BHLHE41 (basic helix-loop-helix family member e41) - Rat Genome Database

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Gene: BHLHE41 (basic helix-loop-helix family member e41) Homo sapiens
Analyze
Symbol: BHLHE41
Name: basic helix-loop-helix family member e41
RGD ID: 731061
HGNC Page HGNC
Description: Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; E-box binding activity; and protein heterodimerization activity. Involved in negative regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: basic helix-loop-helix domain containing, class B, 3; basic helix-loop-helix family, member e41; BHLHB3; class E basic helix-loop-helix protein 41; DEC2; differentially expressed in chondrocytes 2; differentially expressed in chondrocytes protein 2; enhancer-of-split and hairy-related protein 1; FNSS1; hDEC2; SHARP-1; SHARP1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1226,120,030 - 26,125,037 (-)EnsemblGRCh38hg38GRCh38
GRCh381226,120,030 - 26,125,037 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371226,272,963 - 26,277,970 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,164,226 - 26,169,113 (-)NCBINCBI36hg18NCBI36
Build 341226,164,227 - 26,169,113NCBI
Celera1231,419,506 - 31,424,550 (-)NCBI
Cytogenetic Map12p12.1NCBI
HuRef1226,043,295 - 26,047,960 (-)NCBIHuRef
CHM1_11226,237,976 - 26,243,020 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,3-dinitrobenzene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxynon-2-enal  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
benzo[a]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bexarotene  (ISO)
bisphenol A  (ISO)
butanal  (EXP)
cannabidiolic acid  (EXP)
carbon nanotube  (ISO)
cefaloridine  (ISO)
chloroprene  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
clofibric acid  (ISO)
crocidolite asbestos  (EXP)
dexamethasone  (ISO)
dichloroacetic acid  (ISO)
diethyl maleate  (ISO)
dimethylarsinous acid  (EXP)
dioxygen  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (EXP)
fenamidone  (ISO)
folic acid  (EXP,ISO)
genistein  (ISO)
ketamine  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
pentanal  (EXP)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP,ISO)
propanal  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
serpentine asbestos  (EXP)
sevoflurane  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
Soman  (ISO)
sunitinib  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
troglitazone  (ISO)
undecane  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:11058868   PMID:11162494   PMID:11278948   PMID:12354771   PMID:12477932   PMID:12624110   PMID:12657651   PMID:14672706   PMID:15193144   PMID:15560782   PMID:16287852   PMID:17194498  
PMID:17487425   PMID:18223678   PMID:18228528   PMID:18345027   PMID:18411297   PMID:18557763   PMID:19029947   PMID:19274049   PMID:19679812   PMID:19786558   PMID:19839995   PMID:19913121  
PMID:20072116   PMID:20174623   PMID:20628086   PMID:20821348   PMID:21129405   PMID:21327324   PMID:21873635   PMID:22355045   PMID:22572381   PMID:22801492   PMID:23555304   PMID:23637228  
PMID:24165159   PMID:24561520   PMID:24918449   PMID:24997474   PMID:25083013   PMID:25446074   PMID:25524285   PMID:25884381   PMID:26391953   PMID:26496610   PMID:26710124   PMID:27095063  
PMID:27121679   PMID:27384883   PMID:27430159   PMID:27840924   PMID:27845885   PMID:28473536   PMID:28715484   PMID:29531056   PMID:29692408   PMID:29844126   PMID:29890466   PMID:30106153  
PMID:30250985   PMID:30816499   PMID:32073238   PMID:32521900   PMID:32858102   PMID:33101542   PMID:33176151   PMID:34638690  


