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Aliases for NR5A2 Gene

Aliases for NR5A2 Gene

  • Nuclear Receptor Subfamily 5 Group A Member 2 2 3 5
  • CYP7A Promoter-Binding Factor 3 4
  • LRH-1 3 4
  • FTF 3 4
  • B1F 3 4
  • CPF 3 4
  • B1-Binding Factor, Hepatocyte Transcription Factor Which Activates Enhancer II Of Hepatitis B Virus 3
  • Nuclear Receptor Subfamily 5, Group A, Member 2 2
  • Fetoprotein-Alpha 1 (AFP) Transcription Factor 3
  • Liver Nuclear Receptor Homolog-1 Variant 2 3
  • Alpha-1-Fetoprotein Transcription Factor 4
  • Hepatocytic Transcription Factor HB1F-3 3
  • Hepatocytic Transcription Factor 4
  • Liver Receptor Homolog-1 2
  • Liver Receptor Homolog 1 4
  • B1-Binding Factor 4
  • FTZ-F1beta 3
  • FTZ-F1 3
  • HB1F-2 3
  • B1F2 3
  • LRH1 3
  • HB1F 4

External Ids for NR5A2 Gene

Previous HGNC Symbols for NR5A2 Gene

  • FTF

Previous GeneCards Identifiers for NR5A2 Gene

  • GC01P197726
  • GC01P195455
  • GC01P196463
  • GC01P197285
  • GC01P196728
  • GC01P198263
  • GC01P171163

Summaries for NR5A2 Gene

Entrez Gene Summary for NR5A2 Gene

  • The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]

GeneCards Summary for NR5A2 Gene

NR5A2 (Nuclear Receptor Subfamily 5 Group A Member 2) is a Protein Coding gene. Diseases associated with NR5A2 include Hepatitis B and Hepatitis. Among its related pathways are Gene Expression and Developmental Biology. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is NR5A1.

UniProtKB/Swiss-Prot for NR5A2 Gene

  • Binds to the sequence element 5-AACGACCGACCTTGAG-3 of the enhancer II of hepatitis B virus genes, a critical cis-element of their expression and regulation. May be responsible for the liver-specific activity of enhancer II, probably in combination with other hepatocyte transcription factors. Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver. May also contribute to the regulation of pancreas-specific genes and play important roles in embryonic development.

Gene Wiki entry for NR5A2 Gene

Additional gene information for NR5A2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NR5A2 Gene

Genomics for NR5A2 Gene

GeneHancer (GH) Regulatory Elements for NR5A2 Gene

Promoters and enhancers for NR5A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I200038 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 554.7 +14.7 14716 8.4 MLX ZNF133 ARID4B SIN3A ZNF48 YY1 GLIS2 ZNF213 SP3 RXRA NR5A2 RNU6-570P
GH01I200026 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.4 1377 4.6 ZNF76 SIN3A ZNF2 RAD21 YY1 ZEB1 ZNF335 SCRT2 KLF13 ZNF362 NR5A2 RNU6-570P
GH01I199976 Enhancer 1 Ensembl ENCODE 10.7 -50.4 -50429 1.7 MAX BMI1 BATF IRF4 RAD21 YY1 POLR2A ATF7 ZSCAN29 BCLAF1 RNU6-716P RNU6-609P NR5A2 GC01M199906 GC01M200009
GH01I200101 Enhancer 0.9 FANTOM5 ENCODE 5.6 +78.0 77981 8.4 DPF2 MNT ATF2 RFX5 FOXA1 ZNF217 ZNF121 ZNF335 PRDM6 GATA3 RNU6-570P KIF14 NR5A2 GC01P200079 LOC100420255
GH01I200047 Enhancer 1 Ensembl ENCODE dbSUPER 4.6 +21.2 21236 3.4 FOXA2 MAX SIN3A ATF2 FOXA1 SP1 POLR2A CREB1 POU5F1 NR5A2 RNU6-570P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NR5A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NR5A2 gene promoter:

