Seroatlas · Human Serome Atlas

RFX2

DNA-binding protein RFX2

Also known as: FLJ14226, RFX2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: P48378
Gene: RFX2
Ensembl: ENSG00000087903
Chromosome: 19
Canonical length: 723 aa
Protein class: Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Golgi apparatus,Primary cilium,Basal body,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

723 residues, UniProt reviewed canonical sequence.

>P48378|RFX2
     1  MQNSEGGADS PASVALRPSA AAPPVPASPQ RVLVQAASSN PKGAQMQPIS LPRVQQVPQQ
    61  VQPVQHVYPA QVQYVEGGDA VYTNGAIRTA YTYNPEPQMY APSSTASYFE APGGAQVTVA
   121  ASSPPAVPSH SMVGITMDVG GSPIVSSAGA YLIHGGMDST RHSLAHTSRS SPATLEMAIE
   181  NLQKSEGITS HKSGLLNSHL QWLLDNYETA EGVSLPRSSL YNHYLRHCQE HKLDPVNAAS
   241  FGKLIRSVFM GLRTRRLGTR GNSKYHYYGI RLKPDSPLNR LQEDTQYMAM RQQPMHQKPR
   301  YRPAQKTDSL GDSGSHSGLH STPEQTMAVQ SQHHQQYIDV SHVFPEFPAP DLGSFLLQDG
   361  VTLHDVKALQ LVYRRHCEAT VDVVMNLQFH YIEKLWLSFW NSKASSSDGP TSLPASDEDP
   421  EGAVLPKDKL ISLCQCDPIL RWMRSCDHIL YQALVEILIP DVLRPVPSTL TQAIRNFAKS
   481  LEGWLTNAMS DFPQQVIQTK VGVVSAFAQT LRRYTSLNHL AQAARAVLQN TSQINQMLSD
   541  LNRVDFANVQ EQASWVCQCE ESVVQRLEQD FKLTLQQQSS LDQWASWLDS VVTQVLKQHA
   601  GSPSFPKAAR QFLLKWSFYS SMVIRDLTLR SAASFGSFHL IRLLYDEYMF YLVEHRVAEA
   661  TGETPIAVMG EFNDLASLSL TLLDKDDMGD EQRGSEAGPD ARSLGEPLVK RERSDPNHSL
   721  QGI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RFX2 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): 0.45
Highest tissue expression: 55 nTPM

Expression across tissuesHPA

Tissue

testis: 55 nTPM
fallopian tube: 23 nTPM
choroid plexus: 23 nTPM
colon: 19 nTPM
endometrium: 15 nTPM
skin: 11 nTPM

Single-cell type

respiratory ciliated cells: 733 nCPM
ependymal cells: 667 nCPM
epicardial cells: 585 nCPM
choroid plexus epithelial cells: 551 nCPM
salivary myoepithelial cells: 453 nCPM
neutrophils: 449 nCPM

Immune cell

neutrophil: 24 nTPM
classical monocyte: 2.7 nTPM
myeloid DC: 2.1 nTPM
non-classical monocyte: 1.6 nTPM
eosinophil: 1.1 nTPM
total PBMC: 0.8 nTPM

Brain region

choroid plexus: 73 nTPM
midbrain: 45 nTPM
medulla oblongata: 34 nTPM
spinal cord: 32 nTPM
thalamus: 26 nTPM
cerebellum: 25 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): 0.21
gnomAD pLI: 1
gnomAD missense Z: 2.66
DepMap mean gene effect: -0.09
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RFX2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

FOXJ1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RFX2 as an antibody target. Whether an autoantibody or antibody against RFX2 could matter depends on whether native RFX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RFX2 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 RFX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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