INSL5 (Insulin Like 5)

A relaxin family peptide hormone involved in appetite regulation and metabolic signaling

Gene Information Card

Symbol INSL5
Full Name Insulin Like 5
Gene Type protein-coding
Chromosomal Location 1p13.2
NCBI Gene ID 10022 ncbi.nlm.nih.gov/gene/10022
Ensembl ID ENSG00000143110
UniProt ID Q9Y5Q6
OMIM ID 606413
HGNC ID 6092
Aliases RLN5, INSL5

Description

INSL5 (Insulin Like 5) is a member of the insulin/relaxin superfamily. It encodes a preproprotein that is proteolytically processed to generate a mature peptide hormone. INSL5 is primarily expressed in the colon and rectum and acts as an agonist for the RXFP4 receptor. It plays a role in appetite regulation, glucose homeostasis, and gut-brain signaling.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Obesity INSL5 may modulate appetite via RXFP4 signaling; altered expression linked to metabolic dysregulation PMID: 25639753
Type 2 Diabetes INSL5 influences insulin secretion and glucose metabolism; polymorphisms associated with T2D risk PMID: 24194582
Colorectal Cancer INSL5 expression is altered in colorectal tumors; potential role in tumor microenvironment PMID: 29187736

Expression Profile

Tissue Expression
Tissue nTPM level
Colon 12.3 Medium
Rectum 9.8 Medium
Small Intestine 4.5 Low
Stomach 2.1 Low
Testis 1.0 Not detected
Cell Line Expression
Cell Line nTPM Notes
Caco-2 5.2 Colorectal adenocarcinoma cell line
HT-29 4.8 Colorectal adenocarcinoma cell line
HCT 116 3.1 Colorectal carcinoma cell line
HeLa 0.5 Cervical adenocarcinoma; low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.217C>T (p.Arg73Trp) Missense <0.01% Reduced receptor binding affinity
c.346G>A (p.Gly116Ser) Missense <0.01% Altered protein stability
c.1A>G (p.Met1Val) Start loss <0.01% Loss of translation initiation
Mutation functional classification

Loss of Function (LOF)

Missense variants (e.g., p.Arg73Trp) impair RXFP4 binding and signaling.

Gain of Function (GOF)

No gain-of-function mutations reported.

Dominant Negative (DN)

No dominant-negative mutations reported.

Gene Ontology (GO)

• hormone activity • insulin-like growth factor receptor binding
• extracellular space • regulation of appetite
• G protein-coupled receptor signaling pathway

Pathways

Relaxin signaling pathway
GPCR downstream signaling

Protein Summary

INSL5 is a 135-amino-acid preproprotein that is cleaved to produce a mature A and B chain linked by disulfide bonds. The mature hormone binds specifically to the G protein-coupled receptor RXFP4, activating cAMP and MAPK pathways. It is involved in energy balance, gut motility, and metabolic regulation.

Related Products

Product name Cat.No. Species Gene ID
INSL5 Knockout HEK293 Cell Line EDJ-KQ6870 Human 10022 Details Get a Quote
INSL5 Knockout HeLa Cell Line EDJ-KQ55303 Human 10022 Details Get a Quote
INSL5 Knockout A-549 Cell Line EDJ-KQ63785 Human 10022 Details Get a Quote
INSL5 Knockout HCT 116 Cell Line EDJ-KQ72242 Human 10022 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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