RXFP2 (relaxin family peptide receptor 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 122042
Gene name Relaxin family peptide receptor 2
Gene symbol RXFP2
Synonyms (NCBI Gene)
GPR106GREATINSL3RLGR8LGR8.1RXFPR2
Chromosome 13
Chromosome location 13q13.1
Summary 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.[pr
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT1323244 hsa-miR-320a CLIP-seq
MIRT1323245 hsa-miR-320b CLIP-seq
MIRT1323246 hsa-miR-320c CLIP-seq
MIRT1323247 hsa-miR-320d CLIP-seq
MIRT1323248 hsa-miR-4429 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
SOX9 Activation 19416188
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001556 Process Oocyte maturation IEA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606655 17318 ENSG00000133105
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WXD0
Protein name Relaxin receptor 2 (G-protein coupled receptor 106) (G-protein coupled receptor affecting testicular descent) (Leucine-rich repeat-containing G-protein coupled receptor 8) (Relaxin family peptide receptor 2)
Protein function Receptor for relaxin. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. May also be a receptor for Leydig insulin-like peptide (INSL3).
PDB 2M96
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00057 Ldl_recept_a 43 → 80 Low-density lipoprotein receptor domain class A Repeat
PF13855 LRR_8 137 → 197 Leucine rich repeat Repeat
PF13855 LRR_8 175 → 221 Leucine rich repeat Repeat
PF13855 LRR_8 281 → 341 Leucine rich repeat Repeat
PF00001 7tm_1 432 → 691 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Expressed mainly in the brain, kidney, muscle, testis, thyroid, uterus, peripheral blood cells and bone marrow.
Sequence 
MIVFLVFKHLFSLRLITMFFLLHFIVLINVKDFALTQGSMITPSCQKGYFPCGNLTKCLP
RAFHCDGKDDCGNGADEENCGDTSGWATIFGTVHGNANSVALTQECFLKQYPQCCDCKET
ELECVNGDLKSVPMISNNVTLLSLKKNKIHSLPDKVFIKYTKLKKIFLQHNCIRHISRKA
FFGLCNLQILYLNHNCITTLRPGIFKDLHQLTWLILDDNPITRISQRLFTGLNSLFFLSM
VNNYLEALPKQMCAQMPQLNWVDLEGNRIKYLTNSTFLSCDSLTVLFLPRNQIGFVPEKT
FSSLKNLGELDLSSNTITELSPHLFKDLKLLQKLNLSSNPLMYLHKNQFESLKQLQSLDL
ERIEIPNINTRMFQPMKNLSHIYFKNFRYCSYAPHVRICMPLTDGISSFEDLLANNILRI
FVWVIAFITCFGNLFVIGMRSFIKAENTTHAMSIKILCCADCLMGVYLFFVGIFDIKYRG
QYQKYALLWMESVQCRLMGFLAMLSTEVSVLLLTYLTLEKFLVIVFPFSNIRPGKRQTSV
ILICIWMAGFLIAVIPFWNKDYFGNFYGKNGVCFPLYYDQTEDIGSKGYSLGIFLGVNLL
AFLIIVFSYITMFCSIQKTALQTTEVRNCFGREVAVANRFFFIVFSDAICWIPVFVVKIL
SLFRVEIPDTMTSWIVIFFLPVNSALNPILYTLTTNFFKDKLKQLLHKHQRKSIFKIKKK
SLSTSIVWIEDSSSLKLGVLNKITLGDSIMKPVS
Sequence length 754
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
Relaxin signaling pathway 		  G alpha (s) signalling events
Relaxin receptors
ADORA2B mediated anti-inflammatory cytokines production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Bilateral cryptorchidism Pathogenic; Likely pathogenic rs2500590568, rs2500579479 RCV003127202
RCV003127203
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (16)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cryptorchidism Conflicting classifications of pathogenicity ClinVar
Disgenet, GenCC
Disgenet, GenCC
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Show/Hide Text Mining Associations (26)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 12684664
★★★★★
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 38430325 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bilateral Cryptorchidism Cryptorchidism BEFREE 14656401, 21147849
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C-cell hyperplasia of thyroid Thyroid Hyperplasia BEFREE 15956746
★★★★★
★☆☆☆☆
Found in Text Mining only
Cirrhosis Cirrhosis BEFREE 17214975
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 25197382 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cryptorchidism Cryptorchidism UNIPROT_DG 12217959
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Cryptorchidism Cryptorchidism BEFREE 12970298, 14656401, 15353080, 15533513, 15579790, 15705294, 16687567, 16926383, 17028442, 18073304, 18772597, 19416188, 19416190, 20636340, 20980787
View all (4 more)
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Cryptorchidism Cryptorchidism Pubtator 16926383, 26209787, 31167797, 38430325 Associate
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Cryptorchidism Cryptorchidism LHGDN 18073304
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)