INSL4 insulin like 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: INSL4provided by HGNC
Official Full Name: insulin like 4provided by HGNC
Primary source: HGNC:HGNC:6087
See related: Ensembl:ENSG00000120211 MIM:600910; AllianceGenome:HGNC:6087
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EPIL; PLACENTIN
Summary: INSL4 encodes the insulin-like 4 protein, a member of the insulin superfamily. INSL4 encodes a precursor that undergoes post-translational cleavage to produce 3 polypeptide chains, A-C, that form tertiary structures composed of either all three chains, or just the A and B chains. Expression of INSL4 products occurs within the early placental cytotrophoblast and syncytiotrophoblast. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward placenta (RPKM 30.0) See more
Orthologs: all
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Genomic context

Location:: 9p24.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (5231419..5235304)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (5236508..5240393)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (5231419..5235304)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LKB1 deficiency induces an autocrine INSL4 signaling that critically supports the growth and survival of lung cancer cells. Therefore, aberrant INSL4 signaling is a promising therapeutic target for LKB1-deficient lung cancers.
Title: Role of INSL4 Signaling in Sustaining the Growth and Viability of LKB1-Inactivated Lung Cancer.
Report decreased INSL4 gene expression in both the invasive and the noninvasive areas of villous trophoblast in patients with placenta accreta.
Title: Relaxin, its receptor (RXFP1), and insulin-like peptide 4 expression through gestation and in placenta accreta.
A tight interaction between HER-2 gene and EPIL in invasive breast cancer cells is probable.
Title: [Expression of early placenta insulin-like growth factor (EPIL) in breast cancer cells provides an autocrine loop with enhancement of predominantly HER-2-related invasivity].
Expression of the INSL4 gene was doubled in the placenta of the growth-restricted twin compared to the normally grown sibling, suggesting that it may be linked to a higher level of apoptosis and loss of cell viability
Title: Early placental insulin-like protein (INSL4 or EPIL) in placental and fetal membrane growth.
We identified an INSL4 alternatively spliced mRNA species that encodes putative novel INSL4-like peptides.
Title: Placenta-specific INSL4 expression is mediated by a human endogenous retrovirus element.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20266 (e-PCR)
- UniSTS:15904

RH17848 (e-PCR)
- UniSTS:69702

SHGC-34067 (e-PCR)
- UniSTS:65224

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hormone activity	IEA Inferred from Electronic Annotation more info
enables insulin-like growth factor receptor binding	TAS Traceable Author Statement more info	PubMed
enables signaling receptor binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within_positive_effect positive regulation of chorionic trophoblast cell proliferation	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular space	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: early placenta insulin-like peptide

Names: early placenta insulin-like peptide (EPIL); insulin-like 4 (placenta); insulin-like peptide 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002195.2 → NP_002186.1 early placenta insulin-like peptide precursor

See identical proteins and their annotated locations for NP_002186.1

Status: REVIEWED

Source sequence(s)

AL133547, L34838

Consensus CDS

CCDS6459.1

UniProtKB/Swiss-Prot

A8K678, Q14641, Q5W127

Related

ENSP00000239316.4, ENST00000239316.4

Conserved Domains (1) summary

cd04365
Location:104 → 138

IlGF_relaxin_like; IlGF_like family, relaxin_like subgroup, specific to vertebrates. Members include a number of active peptides including (pro)relaxin, mammalian Leydig cell-specific insulin-like peptide (gene INSL3), early placenta insulin-like peptide (ELIP; gene INSL4), ...