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Set Analyses:

VarElect

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HEYL Gene

protein-coding GIFtS: 58
GCID: GC01M040119

Hes-Related Family BHLH Transcription Factor With YRPW Motif-Like

(Previous name: hairy/enhancer-of-split related with YRPW motif-like)

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Hes-Related Family BHLH Transcription Factor With YRPW Motif-Like¹ ²		hHeyL² ³
Hairy/Enhancer-Of-Split Related With YRPW Motif 3¹ ²		Hairy/Enhancer-Of-Split Related With YRPW Motif-Like¹
Class B Basic Helix-Loop-Helix Protein 33² ³		HESR3²
Hairy-Related Transcription Factor 3² ³		HEY3²
HRT-3² ³		Hairy/Enhancer-Of-Split Related With YRPW Motif-Like Protein²
HRT3² ³		HEY-Like Protein²
bHLHb33² ³		BHLHB33³
hHRT3² ³

External Ids:	HGNC: 4882¹	Entrez Gene: 26508²	Ensembl: ENSG00000163909⁷	OMIM: 609034⁵	UniProtKB: Q9NQ87³

Export aliases for HEYL gene to outside databases

Previous GC identifers: GC01M039093 GC01M039553 GC01M039503 GC01M039492 GC01M039741 GC01M039862 GC01M038207

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 glaucoma, and neuronitis. GO annotations related to this gene include protein heterodimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is HEY1.

UniProtKB/Swiss-Prot: HEYL_HUMAN, Q9NQ87

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

Gene Wiki entry for HEYL Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000001.11 NT_032977.10 NC_018912.2

Regulatory elements:

Regulatory transcription factor binding sites in the HEYL gene promoter:
SRF Tal-1 SRF (504 AA) Tal-1beta LCR-F1 E47 AREB6 CREB deltaCREB
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HEYL promoter sequence

Search Chromatin IP Primers for HEYL

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HEYL

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34.3 Ensembl cytogenetic band: 1p34.2 HGNC cytogenetic band: 1p34.3

HEYL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HEYL gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M040119: view genomic region (about GC identifiers)

Start:	40,089,103 bp from pter	End:	40,105,617 bp from pter
Size:	16,515 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HEYL_HUMAN, Q9NQ87 (See protein sequence)

Recommended Name: Hairy/enhancer-of-split related with YRPW motif-like protein

Size: 328 amino acids; 35087 Da

Subunit: Self-associates (By similarity). Interacts with GATA4, GATA6, HES1, HEY1 and HEY2 (By similarity).

Interacts with HDAC1, NCOR1 and SIN3A (By similarity)

Secondary accessions: Q5TG99

Explore the universe of human proteins at neXtProt for HEYL: NX_Q9NQ87

Explore proteomics data for HEYL at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See HEYL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_055386.1

ENSEMBL proteins:

ENSP00000361943 ENSP00000439071

Reactome Protein details: Q9NQ87

HEYL Human Recombinant Protein Products:

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	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate for HEYL OriGene Custom MassSpec OriGene Custom Protein Services for HEYL
	GenScript Custom Purified and Recombinant Proteins Services for HEYL
	Novus Biologicals HEYL Proteins Novus Biologicals HEYL Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
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HEYL Antibody Products:

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	Novus Biologicals HEYL Antibodies
	Abcam antibodies for HEYL
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	ThermoFisher Antibodies for HEYL
	LSBio Antibodies in human, mouse, rat for HEYL

HEYL Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for HEYL
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for HEYL Cloud-Clone Corp. CLIAs for HEYL

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

bHLH: Basic helix-loop-helix proteins

3 InterPro protein domains:

IPR018352 Orange_subgr

IPR003650 Orange

IPR011598 bHLH_dom

Graphical View of Domain Structure for InterPro Entry Q9NQ87

ProtoNet protein and cluster: Q9NQ87

2 Blocks protein domains:

IPB001092 Basic helix-loop-helix dimerization domain bHLH

IPB003650 Orange

UniProtKB/Swiss-Prot: HEYL_HUMAN, Q9NQ87

Similarity: Belongs to the HEY family

Similarity: Contains 1 bHLH (basic helix-loop-helix) domain

Similarity: Contains 1 Orange domain

HEYL for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: HEYL_HUMAN, Q9NQ87

