Seroatlas · Human Serome Atlas

REPS2

RalBP1-associated Eps domain-containing protein 2

Also known as: POB1, REPS2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8NFH8
Gene: REPS2
Ensembl: ENSG00000169891
Chromosome: X
Canonical length: 660 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

660 residues, UniProt reviewed canonical sequence.

>Q8NFH8|REPS2
     1  MEAAAAAAAA AAAAAAAGGG CGSGPPPLLL SEGEQQCYSE LFARCAGAAG GGPGSGPPEA
    61  ARVAPGTATA AAGPVADLFR ASQLPAETLH QITELCGAKR VGYFGPTQFY IALKLIAAAQ
   121  SGLPVRIESI KCELPLPRFM MSKNDGEIRF GNPAELHGTK VQIPYLTTEK NSFKRMDDED
   181  KQQETQSPTM SPLASPPSSP PHYQRVPLSH GYSKLRSSAE QMHPAPYEAR QPLVQPEGSS
   241  SGGPGTKPLR HQASLIRSFS VERELQDNSS YPDEPWRITE EQREYYVNQF RSLQPDPSSF
   301  ISGSVAKNFF TKSKLSIPEL SYIWELSDAD CDGALTLPEF CAAFHLIVAR KNGYPLPEGL
   361  PPTLQPEYLQ AAFPKPKWDC QLFDSYSESL PANQQPRDLN RMEKTSVKDM ADLPVPNQDV
   421  TSDDKQALKS TINEALPKDV SEDPATPKDS NSLKARPRSR SYSSTSIEEA MKRGEDPPTP
   481  PPRPQKTHSR ASSLDLNKVF QPSVPATKSG LLPPPPALPP RPCPSQSEQV SEAELLPQLS
   541  RAPSQAAESS PAKKDVLYSQ PPSKPIRRKF RPENQATENQ EPSTAASGPA SAATMKPHPT
   601  VQKQSSKQKK AIQTAIRKNK EANAVLARLN SELQQQLKEV HQERIALENQ LEQLRPVTVL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against REPS2 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): 0.58
Highest tissue expression: 16 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 16 nTPM
cervix: 15 nTPM
epididymis: 12 nTPM
basal ganglia: 12 nTPM
cerebellum: 11 nTPM
adrenal gland: 11 nTPM

Single-cell type

neutrophils: 1,060 nCPM
neutrophil progenitors: 241 nCPM
corticotrophs: 232 nCPM
pituitary stem cells: 230 nCPM
proximal tubule cells: 225 nCPM
retinal bipolar cells: 221 nCPM

Immune cell

neutrophil: 14 nTPM
basophil: 5.8 nTPM
eosinophil: 4.5 nTPM
myeloid DC: 0.5 nTPM
classical monocyte: 0.3 nTPM
plasmacytoid DC: 0.3 nTPM

Brain region

cerebral cortex: 88 nTPM
white matter: 51 nTPM
hypothalamus: 45 nTPM
basal ganglia: 44 nTPM
thalamus: 41 nTPM
hippocampal formation: 37 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): 0.49
gnomAD pLI: 0.2
gnomAD missense Z: 1.31
DepMap mean gene effect: 0.1
DepMap dependency class: none

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 REPS2 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 REPS2 as an antibody target. Whether an autoantibody or antibody against REPS2 could matter depends on whether native REPS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

REPS2 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 REPS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...