RXFP2
Relaxin receptor 2
Also known as: GPR106, GREAT, INSL3R, LGR8, RXFP2_HUMAN, RXFPR2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8WXD0
- Gene
- RXFP2
- Ensembl
- ENSG00000133105
- Chromosome
- 13
- Canonical length
- 754 aa
- Protein class
- Disease related genes, G-protein coupled receptors, Potential drug targets, Predicted membrane proteins
OverviewNCBI Gene
This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Canonical amino-acid sequenceUniProt
754 residues, UniProt reviewed canonical sequence.
>Q8WXD0|RXFP2
1 MIVFLVFKHL FSLRLITMFF LLHFIVLINV KDFALTQGSM ITPSCQKGYF PCGNLTKCLP
61 RAFHCDGKDD CGNGADEENC GDTSGWATIF GTVHGNANSV ALTQECFLKQ YPQCCDCKET
121 ELECVNGDLK SVPMISNNVT LLSLKKNKIH SLPDKVFIKY TKLKKIFLQH NCIRHISRKA
181 FFGLCNLQIL YLNHNCITTL RPGIFKDLHQ LTWLILDDNP ITRISQRLFT GLNSLFFLSM
241 VNNYLEALPK QMCAQMPQLN WVDLEGNRIK YLTNSTFLSC DSLTVLFLPR NQIGFVPEKT
301 FSSLKNLGEL DLSSNTITEL SPHLFKDLKL LQKLNLSSNP LMYLHKNQFE SLKQLQSLDL
361 ERIEIPNINT RMFQPMKNLS HIYFKNFRYC SYAPHVRICM PLTDGISSFE DLLANNILRI
421 FVWVIAFITC FGNLFVIGMR SFIKAENTTH AMSIKILCCA DCLMGVYLFF VGIFDIKYRG
481 QYQKYALLWM ESVQCRLMGF LAMLSTEVSV LLLTYLTLEK FLVIVFPFSN IRPGKRQTSV
541 ILICIWMAGF LIAVIPFWNK DYFGNFYGKN GVCFPLYYDQ TEDIGSKGYS LGIFLGVNLL
601 AFLIIVFSYI TMFCSIQKTA LQTTEVRNCF GREVAVANRF FFIVFSDAIC WIPVFVVKIL
661 SLFRVEIPDT MTSWIVIFFL PVNSALNPIL YTLTTNFFKD KLKQLLHKHQ RKSIFKIKKK
721 SLSTSIVWIE DSSSLKLGVL NKITLGDSIM KPVSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RXFP2 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)
- 0.3
- Highest tissue expression
- 0.5 nTPM
Expression across tissuesHPA
Tissue
- adrenal gland: 0.5 nTPM
- fallopian tube: 0.5 nTPM
- endometrium: 0.4 nTPM
- basal ganglia: 0.3 nTPM
- bone marrow: 0.3 nTPM
- ovary: 0.2 nTPM
Single-cell type
- late primary spermatocytes: 8 nCPM
- early spermatids: 6.6 nCPM
- brain inhibitory neurons: 4.7 nCPM
- cardiomyocytes: 4.3 nCPM
- platelets: 2.8 nCPM
- other brain neurons: 2.7 nCPM
Immune cell
- classical monocyte: 1.7 nTPM
- total PBMC: 0.3 nTPM
- intermediate monocyte: 0.1 nTPM
- basophil: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- basal ganglia: 1.5 nTPM
- cerebral cortex: 0.8 nTPM
- hypothalamus: 0.8 nTPM
- midbrain: 0.6 nTPM
- thalamus: 0.6 nTPM
- hippocampal formation: 0.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RXFP2.
Disease | AllUniProt
Conditions RXFP2 is implicated in, by any mechanism.
- Cryptorchidism (CRYPTO) MIM:219050
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 134 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
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
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.89
- DepMap mean gene effect
- 0.17
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adenylate cyclase-activating G protein-coupled receptor signaling pathway
- adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway
- hormone-mediated signaling pathway
- male gonad development
- negative regulation of apoptotic process
- negative regulation of cell population proliferation
- oocyte maturation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- G protein-coupled receptor, rhodopsin-like
- Leucine-rich repeat
- Low-density lipoprotein (LDL) receptor class A repeat
- Leucine-rich repeat, typical subtype
- Relaxin receptor
- GPCR, rhodopsin-like, 7TM
- Low-density lipoprotein (LDL) receptor class A, conserved site
- Leucine-rich repeat domain superfamily
- LDL receptor-like superfamily
- 7 transmembrane receptor (rhodopsin family)
- Low-density lipoprotein receptor domain class A
- Leucine rich repeat
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RXFP2 as an antibody target. Whether an autoantibody or antibody against RXFP2 could matter depends on whether native RXFP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RXFP2 is annotated at the cell surface, where native RXFP2 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 RXFP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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