BHLHE23 (basic helix-loop-helix family member e23)

Gene: BHLHE23 (basic helix-loop-helix family member e23) Homo sapiens

Analyze

Symbol:

BHLHE23

Name:

basic helix-loop-helix family member e23

RGD ID:

1346145

HGNC Page

HGNC:16093

Description:

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in neuron differentiation; positive regulation of transcription by RNA polymerase II; and sensory organ development. Predicted to act upstream of or within negative regulation of retinal cell programmed cell death; post-embryonic eye morphogenesis; and retinal rod cell development. Predicted to be part of chromatin. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

bA305P22.3; basic helix-loop-helix domain containing, class B, 4; basic helix-loop-helix family, member e23; Beta3b; BETA4; BHLHB4; class B basic helix-loop-helix protein 4; class E basic helix-loop-helix protein 23

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	63,005,927 - 63,006,964 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	63,005,927 - 63,007,035 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	61,637,279 - 61,638,316 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	61,107,846 - 61,108,787 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	61,107,846 - 61,108,787	NCBI
Celera	20	58,313,980 - 58,315,036 (-)	NCBI		Celera
Cytogenetic Map	20	q13.33	NCBI
HuRef	20	58,354,584 - 58,355,640 (-)	NCBI		HuRef
CHM1_1	20	61,538,035 - 61,539,091 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	20	64,806,267 - 64,807,304 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autosomal dominant nocturnal frontal lobe epilepsy (IAGP)

benign familial infantile seizures 6 (IAGP)

developmental and epileptic encephalopathy (IAGP)

developmental and epileptic encephalopathy 33 (IAGP)

early infantile epileptic encephalopathy (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

4,4'-sulfonyldiphenol (ISO)

6-propyl-2-thiouracil (ISO)

acrylamide (ISO)

arsenite(3-) (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

bisphenol F (ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

copper atom (ISO)

copper(0) (ISO)

iron dichloride (EXP)

N,N-diethyl-m-toluamide (ISO)

permethrin (ISO)

resveratrol (EXP)

trichloroethene (ISO)

triptonide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

axon development (IBA)

negative regulation of retinal cell programmed cell death (IEA,ISO)

neuron fate commitment (IBA)

positive regulation of transcription by RNA polymerase II (IBA,IEA,ISO)

post-embryonic eye morphogenesis (IEA,ISO)

retinal cell programmed cell death (IEA,ISO)

retinal rod cell development (IEA,ISO)

sensory organ development (IBA)

Cellular Component

chromatin (ISA)

nucleus (IBA,IEA)

Molecular Function

DNA binding (IEA)

DNA-binding transcription factor activity (IBA)

DNA-binding transcription factor activity, RNA polymerase II-specific (ISA)

E-box binding (IBA)

protein binding (IPI)

protein dimerization activity (IEA)

sequence-specific double-stranded DNA binding (IDA,IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:11780052	PMID:11863370	PMID:12136098	PMID:12477932	PMID:12617822	PMID:14516699	PMID:15363390	PMID:18557763	PMID:19274049	PMID:21873635	PMID:23756994	PMID:28473536
PMID:30833792	PMID:32296183	PMID:33961781

Genomics

Comparative Map Data

BHLHE23
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	63,005,927 - 63,006,964 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	63,005,927 - 63,007,035 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	61,637,279 - 61,638,316 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	61,107,846 - 61,108,787 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	61,107,846 - 61,108,787	NCBI
Celera	20	58,313,980 - 58,315,036 (-)	NCBI		Celera
Cytogenetic Map	20	q13.33	NCBI
HuRef	20	58,354,584 - 58,355,640 (-)	NCBI		HuRef
CHM1_1	20	61,538,035 - 61,539,091 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	20	64,806,267 - 64,807,304 (-)	NCBI		T2T-CHM13v2.0

Bhlhe23
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	180,416,174 - 180,418,693 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	180,416,174 - 180,418,693 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	180,774,381 - 180,776,900 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	180,774,381 - 180,776,900 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	180,509,086 - 180,511,605 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	180,704,066 - 180,706,308 (-)	NCBI		MGSCv36	mm8
Celera	2	184,860,531 - 184,863,050 (-)	NCBI		Celera
Cytogenetic Map	2	H4	NCBI
cM Map	2	103.34	NCBI

Bhlhe23
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	188,266,572 - 188,268,786 (-)	NCBI		GRCr8
mRatBN7.2	3	167,889,009 - 167,891,223 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	167,889,009 - 167,891,223 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	172,268,753 - 172,270,967 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	181,227,851 - 181,230,065 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	177,889,943 - 177,892,157 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	176,279,997 - 176,282,211 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	176,279,997 - 176,282,211 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	179,978,577 - 179,980,791 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	169,886,343 - 169,888,557 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	3	164,692,856 - 164,695,070 (+)	NCBI		Celera
Cytogenetic Map	3	q43	NCBI