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

Induction: By activation of the Notch signaling pathway

Gene Ontology (GO): 16 molecular function terms (see first 5): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	IEA	--
GO:0000983	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity	ISS	--
GO:0000988	protein binding transcription factor activity	IDA	--
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	IEA	--
GO:0001106	RNA polymerase II transcription corepressor activity	IEA	--
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IDA	15485867
GO:0003714	transcription corepressor activity	IDA	--
GO:0005515	protein binding	IPI	15485867
GO:0008134	transcription factor binding	NAS	17611704
GO:0035939	microsatellite binding	IDA	--
GO:0042803	protein homodimerization activity	IEA	--
GO:0043565	sequence-specific DNA binding	--	--
GO:0046982	protein heterodimerization activity	IDA	--
GO:0046983	protein dimerization activity	--	--
GO:0050683	AF-1 domain binding	IPI	--

HEYL for ontologies About GeneDecksing

Phenotypes:
8 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Heyl):

cardiovascular system	cellular	growth/size/body	mortality/aging	muscle
nervous system	no phenotypic analysis	normal

HEYL for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for HEYL: Heyl^tm1.2Abmu Heyl^tm1Kkb

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HEYL

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HEYL

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HEYL

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HEYL

miRNA Products:		miRTarBase miRNAs that target HEYL: hsa-mir-93-3p (MIRT038777)

		Block miRNA regulation of human, mouse, rat HEYL using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate HEYL (see all 34):
		hsa-miR-330-5p hsa-miR-29a hsa-miR-765 hsa-miR-3921 hsa-miR-4314 hsa-miR-1276 hsa-miR-4274 hsa-miR-508-5p

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for HEYL
		Predesigned siRNA for gene silencing in human, mouse, rat HEYL

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for HEYL

Clone Products:		OriGene clones in human, mouse for HEYL (see all 6) OriGene ORF clones in mouse, rat for HEYL OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: HEYL (NM_014571)
		Sino Biological Human cDNA Clone for HEYL
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEYL
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEYL

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HEYL
		ESI BIO PureStem Progenitor for HEYL: PureStem ES-210, Ecto-ntu Progenitor

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEYL

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

HEYL_HUMAN, Q9NQ87: Nucleus (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	4

About this image

Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005737	cytoplasm	ISS	--

HEYL for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for HEYL About

See pathways by source

SuperPath

Selected contained pathways About (see all per SuperPath)

Signaling by NOTCH1 PEST Domain Mutants in Cancer

Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	0.79	Constitutive Signaling by NOTCH1 PEST Domain Mutants	0.79
Signaling by NOTCH1 PEST Domain Mutants in Cancer	0.79	Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant	0.79
Signaling by NOTCH1 in Cancer	0.79	FBXW7 Mutants and NOTCH1 in Cancer	0.79
Signaling by NOTCH1	0.79	NOTCH1 Intracellular Domain Regulates Transcription	0.68

Signaling by GPCR

Signal Transduction

0.58

Disease

Disease

Pathways by source See SuperPaths
Show all pathways

3 Reactome Pathways for HEYL

	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
	NOTCH1 Intracellular Domain Regulates Transcription
	Constitutive Signaling by NOTCH1 PEST Domain Mutants

HEYL for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Arrays including HEYL:

Notch Signaling Targets in human mouse rat

Neurogenesis in human mouse rat

Signal Transduction PathwayFinder in human mouse rat

Notch Signaling Pathway in human mouse rat

Interactions:

Search GeneGlobe Interaction Network for HEYL

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

Selected Interacting proteins for HEYL (Q9NQ87^{2, 3} ENSP00000361943⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RBPMS	Q93062²^,³, ENSP00000340176⁴	MINT-68017 I2D: score=5 STRING: ENSP00000340176
SMAD3	P84022²^,³, ENSP00000332973⁴	MINT-61698 I2D: score=3 STRING: ENSP00000332973
SMAD7	O15105²^,³, ENSP00000262158⁴	MINT-61810 I2D: score=3 STRING: ENSP00000262158
ATF7IP	Q6VMQ6²^,³	MINT-61887 I2D: score=3
LAPTM5	Q13571²^,³	MINT-62169 I2D: score=3

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Gene Ontology (GO): Selected biological process terms (see all 23): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	--	--
GO:0003151	outflow tract morphogenesis	ISS	--
GO:0003181	atrioventricular valve morphogenesis	ISS	--
GO:0003184	pulmonary valve morphogenesis	ISS	--
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	ISS	--

