Esrrb MGI Mouse Gene Detail - MGI:1346832 - estrogen related receptor, beta

Symbol

Esrrb
Name

estrogen related receptor, beta
Synonyms

Err2, ERR2, ERRb, Estrrb

Feature Type

protein coding gene
IDs

MGI:1346832
NCBI Gene: 26380
Alliance

gene page
Transcription Start Sites

20 TSS

Sequence Map

Chr12:86407891-86568402 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 40.49 cM
Mapping Data

2 experiments

SNPs within 2kb

4515 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1346832	protein coding gene	Chr12:86407891-86568402 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019970	protein coding gene	Chr12:87197795-87362961 (+)
A/J	MGP_AJ_G0019927	protein coding gene	Chr12:83879682-84049677 (+)
AKR/J	MGP_AKRJ_G0019903	protein coding gene	Chr12:86158342-86325090 (+)
BALB/cJ	MGP_BALBcJ_G0019907	protein coding gene	Chr12:84218523-84383449 (+)
C3H/HeJ	MGP_C3HHeJ_G0019713	protein coding gene	Chr12:86637915-86802496 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020358	protein coding gene	Chr12:89692855-89877957 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017976	protein coding gene	Chr12:80773987-80935599 (+)
CAST/EiJ	MGP_CASTEiJ_G0019263	protein coding gene	Chr12:81631575-81803379 (+)
CBA/J	MGP_CBAJ_G0019684	protein coding gene	Chr12:93141539-93316226 (+)
DBA/2J	MGP_DBA2J_G0019798	protein coding gene	Chr12:83386362-83550260 (+)
FVB/NJ	MGP_FVBNJ_G0019785	protein coding gene	Chr12:82363575-82525441 (+)
LP/J	MGP_LPJ_G0019872	protein coding gene	Chr12:87071687-87238331 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019824	protein coding gene	Chr12:95934372-96110019 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020391	protein coding gene	Chr12:85782367-85949258 (+)
PWK/PhJ	MGP_PWKPhJ_G0019026	protein coding gene	Chr12:77922236-78085949 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018822	protein coding gene	Chr12:80259186-80429096 (+)
WSB/EiJ	MGP_WSBEiJ_G0019315	protein coding gene	Chr12:86515125-86684906 (+)

Human Ortholog

ESRRB, estrogen related receptor beta

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ESRRB, estrogen related receptor beta
Synonyms

DFNB35, ERR2, ERRb, ERR beta-2, ERRbeta2, ESRL2, NR3B2
Links

HGNC:3473

NCBI Gene ID: 2103

neXtProt AC: NX_O95718

UniProt: O95718
Chr Location

14q24.3; chr14:76310712-76501837 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: ESRRB
Protein SuperFamily

ER-like_NR
Gene Tree

Esrrb

Diseases

1 with Esrrb mouse models; 1 with human ESRRB associations

Human Disease

Mouse Models

dilated cardiomyopathy

IDs

View 1 model

autosomal recessive nonsyndromic deafness 35

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

37 phenotypes from 3 alleles in 4 genetic backgrounds
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

171
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

160
Targeted

9
Genomic Mutations

1 involving Esrrb
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

211 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mice homozygous for disruptions in this gene die as embryos around E9.5 or E10.5 as a result of failure of the chorion to develop and subsequent placental defects.

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All GO Annotations

67
GO References

28

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

1115
Tissues

274
cDNA Data

36
Literature Summary

66

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA ESRRB

ZFIN esrrb

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All Sequences

58
RefSeq

10
UniProt

6
CCDS

CCDS26066.2, CCDS49117.1

Ensembl

ENSMUSG00000021255 (Evidence)
NCBI Gene

26380

			Length	Strain/Species	Flank
genomic	26380	NCBI Gene Model \| MGI Sequence Detail	160512	C57BL/6J	± kb
transcript	NM_001159500	RefSeq \| MGI Sequence Detail	4309	ZRU/MplStud
polypeptide	Q61539	UniProt \| EBI \| MGI Sequence Detail	433	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000007209 steroid hormone receptor ERR2

(term hierarchy)
InterPro Domains

IPR024178 Estrogen receptor/oestrogen-related receptor

IPR001723 Nuclear hormone receptor

IPR050200 Nuclear hormone receptor family NR3 subfamily

IPR000536 Nuclear hormone receptor, ligand-binding domain

IPR035500 Nuclear hormone receptor-like domain superfamily

IPR027289 Oestrogen-related receptor

IPR013088 Zinc finger, NHR/GATA-type

IPR001628 Zinc finger, nuclear hormone receptor-type
GlyGen

Q61539 1 site, 1 O-linked glycan (1 site)

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All nucleic 60

Genomic 2

cDNA 37

Primer pair 15

Other 6

Microarray probesets 5

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MGD-MRK-35849, MGI:107382

Summaries

All 137

Developmental Gene Expression 66

Diseases 1

Gene Ontology 28

Phenotypes 26
Earliest

J:31609 Pettersson K, et al., Expression of a novel member of estrogen response element-binding nuclear receptors is restricted to the early stages of chorion formation during mouse embryogenesis. Mech Dev. 1996 Feb;54(2):211-23
Latest

J:355264 Festuccia N, et al., Nr5a2 is dispensable for zygotic genome activation but essential for morula development. Science. 2024 Oct 4;386(6717):eadg7325

TSS for Esrrb:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr114447	Chr12:86407886-86407905 (+)	5 bp
Tssr114448	Chr12:86408204-86408218 (+)	320 bp
Tssr114449	Chr12:86408232-86408243 (+)	347 bp
Tssr114450	Chr12:86408263-86408273 (+)	377 bp
Tssr114451	Chr12:86468377-86468399 (+)	60,497 bp
Tssr114452	Chr12:86468402-86468436 (+)	60,528 bp
Tssr114453	Chr12:86468441-86468446 (+)	60,553 bp
Tssr114454	Chr12:86468449-86468461 (+)	60,564 bp
Tssr114455	Chr12:86468556-86468571 (+)	60,673 bp
Tssr114456	Chr12:86513362-86513370 (+)	105,475 bp
Tssr114457	Chr12:86516883-86516896 (+)	108,999 bp
Tssr114458	Chr12:86516905-86516924 (+)	109,024 bp
Tssr114459	Chr12:86516957-86516968 (+)	109,072 bp
Tssr114460	Chr12:86540551-86540552 (+)	132,661 bp
Tssr114461	Chr12:86551534-86551541 (+)	143,647 bp
Tssr114462	Chr12:86551542-86551565 (+)	143,663 bp
Tssr114463	Chr12:86551824-86551838 (+)	143,940 bp
Tssr114464	Chr12:86566070-86566109 (+)	158,199 bp
Tssr114465	Chr12:86566800-86566838 (+)	158,928 bp
Tssr114466	Chr12:86567330-86567346 (+)	159,447 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)
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