Seroatlas · Human Serome Atlas

RHOBTB2

Rho-related BTB domain-containing protein 2

Also known as: DBC2, KIAA0717, RHBT2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9BYZ6
Gene: RHOBTB2
Ensembl: ENSG00000008853
Chromosome: 8
Canonical length: 727 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

Canonical amino-acid sequenceUniProt

727 residues, UniProt reviewed canonical sequence.

>Q9BYZ6|RHOBTB2
     1  MDSDMDYERP NVETIKCVVV GDNAVGKTRL ICARACNATL TQYQLLATHV PTVWAIDQYR
    61  VCQEVLERSR DVVDDVSVSL RLWDTFGDHH KDRRFAYGRS DVVVLCFSIA NPNSLHHVKT
   121  MWYPEIKHFC PRAPVILVGC QLDLRYADLE AVNRARRPLA RPIKPNEILP PEKGREVAKE
   181  LGIPYYETSV VAQFGIKDVF DNAIRAALIS RRHLQFWKSH LRNVQRPLLQ APFLPPKPPP
   241  PIIVVPDPPS SSEECPAHLL EDPLCADVIL VLQERVRIFA HKIYLSTSSS KFYDLFLMDL
   301  SEGELGGPSE PGGTHPEDHQ GHSDQHHHHH HHHHGRDFLL RAASFDVCES VDEAGGSGPA
   361  GLRASTSDGI LRGNGTGYLP GRGRVLSSWS RAFVSIQEEM AEDPLTYKSR LMVVVKMDSS
   421  IQPGPFRAVL KYLYTGELDE NERDLMHIAH IAELLEVFDL RMMVANILNN EAFMNQEITK
   481  AFHVRRTNRV KECLAKGTFS DVTFILDDGT ISAHKPLLIS SCDWMAAMFG GPFVESSTRE
   541  VVFPYTSKSC MRAVLEYLYT GMFTSSPDLD DMKLIILANR LCLPHLVALT EQYTVTGLME
   601  ATQMMVDIDG DVLVFLELAQ FHCAYQLADW CLHHICTNYN NVCRKFPRDM KAMSPENQEY
   661  FEKHRWPPVW YLKEEDHYQR ARKEREKEDY LHLKRQPKRR WLFWNSPSSP SSSAASSSSP
   721  SSSSAVV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RHOBTB2 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.33
Highest tissue expression: 32 nTPM

Expression across tissuesHPA

Tissue

lung: 32 nTPM
cerebral cortex: 27 nTPM
seminal vesicle: 19 nTPM
heart muscle: 18 nTPM
small intestine: 17 nTPM
ovary: 17 nTPM

Single-cell type

alveolar cells type 2: 230 nCPM
alveolar cells type 1: 163 nCPM
epicardial cells: 141 nCPM
transitional alveolar cells: 124 nCPM
podocytes: 89 nCPM
enterocytes: 75 nCPM

Immune cell

naive B-cell: 3.3 nTPM
memory B-cell: 3.2 nTPM
basophil: 2.9 nTPM
NK-cell: 2.9 nTPM
gdT-cell: 1.7 nTPM
plasmacytoid DC: 1.4 nTPM

Brain region

basal ganglia: 91 nTPM
cerebral cortex: 81 nTPM
thalamus: 73 nTPM
hippocampal formation: 69 nTPM
amygdala: 62 nTPM
white matter: 55 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RHOBTB2.

Disease | AllUniProt

Conditions RHOBTB2 is implicated in, by any mechanism.

Developmental and epileptic encephalopathy 64 (DEE64) MIM:618004

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 833 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental and epileptic encephalopathy, 64
Inborn genetic diseases
Seizure
Rett syndrome
Developmental and epileptic encephalopathy

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): 0.5
gnomAD pLI: 0.01
gnomAD missense Z: 2.66
DepMap mean gene effect: -0.01
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 RHOBTB2 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 RHOBTB2 as an antibody target. Whether an autoantibody or antibody against RHOBTB2 could matter depends on whether native RHOBTB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RHOBTB2 is annotated at the cell surface, where native RHOBTB2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label RHOBTB2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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