HEYL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for HEYL

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for HEYL gene:

NM_014571.3

Unigene Cluster for HEYL:

Hairy/enhancer-of-split related with YRPW motif-like

Hs.472566 [show with all ESTs]

Unigene Representative Sequence: NM_014571

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000372852(uc010oiw.2 uc001cdp.3) ENST00000535435

miRNA Products:		Block miRNA regulation of human, mouse, rat HEYL using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate HEYL (see all 34):
		hsa-miR-330-5p hsa-miR-29a hsa-miR-765 hsa-miR-3921 hsa-miR-4314 hsa-miR-1276 hsa-miR-4274 hsa-miR-508-5p

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for HEYL
		Predesigned siRNA for gene silencing in human, mouse, rat HEYL

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		GenScript: all cDNA clones in your preferred vector: HEYL (NM_014571)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEYL
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEYL

Primer Products:		OriGene qPCR primer pairs and template standards for HEYL OriGene qSTAR qPCR primer pairs in human, mouse for HEYL
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat HEYL
		QuantiTect SYBR Green Assays in human, mouse, rat HEYL
		QuantiFast Probe-based Assays in human, mouse, rat HEYL

Additional mRNA sequence:

AF311885.1 AJ272215.1 AK300463.1 BC006087.1

6 DOTS entries:

DT.410891 DT.121407082 DT.100710319 DT.100732082 DT.100751632 DT.92450621

Selected AceView cDNA sequences (see all 139):

AI674102 AA935671 AA009821 AA916553 AI570320 BM693247 AL040198 BQ027529

CK819944 BU785900 AA973148 AJ272215 CD518041 CD246075 AA453276 NM_014571

AI417209 BE205999 AA969508 R74338 BM354043 BC006087 BF435697 AA861456

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HEYL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GGTTGTTGCG

About this image

HEYL expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 7) fully expand


Bone (Muscoskeletal System) fully expand to see all 6 entries
Bone Marrow
TGFbeta3+BMP7-induced chondrocytes

Epithelial Cells
Fetal Medulla Cells Hair Shaft

Hair (Integumentary System) fully expand to see all 5 entries
Fetal Medulla Cells Hair Shaft

Kidney (Urinary System) fully expand to see all 3 entries
Metanephros

Cartilage (Muscoskeletal System) fully expand to see all 3 entries
TGFbeta3+BMP7-induced chondrocytes

HEYL Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

HEYL Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.472566

Pathway & Disease-focused RT² Profiler PCR Arrays including HEYL:

Notch Signaling Targets in human mouse rat

Neurogenesis in human mouse rat

Signal Transduction PathwayFinder in human mouse rat

Notch Signaling Pathway in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for HEYL OriGene qSTAR qPCR primer pairs in human, mouse for HEYL
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat HEYL
		QuantiTect SYBR Green Assays in human, mouse, rat HEYL
		QuantiFast Probe-based Assays in human, mouse, rat HEYL

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEYL

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for HEYL gene from Selected species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Heyl^{1 , 5}	hairy/enhancer-of-split related with YRPW motif-like^{1, 5}	82(n)¹ 78.53(a)¹	4 (57.41 cM)⁵ 56198¹ NM_013905.3¹ NP_038933.2¹ 123233556⁵
chicken (Gallus gallus)	Aves	HEYL¹	hairy/enhancer-of-split related with YRPW motif-like	66.88(n) 63.55(a)	771101 XM_001234405.3 XP_001234406.2
zebrafish (Danio rerio)	Actinopterygii	heyl¹	hairy/enhancer-of-split related with YRPW motif-like	59.13(n) 58.7(a)	335134 NM_181736.1 NP_859425.1
fruit fly (Drosophila melanogaster)	Insecta	Hey³	transcription factor	57(a)	44A2 --

ENSEMBL Gene Tree for HEYL (if available)
TreeFam Gene Tree for HEYL (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for HEYL gene

