Hs01248128_cn

• Gene Symbol: BHLHE41
• Assay Reference Genome Location: Chr.12:26120884 on build GRCh38
• Cytoband: 12p12.1

Target Gene Details

• Entrez Gene ID: 79365
• Gene Name: basic helix-loop-helix family member e41
• Gene Aliases: BHLHB3, DEC2, SHARP1, hDEC2
• Location: Chr.12:26120026-26125070 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BHLHE41	NM_030762.2	5	2922	NP_110389.1
	AB044088.1	5	2765	BAB21502.1
	AY665466.1	1	2456	AAV54601.1
	AY665467.1	5	2732	AAV54602.1
	BC025968.1	5	2922	AAH25968.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3581126	Chr.12:26119891 - 26132037 on Build GRCh38	Gain	SSPN BHLHE41

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
transcription, DNA-templated
cell proliferation
organ morphogenesis
negative regulation of myotube differentiation
negative regulation of transcription by competitive promoter binding
cell differentiation
circadian regulation of gene expression
negative regulation of transcription, DNA-templated

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II activating transcription factor binding
transcriptional repressor activity, RNA polymerase II transcription factor binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
transcription corepressor activity
protein binding
protein homodimerization activity
histone deacetylase binding
bHLH transcription factor binding
MRF binding
protein heterodimerization activity
E-box binding