BHLHE41 basic helix-loop-helix family member e41 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BHLHE41provided by HGNC
Official Full Name: basic helix-loop-helix family member e41provided by HGNC
Primary source: HGNC:HGNC:16617
See related: Ensembl:ENSG00000123095 MIM:606200; AllianceGenome:HGNC:16617
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DEC2; FNSS1; hDEC2; BHLHB3; SHARP1
Summary: 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 believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]
Expression: Broad expression in thyroid (RPKM 31.2), brain (RPKM 21.3) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p12.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (26120030..26125037, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (25992585..25998690, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (26272963..26277970, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Approach to Functions of BHLHE41/DEC2 in Non-Small Lung Cancer Development.
Title: Approach to Functions of BHLHE41/DEC2 in Non-Small Lung Cancer Development.
Inhibition of DEC2 is necessary for exiting cell dormancy in salivary adenoid cystic carcinoma.
Title: Inhibition of DEC2 is necessary for exiting cell dormancy in salivary adenoid cystic carcinoma.
BHLHE41/DEC2 Expression Induces Autophagic Cell Death in Lung Cancer Cells and Is Associated with Favorable Prognosis for Patients with Lung Adenocarcinoma.
Title: BHLHE41/DEC2 Expression Induces Autophagic Cell Death in Lung Cancer Cells and Is Associated with Favorable Prognosis for Patients with Lung Adenocarcinoma.
TFEB Transcriptional Responses Reveal Negative Feedback by BHLHE40 and BHLHE41.
Title: TFEB Transcriptional Responses Reveal Negative Feedback by BHLHE40 and BHLHE41.
The Potential Roles of Dec1 and Dec2 in Periodontal Inflammation.
Title: The Potential Roles of Dec1 and Dec2 in Periodontal Inflammation.
DEC2 Serves as Potential Tumor Suppressor in Breast Carcinoma.
Title: DEC2 Serves as Potential Tumor Suppressor in Breast Carcinoma.
BHLHE41 suppresses MCF-7 cell invasion via MAPK/JNK pathway.
Title: BHLHE41 suppresses MCF-7 cell invasion via MAPK/JNK pathway.
ARID1A-dependent permissive chromatin accessibility licenses estrogen-receptor signaling to regulate circadian rhythms genes in endometrial cancer.
Title: ARID1A-dependent permissive chromatin accessibility licenses estrogen-receptor signaling to regulate circadian rhythms genes in endometrial cancer.
MicroRNA-301a inhibits the progression of osteosarcoma by regulating DEC2.
Title: MicroRNA-301a inhibits the progression of osteosarcoma by regulating DEC2.
The expression of BHLHE41 in clear cell renal cell carcinoma (ccRCC) was significantly increased in microarray datasets, RNA sequencing data, and in fresh ccRCC tissue samples, compared with than their adjacent nontumorous controls. BHLHE41 knockdown reduced cell proliferation and migration of A498 and CAKI1 cells. These observations demonstrated that BHLHE41 could be a biomarker and an oncogene for ccRCC.
Title: Overexpression of BHLHE41, correlated with DNA hypomethylation in 3'UTR region, promotes the growth of human clear cell renal cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (49)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Short sleep, familial natural, 1 MedGen: C5200932 OMIM: 612975 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80435 (e-PCR)
- UniSTS:86827

BHLHB3_2085 (e-PCR)
- UniSTS:280461

RH103397 (e-PCR)
- UniSTS:97723

STS-R68240 (e-PCR)
- UniSTS:4824

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables E-box binding	ISS Inferred from Sequence or Structural Similarity more info
enables MRF binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables bHLH transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables bHLH transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables histone deacetylase binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anterior/posterior pattern specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in circadian regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of myotube differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by competitive promoter binding	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: class E basic helix-loop-helix protein 41

Names: basic helix-loop-helix domain containing, class B, 3; differentially expressed in chondrocytes protein 2; enhancer-of-split and hairy-related protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_021173.1 RefSeqGene

Range

5034..10041

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_030762.3 → NP_110389.1 class E basic helix-loop-helix protein 41

See identical proteins and their annotated locations for NP_110389.1

Status: REVIEWED

Source sequence(s)

AB044088, AW500664, BC025968

Consensus CDS

CCDS8706.1

UniProtKB/Swiss-Prot

A2I2N8, Q9C0J9

Related

ENSP00000242728.4, ENST00000242728.5

Conserved Domains (2) summary

smart00511
Location:129 → 175

ORANGE; Orange domain

cd19750
Location:31 → 122

bHLH-O_DEC2; basic helix-loop-helix-orange (bHLH-O) domain found in differentially expressed in chondrocytes protein 2 (DEC2) and similar proteins