Nr5a2 MGI Mouse Gene Detail - MGI:1346834 - nuclear receptor subfamily 5, group A, member 2

Symbol

Nr5a2
Name

nuclear receptor subfamily 5, group A, member 2
Synonyms

D1Ertd308e, Ftf, LRH-1, UF2-H3B

Feature Type

protein coding gene
IDs

MGI:1346834
NCBI Gene: 26424
Alliance

gene page
Transcription Start Sites

15 TSS

Sequence Map

Chr1:136770309-136888186 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 59.98 cM, cytoband E4
Mapping Data

4 experiments

SNPs within 2kb

3916 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1346834	protein coding gene	Chr1:136770300-136888186 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016544	protein coding gene	Chr1:140727830-140864494 (-)
A/J	MGP_AJ_G0016527	protein coding gene	Chr1:135361200-135480500 (-)
AKR/J	MGP_AKRJ_G0016492	protein coding gene	Chr1:139409747-139534514 (-)
BALB/cJ	MGP_BALBcJ_G0016487	protein coding gene	Chr1:135704103-135825871 (-)
C3H/HeJ	MGP_C3HHeJ_G0016313	protein coding gene	Chr1:139501801-139625330 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0016948	protein coding gene	Chr1:145743095-145872907 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014659	protein coding gene	Chr1:128458639-128581144 (-)
CAST/EiJ	MGP_CASTEiJ_G0015893	protein coding gene	Chr1:138638436-138775650 (-)
CBA/J	MGP_CBAJ_G0016286	protein coding gene	Chr1:150796974-150922340 (-)
DBA/2J	MGP_DBA2J_G0016392	protein coding gene	Chr1:134352384-134472557 (-)
FVB/NJ	MGP_FVBNJ_G0016391	protein coding gene	Chr1:133001767-133120808 (-)
LP/J	MGP_LPJ_G0016463	protein coding gene	Chr1:141921661-142044758 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016416	protein coding gene	Chr1:156422357-156549369 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016984	protein coding gene	Chr1:139176151-139297342 (-)
PWK/PhJ	MGP_PWKPhJ_G0015679	protein coding gene	Chr1:133418026-133537232 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015466	protein coding gene	Chr1:138161145-138280758 (-)
WSB/EiJ	MGP_WSBEiJ_G0015956	protein coding gene	Chr1:139202536-139329367 (-)

Human Ortholog

NR5A2, nuclear receptor subfamily 5 group A member 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NR5A2, nuclear receptor subfamily 5 group A member 2
Synonyms

B1F, B1F2, CPF, FTF, FTZ-F1, FTZ-F1beta, hB1F-2, LRH-1, LRH1
Links

HGNC:7984

NCBI Gene ID: 2494

neXtProt AC: NX_O00482

UniProt: O00482
Chr Location

1q32.1; chr1:200027614-200177420 (+) GRCh38

MGI Vertebrate Homology

Nr5a2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NR5A2
Protein SuperFamily

Nuc_orph_FTZ-F1
Gene Tree

Nr5a2

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Phenotype Summary

37 phenotypes from 6 alleles in 10 genetic backgrounds
10 phenotypes from multigenic genotypes
59 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

82
Chemically induced (other)

2
Endonuclease-mediated

4
Gene trapped

66
Radiation induced

1
Targeted

9
Genomic Mutations

3 involving Nr5a2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

96 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for disruptions in this gene die around embryonic day 7.5. Heterozygotes are essentially normal but with lower plasma cholesterol, increased bile acids, and shorter intestinal crypt length.

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All GO Annotations

49
GO References

19

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

1151
Tissues

264
cDNA Data

13
Literature Summary

49

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nr5a2

ZFIN nr5a2

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All Sequences

56
RefSeq

8
UniProt

5
CCDS

CCDS15328.1, CCDS48382.1

Ensembl

ENSMUSG00000026398 (Evidence)
NCBI Gene

26424

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026398	Ensembl Gene Model \| MGI Sequence Detail	117878	C57BL/6J	± kb
transcript	ENSMUST00000027649	Ensembl \| MGI Sequence Detail	4733	Not Applicable
polypeptide	ENSMUSP00000027649	Ensembl \| MGI Sequence Detail	560	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000011412 nuclear receptor subfamily 5 group A member 2

(term hierarchy)
PDB

1PK5, 1ZH7, 3F5C
InterPro Domains

IPR001723 Nuclear hormone receptor

IPR016355 Nuclear hormone receptor family 5-like

IPR000536 Nuclear hormone receptor, ligand-binding domain

IPR035500 Nuclear hormone receptor-like domain superfamily

IPR013088 Zinc finger, NHR/GATA-type

IPR001628 Zinc finger, nuclear hormone receptor-type

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All nucleic 30

Genomic 2

cDNA 14

Primer pair 14

Microarray probesets 5

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MGI:1098732, MGI:1203501, MGI:2684066

Summaries

All 157

Developmental Gene Expression 49

Gene Ontology 19

Phenotypes 59
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
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 Nr5a2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr13962	Chr1:136888273-136888291 (-)	-96 bp
Tssr13961	Chr1:136888237-136888266 (-)	-66 bp
Tssr13960	Chr1:136888209-136888232 (-)	-35 bp
Tssr13959	Chr1:136881338-136881343 (-)	6,845 bp
Tssr13958	Chr1:136881264-136881309 (-)	6,899 bp
Tssr13957	Chr1:136877329-136877337 (-)	10,853 bp
Tssr13956	Chr1:136877317-136877322 (-)	10,866 bp
Tssr13955	Chr1:136877278-136877290 (-)	10,902 bp
Tssr13954	Chr1:136877240-136877264 (-)	10,934 bp
Tssr13953	Chr1:136877208-136877235 (-)	10,964 bp
Tssr13952	Chr1:136877170-136877199 (-)	11,001 bp
Tssr13951	Chr1:136876909-136876927 (-)	11,268 bp
Tssr13950	Chr1:136873937-136873943 (-)	14,246 bp
Tssr13949	Chr1:136870041-136870043 (-)	18,144 bp
Tssr13948	Chr1:136857037-136857048 (-)	31,143 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