HEY1² HELT² HEY2²

6 SIMAP similar genes for HEYL using alignment to 2 protein entries: HEYL_HUMAN (see all proteins):

HEY1 OAF1 HEY2 HES4 HES5 HELT

HEYL for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs77962326^1,2	C,F	--	40088630(+)	`TACCCG/TCTTGA`	1	--	ds500¹		1		EA	120
rs189434277^1,2		--	40088659(+)	`ATACCC/TCAACT`	1	--	ds500¹		0	--	--	--	--
rs115202853^1,2	C,F	--	40088731(+)	`ATGGAA/GGGTGT`	1	--	ds500¹		0	--	--	--	--
rs185757676^1,2		--	40088743(+)	`CCCCCA/CACTCA`	1	--	ds500¹		0	--	--	--	--
rs12029569^1,2	C,F,A,H	--	40088816(+)	`GTGTTC/AGTTGG`	1	--	ds500¹		12		NS EA NA	1494
rs75189707^1,2	F	--	40088817(+)	`TGTTCG/ATTGGA`	1	--	ds500¹		1		NA	120
rs189693750^1,2		--	40089155(+)	`AGGCCC/TTGTGC`	1	--	ut3¹		0	--	--	--	--
rs12022423^1,2	C,A	--	40089370(+)	`GCAACG/TTTGAA`	1	--	ut3¹		3		NA EA	124
rs114297514^1,2	C,F	--	40089408(+)	`AGCCAT/GGCACA`	1	--	ut3¹		1		WA	118
rs116401702^1,2	C,F	--	40089425(+)	`GGGAAG/TAGCAT`	1	--	ut3¹		1		NA	120

HapMap Linkage Disequilibrium report for HEYL (40089103 - 40105617 bp)

Structural Variations
Database of Genomic Variants (DGV) 3 variations for HEYL: About this table

Variant ID	Type	Subtype	PubMed ID
nsv566	CNV	Insertion	18451855
nsv829649	CNV	Loss	17160897
nsv7177	OTHER	Inversion	18451855

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing HEYL

DNA2.0 Custom Variant and Variant Library Synthesis for HEYL

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 609034 OMIM disorders: --

3 diseases for HEYL:
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glaucoma neuronitis endotheliitis

1 disease from the University of Copenhagen DISEASES database for HEYL:

Glaucoma

HEYL for disorders About GeneDecksing

Export disorders for HEYL gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for HEYL gene, integrated from 10 sources (see all 22):
(articles sorted by number of sources associating them with HEYL)

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Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family. (PubMed id 10860664)^{1, 2, 3, 9} Steidl C.... Gessler M. (Genomics 2000)
Hairy-related transcription factors inhibit GATA-dependent cardiac gene expression through a signal-responsive mechanism. (PubMed id 15485867)^{1, 2} Kathiriya I.S.... Nakagawa O. (J. Biol. Chem. 2004)
Comparative analysis of the human and mouse Hey1 promoter: Hey genes are new Notch target genes. (PubMed id 10964718)^{1, 2} Maier M.M. and Gessler M. (Biochem. Biophys. Res. Commun. 2000)
Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of Notch signaling. (PubMed id 11095750)^{1, 2} Nakagawa O.... Olson E.N. (Proc. Natl. Acad. Sci. U.S.A. 2000)
Hey genes: a novel subfamily of hairy- and enhancer of split related genes specifically expressed during mouse embryogenesis. (PubMed id 10415358)^{1, 3} Leimeister C.... Gessler M. (Mech. Dev. 1999)
Development and application of a DNA microarray-based yeast two-hybrid system. (PubMed id 23275563)¹ Suter B....Wanker E.E. (Nucleic Acids Res. 2013)
Seventy-five genetic loci influencing the human red blood cell. (PubMed id 23222517)¹ van der Harst P....Chambers J.C. (Nature 2012)
Differential effects of the HESR/HEY transcription factor family on dopamine transporter reporter gene expression via variable number of tandem repeats. (PubMed id 21290414)¹ Kanno K. and Ishiura S. (J. Neurosci. Res. 2011)
Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (Mol. Cell 2011)
Repression of androgen receptor activity by HEYL, a third member of the Hairy/Enhancer-of-split-related family of Notch effectors. (PubMed id 21454491)¹ Lavery D.N....Bevan C.L. (J. Biol. Chem. 2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 26508	HGNC: 4882	AceView: HEYL	Ensembl:ENSG00000163909	euGenes: HUgn26508
ECgene: HEYL	H-InvDB: HEYL

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for HEYL	Pharmacogenomics, SNPs, Pathways

Intellectual Property for HEYL gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for HEYL gene:
Search GeneIP for patents involving HEYL

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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HEYL Gene

Hes-Related Family BHLH Transcription Factor With YRPW Motif-Like

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HEYL Gene

Hes-Related Family BHLH Transcription Factor With YRPW Motif-Like

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