This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-... See more...

Aliases for INSL3 Gene

Aliases for INSL3 Gene

  • Insulin Like 3 2 3 5
  • Insulin-Like 3 (Leydig Cell) 2 3
  • Leydig Insulin-Like Peptide 3 4
  • Relaxin-Like Factor 2 4
  • Insulin-Like 3 3 4
  • Prepro-INSL3 2 3
  • Ley-I-L 3 4
  • RLNL 3 4
  • RLF 3 4
  • Leydig Insulin -Like Hormone 3
  • Relaxin-Like Factor B 3

External Ids for INSL3 Gene

Previous HGNC Symbols for INSL3 Gene

  • RLNL

Previous GeneCards Identifiers for INSL3 Gene

  • GC19M018421
  • GC19M018319
  • GC19M017772
  • GC19M017788
  • GC19M017928
  • GC19M017492

Summaries for INSL3 Gene

Entrez Gene Summary for INSL3 Gene

  • This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

GeneCards Summary for INSL3 Gene

INSL3 (Insulin Like 3) is a Protein Coding gene. Diseases associated with INSL3 include Cryptorchidism, Unilateral Or Bilateral and Testicular Disease. Among its related pathways are Circadian entrainment and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and protease binding.

UniProtKB/Swiss-Prot Summary for INSL3 Gene

  • Seems to play a role in testicular function. May be a trophic hormone with a role in testicular descent in fetal life. Is a ligand for LGR8 receptor.

Gene Wiki entry for INSL3 Gene

Additional gene information for INSL3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for INSL3 Gene

Genomics for INSL3 Gene

GeneHancer (GH) Regulatory Elements for INSL3 Gene

Promoters and enhancers for INSL3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J017821 Promoter 0.3 EPDnew 750.6 +0.0 35 0.1 INSL3 AB372778-016 L13712-014 RF00017-2890
GH19J017845 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.8 -27.2 -27203 6.4 GTF3C2 SP1 RBPJ POLR2A CREB1 HCFC1 ETV6 RELA ZNF121 ZNF148 JAK3 lnc-JAK3-1 UPF1 ENSG00000268030 FCHO1 B3GNT3 INSL3 MVB12A GTPBP3 UNC13A
GH19J017841 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.3 -21.1 -21127 3.4 ZBTB40 POLR2A CC2D1A L3MBTL2 SP1 GTF2F1 ZFX EGR1 KLF14 GMEB1 MVB12A ENSG00000268030 PLVAP RPL18A COLGALT1 INSL3 ENSG00000268938 HAUS8 PGLS F2RL3
GH19J017762 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 11.8 +58.9 58864 1.1 ZNF362 CC2D1A NFYC SP1 CSDE1 ZNF384 KLF14 POLR2A RFX1 PRDM10 FCHO1 MAP1S B3GNT3 INSL3 PLVAP NXNL1 F2RL3 lnc-MAP1S-1 piR-35674-251 L13712-014
GH19J017764 Enhancer 1.1 ENCODE dbSUPER 11.5 +55.7 55736 3.1 ZNF24 CTCF LCORL MLX RBPJ POLR2A NR2F1 NR2F6 ATF1 MIXL1 MVB12A COLGALT1 HAUS8 ENSG00000268030 ELL ENSG00000268938 UBA52 B3GNT3 UNC13A MAP1S
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INSL3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the INSL3 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • HNF-4alpha1
  • HNF-4alpha2
  • JunB
  • RP58
  • STAT5B

Genomic Locations for INSL3 Gene

Genomic Locations for INSL3 Gene
chr19:17,816,512-17,821,574
(GRCh38/hg38)
Size:
5,063 bases
Orientation:
Minus strand
chr19:17,927,321-17,932,383
(GRCh37/hg19)
Size:
5,063 bases
Orientation:
Minus strand

Genomic View for INSL3 Gene

Genes around INSL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INSL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INSL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INSL3 Gene

Proteins for INSL3 Gene

  • Protein details for INSL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51460-INSL3_HUMAN
    Recommended name:
    Insulin-like 3
    Protein Accession:
    P51460
    Secondary Accessions:
    • B4DZ72
    • G3XAG0
    • Q3KPI5
    • Q3KPI6
    • Q6YNB5
    • Q9UEA2
    • Q9UPH6

