Seroatlas · Human Serome Atlas

RHBDF2

Inactive rhomboid protein 2

Also known as: FLJ22341, iRhom2, RHBDL5, RHBDL6, RHDF2_HUMAN, TOC, TOCG

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

Protein identityUniProt · HPA

UniProt accession: Q6PJF5
Gene: RHBDF2
Ensembl: ENSG00000129667
Chromosome: 17
Canonical length: 856 aa
Protein class: Disease related genes, Enzymes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

Predicted to enable protein transporter activity. Predicted to be involved in negative regulation of protein secretion and regulation of epidermal growth factor receptor signaling pathway. Predicted to act upstream of or within protein localization to plasma membrane and regulation of metalloendopeptidase activity. Located in plasma membrane. Implicated in palmoplantar keratoderma-esophageal carcinoma syndrome. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

856 residues, UniProt reviewed canonical sequence.

>Q6PJF5|RHBDF2
     1  MASADKNGGS VSSVSSSRLQ SRKPPNLSIT IPPPEKETQA PGEQDSMLPE GFQNRRLKKS
    61  QPRTWAAHTT ACPPSFLPKR KNPAYLKSVS LQEPRSRWQE SSEKRPGFRR QASLSQSIRK
   121  GAAQWFGVSG DWEGQRQQWQ RRSLHHCSMR YGRLKASCQR DLELPSQEAP SFQGTESPKP
   181  CKMPKIVDPL ARGRAFRHPE EMDRPHAPHP PLTPGVLSLT SFTSVRSGYS HLPRRKRMSV
   241  AHMSLQAAAA LLKGRSVLDA TGQRCRVVKR SFAFPSFLEE DVVDGADTFD SSFFSKEEMS
   301  SMPDDVFESP PLSASYFRGI PHSASPVSPD GVQIPLKEYG RAPVPGPRRG KRIASKVKHF
   361  AFDRKKRHYG LGVVGNWLNR SYRRSISSTV QRQLESFDSH RPYFTYWLTF VHVIITLLVI
   421  CTYGIAPVGF AQHVTTQLVL RNKGVYESVK YIQQENFWVG PSSIDLIHLG AKFSPCIRKD
   481  GQIEQLVLRE RDLERDSGCC VQNDHSGCIQ TQRKDCSETL ATFVKWQDDT GPPMDKSDLG
   541  QKRTSGAVCH QDPRTCEEPA SSGAHIWPDD ITKWPICTEQ ARSNHTGFLH MDCEIKGRPC
   601  CIGTKGSCEI TTREYCEFMH GYFHEEATLC SQVHCLDKVC GLLPFLNPEV PDQFYRLWLS
   661  LFLHAGVVHC LVSVVFQMTI LRDLEKLAGW HRIAIIFILS GITGNLASAI FLPYRAEVGP
   721  AGSQFGLLAC LFVELFQSWP LLERPWKAFL NLSAIVLFLF ICGLLPWIDN IAHIFGFLSG
   781  LLLAFAFLPY ITFGTSDKYR KRALILVSLL AFAGLFAALV LWLYIYPINW PWIEHLTCFP
   841  FTSRFCEKYE LDQVLH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RHBDF2 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: 7
Mean surface accessibility (rSASA): 0.44
Highest tissue expression: 36 nTPM

Expression across tissuesHPA

Tissue

spleen: 36 nTPM
appendix: 29 nTPM
bone marrow: 28 nTPM
lymph node: 26 nTPM
skin: 24 nTPM
small intestine: 22 nTPM

Single-cell type

microglia: 321 nCPM
macrophages: 139 nCPM
monocytes: 133 nCPM
b-cells: 113 nCPM
innate lymphoid cells: 89 nCPM
hofbauer cells: 85 nCPM

Immune cell

classical monocyte: 14 nTPM
intermediate monocyte: 13 nTPM
memory B-cell: 13 nTPM
non-classical monocyte: 12 nTPM
neutrophil: 10 nTPM
plasmacytoid DC: 10 nTPM

Brain region

thalamus: 82 nTPM
white matter: 79 nTPM
medulla oblongata: 74 nTPM
spinal cord: 63 nTPM
pons: 61 nTPM
midbrain: 53 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RHBDF2.

Disease | AllUniProt

Conditions RHBDF2 is implicated in, by any mechanism.

Tylosis with esophageal cancer (TOC) MIM:148500

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 534 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Palmoplantar keratoderma-esophageal carcinoma syndrome

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): 0.51
gnomAD pLI: 0
gnomAD missense Z: 1.79
DepMap mean gene effect: -0.15
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 RHBDF2 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 RHBDF2 as an antibody target. Whether an autoantibody or antibody against RHBDF2 could matter depends on whether native RHBDF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RHBDF2 is annotated at the cell surface, where native RHBDF2 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 RHBDF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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