Seroatlas · Human Serome Atlas

RHBDL2

Rhomboid-related protein 2

Also known as: FLJ20435, RHBL2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9NX52
Gene: RHBDL2
Ensembl: ENSG00000158315
Chromosome: 1
Canonical length: 303 aa
Protein class: Enzymes, Predicted membrane proteins

OverviewNCBI Gene

The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]

Canonical amino-acid sequenceUniProt

303 residues, UniProt reviewed canonical sequence.

>Q9NX52|RHBDL2
     1  MAAVHDLEME SMNLNMGREM KEELEEEEKM REDGGGKDRA KSKKVHRIVS KWMLPEKSRG
    61  TYLERANCFP PPVFIISISL AELAVFIYYA VWKPQKQWIT LDTGILESPF IYSPEKREEA
   121  WRFISYMLVH AGVQHILGNL CMQLVLGIPL EMVHKGLRVG LVYLAGVIAG SLASSIFDPL
   181  RYLVGASGGV YALMGGYFMN VLVNFQEMIP AFGIFRLLII ILIIVLDMGF ALYRRFFVPE
   241  DGSPVSFAAH IAGGFAGMSI GYTVFSCFDK ALLKDPRFWI AIAAYLACVL FAVFFNIFLS
   301  PAN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RHBDL2 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): 0.29
Highest tissue expression: 21 nTPM

Expression across tissuesHPA

Tissue

esophagus: 21 nTPM
rectum: 17 nTPM
colon: 17 nTPM
skin: 16 nTPM
stomach: 15 nTPM
spinal cord: 15 nTPM

Single-cell type

esophageal apical cells: 319 nCPM
epicardial cells: 162 nCPM
salivary duct cells: 133 nCPM
urothelial cells: 125 nCPM
cardiomyocytes: 123 nCPM
foveolar cells: 121 nCPM

Immune cell

neutrophil: 1.6 nTPM
basophil: 1.4 nTPM
memory B-cell: 0.7 nTPM
myeloid DC: 0.7 nTPM
plasmacytoid DC: 0.7 nTPM
classical monocyte: 0.6 nTPM

Brain region

white matter: 33 nTPM
medulla oblongata: 32 nTPM
midbrain: 31 nTPM
basal ganglia: 29 nTPM
cerebral cortex: 27 nTPM
thalamus: 26 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): 1.37
gnomAD pLI: 0
gnomAD missense Z: 0.07
DepMap mean gene effect: 0.05
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RHBDL2 as an antibody target. Whether an autoantibody or antibody against RHBDL2 could matter depends on whether native RHBDL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RHBDL2 is annotated at the cell surface, where native RHBDL2 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 RHBDL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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