Genomics

Comparative Map Data
BHLHE41
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1226,120,030 - 26,125,037 (-)EnsemblGRCh38hg38GRCh38
GRCh381226,120,030 - 26,125,037 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371226,272,963 - 26,277,970 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,164,226 - 26,169,113 (-)NCBINCBI36hg18NCBI36
Build 341226,164,227 - 26,169,113NCBI
Celera1231,419,506 - 31,424,550 (-)NCBI
Cytogenetic Map12p12.1NCBI
HuRef1226,043,295 - 26,047,960 (-)NCBIHuRef
CHM1_11226,237,976 - 26,243,020 (-)NCBICHM1_1
Bhlhe41
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396145,803,969 - 145,811,146 (-)NCBIGRCm39mm39
GRCm39 Ensembl6145,803,969 - 145,811,284 (-)Ensembl
GRCm386145,858,243 - 145,865,420 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6145,858,243 - 145,865,558 (-)EnsemblGRCm38mm10GRCm38
MGSCv376145,811,257 - 145,813,860 (-)NCBIGRCm37mm9NCBIm37
MGSCv366145,819,896 - 145,822,499 (-)NCBImm8
Celera6148,934,952 - 148,937,555 (-)NCBICelera
Cytogenetic Map6G3NCBI
cM Map677.7NCBI
Bhlhe41
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24178,833,085 - 178,838,685 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl4178,834,271 - 178,838,468 (-)Ensembl
Rnor_6.04180,230,742 - 180,235,138 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4180,232,382 - 180,234,804 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04244,394,139 - 244,398,535 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera4167,334,944 - 167,338,512 (-)NCBICelera
Cytogenetic Map4q44NCBI
Bhlhe41
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541321,100,021 - 21,103,358 (-)NCBIChiLan1.0ChiLan1.0
BHLHE41
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11262,806,113 - 62,810,773 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01260,194,758 - 60,199,344 (+)NCBIMhudiblu_PPA_v0panPan3
BHLHE41
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12721,464,302 - 21,469,119 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2724,913,768 - 24,918,529 (-)NCBI
ROS_Cfam_1.02721,659,233 - 21,663,998 (+)NCBI
UMICH_Zoey_3.12721,469,068 - 21,473,810 (+)NCBI
UNSW_CanFamBas_1.02721,491,838 - 21,496,575 (+)NCBI
UU_Cfam_GSD_1.02725,081,155 - 25,085,938 (-)NCBI
Bhlhe41
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494583,384,039 - 83,391,789 (+)NCBI
SpeTri2.0NW_0049365481,306,939 - 1,314,678 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BHLHE41
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl547,686,404 - 47,692,762 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1547,687,662 - 47,692,761 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2551,429,074 - 51,433,848 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BHLHE41
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11125,872,139 - 25,879,985 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1125,874,108 - 25,876,826 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660699,196,174 - 9,200,076 (+)NCBIVero_WHO_p1.0
Bhlhe41
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475213,000,238 - 13,004,777 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
STS-R68240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,273,298 - 26,273,426UniSTSGRCh37
Build 361226,164,565 - 26,164,693RGDNCBI36
Celera1231,419,845 - 31,419,973RGD
Cytogenetic Map12p12.1UniSTS
HuRef1226,043,634 - 26,043,762UniSTS
GeneMap99-GB4 RH Map12101.71UniSTS
NCBI RH Map12286.6UniSTS
RH80435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,274,059 - 26,274,283UniSTSGRCh37
Build 361226,165,326 - 26,165,550RGDNCBI36
Celera1231,420,606 - 31,420,830RGD
Cytogenetic Map12p12.1UniSTS
HuRef1226,044,395 - 26,044,619UniSTS
RH103397  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,273,614 - 26,273,745UniSTSGRCh37
Build 361226,164,881 - 26,165,012RGDNCBI36
Celera1231,420,161 - 31,420,292RGD
Cytogenetic Map12p12.1UniSTS
HuRef1226,043,950 - 26,044,081UniSTS
GeneMap99-GB4 RH Map12102.13UniSTS
BHLHB3_2085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,273,325 - 26,274,202UniSTSGRCh37
Build 361226,164,592 - 26,165,469RGDNCBI36
Celera1231,419,872 - 31,420,749RGD
HuRef1226,043,661 - 26,044,538UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1231
Count of miRNA genes:859
Interacting mature miRNAs:985
Transcripts:ENST00000242728, ENST00000394326, ENST00000541271
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 10
Medium 1375 1321 1208 173 466 37 2885 1428 3489 216 754 1268 141 815 2125 2
Low 1036 1119 282 219 771 197 1446 748 225 195 666 293 31 1 389 663 3 1
Below cutoff 19 538 233 230 633 229 25 17 12 8 23 44 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000242728   ⟹   ENSP00000242728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,120,030 - 26,125,037 (-)Ensembl
RefSeq Acc Id: ENST00000394326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,122,958 - 26,123,768 (-)Ensembl
RefSeq Acc Id: ENST00000541271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,123,988 - 26,124,899 (-)Ensembl
RefSeq Acc Id: NM_030762   ⟹   NP_110389
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,120,030 - 26,125,037 (-)NCBI
GRCh371226,272,959 - 26,278,003 (-)ENTREZGENE
Build 361226,164,226 - 26,169,113 (-)NCBI Archive
HuRef1226,043,295 - 26,047,960 (-)ENTREZGENE
CHM1_11226,237,976 - 26,243,020 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_110389   ⟸   NM_030762
- UniProtKB: Q9C0J9 (UniProtKB/Swiss-Prot),   A0A024RAV8 (UniProtKB/TrEMBL),   Q8TAT1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000242728   ⟸   ENST00000242728
Protein Domains
bHLH   Orange