Genomic Locations for NR5A2 Gene

Genomic Locations for NR5A2 Gene
chr1:200,027,602-200,177,424
(GRCh38/hg38)
Size:
149,823 bases
Orientation:
Plus strand
chr1:199,996,730-200,146,552
(GRCh37/hg19)

Genomic View for NR5A2 Gene

Genes around NR5A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR5A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR5A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR5A2 Gene

Proteins for NR5A2 Gene

  • Protein details for NR5A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00482-NR5A2_HUMAN
    Recommended name:
    Nuclear receptor subfamily 5 group A member 2
    Protein Accession:
    O00482
    Secondary Accessions:
    • B4E2P3
    • O95642
    • Q147U3

    Protein attributes for NR5A2 Gene

    Size:
    541 amino acids
    Molecular mass:
    61331 Da
    Quaternary structure:
    • Binds DNA as a monomer (By similarity). Interacts with GRIP1, NCOA2 and NR0B2.

    Three dimensional structures from OCA and Proteopedia for NR5A2 Gene

    Alternative splice isoforms for NR5A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR5A2 Gene

Post-translational modifications for NR5A2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for NR5A2 Gene

Domains & Families for NR5A2 Gene

Gene Families for NR5A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Graphical View of Domain Structure for InterPro Entry

O00482

UniProtKB/Swiss-Prot:

NR5A2_HUMAN :
  • Belongs to the nuclear hormone receptor family. NR5 subfamily.
Family:
  • Belongs to the nuclear hormone receptor family. NR5 subfamily.
genes like me logo Genes that share domains with NR5A2: view

Function for NR5A2 Gene

Molecular function for NR5A2 Gene

GENATLAS Biochemistry:
nuclear receptor subfamily 5,group A,member 2,orphan nuclear receptor,expressed in liver,yolk sac,intestine,pancreas,activating the alpha 1 fetoprotein gene in early differentiating hepatocytes
UniProtKB/Swiss-Prot Function:
Binds to the sequence element 5-AACGACCGACCTTGAG-3 of the enhancer II of hepatitis B virus genes, a critical cis-element of their expression and regulation. May be responsible for the liver-specific activity of enhancer II, probably in combination with other hepatocyte transcription factors. Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver. May also contribute to the regulation of pancreas-specific genes and play important roles in embryonic development.

Phenotypes From GWAS Catalog for NR5A2 Gene

Gene Ontology (GO) - Molecular Function for NR5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding ISS --
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IDA 16289203
genes like me logo Genes that share ontologies with NR5A2: view
genes like me logo Genes that share phenotypes with NR5A2: view

Animal Models for NR5A2 Gene

MGI Knock Outs for NR5A2:

Animal Model Products

Targeted motifs for NR5A2 Gene
HOMER Transcription Factor Regulatory Elements motif NR5A2
  • Consensus sequence: TTCAAGGTCA Submotif: canonical Cell Type: mES GEO ID: GSE19019
  • Consensus sequence: BTCAAGGTCA Submotif: canonical Cell Type: Pancreas GEO ID: GSE34295

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for NR5A2 Gene

Localization for NR5A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR5A2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NR5A2 gene
Compartment Confidence
nucleus 5
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NR5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 15143342
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 15205472
GO:0090575 RNA polymerase II transcription factor complex IBA,ISS --
genes like me logo Genes that share ontologies with NR5A2: view

Pathways & Interactions for NR5A2 Gene

genes like me logo Genes that share pathways with NR5A2: view

Pathways by source for NR5A2 Gene

SIGNOR curated interactions for NR5A2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for NR5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 16289203
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0008206 bile acid metabolic process IEA --
GO:0009755 hormone-mediated signaling pathway IBA --
genes like me logo Genes that share ontologies with NR5A2: view

Drugs & Compounds for NR5A2 Gene

(9) Drugs for NR5A2 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
DLPC Pharma LRH-1 agonist ligand 0

(8) Additional Compounds for NR5A2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for NR5A2 Gene

Compound Action Cas Number
DLPC LRH-1 agonist ligand 18194-25-7
genes like me logo Genes that share compounds with NR5A2: view

Drug Products

Transcripts for NR5A2 Gene

Unigene Clusters for NR5A2 Gene

Nuclear receptor subfamily 5, group A, member 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NR5A2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: - - -
SP2: - - - -
SP3:
SP4: -

Relevant External Links for NR5A2 Gene

GeneLoc Exon Structure for
NR5A2
ECgene alternative splicing isoforms for
NR5A2

Expression for NR5A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NR5A2 Gene

mRNA differential expression in normal tissues according to GTEx for NR5A2 Gene

This gene is overexpressed in Pancreas (x19.1) and Liver (x8.5).