Bhlhe23
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955528	1,094,234 - 1,094,674 (+)	NCBI	ChiLan1.0	ChiLan1.0

BHLHE23
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	21	68,789,672 - 68,792,505 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	20	68,783,116 - 68,785,624 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	20	59,385,608 - 59,392,078 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	20	60,681,496 - 60,681,988 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

BHLHE23
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	24	46,791,368 - 46,792,019 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	24	45,975,704 - 45,976,372 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	24	47,663,555 - 47,669,166 (-)	NCBI		ROS_Cfam_1.0
UNSW_CanFamBas_1.0	24	46,884,708 - 46,885,377 (-)	NCBI		UNSW_CanFamBas_1.0

BHLHE23
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	62,227,916 - 62,228,638 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	62,217,583 - 62,228,599 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

BHLHE23
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	2	1,215,909 - 1,221,960 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	1,216,206 - 1,216,883 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666050	49,005,375 - 49,006,567 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Bhlhe23
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624741	28,766,303 - 28,766,920 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624741	28,762,079 - 28,766,989 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in BHLHE23
6 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	copy number loss	See cases [RCV000052768]	Chr20:62455231..63839491 [GRCh38] Chr20:61030287..62470844 [GRCh37] Chr20:60463682..61941288 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	copy number loss	See cases [RCV000052769]	Chr20:62545370..64241486 [GRCh38] Chr20:61142577..62872839 [GRCh37] Chr20:60553022..62343283 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:62561794-63331723)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052770]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052770]\|See cases [RCV000052770]	Chr20:62561794..63331723 [GRCh38] Chr20:61211869..61963075 [GRCh37] Chr20:60569446..61433519 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	copy number gain	See cases [RCV000053035]	Chr20:44787704..64277321 [GRCh38] Chr20:43416345..62908674 [GRCh37] Chr20:42849759..62379118 [NCBI36] Chr20:20q13.12-13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	copy number loss	See cases [RCV000133842]	Chr20:62561794..64277321 [GRCh38] Chr20:61211869..62908674 [GRCh37] Chr20:60569446..62379118 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	copy number gain	See cases [RCV000135859]	Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33	pathogenic
GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	copy number gain	See cases [RCV000135805]	Chr20:59041966..64277321 [GRCh38] Chr20:57617021..62908674 [GRCh37] Chr20:57050416..62379118 [NCBI36] Chr20:20q13.32-13.33	pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	copy number gain	See cases [RCV000138035]	Chr20:56198032..64277321 [GRCh38] Chr20:54773088..62908674 [GRCh37] Chr20:54206495..62379118 [NCBI36] Chr20:20q13.2-13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	copy number gain	See cases [RCV000139100]	Chr20:61326549..64277326 [GRCh38] Chr20:59901605..62908679 [GRCh37] Chr20:59335000..62379123 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:62939140-63198970)x3	copy number gain	See cases [RCV000139758]	Chr20:62939140..63198970 [GRCh38] Chr20:61570492..61830322 [GRCh37] Chr20:61040937..61300767 [NCBI36] Chr20:20q13.33	likely benign
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	copy number gain	See cases [RCV000141347]	Chr20:57229415..64273089 [GRCh38] Chr20:55804471..62904442 [GRCh37] Chr20:55237878..62374886 [NCBI36] Chr20:20q13.31-13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	copy number loss	See cases [RCV000141744]	Chr20:62582073..64284202 [GRCh38] Chr20:61179280..62915555 [GRCh37] Chr20:60589725..62385999 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	copy number loss	See cases [RCV000141676]	Chr20:62663307..64284202 [GRCh38] Chr20:61294659..62915555 [GRCh37] Chr20:60765104..62385999 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	copy number gain	See cases [RCV000143584]	Chr20:53236165..64284202 [GRCh38] Chr20:51852704..62915555 [GRCh37] Chr20:51286111..62385999 [NCBI36] Chr20:20q13.2-13.33	likely pathogenic
GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207130]	Chr20:60882468..62045494 [GRCh37] Chr20:20q13.33	uncertain significance
chr20:60885242-61929348 complex variant	complex	Breast ductal adenocarcinoma [RCV000207152]	Chr20:60885242..61929348 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61429900-62293991)x1	copy number loss	See cases [RCV000240573]	Chr20:61429900..62293991 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1	copy number loss	not provided [RCV000488148]	Chr20:61337529..62904501 [GRCh37] Chr20:20q13.33	likely pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555)x3	copy number gain	See cases [RCV000446009]	Chr20:60473339..62915555 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	copy number gain	See cases [RCV000511980]	Chr20:51542616..62915555 [GRCh37] Chr20:20q13.2-13.33	likely pathogenic
GRCh37/hg19 20q13.33(chr20:61602977-62450998)x3	copy number gain	See cases [RCV000511879]	Chr20:61602977..62450998 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	copy number gain	See cases [RCV000510832]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	copy number gain	See cases [RCV000512450]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:61530581-61911114)x1	copy number loss	See cases [RCV000512342]	Chr20:61530581..61911114 [GRCh37] Chr20:20q13.33	likely benign
GRCh37/hg19 20q13.33(chr20:61022397-61738592)x1	copy number loss	not provided [RCV000684122]	Chr20:61022397..61738592 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3	copy number gain	not provided [RCV000741059]	Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:60053234-62961294)x3	copy number gain	not provided [RCV000741328]	Chr20:60053234..62961294 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:60063645-62961294)x3	copy number gain	not provided [RCV000741329]	Chr20:60063645..62961294 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:61612628-61820201)x3	copy number gain	not provided [RCV000741363]	Chr20:61612628..61820201 [GRCh37] Chr20:20q13.33	benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3	copy number gain	not provided [RCV000741057]	Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3	copy number gain	not provided [RCV000741058]	Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	copy number gain	not provided [RCV000767669]	Chr20:54143747..62194881 [GRCh37] Chr20:20q13.2-13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:60946209-61975606)x3	copy number gain	not provided [RCV000847979]	Chr20:60946209..61975606 [GRCh37] Chr20:20q13.33	uncertain significance
NC_000020.10:g.(?_60831241)_(62680869_?)dup	duplication	Developmental and epileptic encephalopathy, 33 [RCV003107566]\|Early infantile epileptic encephalopathy with suppression bursts [RCV003122564]	Chr20:60831241..62680869 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	copy number gain	not provided [RCV002473575]	Chr20:60621074..62915555 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1	copy number loss	not provided [RCV001007103]	Chr20:61152321..62915555 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	copy number gain	not provided [RCV001007097]	Chr20:55743522..62032989 [GRCh37] Chr20:20q13.31-13.33	pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	copy number gain	not provided [RCV001007098]	Chr20:56788101..62762405 [GRCh37] Chr20:20q13.32-13.33	pathogenic
NC_000020.10:g.(?_60831241)_(62664346_?)dup	duplication	Developmental and epileptic encephalopathy, 33 [RCV001295457]\|Early infantile epileptic encephalopathy with suppression bursts [RCV001316934]	Chr20:60831241..62664346 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61507440-62318983)x3	copy number gain	not provided [RCV001258919]	Chr20:61507440..62318983 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61510452-62315381)	copy number loss	Epileptic spasm [RCV001352668]	Chr20:61510452..62315381 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	copy number gain	not provided [RCV001537917]	Chr20:51799648..62916626 [GRCh37] Chr20:20q13.2-13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:61038552-62907579)	copy number loss	Seizures, benign familial neonatal, 1 [RCV001786557]	Chr20:61038552..62907579 [GRCh37] Chr20:20q13.33	likely pathogenic
