Seroatlas · Human Serome Atlas

RHBDD2

Rhomboid domain-containing protein 2

Also known as: NPD007, RHBD2_HUMAN, RHBDL7

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

Protein identityUniProt · HPA

UniProt accession: Q6NTF9
Gene: RHBDD2
Ensembl: ENSG00000005486
Chromosome: 7
Canonical length: 364 aa
Protein class: Enzymes, Predicted membrane proteins, Transporters
Subcellular location: Golgi apparatus

OverviewNCBI Gene

The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]

Canonical amino-acid sequenceUniProt

364 residues, UniProt reviewed canonical sequence.

>Q6NTF9|RHBDD2
     1  MAASGPGCRS WCLCPEVPSA TFFTALLSLL VSGPRLFLLQ QPLAPSGLTL KSEALRNWQV
    61  YRLVTYIFVY ENPISLLCGA IIIWRFAGNF ERTVGTVRHC FFTVIFAIFS AIIFLSFEAV
   121  SSLSKLGEVE DARGFTPVAF AMLGVTTVRS RMRRALVFGM VVPSVLVPWL LLGASWLIPQ
   181  TSFLSNVCGL SIGLAYGLTY CYSIDLSERV ALKLDQTFPF SLMRRISVFK YVSGSSAERR
   241  AAQSRKLNPV PGSYPTQSCH PHLSPSHPVS QTQHASGQKL ASWPSCTPGH MPTLPPYQPA
   301  SGLCYVQNHF GPNPTSSSVY PASAGTSLGI QPPTPVNSPG TVYSGALGTP GAAGSKESSR
   361  VPMP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RHBDD2 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: Other membrane
Secreted: No
Transmembrane segments: 5
Mean surface accessibility (rSASA): 0.46
Highest tissue expression: 357 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 357 nTPM
hypothalamus: 349 nTPM
basal ganglia: 330 nTPM
pituitary gland: 294 nTPM
hippocampal formation: 264 nTPM
cerebral cortex: 248 nTPM

Single-cell type

late spermatids: 531 nCPM
late primary spermatocytes: 179 nCPM
early spermatids: 166 nCPM
epididymal principal cells: 161 nCPM
mast cells: 144 nCPM
other brain neurons: 119 nCPM

Immune cell

basophil: 401 nTPM
T-reg: 127 nTPM
neutrophil: 105 nTPM
memory CD4 T-cell: 89 nTPM
gdT-cell: 80 nTPM
eosinophil: 79 nTPM

Brain region

hypothalamus: 560 nTPM
pons: 342 nTPM
midbrain: 295 nTPM
hippocampal formation: 294 nTPM
cerebral cortex: 286 nTPM
basal ganglia: 276 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): 0.53
gnomAD pLI: 0.64
gnomAD missense Z: 0.67
DepMap mean gene effect: -0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RHBDD2 as an antibody target. Whether an autoantibody or antibody against RHBDD2 could matter depends on whether native RHBDD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RHBDD2 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 RHBDD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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