    Protein attributes for INSL3 Gene

    Size:
    131 amino acids
    Molecular mass:
    14502 Da
    Quaternary structure:
    • Heterodimer of a B chain and an A chain linked by two disulfide bonds.
    SequenceCaution:
    • Sequence=CAA52017.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for INSL3 Gene

    Alternative splice isoforms for INSL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INSL3 Gene

Post-translational modifications for INSL3 Gene

No Post-translational modifications

Other Protein References for INSL3 Gene

No data available for DME Specific Peptides for INSL3 Gene

Domains & Families for INSL3 Gene

Gene Families for INSL3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for INSL3 Gene

Suggested Antigen Peptide Sequences for INSL3 Gene

GenScript: Design optimal peptide antigens:
  • Relaxin-like factor (INSL3_HUMAN)
  • Relaxin-like factor b (Q6YNB5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51460

UniProtKB/Swiss-Prot:

INSL3_HUMAN :
  • Belongs to the insulin family.
Family:
  • Belongs to the insulin family.
genes like me logo Genes that share domains with INSL3: view

Function for INSL3 Gene

Molecular function for INSL3 Gene

UniProtKB/Swiss-Prot Function:
Seems to play a role in testicular function. May be a trophic hormone with a role in testicular descent in fetal life. Is a ligand for LGR8 receptor.
GENATLAS Biochemistry:
Leydig insulin-like protein 3,member of the insulin-like superfamily

Gene Ontology (GO) - Molecular Function for INSL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G protein-coupled receptor binding IBA 21873635
GO:0002020 protease binding IPI 20082125
GO:0005102 signaling receptor binding TAS 8020942
GO:0005158 insulin receptor binding TAS 8253799
GO:0005179 hormone activity IEA --
genes like me logo Genes that share ontologies with INSL3: view
genes like me logo Genes that share phenotypes with INSL3: view

Human Phenotype Ontology for INSL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for INSL3 Gene

MGI Knock Outs for INSL3:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for INSL3 Gene

Localization for INSL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for INSL3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for INSL3 gene
Compartment Confidence
extracellular 5
plasma membrane 1
nucleus 1

Gene Ontology (GO) - Cellular Components for INSL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
genes like me logo Genes that share ontologies with INSL3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for INSL3 Gene

Pathways & Interactions for INSL3 Gene

genes like me logo Genes that share pathways with INSL3: view

Gene Ontology (GO) - Biological Process for INSL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IBA 21873635
GO:0007267 cell-cell signaling TAS 8253799
GO:0007283 spermatogenesis TAS 8253799
GO:0010634 positive regulation of epithelial cell migration IDA 23539510
genes like me logo Genes that share ontologies with INSL3: view

No data available for SIGNOR curated interactions for INSL3 Gene

Drugs & Compounds for INSL3 Gene

(8) Drugs for INSL3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for INSL3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with INSL3: view

Transcripts for INSL3 Gene

mRNA/cDNA for INSL3 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for INSL3 Gene

No ASD Table

Relevant External Links for INSL3 Gene

GeneLoc Exon Structure for
INSL3
ECgene alternative splicing isoforms for
INSL3

Expression for INSL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for INSL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for INSL3 Gene

This gene is overexpressed in Testis (x40.1) and Whole Blood (x4.6).

Protein differential expression in normal tissues from HIPED for INSL3 Gene

This gene is overexpressed in Pancreatic juice (52.1) and Fetal ovary (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for INSL3 Gene



Protein tissue co-expression partners for INSL3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of INSL3 Gene:

INSL3

SOURCE GeneReport for Unigene cluster for INSL3 Gene:

Hs.37062

mRNA Expression by UniProt/SwissProt for INSL3 Gene:

P51460-INSL3_HUMAN
Tissue specificity: Expressed in prenatal and postnatal Leydig cells. Found as well in the corpus luteum, trophoblast, fetal membranes and breast.

