Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8553
Gene name Gene Name - the full gene name approved by the HGNC.
Basic helix-loop-helix family member e40
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BHLHE40
Synonyms (NCBI Gene) Gene synonyms aliases
BHLHB2, Clast5, DEC1, HLHB2, SHARP-2, SHARP2, STRA13, Stra14
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p26.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL`s transactivation of PER1. This gene is believe
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018020 hsa-miR-335-5p Microarray 18185580
MIRT039240 hsa-miR-454-3p CLASH 23622248
MIRT036578 hsa-miR-941 CLASH 23622248
MIRT608450 hsa-miR-8485 HITS-CLIP 19536157
MIRT608449 hsa-miR-329-3p HITS-CLIP 19536157
Transcription factors
Transcription factor Regulation Reference
ARNT Unknown 12354771
ARNTL Activation 19032342
CLOCK Activation 19032342
NR1H3 Activation 19032342
VDR Unknown 23220548
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 IDA 12397359, 12624110, 14672706, 15193144
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 12397359
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604256 1046 ENSG00000134107
Protein
UniProt ID O14503
Protein name Class E basic helix-loop-helix protein 40 (bHLHe40) (Class B basic helix-loop-helix protein 2) (bHLHb2) (Differentially expressed in chondrocytes protein 1) (DEC1) (Enhancer-of-split and hairy-related protein 2) (SHARP-2) (Stimulated by retinoic acid gene
Protein function Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes (PubMed:12397359, PubMed:18411297). Acts as the negative limb of a novel autoregulat
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 53 108 Helix-loop-helix DNA-binding domain Domain
PF07527 Hairy_orange 141 180 Hairy Orange Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in cartilage, spleen, intestine, lung, and to a lesser extent in heart, brain, liver, muscle and stomach.
Sequence
MERIPSAQPPPACLPKAPGLEHGDLPGMYPAHMYQVYKSRRGIKRSEDSKETYKLPHRLI
EKKRRDRINECIAQLKDLLPEHLKLTTLGHLEKAVVLELTLKHVKALT
NLIDQQQQKIIA
LQSGLQAGELSGRNVETGQEMFCSGFQTCAREVLQYLAKHENTRDLKSSQLVTHLHRVVS
ELLQGGTSRKPSDPAPKVMDFKEKPSSPAKGSEGPGKNCVPVIQRTFAHSSGEQSGSDTD
TDSGYGGESEKGDLRSEQPCFKSDHGRRFTMGERIGAIKQESEEPPTKKNRMQLSDDEGH
FTSSDLISSPFLGPHPHQPPFCLPFYLIPPSATAYLPMLEKCWYPTSVPVLYPGLNASAA
ALSSFMNPDKISAPLLMPQRLPSPLPAHPSVDSSVLLQALKPIPPLNLETKD
Sequence length 412
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Circadian rhythm  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Advanced sleep phase syndrome Advanced Sleep Phase Syndrome rs121908635, rs104894561, rs397514693, rs1559332542 25395965
Glioblastoma Glioblastoma, Glioblastoma Multiforme rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888 23582323
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912
View all (22 more)
30595370
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
20691775
Unknown
Disease term Disease name Evidence References Source
Delayed sleep phase syndrome Delayed Sleep Phase Syndrome 25395965 ClinVar
Multiple Sclerosis Multiple Sclerosis GWAS
Psoriasis vulgaris Psoriasis vulgaris GWAS
Dermatitis Dermatitis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acute Kidney Injury Associate 37026010
Adenocarcinoma Associate 22491060, 23478628
Arthritis Juvenile Associate 33296081
Bipolar Disorder Associate 18228528
Breast Neoplasms Associate 15328513, 31907974, 34215221, 36931039, 39201344
Calcinosis Associate 36194366
Carcinogenesis Associate 37026212
Carcinoma Hepatocellular Associate 34045534
Carcinoma Intraductal Noninfiltrating Associate 31907974
Carcinoma Non Small Cell Lung Associate 23423709