Aliases for INSL3 Gene
Aliases for INSL3 Gene
External Ids for INSL3 Gene
- HGNC: 6086
- Entrez Gene: 3640
- Ensembl: ENSG00000248099
- OMIM: 146738
- UniProtKB: P51460
Previous HGNC Symbols for INSL3 Gene
- RLNL
Previous GeneCards Identifiers for INSL3 Gene
- GC19M018421
- GC19M018319
- GC19M017772
- GC19M017928
- GC19M017492
Summaries 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 Cancer. Among its related pathways are Peptide ligand-binding receptors and Relaxin signaling pathway. Gene Ontology (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.
Additional gene information for INSL3 Gene
- Monarch Initiative
- Search for INSL3 at DataMed
- Search for INSL3 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INSL3 Gene
Genomics for INSL3 Gene
GeneHancer (GH) Regulatory Elements for INSL3 Gene
Promoters and enhancers for INSL3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around INSL3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the INSL3 gene promoter:
Regulatory Element Products
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)
Genomic View for INSL3 Gene
Genes around INSL3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.11 by Ensembl
- 19p13.11 by Entrez Gene
- 19p13.11 by HGNC
INSL3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for INSL3 Gene
Post-translational modifications for INSL3 Gene
No Post-translational modifications
Other Protein References for INSL3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for INSL3
- Novus Biologicals Antibodies for INSL3
-
Abcam antibodies for INSL3
-
Cloud-Clone Corp. Antibodies for INSL3
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Protein Products
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-
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-
ProSci Proteins for INSL3
-
Abcam proteins for INSL3
Assay Products
-
Cloud-Clone Corp. Assay Kits for INSL3
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for INSL3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P51460- Family:
-
- Belongs to the insulin family.
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002020 | protease binding | IPI | 20082125 |
| GO:0005102 | receptor binding | TAS | 8020942 |
| GO:0005158 | insulin receptor binding | TAS | 8253799 |
| GO:0005179 | hormone activity | IEA | -- |
Phenotypes for INSL3 Gene
- MGI mutant phenotypes for INSL3:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for INSL3:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for INSL3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for INSL3 gene
- Search ViGene Biosciences for INSL3
CRISPR Products
-
OriGene CRISPR knockouts for INSL3
- genomics-online: gRNA clones - Search results for 103 available INSL3 gene related products
- Overview of 103 available INSL3 gene related products
- Applied Biological Materials CRISPR for INSL3
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Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for INSL3
- GenScript: Design CRISPR guide RNA sequences for INSL3
miRNA for INSL3 Gene
- miRTarBase miRNAs that target INSL3
-
- hsa-mir-375 (MIRT019789)
- hsa-mir-181a-5p (MIRT025096)
- hsa-mir-96-5p (MIRT027904)
- hsa-mir-877-3p (MIRT036823)
- hsa-mir-182-5p (MIRT047185)
- hsa-mir-17-5p (MIRT050968)
- hsa-mir-26a-5p (MIRT137414)
- hsa-mir-26b-5p (MIRT137415)
- hsa-mir-181b-5p (MIRT137417)
- hsa-mir-181c-5p (MIRT137418)
- hsa-mir-181d-5p (MIRT137430)
miRNA Products
- Search ViGene Biosciences for INSL3
Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for 103 available INSL3 gene related products
- Overview of 103 available INSL3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for INSL3 gene
Clone Products
- Sino Biological Human cDNA Clone for INSL3
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for INSL3
-
ViGene Biosciences adenoviral particle packaged cDNA for INSL3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for INSL3 gene
-
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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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for INSL3 Gene
Pathways & Interactions for INSL3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peptide ligand-binding receptors | ||
| 2 | Signaling by GPCR | ||
| 3 | Relaxin signaling pathway | ||
| 4 | G alpha (s) signalling events | ||
Pathways by source for INSL3 Gene
8 Reactome pathways for INSL3 Gene
1 KEGG pathway for INSL3 Gene
Interacting Proteins for INSL3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007186 | G-protein coupled receptor signaling pathway | TAS | -- |
| GO:0007267 | cell-cell signaling | TAS | 8253799 |
| GO:0007283 | spermatogenesis | TAS | 8253799 |
