Additional gene information for HEYL Gene

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

Genomics for HEYL Gene

GeneHancer (GH) Regulatory Elements for HEYL Gene

Promoters and enhancers for HEYL 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
GH01J039638 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 659.3 +0.3 277 2.5 ATF1 SIN3A ZNF2 YY1 ZNF121 GLIS2 ZNF213 ZNF143 ATF7 SP3 HEYL EXO5 PPIE HPCAL4 PPIEL OXCT2P1 ENSG00000225903 OXCT2
GH01J039798 Enhancer 1.2 Ensembl ENCODE 11 -160.0 -159999 2.4 HDGF FOXA2 ARNT SIN3A FEZF1 ZNF2 ZNF766 CBX5 E2F8 ZNF207 ENSG00000284719 GC01P039800 HEYL ENSG00000225903 ENSG00000202222 TRIT1 LOC105378668 CAP1 EXO5 OXCT2
GH01J039609 Enhancer 1 Ensembl ENCODE 12.3 +30.0 29954 1.1 RB1 SIN3A ZNF2 ZNF48 RAD21 CHAMP1 ZNF143 THAP11 EGR2 KAT8 OXCT2P1 ENSG00000259943 HEYL ENSG00000225903 PABPC4 NT5C1A PPIE HPCAL4 GC01M039576
GH01J039605 Enhancer 0.9 Ensembl ENCODE 12.3 +33.9 33855 1 GTF2F1 CTCF ATF1 RB1 RAD21 FOSL1 ZNF335 CC2D1A FOXK2 ARID2 HEYL ENSG00000225903 PABPC4 NT5C1A GC01M039576
GH01J039979 Enhancer 1.2 Ensembl ENCODE dbSUPER 8.7 -341.0 -340973 3.6 HDAC1 PKNOX1 SCRT2 ZFP91 FOS ETV6 BCLAF1 GATAD2B ZEB2 ELF1 CAP1 MYCL LOC105378668 TRIT1 ENSG00000202222 PABPC4 HEYL ENSG00000225903 PPT1 ZFP69
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HEYL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HEYL gene promoter:
  • AREB6
  • SRF (504 AA)
  • SRF
  • E47
  • Tal-1
  • CREB
  • deltaCREB
  • LCR-F1
  • Tal-1beta

Genomic Locations for HEYL Gene

Genomic Locations for HEYL Gene
chr1:39,623,431-39,639,945
(GRCh38/hg38)
Size:
16,515 bases
Orientation:
Minus strand
chr1:40,089,103-40,105,617
(GRCh37/hg19)
Size:
16,515 bases
Orientation:
Minus strand

Genomic View for HEYL Gene

Genes around HEYL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HEYL Gene

Proteins for HEYL Gene

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

    Protein Symbol:
    Q9NQ87-HEYL_HUMAN
    Recommended name:
    Hairy/enhancer-of-split related with YRPW motif-like protein
    Protein Accession:
    Q9NQ87
    Secondary Accessions:
    • Q5TG99

    Protein attributes for HEYL Gene

    Size:
    328 amino acids
    Molecular mass:
    35087 Da
    Quaternary structure:
    • Self-associates. Interacts with GATA4, GATA6, HES1, HEY1 and HEY2. Interacts with HDAC1, NCOR1 and SIN3A.

neXtProt entry for HEYL Gene

Post-translational modifications for HEYL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HEYL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HEYL Gene

Domains & Families for HEYL Gene

Gene Families for HEYL Gene

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

Protein Domains for HEYL Gene

Suggested Antigen Peptide Sequences for HEYL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NQ87

UniProtKB/Swiss-Prot:

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

Function for HEYL Gene

Molecular function for HEYL Gene

UniProtKB/Swiss-Prot Function:
Downstream effector of Notch signaling which may be required for cardiovascular development (By similarity). Transcriptional repressor which binds preferentially to the canonical E box sequence 5-CACGTG-3 (By similarity). Represses transcription by the cardiac transcriptional activators GATA4 and GATA6.
UniProtKB/Swiss-Prot Induction:
By activation of the Notch signaling pathway.