Promoters
RGD ID:7223475
Promoter ID:EPDNEW_H17483
Type:initiation region
Name:BHLHE41_4
Description:basic helix-loop-helix family member e41
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17484  EPDNEW_H17485  EPDNEW_H17486  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,124,898 - 26,124,958EPDNEW
RGD ID:7223477
Promoter ID:EPDNEW_H17484
Type:initiation region
Name:BHLHE41_1
Description:basic helix-loop-helix family member e41
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17483  EPDNEW_H17485  EPDNEW_H17486  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,125,036 - 26,125,096EPDNEW
RGD ID:7223479
Promoter ID:EPDNEW_H17485
Type:initiation region
Name:BHLHE41_3
Description:basic helix-loop-helix family member e41
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17483  EPDNEW_H17484  EPDNEW_H17486  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,126,152 - 26,126,212EPDNEW
RGD ID:7223481
Promoter ID:EPDNEW_H17486
Type:multiple initiation site
Name:BHLHE41_2
Description:basic helix-loop-helix family member e41
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17483  EPDNEW_H17484  EPDNEW_H17485  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,126,569 - 26,126,629EPDNEW
RGD ID:6789715
Promoter ID:HG_KWN:15230
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:UC001RHB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361226,169,081 - 26,169,792 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_030762.3(BHLHE41):c.1151C>G (p.Pro384Arg) single nucleotide variant Short sleep, familial natural, 1 [RCV000004788] Chr12:26122364 [GRCh38]
Chr12:26275297 [GRCh37]
Chr12:12p12.1
pathogenic|affects
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1 copy number loss See cases [RCV000052782] Chr12:19295848..27012560 [GRCh38]
Chr12:19448782..27165493 [GRCh37]
Chr12:19340049..27056760 [NCBI36]
Chr12:12p12.3-11.23
pathogenic
GRCh38/hg38 12p12.1-11.21(chr12:21771052-32222232)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|See cases [RCV000052783] Chr12:21771052..32222232 [GRCh38]
Chr12:21923986..32375166 [GRCh37]
Chr12:21815253..32266433 [NCBI36]
Chr12:12p12.1-11.21
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1 copy number loss See cases [RCV000133858] Chr12:25263833..34064528 [GRCh38]
Chr12:25416767..34217463 [GRCh37]
Chr12:25308034..34108730 [NCBI36]
Chr12:12p12.1-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3 copy number gain See cases [RCV000446008] Chr12:18037107..26681362 [GRCh37]
Chr12:12p12.3-11.23
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
NM_030762.3(BHLHE41):c.1080C>G (p.Ala360=) single nucleotide variant not provided [RCV000883991] Chr12:26122435 [GRCh38]
Chr12:26275368 [GRCh37]
Chr12:12p12.1
likely benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1 copy number loss not provided [RCV000849815] Chr12:16141429..27733325 [GRCh37]
Chr12:12p12.3-11.23
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_030762.3(BHLHE41):c.1084T>C (p.Tyr362His) single nucleotide variant Short sleep, familial natural, 1 [RCV000851542] Chr12:26122431 [GRCh38]
Chr12:26275364 [GRCh37]
Chr12:12p12.1
affects

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16617 AgrOrtholog
COSMIC BHLHE41 COSMIC
Ensembl Genes ENSG00000123095 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000242728 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000242728 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000123095 GTEx
HGNC ID HGNC:16617 ENTREZGENE
Human Proteome Map BHLHE41 Human Proteome Map
InterPro bHLH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Orange_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79365 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 79365 ENTREZGENE
OMIM 606200 OMIM
  612975 OMIM
Pfam Hairy_orange UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164716636 PharmGKB
PROSITE BHLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ORANGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ORANGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47459 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RAV8 ENTREZGENE, UniProtKB/TrEMBL
  BHE41_HUMAN UniProtKB/Swiss-Prot
  Q8TAT1 ENTREZGENE, UniProtKB/TrEMBL
  Q9C0J9 ENTREZGENE
UniProt Secondary A2I2N8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 BHLHE41  basic helix-loop-helix family member e41    basic helix-loop-helix family, member e41  Symbol and/or name change 5135510 APPROVED