NR5A2
Nuclear receptor subfamily 5 group A member 2
Also known as: B1F2, FTF, FTZ-F1, FTZ-F1beta, hB1F, hB1F-2, LRH-1, LRH1, NR5A2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O00482
- Gene
- NR5A2
- Ensembl
- ENSG00000116833
- Chromosome
- 1
- Canonical length
- 541 aa
- Protein class
- Nuclear receptors, Predicted intracellular proteins, Transcription factors, Transporters
- Subcellular location
- Nuclear speckles
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
541 residues, UniProt reviewed canonical sequence.
>O00482|NR5A2
1 MSSNSDTGDL QESLKHGLTP IGAGLPDRHG SPIPARGRLV MLPKVETEAL GLARSHGEQG
61 QMPENMQVSQ FKMVNYSYDE DLEELCPVCG DKVSGYHYGL LTCESCKGFF KRTVQNNKRY
121 TCIENQNCQI DKTQRKRCPY CRFQKCLSVG MKLEAVRADR MRGGRNKFGP MYKRDRALKQ
181 QKKALIRANG LKLEAMSQVI QAMPSDLTIS SAIQNIHSAS KGLPLNHAAL PPTDYDRSPF
241 VTSPISMTMP PHGSLQGYQT YGHFPSRAIK SEYPDPYTSS PESIMGYSYM DSYQTSSPAS
301 IPHLILELLK CEPDEPQVQA KIMAYLQQEQ ANRSKHEKLS TFGLMCKMAD QTLFSIVEWA
361 RSSIFFRELK VDDQMKLLQN CWSELLILDH IYRQVVHGKE GSIFLVTGQQ VDYSIIASQA
421 GATLNNLMSH AQELVAKLRS LQFDQREFVC LKFLVLFSLD VKNLENFQLV EGVQEQVNAA
481 LLDYTMCNYP QQTEKFGQLL LRLPEIRAIS MQAEEYLYYK HLNGDVPYNN LLIEMLHAKR
541 ALocalizationUniProt · AlphaFold · HPA
Whether an antibody against NR5A2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 58 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 58 nTPM
- liver: 36 nTPM
- small intestine: 17 nTPM
- duodenum: 16 nTPM
- rectum: 12 nTPM
- colon: 11 nTPM
Single-cell type
- pancreatic acinar cells: 1,502 nCPM
- enterocytes: 458 nCPM
- pancreatic duct cells: 424 nCPM
- cholangiocytes: 289 nCPM
- hepatocytes: 270 nCPM
- colonocytes: 247 nCPM
Immune cell
- basophil: 2.3 nTPM
- neutrophil: 1 nTPM
- NK-cell: 0.5 nTPM
- eosinophil: 0.3 nTPM
- naive B-cell: 0.3 nTPM
- classical monocyte: 0.2 nTPM
Brain region
- hypothalamus: 7.8 nTPM
- pons: 3.2 nTPM
- white matter: 3.1 nTPM
- midbrain: 3 nTPM
- amygdala: 2.8 nTPM
- medulla oblongata: 2.8 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.45
- gnomAD pLI
- 0.24
- gnomAD missense Z
- 1.38
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- acinar cell differentiation
- bile acid metabolic process
- calcineurin-mediated signaling
- cartilage development
- cellular response to leukemia inhibitory factor
- cholesterol homeostasis
- chromatin remodeling
- embryo development ending in birth or egg hatching
- embryonic cleavage
- exocrine pancreas development
- homeostatic process
- hormone-mediated signaling pathway
- inner cell mass cell differentiation
- morula formation
- negative regulation of chondrocyte differentiation
- negative regulation of inflammatory response
- neurogenesis
- pancreas morphogenesis
- positive regulation of DNA-templated transcription
- positive regulation of stem cell differentiation
- positive regulation of T cell activation
- positive regulation of T cell anergy
- positive regulation of T cell proliferation
- positive regulation of tendon cell differentiation
- positive regulation of transcription by RNA polymerase II
- positive regulation of viral genome replication
- primary ovarian follicle growth
- regulation of DNA-templated transcription
- regulation of transcription by RNA polymerase II
- Sertoli cell development
- somatic stem cell population maintenance
- spermatogenesis
- tissue development
- positive regulation of glucocorticoid biosynthetic process
- zygotic genome activation
Molecular functions
- chromatin binding
- DNA binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- nuclear receptor activity
- phospholipid binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- transcription cis-regulatory region binding
- transcription coregulator binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Nuclear hormone receptor, ligand-binding domain
- Zinc finger, nuclear hormone receptor-type
- Nuclear hormone receptor
- Zinc finger, NHR/GATA-type
- Nuclear hormone receptor family 5-like
- Nuclear hormone receptor-like domain superfamily
- Ligand-binding domain of nuclear hormone receptor
- Double treble clef zinc finger, C4 type
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NR5A2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NR5A2 as an antibody target. Whether an autoantibody or antibody against NR5A2 could matter depends on whether native NR5A2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NR5A2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NR5A2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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