Seroatlas · Human Serome Atlas

NR2C1

Nuclear receptor subfamily 2 group C member 1

Also known as: NR2C1_HUMAN, TR2, TR2-11

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P13056
Gene: NR2C1
Ensembl: ENSG00000120798
Chromosome: 12
Canonical length: 603 aa
Protein class: Nuclear receptors, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Cell Junctions,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

603 residues, UniProt reviewed canonical sequence.

>P13056|NR2C1
     1  MATIEEIAHQ IIEQQMGEIV TEQQTGQKIQ IVTALDHNTQ GKQFILTNHD GSTPSKVILA
    61  RQDSTPGKVF LTTPDAAGVN QLFFTTPDLS AQHLQLLTDN SPDQGPNKVF DLCVVCGDKA
   121  SGRHYGAVTC EGCKGFFKRS IRKNLVYSCR GSKDCIINKH HRNRCQYCRL QRCIAFGMKQ
   181  DSVQCERKPI EVSREKSSNC AASTEKIYIR KDLRSPLTAT PTFVTDSEST RSTGLLDSGM
   241  FMNIHPSGVK TESAVLMTSD KAESCQGDLS TLANVVTSLA NLGKTKDLSQ NSNEMSMIES
   301  LSNDDTSLCE FQEMQTNGDV SRAFDTLAKA LNPGESTACQ SSVAGMEGSV HLITGDSSIN
   361  YTEKEGPLLS DSHVAFRLTM PSPMPEYLNV HYIGESASRL LFLSMHWALS IPSFQALGQE
   421  NSISLVKAYW NELFTLGLAQ CWQVMNVATI LATFVNCLHN SLQQDKMSTE RRKLLMEHIF
   481  KLQEFCNSMV KLCIDGYEYA YLKAIVLFSP DHPSLENMEQ IEKFQEKAYV EFQDYITKTY
   541  PDDTYRLSRL LLRLPALRLM NATITEELFF KGLIGNIRID SVIPHILKME PADYNSQIIG
   601  HSI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NR2C1 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: 18 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 18 nTPM
retina: 15 nTPM
skeletal muscle: 13 nTPM
testis: 11 nTPM
thyroid gland: 11 nTPM
fallopian tube: 11 nTPM

Single-cell type

myonuclei: 172 nCPM
leydig cells: 143 nCPM
cardiomyocytes: 125 nCPM
peritubular myoid cells: 120 nCPM
adrenal cortex cells: 116 nCPM
sertoli cells: 98 nCPM

Immune cell

MAIT T-cell: 5 nTPM
naive CD4 T-cell: 4 nTPM
gdT-cell: 3.9 nTPM
myeloid DC: 3.7 nTPM
plasmacytoid DC: 3.6 nTPM
memory CD8 T-cell: 3.3 nTPM

Brain region

cerebellum: 33 nTPM
choroid plexus: 22 nTPM
cerebral cortex: 21 nTPM
white matter: 18 nTPM
pons: 16 nTPM
basal ganglia: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NR2C1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 94 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Flexion contracture

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): 0.38
gnomAD pLI: 0.68
gnomAD missense Z: 1.16
DepMap mean gene effect: -0.14
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NR2C1 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 NR2C1 as an antibody target. Whether an autoantibody or antibody against NR2C1 could matter depends on whether native NR2C1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NR2C1 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 NR2C1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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