GRCh37/hg19 20q13.33(chr20:61041481-62680992)	copy number loss	Seizures, benign familial neonatal, 1 [RCV001786555]	Chr20:61041481..62680992 [GRCh37] Chr20:20q13.33	likely pathogenic
GRCh37/hg19 20q13.33(chr20:61273854-62907579)	copy number loss	Seizures, benign familial neonatal, 1 [RCV001786556]	Chr20:61273854..62907579 [GRCh37] Chr20:20q13.33	likely pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	copy number gain	not specified [RCV002052713]	Chr20:56835739..62915555 [GRCh37] Chr20:20q13.32-13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:61634256-61975378)x1	copy number loss	not provided [RCV001829210]	Chr20:61634256..61975378 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61619222-62915555)	copy number loss	not specified [RCV002052718]	Chr20:61619222..62915555 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555)	copy number gain	not specified [RCV002052714]	Chr20:60473339..62915555 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61003263-62915555)	copy number loss	not specified [RCV002052717]	Chr20:61003263..62915555 [GRCh37] Chr20:20q13.33	pathogenic
NC_000020.10:g.(?_61448417)_(62124660_?)del	deletion	Autosomal dominant nocturnal frontal lobe epilepsy [RCV001916149]\|Developmental and epileptic encephalopathy, 33 [RCV003107883]	Chr20:61448417..62124660 [GRCh37] Chr20:20q13.33	uncertain significance
NC_000020.10:g.(?_61471874)_(62078210_?)del	deletion	Early infantile epileptic encephalopathy with suppression bursts [RCV003113817]	Chr20:61471874..62078210 [GRCh37] Chr20:20q13.33	pathogenic
Single allele	duplication	not provided [RCV002266602]	Chr20:62941782..63658260 [GRCh38] Chr20:20q13.33	uncertain significance
Single allele	duplication	not specified [RCV002286379]	Chr20:61800345..63644611 [GRCh38] Chr20:20q13.33	uncertain significance
NM_080606.4(BHLHE23):c.296G>T (p.Arg99Leu)	single nucleotide variant	Inborn genetic diseases [RCV002684188]	Chr20:63006479 [GRCh38] Chr20:61637831 [GRCh37] Chr20:20q13.33	uncertain significance
NM_080606.4(BHLHE23):c.270C>A (p.Asp90Glu)	single nucleotide variant	Inborn genetic diseases [RCV002844635]	Chr20:63006505 [GRCh38] Chr20:61637857 [GRCh37] Chr20:20q13.33	uncertain significance
NM_080606.4(BHLHE23):c.88G>T (p.Ala30Ser)	single nucleotide variant	Inborn genetic diseases [RCV002981279]	Chr20:63006687 [GRCh38] Chr20:61638039 [GRCh37] Chr20:20q13.33	uncertain significance
NM_080606.4(BHLHE23):c.151G>A (p.Glu51Lys)	single nucleotide variant	Inborn genetic diseases [RCV003185321]	Chr20:63006624 [GRCh38] Chr20:61637976 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	copy number gain	See cases [RCV003329549]	Chr20:52773668..62965020 [GRCh37] Chr20:20q13.2-13.33	uncertain significance
GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	copy number loss	Neurodevelopmental disorder [RCV003327727]	Chr20:62632017..63794804 [GRCh38] Chr20:20q13.33	pathogenic
NM_080606.4(BHLHE23):c.403G>T (p.Ala135Ser)	single nucleotide variant	Inborn genetic diseases [RCV003343257]	Chr20:63006372 [GRCh38] Chr20:61637724 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61421505-62070966)x1	copy number loss	not specified [RCV003986131]	Chr20:61421505..62070966 [GRCh37] Chr20:20q13.33	pathogenic
NM_080606.4(BHLHE23):c.208G>A (p.Ala70Thr)	single nucleotide variant	Inborn genetic diseases [RCV003359784]	Chr20:63006567 [GRCh38] Chr20:61637919 [GRCh37] Chr20:20q13.33	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	400
Count of miRNA genes:	380
Interacting mature miRNAs:	400
Transcripts:	ENST00000370346
Prediction methods:	Miranda, Rnahybrid
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
High
Medium					6							1
Low	10	4	6	1	91	1	85	4	21	1	220	25	1	1	3	7
Below cutoff	488	945	439	82	439	41	1445	588	1096	39	355	463	41		481	908	1

