Gene Report

Basic Info
Approved Symbol BHLHE41
Previous Symbol BHLHB3
Symbol Alias DEC2, SHARP-1, SHARP1, bHLHe41
Approved Name basic helix-loop-helix family, member e41
Previous Name basic helix-loop-helix domain containing, class B, 3
Name Alias differentially expressed in chondrocytes 2, "Enhancer-of-split and hairy-related protein 1"
Location 12p12.1
Position chr12:26120026-26125127, -1
External Links HGNC: 16617
Entrez Gene: 79365
Ensembl: ENSG00000123095
UCSC: uc001rhb.3
No. of Studies 3 (Positive: 2; Negative: 1; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 3)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Byrne, E. M., 2014 P-value=0.03. The evidence for a role for common risk variants in circadian genes is slightly stronger for BPD, with two genes—BHLHB3 and DBP1—showing nominal significance for the gene-based test and nine genes harboring a SNP with a P-value <0.01. Positive Comment on Study
Soria, V.,2010 SNP: rs4963954 Significant associations of BHLHE41 gene were found in BPD patients. Positive Comment on Study
Mansour, H. A.,2009 Gene-based tests:X<sup>2</sup>=0.786, P-value = 0.708 in additive model, X<sup>2</sup>=0.86, P-value = 0.717 in dominant model, X<sup>2</sup>=0.471, P-value = 0.868 in recessive model in BPI. No significant association was observed using neither single SNP-based analyses nor gene-based tests in BPI. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 24)

GO terms by PBA (count: 3)

GO terms by database search (count: 21)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Related other genetic factors
Gene related SNPs (count: 2)

Literature-origin SNPs (count: 1)

LD-proxies (count: 1)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 2)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 2)

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr12:26120026..26125127 View in gBrowse
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