RLN3 (relaxin 3)

Gene

• Entrez ID: 117579
• Gene name: Relaxin 3
• Gene symbol: RLN3
• Synonyms (NCBI Gene): H3, RXN3, ZINS4, insl7
• Chromosome: 19
• Chromosome location: 19p13.12
• Summary: This gene encodes a member of the relaxin family of insulin-like hormones that is expressed predominantly in the brain and plays a role in physiological processes such as stress, memory and appetite regulation. The encoded protein is a precursor that is p

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IBA
GO:0001664	Function	G protein-coupled receptor binding	IEA
GO:0005179	Function	Hormone activity	IEA
GO:0005515	Function	Protein binding	IPI	24802387
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0007165	Process	Signal transduction	IEA

Other IDs

• MIM: 606855
• HGNC: 17135
• e!Ensembl: ENSG00000171136

Protein

• UniProt ID: Q8WXF3
• Protein name: Relaxin-3 (Insulin-like peptide INSL7) (Insulin-like peptide 7) (Prorelaxin H3) [Cleaved into: Relaxin-3 B chain; Relaxin-3 A chain]
• Protein function: May play a role in neuropeptide signaling processes. Ligand for LGR7, RXFP3 and RXFP4.
• PDB: 2FHW, 2K1V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00049	Insulin	32 → 142	Insulin/IGF/Relaxin family	Domain

• Sequence:

  MARYMLLLLLAVWVLTGELWPGAEARAAPYGVRLCGREFIRAVIFTCGGSRWRRSDILAH
  EAMGDTFPDADADEDSLAGELDEAMGSSEWLALTKSPQAFYRGRPSWQGTPGVLRGSRDV
  LAGLSSSCCKWGCSKSEISSLC

• Sequence length: 142

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Relaxin signaling pathway

Reactome:

G alpha (s) signalling events
G alpha (i) signalling events
Relaxin receptors
ADORA2B mediated anti-inflammatory cytokines production

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HYPERPLASIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety disorder	Pubtator	27498038	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30125684, 30412752, 30891856, 31220339		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30125684, 30412752, 30891856, 31220339		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30705088	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28992627		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33413474	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31220339		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28992627		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	28776188		★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	23135160		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	28726252		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	31220339		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31220339		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16112403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	BEFREE	30131340		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30824200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	31220339		★☆☆☆☆ Found in Text Mining only