Protein differential expression in normal tissues from HIPED for NR5A2 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NR5A2 Gene



Protein tissue co-expression partners for NR5A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NR5A2 Gene:

NR5A2

SOURCE GeneReport for Unigene cluster for NR5A2 Gene:

Hs.33446

mRNA Expression by UniProt/SwissProt for NR5A2 Gene:

O00482-NR5A2_HUMAN
Tissue specificity: Abundantly expressed in pancreas, less in liver, very low levels in heart and lung. Expressed in the Hep-G2 cell line. Isoform 1 and isoform 2 seem to be present in fetal and adult liver and Hep-G2 cells.

Evidence on tissue expression from TISSUES for NR5A2 Gene

  • Liver(4.6)
  • Intestine(2.5)
  • Pancreas(2.5)
  • Nervous system(2.3)
  • Adrenal gland(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with NR5A2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for NR5A2 Gene

Orthologs for NR5A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NR5A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NR5A2 33 34
  • 99.94 (n)
oppossum
(Monodelphis domestica)
Mammalia NR5A2 34
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR5A2 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NR5A2 33 34
  • 92.59 (n)
cow
(Bos Taurus)
Mammalia NR5A2 34 33
  • 88.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nr5a2 16 33 34
  • 86.83 (n)
rat
(Rattus norvegicus)
Mammalia Nr5a2 33
  • 86.52 (n)
chicken
(Gallus gallus)
Aves NR5A2 33 34
  • 86.76 (n)
lizard
(Anolis carolinensis)
Reptilia NR5A2 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nr5a2 33
  • 78.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12129 33
zebrafish
(Danio rerio)
Actinopterygii nr5a2 33 34
  • 74.87 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11635 33
fruit fly
(Drosophila melanogaster)
Insecta ftz-f1 35 34
  • 80 (a)
Hr39 35
  • 51 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005661 33
  • 56.34 (n)
worm
(Caenorhabditis elegans)
Secernentea nhr-25 35
  • 74 (a)
nhr-236 34
  • 25 (a)
ManyToMany
nhr-111 34
  • 24 (a)
ManyToMany
nhr-91 34
  • 24 (a)
ManyToMany
nhr-14 34
  • 23 (a)
ManyToMany
nhr-239 34
  • 22 (a)
ManyToMany
nhr-3 34
  • 21 (a)
ManyToMany
nhr-38 34
  • 21 (a)
ManyToMany
nhr-49 34
  • 21 (a)
ManyToMany
nhr-1 34
  • 20 (a)
ManyToMany
nhr-10 34
  • 20 (a)
ManyToMany
nhr-101 34
  • 20 (a)
ManyToMany
nhr-118 34
  • 20 (a)
ManyToMany
nhr-17 34
  • 20 (a)
ManyToMany
fax-1 34
  • 19 (a)
ManyToMany
nhr-114 34
  • 19 (a)
ManyToMany
nhr-138 34
  • 19 (a)
ManyToMany
nhr-32 34
  • 19 (a)
ManyToMany
nhr-68 34
  • 19 (a)
ManyToMany
nhr-97 34
  • 19 (a)
ManyToMany
nhr-100 34
  • 18 (a)
ManyToMany
nhr-31 34
  • 18 (a)
ManyToMany
nhr-61 34
  • 18 (a)
ManyToMany
nhr-67 34
  • 18 (a)
ManyToMany
nhr-258 34
  • 17 (a)
ManyToMany
nhr-120 34
  • 16 (a)
ManyToMany
nhr-21 34
  • 16 (a)
ManyToMany
nhr-34 34
  • 16 (a)
ManyToMany
nhr-4 34
  • 16 (a)
ManyToMany
nhr-40 34
  • 16 (a)
ManyToMany
nhr-47 34
  • 16 (a)
ManyToMany
nhr-2 34
  • 15 (a)
ManyToMany
nhr-62 34
  • 15 (a)
ManyToMany
nhr-88 34
  • 15 (a)
ManyToMany
nhr-277 34
  • 14 (a)
ManyToMany
nhr-7 34
  • 14 (a)
ManyToMany
nhr-71 34
  • 14 (a)
ManyToMany
nhr-46 34
  • 13 (a)
ManyToMany
daf-12 34
  • 12 (a)
ManyToMany
nhr-119 34
  • 12 (a)
ManyToMany
nhr-5 34
  • 12 (a)
ManyToMany
nhr-48 34
  • 10 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToOne
Species where no ortholog for NR5A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NR5A2 Gene