Evidence on tissue expression from TISSUES for INSL3 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for INSL3 Gene

Germ Layers:
  • mesoderm
Systems:
  • reproductive
  • urinary
Regions:
Abdomen:
  • kidney
Pelvis:
  • testicle
  • ureter
genes like me logo Genes that share expression patterns with INSL3: view

Orthologs for INSL3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for INSL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia INSL3 33 32
  • 98.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia INSL3 33 32
  • 79.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia INSL3 33 32
  • 77.61 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Insl3 32
  • 68.31 (n)
mouse
(Mus musculus)
Mammalia Insl3 17 33 32
  • 68.08 (n)
oppossum
(Monodelphis domestica)
Mammalia INSL3 33
  • 24 (a)
OneToOne
Species where no ortholog for INSL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for INSL3 Gene

ENSEMBL:
Gene Tree for INSL3 (if available)
TreeFam:
Gene Tree for INSL3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for INSL3: view image

Paralogs for INSL3 Gene

No data available for Paralogs for INSL3 Gene

Variants for INSL3 Gene

Sequence variations from dbSNP and Humsavar for INSL3 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs104894697 pathogenic, Cryptorchidism, Cryptorchidism (CRYPTO) [MIM:219050] 17,816,972(-) G/A/C coding_sequence_variant, missense_variant
rs104894698 pathogenic, Cryptorchidism, Cryptorchidism (CRYPTO) [MIM:219050] 17,816,946(-) G/A coding_sequence_variant, missense_variant, synonymous_variant
rs1187807999 uncertain-significance, Inborn genetic diseases 17,821,359(-) GGGGG/GGGG/GGGGGG coding_sequence_variant, frameshift
rs121912555 pathogenic, Cryptorchidism, Cryptorchidism (CRYPTO) [MIM:219050] 17,816,920(-) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs121912556 pathogenic, Cryptorchidism, - 17,816,945(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for INSL3 Gene

Variant ID Type Subtype PubMed ID
dgv50n68 CNV loss 17160897

Variation tolerance for INSL3 Gene

Gene Damage Index Score: 0.38; 8.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INSL3 Gene

Human Gene Mutation Database (HGMD)
INSL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
INSL3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INSL3 Gene

Disorders for INSL3 Gene

MalaCards: The human disease database

(15) MalaCards diseases for INSL3 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cryptorchidism, unilateral or bilateral
  • undescended testis
testicular disease
  • disorder of testis
testicular cancer
  • childhood neoplasm of the testis
testicular torsion
  • torsion of testicular cord
anorchia
  • absence of testes
- elite association - COSMIC cancer census association via MalaCards
Search INSL3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

INSL3_HUMAN
  • Cryptorchidism (CRYPTO) [MIM:219050]: One of the most frequent congenital abnormalities in humans, involving 2-5% of male births. Cryptorchidism is associated with increased risk of infertility and testicular cancer. {ECO:0000269 PubMed:11095425, ECO:0000269 PubMed:11746019, ECO:0000269 PubMed:12601553}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for INSL3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with INSL3: view

No data available for Genatlas for INSL3 Gene

Publications for INSL3 Gene

  1. Genetic analysis of the INSL3 gene in patients with maldescent of the testis. (PMID: 11182749) Lim HN … Hughes IA (European journal of endocrinology 2001) 3 4 23 43 56
  2. Ala/Thr60 variant of the Leydig insulin-like hormone is not associated with cryptorchidism in the Japanese population. (PMID: 11380919) Takahashi I … Takada G (Pediatrics international : official journal of the Japan Pediatric Society 2001) 3 4 23 43 56
  3. Different insulin-like 3 (INSL3) gene mutations not associated with human cryptorchidism. (PMID: 11383919) Marin P … Foresta C (Journal of endocrinological investigation 2001) 3 4 23 43 56
  4. Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism. (PMID: 11095425) Tomboc M … Witchel SF (The Journal of clinical endocrinology and metabolism 2000) 3 4 23 43 56
  5. Structural organization of the porcine and human genes coding for a Leydig cell-specific insulin-like peptide (LEY I-L) and chromosomal localization of the human gene (INSL3). (PMID: 8020942) Burkhardt E … Engel W (Genomics 1994) 2 3 4 23 56

Products for INSL3 Gene

Sources for INSL3 Gene