Bhlhe22 MGI Mouse Gene Detail - MGI:1930001 - basic helix-loop-helix family, member e22

Symbol

Bhlhe22
Name

basic helix-loop-helix family, member e22
Synonyms

Beta3, Bhlhb5

Feature Type

protein coding gene
IDs

MGI:1930001
NCBI Gene: 59058
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr3:18108489-18111678 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 4.98 cM, cytoband A2
Mapping Data

3 experiments

SNPs within 2kb

88 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1930001	protein coding gene	Chr3:18108338-18111681 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027087	protein coding gene	Chr3:15225697-15229040 (+)
A/J	MGP_AJ_G0027048	protein coding gene	Chr3:15149943-15153286 (+)
AKR/J	MGP_AKRJ_G0027017	protein coding gene	Chr3:15246301-15249641 (+)
BALB/cJ	MGP_BALBcJ_G0027060	protein coding gene	Chr3:14925960-14929303 (+)
C3H/HeJ	MGP_C3HHeJ_G0026800	protein coding gene	Chr3:15333034-15336377 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027504	protein coding gene	Chr3:16239160-16242503 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024866	protein coding gene	Chr3:13365987-13369335 (+)
CAST/EiJ	MGP_CASTEiJ_G0026256	protein coding gene	Chr3:15269232-15272574 (+)
CBA/J	MGP_CBAJ_G0026778	protein coding gene	Chr3:16557629-16560972 (+)
DBA/2J	MGP_DBA2J_G0026912	protein coding gene	Chr3:14754500-14757843 (+)
FVB/NJ	MGP_FVBNJ_G0026881	protein coding gene	Chr3:14450520-14453863 (+)
LP/J	MGP_LPJ_G0027024	protein coding gene	Chr3:15845758-15849101 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026901	protein coding gene	Chr3:18556032-18559375 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027563	protein coding gene	Chr3:15024880-15028223 (+)
PWK/PhJ	MGP_PWKPhJ_G0025989	protein coding gene	Chr3:14496216-14499558 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025796	protein coding gene	Chr3:14858697-14862036 (+)
WSB/EiJ	MGP_WSBEiJ_G0026329	protein coding gene	Chr3:15095222-15098565 (+)

Human Ortholog

BHLHE22, basic helix-loop-helix family member e22

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BHLHE22, basic helix-loop-helix family member e22
Synonyms

Beta3, Beta3a, BHLHB5, CAGL85, TNRC20
Links

HGNC:11963

NCBI Gene ID: 27319

neXtProt AC: NX_Q8NFJ8

UniProt: Q8NFJ8
Chr Location

8q12.3; chr8:64580365-64583627 (+) GRCh38

MGI Vertebrate Homology

Bhlhe22 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: BHLHE22
Gene Tree

Bhlhe22

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References

1 with disease annotations

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Phenotype Summary

27 phenotypes from 3 alleles in 9 genetic backgrounds
7 phenotypes from multigenic genotypes
26 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

7
Radiation induced

1
Targeted

6
Genomic Mutations

1 involving Bhlhe22
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

12 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mice homozygous for a null mutation are slow to gain weight, develop skin lesions, have reduced numbers of specific subtypes of amacrine and cone bipolar cells, and exhibit abnormal innervation of the corticospinal tract.

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All GO Annotations

29
GO References

8

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

1131
Tissues

312
cDNA Data

12
Literature Summary

101

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase bhlhe22

ZFIN bhlhe22

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All Sequences

32
RefSeq

2
UniProt

2
CCDS

CCDS17253.1

Ensembl

ENSMUSG00000025128 (Evidence)
NCBI Gene

59058

			Length	Strain/Species	Flank
genomic	59058	NCBI Gene Model \| MGI Sequence Detail	3190	C57BL/6J	± kb
transcript	NM_021560	RefSeq \| MGI Sequence Detail	3207	C57BL/6
polypeptide	Q8C6A8	UniProt \| EBI \| MGI Sequence Detail	355	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000004738 class E basic helix-loop-helix protein 22

(term hierarchy)
InterPro Domains

IPR050359 Basic helix-loop-helix transcription factors

IPR036638 Helix-loop-helix DNA-binding domain superfamily

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

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All nucleic 23

Genomic 2

cDNA 14

Primer pair 3

Other 4

Microarray probesets 5

Summaries

All 145

Developmental Gene Expression 101

Diseases 1

Gene Ontology 8

Phenotypes 26
Earliest

J:70677 Cook SA, et al., Mouse paracentric inversion In(3)55Rk mutates the urate oxidase gene. Cytogenet Cell Genet. 2001;93(1-2):77-82
Latest

J:355459 Conrad LJ, et al., The upregulation of K(+) and HCN channels in developing spiral ganglion neurons is mediated by cochlear inner hair cells. J Physiol. 2024 Oct;602(20):5329-5351

TSS for Bhlhe22:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr28492	Chr3:18108314-18108326 (+)	-169 bp
Tssr28493	Chr3:18108397-18108413 (+)	-84 bp
Tssr28494	Chr3:18108422-18108431 (+)	-62 bp
Tssr28495	Chr3:18108556-18108571 (+)	75 bp
Tssr28496	Chr3:18108660-18108679 (+)	181 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 12/17/2024 MGI 6.24