ENSEMBL:
Gene Tree for NR5A2 (if available)
TreeFam:
Gene Tree for NR5A2 (if available)

Paralogs for NR5A2 Gene

Variants for NR5A2 Gene

Sequence variations from dbSNP and Humsavar for NR5A2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs139624279 likely-benign, Anophthalmia - microphthalmia 200,048,592(+) C/T coding_sequence_variant, missense_variant
rs774872040 likely-benign, Long QT syndrome 200,048,760(+) A/T coding_sequence_variant, missense_variant
rs76894039 benign, not specified 200,111,337(+) AAAAAAAAAAAAAAA/AAAAAAAAAAAAA/AAAAAAAAAAAAAA/AAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAA intron_variant
rs1000006451 -- 200,082,291(+) A/C intron_variant
rs1000009310 -- 200,129,200(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NR5A2 Gene

Variant ID Type Subtype PubMed ID
dgv135e212 CNV loss 25503493
esv2668931 CNV deletion 23128226
esv3349022 CNV insertion 20981092
esv3578370 CNV loss 25503493
esv3588552 CNV loss 21293372
esv3588554 CNV loss 21293372
nsv1113210 CNV deletion 24896259
nsv1122441 CNV deletion 24896259
nsv1159873 CNV deletion 26073780
nsv161112 CNV deletion 16902084
nsv437265 CNV loss 16327808
nsv506972 OTHER sequence alteration 20534489
nsv947463 CNV duplication 23825009

Variation tolerance for NR5A2 Gene

Residual Variation Intolerance Score: 11.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.57; 44.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NR5A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR5A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR5A2 Gene

Disorders for NR5A2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NR5A2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hepatitis b
  • chronic hepatitis b
hepatitis
  • hepatitis a
testicular leydig cell tumor
  • testicular leydig cell neoplasm
reproductive organ benign neoplasm
glossopharyngeal neuralgia
  • glossovasopharyngeal neuralgia
- elite association - COSMIC cancer census association via MalaCards
Search NR5A2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NR5A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NR5A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NR5A2 Gene

Publications for NR5A2 Gene

  1. Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1. (PMID: 15707893) Krylova IN … Ingraham HA (Cell 2005) 3 4 22 58
  2. The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1. (PMID: 15897460) Wang W … West BL (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 22 58
  3. Characterization of the genomic structure and tissue-specific promoter of the human nuclear receptor NR5A2 (hB1F) gene. (PMID: 11595170) Zhang CK … Wang Y (Gene 2001) 3 4 22 58
  4. Assignment of the fetoprotein transcription factor gene (FTF) to human chromosome band 1q32.11 by in situ hybridization. (PMID: 9858833) Galarneau L … Bélanger L (Cytogenetics and cell genetics 1998) 2 3 4 58
  5. Cloning and characterization of a novel human hepatocyte transcription factor, hB1F, which binds and activates enhancer II of hepatitis B virus. (PMID: 9786908) Li M … Wang Y (The Journal of biological chemistry 1998) 3 4 22 58

Products for NR5A2 Gene

Sources for NR5A2 Gene

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