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_080606	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AJ328944	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL121673	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC137288	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC137308	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BK000274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000370346 ⟹ ENSP00000359371

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	63,005,979 - 63,007,035 (-)	Ensembl

RefSeq Acc Id:

ENST00000612929 ⟹ ENSP00000480998

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	63,005,927 - 63,006,964 (-)	Ensembl

RefSeq Acc Id:

NM_080606 ⟹ NP_542173

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	63,005,927 - 63,006,964 (-)	NCBI
GRCh37	20	61,637,331 - 61,638,387 (-)	RGD
Build 36	20	61,107,846 - 61,108,787 (-)	NCBI Archive
Celera	20	58,313,980 - 58,315,036 (-)	RGD
HuRef	20	58,354,584 - 58,355,640 (-)	RGD
CHM1_1	20	61,538,035 - 61,539,091 (-)	NCBI
T2T-CHM13v2.0	20	64,806,267 - 64,807,304 (-)	NCBI

Sequence:

show sequence

AGAGCCCGCCCCCTGCGCGTCGCGGCTGGGAGGGAGAGGAGGTGGGAGAGAAGGAAGAGGCGGA
GGAGGCAGCGGGCGCCGAGGCTCTGGGACCCGCAGGCAAGCCAGACCGACGCGCAGAGCCGGGA
GCCTCATCGCAGCGGCAGCGGCAGCGGCGGGCTCGGGCCGGCCTCGGGGGCTGCTCACCCACAT
GAGCATCCGCCCACCCGGCGAGCCCCCGAGCCCAGGCGGCGCGGCCATGGCCGAGCTCAAGTCG
CTGTCGGGGGACGCGTACCTGGCACTAAGCCACGGCTACGCGGCGGCGGCTGCGGGTCTCGCCT
ACGGGGCGGCGCGAGAACCCGAAGCGGCCCGCGGCTACGGCACTCCGGGCCCGGGCGGCGACCT
CCCCGCGGCGCCTGCACCTCGCGCCCCAGCTCAGGCGGCGGAGAGCAGCGGCGAACAGAGCGGG
GACGAGGACGACGCCTTCGAGCAGCGGCGGCGGCGGCGCGGGCCAGGGAGCGCGGCGGACGGGC
GGCGGCGGCCGCGAGAGCAGCGGTCTCTGCGGCTCAGCATCAACGCGCGCGAGCGGCGGCGCAT
GCACGACCTAAACGACGCGCTGGACGGGCTGCGAGCCGTCATCCCCTACGCGCACAGCCCGTCG
GTGCGCAAGCTCTCCAAGATCGCCACGCTGCTGCTCGCCAAGAACTATATCCTCATGCAGGCGC
AGGCCCTGGACGAGATGCGGCGCCTGGTGGCCTTCCTCAACCAGGGCCAGGGCCTGGCCGCGCC
CGTAAACGCCGCGCCCTTGACGCCCTTCGGCCAGGCCACTGTGTGCCCCTTCTCCGCAGGCGCC
GCCCTGGGGCCCTGCCCTGACAAGTGCGCCGCCTTCTCCGGGACGCCCTCCGCGCTTTGCAAAC
ACTGTCACGAGAAGCCGTGACCGCGCGGGCCCCCGGCCCTCCCGCACGCGTCCTCCGATCGCCC
CTGTGACTGTCTCTCTGCCCGGACAGGAAAGGCCTGGAGGGACCCTGCAGACCAGGAGGAGGGG
GCCCGACTTCGCTT

hide sequence

Protein Sequences


Protein RefSeqs	NP_542173	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI37289	(Get FASTA)	NCBI Sequence Viewer
	AAI37309	(Get FASTA)	NCBI Sequence Viewer
	DAA01054	(Get FASTA)	NCBI Sequence Viewer
	EAW75311	(Get FASTA)	NCBI Sequence Viewer
	EAW75312	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000359371.2
	ENSP00000480998
	ENSP00000480998.1
GenBank Protein	Q8NDY6	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_542173 ⟸ NM_080606

- UniProtKB:

B2RP69 (UniProtKB/Swiss-Prot), Q8NDY6 (UniProtKB/Swiss-Prot), A0A087WXG3 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSIRPPGEPPSPGGAAMAELKSLSGDAYLALSHGYAAAAAGLAYGAAREPEAARGYGTPGPGGD
LPAAPAPRAPAQAAESSGEQSGDEDDAFEQRRRRRGPGSAADGRRRPREQRSLRLSINARERRR
MHDLNDALDGLRAVIPYAHSPSVRKLSKIATLLLAKNYILMQAQALDEMRRLVAFLNQGQGLAA
PVNAAPLTPFGQATVCPFSAGAALGPCPDKCAAFSGTPSALCKHCHEKP

hide sequence

RefSeq Acc Id:

ENSP00000359371 ⟸ ENST00000370346

RefSeq Acc Id:

ENSP00000480998 ⟸ ENST00000612929

Protein Domains

bHLH

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NDY6-F1-model_v2	AlphaFold	Q8NDY6	1-225	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:16093	AgrOrtholog
COSMIC	BHLHE23	COSMIC
Ensembl Genes	ENSG00000125533	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000370346.2	UniProtKB/Swiss-Prot
	ENST00000612929	ENTREZGENE
	ENST00000612929.2	UniProtKB/TrEMBL
Gene3D-CATH	4.10.280.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000125533	GTEx
HGNC ID	HGNC:16093	ENTREZGENE
Human Proteome Map	BHLHE23	Human Proteome Map
InterPro	bHLH_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HLH_DNA-bd_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:128408	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	128408	ENTREZGENE
OMIM	609331	OMIM
PANTHER	BASIC HELIX-LOOP-HELIX PROTEIN NEUROGENIN-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR19290:SF53	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	HLH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA164716615	PharmGKB
PROSITE	BHLH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	HLH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF47459	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A087WXG3	ENTREZGENE, UniProtKB/TrEMBL
	B2RP69	ENTREZGENE
	BHE23_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	B2RP69	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	BHLHE23	basic helix-loop-helix family member e23	BHLHE23	basic helix-loop-helix family, member e23	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar