Gene Gene information from NCBI Gene database.
Entrez ID 26508
Gene name Hes related family bHLH transcription factor with YRPW motif like
Gene symbol HEYL
Synonyms (NCBI Gene)
HESR3HEY3HRT3bHLHb33
Chromosome 1
Chromosome location 1p34.2
Summary 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 diverg
miRNA miRNA information provided by mirtarbase database.
323
miRTarBase ID miRNA Experiments Reference
MIRT038777 hsa-miR-93-3p CLASH 23622248
MIRT671673 hsa-miR-1304-3p HITS-CLIP 23824327
MIRT671672 hsa-miR-3655 HITS-CLIP 23824327
MIRT671671 hsa-miR-6499-3p HITS-CLIP 23824327
MIRT671670 hsa-miR-3135b HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
67
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609034 4882 ENSG00000163909
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQ87
Protein name Hairy/enhancer-of-split related with YRPW motif-like protein (hHeyL) (Class B basic helix-loop-helix protein 33) (bHLHb33) (Hairy-related transcription factor 3) (HRT-3) (hHRT3)
Protein 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 transcripti
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 44 99 Helix-loop-helix DNA-binding domain Domain
PF07527 Hairy_orange 116 158 Hairy Orange Domain
Sequence
MKRPKEPSGSDGESDGPIDVGQEGQLSQMARPLSTPSSSQMQARKKHRGIIEKRRRDRIN
SSLSELRRLVPTAFEKQGSSKLEKAEVLQMTVDHLKMLH
ATGGTGFFDARALAVDFRSIG
FRECLTEVIRYLGVLEGPSSRADPVRIRLLSHLNSYAA
EMEPSPTPTGPLAFPAWPWSFF
HSCPGLPALSNQLAILGRVPSPVLPGVSSPAYPIPALRTAPLRRATGIILPARRNVLPSR
GASSTRRARPLERPATPVPVAPSSRAARSSHIAPLLQSSSPTPPGPTGSAAYVAVPTPNS
SSPGPAGRPAGAMLYHSWVSEITEIGAF
Sequence length 328
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Notch signaling pathway
Human papillomavirus infection
Pathways in cancer
Breast cancer
  Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH3 Intracellular Domain Regulates Transcription
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma CTD_human_DG 21036696
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30588893
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 38025763 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 31796022
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 32957968 Associate
★☆☆☆☆
Found in Text Mining only
Cough Cough Pubtator 35655915 Associate
★☆☆☆☆
Found in Text Mining only
Glaucoma Glaucoma BEFREE 27743158, 29944673
★☆☆☆☆
Found in Text Mining only
Glaucoma, Primary Open Angle Glaucoma BEFREE 27487343
★☆☆☆☆
Found in Text Mining only
Glaucoma, Suspect Glaucoma BEFREE 27480527
★☆☆☆☆
Found in Text Mining only
Heart Septal Defects Ventricular Congenital heart septal defect Pubtator 30897084 Associate
★☆☆☆☆
Found in Text Mining only