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Aliases for INSL3 Gene

Aliases for INSL3 Gene

  • Insulin-Like 3 (Leydig Cell) 2 3
  • Leydig Insulin-Like Peptide 3 4
  • Relaxin-Like Factor 2 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
  • Insulin-Like 3 3

External Ids for INSL3 Gene

Previous HGNC Symbols for INSL3 Gene

  • RLNL

Previous GeneCards Identifiers for INSL3 Gene

  • GC19M018421
  • GC19M018319
  • GC19M017772
  • 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 (Leydig Cell)) is a Protein Coding gene. Diseases associated with INSL3 include cryptorchidism and testicular disease. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include receptor binding and protease binding.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INSL3 Gene

Genomics for INSL3 Gene

Regulatory Elements for INSL3 Gene

Genomic Location for INSL3 Gene

Start:
17,816,512 bp from pter
End:
17,821,574 bp from pter
Size:
5,063 bases
Orientation:
Minus strand

Genomic View for INSL3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for INSL3 Gene at MOPED

Post-translational modifications for INSL3 Gene

No Post-translational modifications

Other Protein References for INSL3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for INSL3 Gene

Domains for INSL3 Gene

Gene Families for INSL3 Gene

HGNC:

Protein Domains for INSL3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for INSL3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P51460

UniProtKB/Swiss-Prot:

INSL3_HUMAN :
  • P51460
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

GENATLAS Biochemistry:
Leydig insulin-like protein 3,member of the insulin-like superfamily
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

Gene Ontology (GO) - Molecular Function for INSL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IEA --
GO:0002020 protease binding IPI 20082125
GO:0005102 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

Animal Models for INSL3 Gene

MGI Knock Outs for INSL3:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for INSL3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for INSL3 Gene

Localization for INSL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for INSL3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for INSL3 Gene COMPARTMENTS Subcellular localization image for INSL3 gene
Compartment Confidence
extracellular 5
cytosol 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 IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with INSL3: view

Pathways for INSL3 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for INSL3 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000321724%0d%0a9606.ENSP00000298386%0d%0a9606.ENSP00000303830%0d%0a
Selected Interacting proteins: ENSP00000321724 P51460-INSL3_HUMAN for INSL3 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for INSL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001556 oocyte maturation IEA --
GO:0001701 in utero embryonic development IEA --
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IEA --
GO:0007267 cell-cell signaling TAS 8253799
GO:0007283 spermatogenesis TAS 8253799
genes like me logo Genes that share ontologies with INSL3: view

Compounds for INSL3 Gene

(12) Novoseek inferred chemical compound relationships for INSL3 Gene

Compound -log(P) Hits PubMed IDs
phthalate esters 65.1 1
testosterone 64.6 46
phthalate 46.4 1
3beta-hydroxysteroid 26.7 2
diethylstilbestrol 21.4 1
genes like me logo Genes that share compounds with INSL3: view

Transcripts for INSL3 Gene

Unigene Clusters for INSL3 Gene

Insulin-like 3 (Leydig cell):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for INSL3

Primer Products

Flow Cytometry 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 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 (40.1) and Whole Blood (4.6).

Protein differential expression in normal tissues for INSL3 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for INSL3 Gene

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.
genes like me logo Genes that share expressions with INSL3: view

Expression partners for INSL3 Gene

In Situ Assay Products

Orthologs for INSL3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for INSL3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia INSL3 35
  • 77.61 (n)
  • 70.23 (a)
INSL3 36
  • 41 (a)
OneToOne
dog
(Canis familiaris)
Mammalia INSL3 35
  • 79.44 (n)
  • 72.9 (a)
INSL3 36
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Insl3 35
  • 68.08 (n)
  • 62.71 (a)
Insl3 16
Insl3 36
  • 30 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia INSL3 35
  • 98.47 (n)
  • 97.71 (a)
INSL3 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Insl3 35
  • 68.31 (n)
  • 60.66 (a)
oppossum
(Monodelphis domestica)
Mammalia INSL3 36
  • 24 (a)
OneToOne
Species with no ortholog for INSL3:
  • 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)

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 Sequence Context AA Info Type MAF
rs6523 - 17,821,329(-) CTGCG(A/G)CCGGA reference, missense
rs1003887 -- 17,816,591(-) TCCAG(A/G)GGAGC utr-variant-3-prime
rs1047233 -- 17,821,381(-) GCGCT(A/C/G/T)GTGCG reference, synonymous-codon
rs2286663 -- 17,821,480(+) ACCAG(C/T)GCCCA synonymous-codon, reference
rs2382986 -- 17,819,612(+) cgagg(C/G)aggtg intron-variant

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

Variant ID Type Subtype PubMed ID
dgv50n68 CNV Loss 17160897
nsv911209 CNV Loss 21882294
dgv3764n71 CNV Loss 21882294
nsv911214 CNV Loss 21882294
nsv911219 CNV Loss 21882294
nsv911220 CNV Loss 21882294
nsv911221 CNV Loss 21882294
dgv3766n71 CNV Loss 21882294

Relevant External Links for INSL3 Gene

HapMap Linkage Disequilibrium report
INSL3
Human Gene Mutation Database (HGMD)
INSL3

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

Disorders for INSL3 Gene

(1) OMIM Diseases for INSL3 Gene (146738)

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.

(4) University of Copenhagen DISEASES for INSL3 Gene

(15) Novoseek inferred disease relationships for INSL3 Gene

Disease -log(P) Hits PubMed IDs
cryptorchidism 90.4 65
testicular dysgenesis 84.1 2
testicular cancer 66.5 3
testicular diseases 59.8 1
azoospermia 43.9 2

Relevant External Links for INSL3

Genetic Association Database (GAD)
INSL3
Human Genome Epidemiology (HuGE) Navigator
INSL3
genes like me logo Genes that share disorders with INSL3: view

No data available for Genatlas for INSL3 Gene

Publications for INSL3 Gene

  1. 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
  2. Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism. (PMID: 11095425) Tomboc M. … Witchel S.F. (J. Clin. Endocrinol. Metab. 2000) 3 4 23 48
  3. Ala/Thr60 variant of the Leydig insulin-like hormone is not associated with cryptorchidism in the Japanese population. (PMID: 11380919) Takahashi I. … Takada G. (Pediatr. Int. 2001) 3 4 23 48
  4. Different insulin-like 3 (INSL3) gene mutations not associated with human cryptorchidism. (PMID: 11383919) Marin P. … Foresta C. (J. Endocrinol. Invest. 2001) 3 4 23 48
  5. Genetic analysis of the INSL3 gene in patients with maldescent of the testis. (PMID: 11182749) Lim H.N. … Hughes I.A. (Eur. J. Endocrinol. 2001) 3 4 23 48

Products for INSL3 Gene

Sources for INSL3 Gene

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