Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26508
Gene name Gene Name - the full gene name approved by the HGNC.
Hes related family bHLH transcription factor with YRPW motif like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HEYL
Synonyms (NCBI Gene) Gene synonyms aliases
HESR3, HEY3, HRT3, bHLHb33
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.2
Summary Summary of gene provided in NCBI Entrez 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 diverg
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IDA 21290414
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609034 4882 ENSG00000163909
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
21036696
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
21036696
Marfan syndrome Mammary Carcinoma, Human rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465
View all (942 more)
21036696
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS
Alzheimer disease Alzheimer disease GWAS
Myocardial Infarction Myocardial Infarction GWAS
Associations from Text Mining
Disease Name Relationship Type References
Ageusia Associate 35655915
Colonic Neoplasms Associate 38025763
Colorectal Neoplasms Associate 32957968
Cough Associate 35655915
COVID 19 Associate 35655915
Fever Associate 35655915
Heart Septal Defects Ventricular Associate 30897084
Neoplasms Associate 32463580
Olfaction Disorders Associate 35655915
Pneumonia Associate 35655915