Phenotypes From GWAS Catalog for HEYL Gene

Gene Ontology (GO) - Molecular Function for HEYL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding ISS,IEA --
GO:0000989 transcription factor activity, transcription factor binding IDA 21290414
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with HEYL: view
genes like me logo Genes that share phenotypes with HEYL: view

Animal Models for HEYL Gene

MGI Knock Outs for HEYL:
  • Heyl Heyl<tm1Gess>
  • Heyl Heyl<tm1b(KOMP)Wtsi>
  • Heyl Heyl<tm1.2Abmu>
  • Heyl Heyl<tm1Kkb>

Animal Model Products

miRNA for HEYL Gene

miRTarBase miRNAs that target HEYL

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HEYL Gene

Localization for HEYL Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEYL 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 HEYL gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HEYL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 21454491
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,ISS --
genes like me logo Genes that share ontologies with HEYL: view

Pathways & Interactions for HEYL Gene

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

SIGNOR curated interactions for HEYL Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HEYL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0003151 outflow tract morphogenesis IEA,ISS --
GO:0003181 atrioventricular valve morphogenesis IEA,ISS --
GO:0003184 pulmonary valve morphogenesis IEA,ISS --
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation IEA,ISS --
genes like me logo Genes that share ontologies with HEYL: view

Drugs & Compounds for HEYL Gene

No Compound Related Data Available

Transcripts for HEYL Gene

mRNA/cDNA for HEYL Gene

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

Unigene Clusters for HEYL Gene

Hairy/enhancer-of-split related with YRPW motif-like:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for HEYL Gene

GeneLoc Exon Structure for
HEYL
ECgene alternative splicing isoforms for
HEYL

Expression for HEYL Gene

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

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

This gene is overexpressed in Artery - Coronary (x6.7), Artery - Tibial (x4.2), and Pancreas (x4.0).

Protein differential expression in normal tissues from HIPED for HEYL Gene

This gene is overexpressed in Islet of Langerhans (69.0).

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



Protein tissue co-expression partners for HEYL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HEYL Gene:

HEYL

SOURCE GeneReport for Unigene cluster for HEYL Gene:

Hs.472566

Evidence on tissue expression from TISSUES for HEYL Gene

  • Muscle(4.4)
  • Eye(2.6)
genes like me logo Genes that share expression patterns with HEYL: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEYL Gene

Orthologs for HEYL Gene

This gene was present in the common ancestor of animals.

Orthologs for HEYL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEYL 34 33
  • 99.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HEYL 33
  • 88.45 (n)
cow
(Bos Taurus)
Mammalia HEYL 34 33
  • 86.89 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Heyl 16 34 33
  • 82 (n)
rat
(Rattus norvegicus)
Mammalia Heyl 33
  • 81.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HEYL 34
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HEYL 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEYL 34 33
  • 66.88 (n)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii heyl 34 33
  • 59.13 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hey 34 35
  • 26 (a)
OneToMany
Species where no ortholog for HEYL 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)
  • lizard (Anolis carolinensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HEYL Gene

ENSEMBL:
Gene Tree for HEYL (if available)
TreeFam:
Gene Tree for HEYL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HEYL: view image

Paralogs for HEYL Gene

Paralogs for HEYL Gene

(6) SIMAP similar genes for HEYL Gene using alignment to 2 proteins:

  • HEYL_HUMAN
  • F5H3V9_HUMAN
genes like me logo Genes that share paralogs with HEYL: view

Variants for HEYL Gene

Sequence variations from dbSNP and Humsavar for HEYL Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000031229 -- 39,634,341(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000139009 -- 39,641,668(-) T/G upstream_transcript_variant
rs1000142660 -- 39,631,787(-) A/T intron_variant
rs1000416735 -- 39,638,535(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000425551 -- 39,631,950(-) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
esv3367103 CNV duplication 20981092
nsv1116447 OTHER inversion 24896259
nsv566 CNV insertion 18451855
nsv7177 OTHER inversion 18451855
nsv829649 CNV loss 17160897

Variation tolerance for HEYL Gene

Residual Variation Intolerance Score: 78.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HEYL Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HEYL Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cerebellopontine angle meningioma
  • meningioma of the cerebellar pontine angle
cerebellopontine angle tumor
  • neoplasm of the cerebellopontine angle
- elite association - COSMIC cancer census association via MalaCards
Search HEYL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HEYL

genes like me logo Genes that share disorders with HEYL: view

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

Publications for HEYL Gene

  1. Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family. (PMID: 10860664) Steidl C … Gessler M (Genomics 2000) 2 3 4 22 58
  2. Hairy-related transcription factors inhibit GATA-dependent cardiac gene expression through a signal-responsive mechanism. (PMID: 15485867) Kathiriya IS … Nakagawa O (The Journal of biological chemistry 2004) 3 4 58
  3. Comparative analysis of the human and mouse Hey1 promoter: Hey genes are new Notch target genes. (PMID: 10964718) Maier MM … Gessler M (Biochemical and biophysical research communications 2000) 3 4 58
  4. Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of Notch signaling. (PMID: 11095750) Nakagawa O … Olson EN (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 58
  5. Hey genes: a novel subfamily of hairy- and Enhancer of split related genes specifically expressed during mouse embryogenesis. (PMID: 10415358) Leimeister C … Gessler M (Mechanisms of development 1999) 2 3 58

Products for HEYL Gene

Sources for HEYL Gene

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