| GO:0010469 | regulation of receptor activity | IEA | -- |
| GO:0010634 | positive regulation of epithelial cell migration | IDA | 23539510 |
No data available for SIGNOR curated interactions for INSL3 Gene
Transcripts for INSL3 Gene
mRNA/cDNA for INSL3 Gene
- (2) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (48) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for INSL3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for INSL3
- genomics-online: gRNA clones - Search results for 103 available INSL3 gene related products
- Overview of 103 available INSL3 gene related products
- Applied Biological Materials CRISPR for INSL3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for INSL3
- GenScript: Design CRISPR guide RNA sequences for INSL3
miRNA Products
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Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for INSL3
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- genomics-online: shRNA clones - Search results for 103 available INSL3 gene related products
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-
ViGene Biosciences ready-to-package AAV shRNAs for INSL3 gene
Clone Products
- Sino Biological Human cDNA Clone for INSL3
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- Applied Biological Materials Clones for INSL3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for INSL3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- XY Germ Cells Testis Cord
- Testis Interstitium
-
Gonad
- XY Germ Cells Testis Cord
-
Ovary (Reproductive System)
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).
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, PaxDb, and MOPED for INSL3 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of INSL3 Gene:
INSL3SOURCE GeneReport for Unigene cluster for INSL3 Gene:
Hs.37062mRNA 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
Organs:
Abdomen:
- kidney
Pelvis:
- testicle
- ureter
Primer Products
-
OriGene qPCR primer pairs for INSL3
-
OriGene qPCR primer pairs and template standards for INSL3
- genomics-online: primer clones - Search results for 103 available INSL3 gene related products
- Overview of 103 available INSL3 gene related products
Orthologs for INSL3 Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | INSL3 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | INSL3 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | INSL3 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Insl3 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Insl3 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | INSL3 34 |
|
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)
Paralogs for INSL3 Gene
No data available for Paralogs for INSL3 Gene
Variants for INSL3 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104894697 | pathogenic, Cryptorchidism, unilateral or bilateral, Cryptorchidism (CRYPTO) [MIM:219050] | 17,816,972(-) | G/A/C | coding_sequence_variant, missense_variant | |
| rs104894698 | pathogenic, Cryptorchidism, unilateral or bilateral, Cryptorchidism (CRYPTO) [MIM:219050] | 17,816,946(-) | G/A | coding_sequence_variant, missense_variant, synonymous_variant | |
| rs121912555 | pathogenic, Cryptorchidism, unilateral or bilateral, Cryptorchidism (CRYPTO) [MIM:219050] | 17,816,920(-) | G/A/C | coding_sequence_variant, missense_variant, synonymous_variant | |
| rs121912556 | pathogenic, Cryptorchidism, unilateral or bilateral | 17,816,945(-) | C/T | coding_sequence_variant, missense_variant | |
| rs398122886 | pathogenic, Cryptorchidism, unilateral or bilateral | 17,817,033(-) | G/A | coding_sequence_variant, stop_gained, synonymous_variant |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INSL3 Gene
Disorders for INSL3 Gene
(13) MalaCards diseases for INSL3 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cryptorchidism, unilateral or bilateral |
|
|
| testicular cancer |
|
|
| testicular disease |
|
|
| testicular torsion |
|
|
| anorchia |
|
|
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
No data available for Genatlas for INSL3 Gene
Publications for INSL3 Gene
- 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 22 44 58
- 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 22 44 58
- 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 22 44 58
- 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 22 44 58
- 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 22 58
Products for INSL3 Gene
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- Overview of 103 available INSL3 gene related products
Sources for INSL3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
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