Bhlhe40 MGI Mouse Gene Detail - MGI:1097714 - basic helix-loop-helix family, member e40

Symbol

Bhlhe40
Name

basic helix-loop-helix family, member e40
Synonyms

Bhlhb2, C130042M06Rik, Clast5, CR8, cytokine response gene 8, DEC1, eip1 (E47 interaction protein 1), Sharp2, Stra13, Stra14

Feature Type

protein coding gene
IDs

MGI:1097714
NCBI Gene: 20893
Alliance

gene page
Transcription Start Sites

17 TSS

Sequence Map

Chr6:108637590-108643886 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 49.85 cM, cytoband E-F1
Mapping Data

2 experiments

SNPs within 2kb

173 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1097714	protein coding gene	Chr6:108637590-108643886 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031101	protein coding gene	Chr6:110939180-110945488 (+)
A/J	MGP_AJ_G0031070	protein coding gene	Chr6:106733092-106739403 (+)
AKR/J	MGP_AKRJ_G0031001	protein coding gene	Chr6:109611408-109617713 (+)
BALB/cJ	MGP_BALBcJ_G0031081	protein coding gene	Chr6:106662273-106668581 (+)
C3H/HeJ	MGP_C3HHeJ_G0030627	protein coding gene	Chr6:74741918-74748259 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031540	protein coding gene	Chr6:113850007-113856352 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028704	protein coding gene	Chr6:104025383-104031695 (+)
CAST/EiJ	MGP_CASTEiJ_G0030188	protein coding gene	Chr6:109982255-109988565 (+)
CBA/J	MGP_CBAJ_G0030767	protein coding gene	Chr6:118230389-118239303 (+)
DBA/2J	MGP_DBA2J_G0030920	protein coding gene	Chr6:105870689-105877001 (+)
FVB/NJ	MGP_FVBNJ_G0030874	protein coding gene	Chr6:104903225-104910176 (+)
LP/J	MGP_LPJ_G0031000	protein coding gene	Chr6:110998761-111005130 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030908	protein coding gene	Chr6:122460584-122467707 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031567	protein coding gene	Chr6:109553116-109559425 (+)
PWK/PhJ	MGP_PWKPhJ_G0029904	protein coding gene	Chr6:104789421-104795985 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029732	protein coding gene	Chr6:108345155-108351446 (+)
WSB/EiJ	MGP_WSBEiJ_G0030272	protein coding gene	Chr6:110097723-110104068 (+)

Human Ortholog

BHLHE40, basic helix-loop-helix family member e40

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BHLHE40, basic helix-loop-helix family member e40
Synonyms

BHLHB2, Clast5, DEC1, HLHB2, SHARP-2, SHARP2, STRA13, Stra14
Links

HGNC:1046

NCBI Gene ID: 8553

neXtProt AC: NX_O14503

UniProt: O14503
Chr Location

3p26.1; chr3:4979437-4985323 (+) GRCh38

MGI Vertebrate Homology

Bhlhe40 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: BHLHE40
Gene Tree

Bhlhe40

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Phenotype Summary

35 phenotypes from 3 alleles in 5 genetic backgrounds
2 phenotypes from multigenic genotypes
68 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

20
Endonuclease-mediated

8
Gene trapped

1
Spontaneous

1
Targeted

9
Transgenic

1
Genomic Mutations

1 involving Bhlhe40
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

51 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in impaired immune function and hyperplasia of the lymphoid organs. Aging mutant animals exhibit autoimmune disease.

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All GO Annotations

48
GO References

13

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

890
Tissues

128
cDNA Data

148
Literature Summary

28

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

GEISHA BHLHE40

Xenbase bhlhe40

ZFIN bhlhe40

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All Sequences

41
RefSeq

2
UniProt

4
CCDS

CCDS20400.1

Ensembl

ENSMUSG00000030103 (Evidence)
NCBI Gene

20893

			Length	Strain/Species	Flank
genomic	20893	NCBI Gene Model \| MGI Sequence Detail	6297	C57BL/6J	± kb
transcript	NM_011498	RefSeq \| MGI Sequence Detail	3113	C57BL/6
polypeptide	O35185	UniProt \| EBI \| MGI Sequence Detail	411	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000004740 class E basic helix-loop-helix protein 40

(term hierarchy)
InterPro Domains

IPR050370 Hairy and Enhancer of Split/HEY-related

IPR036638 Helix-loop-helix DNA-binding domain superfamily

IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain

IPR003650 Orange domain

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All nucleic 153

Genomic 1

cDNA 148

Primer pair 3

Other 1

Microarray probesets 3

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MGI:2443526

Summaries

All 143

Developmental Gene Expression 28

Gene Ontology 13

Phenotypes 68
Earliest

J:28316 Bouillet P, et al., Efficient cloning of cDNAs of retinoic acid-responsive genes in P19 embryonal carcinoma cells and characterization of a novel mouse gene, Stra1 (mouse LERK-2/Eplg2). Dev Biol. 1995 Aug;170(2):420-33
Latest

J:350433 Lin L, et al., DEC1 deficiency protects against bone loss induced by ovariectomy through inhibiting inflammation. J Biomed Res. 2024 May 25;:1-16

TSS for Bhlhe40:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr58070	Chr6:108635764-108635774 (+)	-1,821 bp
Tssr58071	Chr6:108636625-108636628 (+)	-963 bp
Tssr58072	Chr6:108637395-108637407 (+)	-189 bp
Tssr58073	Chr6:108637441-108637458 (+)	-140 bp
Tssr58074	Chr6:108637480-108637495 (+)	-102 bp
Tssr58075	Chr6:108637577-108637643 (+)	20 bp
Tssr58076	Chr6:108637733-108637748 (+)	151 bp
Tssr58077	Chr6:108637816-108637827 (+)	232 bp
Tssr58078	Chr6:108638708-108638738 (+)	1,133 bp
Tssr58079	Chr6:108638951-108638957 (+)	1,364 bp
Tssr58080	Chr6:108639300-108639304 (+)	1,712 bp
Tssr58081	Chr6:108639731-108639739 (+)	2,145 bp
Tssr58082	Chr6:108640080-108640103 (+)	2,502 bp
Tssr58083	Chr6:108641700-108641711 (+)	4,116 bp
Tssr58084	Chr6:108641974-108642007 (+)	4,401 bp
Tssr58085	Chr6:108642877-108642887 (+)	5,292 bp
Tssr58086	Chr6:108643088-108643112 (+)	5,510 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24