Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



INSL3 Gene

protein-coding   GIFtS: 56
GCID: GC19M017928

Insulin-Like 3 (Leydig Cell)

(Previous name: relaxin-like factor)
(Previous symbol: RLNL)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Insulin-Like 3 (Leydig Cell)1 2     Insulin-Like 32
RLNL1 2 3     ley-I-L2
Relaxin-Like Factor1 3     Leydig Insulin -Like Hormone2
prepro-INSL31 2     Relaxin-Like Factor B2
Leydig Insulin-Like Peptide2 3     Ley-I-L3
RLF2 3     

External Ids:    HGNC: 60861   Entrez Gene: 36402   Ensembl: ENSG000002480997   OMIM: 1467385   UniProtKB: P514603   

Export aliases for INSL3 gene to outside databases

Previous GC identifers: GC19M018421 GC19M018319 GC19M017772 GC19M017788 GC19M017492


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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. GO annotations related to this gene include protease binding and receptor binding.

UniProtKB/Swiss-Prot: INSL3_HUMAN, P51460
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 Wiki entry for INSL3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the INSL3 gene promoter:
         c-Fos   STAT5B   RP58   AP-1   JunB   Fra-1   FosB   HNF-4alpha2   HNF-4alpha1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidINSL3 promoter sequence
   Search Chromatin IP Primers for INSL3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat INSL3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2-p12   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.2-p12

INSL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INSL3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M017928:  view genomic region     (about GC identifiers)

Start:
17,927,321 bp from pter      End:
17,932,383 bp from pter
Size:
5,063 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: INSL3_HUMAN, P51460 (See protein sequence)
Recommended Name: Insulin-like 3 precursor  
Size: 131 amino acids; 14502 Da
Subunit: Heterodimer of a B chain and an A chain linked by two disulfide bonds
Sequence caution: Sequence=CAA52017.1; Type=Erroneous gene model prediction;
3 PDB 3D structures from and Proteopedia for INSL3:
2H8B (3D)        2K6T (3D)        2K6U (3D)    
Secondary accessions: B4DZ72 G3XAG0 Q3KPI5 Q3KPI6 Q6YNB5 Q9UEA2 Q9UPH6
Alternative splicing: 2 isoforms:  P51460-1   P51460-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for INSL3: NX_P51460

Explore proteomics data for INSL3 at MOPED


See INSL3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001252516.1  NP_005534.2  

ENSEMBL proteins: 
 ENSP00000321724   ENSP00000469309   ENSP00000369017  
Reactome Protein details: P51460

INSL3 Human Recombinant Protein Products:

Browse Purified and Recombinant Proteins at EMD Millipore
R&D Systems Recombinant & Natural Proteins for INSL3
Browse recombinant and purified proteins available from Enzo Life Sciences
OriGene Purified Protein for INSL3
OriGene Protein Over-expression Lysate for INSL3
OriGene MassSpec for INSL3
OriGene Custom Protein Services for INSL3
GenScript Custom Purified and Recombinant Proteins Services for INSL3
Novus Biologicals INSL3 Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for INSL3

INSL3 Antibody Products:

Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
OriGene Custom Antibody Services for INSL3
Novus Biologicals INSL3 Antibodies
Abcam antibodies for INSL3
Cloud-Clone Corp. Antibodies for INSL3
Search ThermoFisher Antibodies for INSL3
LSBio Antibodies in human, mouse, rat for INSL3

INSL3 Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for INSL3
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for INSL3
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for INSL3
Cloud-Clone Corp. CLIAs for INSL3


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TryGeneCards Plus
HGNC Gene Families:
ENDOLIG: Endogenous ligands

2 InterPro protein domains:
 IPR016179 Insulin-like
 IPR022353 Insulin_CS

Graphical View of Domain Structure for InterPro Entry P51460

ProtoNet protein and cluster: P51460

1 Blocks protein domain: IPB004825 Insulin/IGF/relaxin

UniProtKB/Swiss-Prot: INSL3_HUMAN, P51460
Similarity: Belongs to the insulin family


INSL3 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Molecular Function:

     UniProtKB/Swiss-Prot Summary: INSL3_HUMAN, P51460
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 entry for INSL3:
Leydig insulin-like protein 3,member of the insulin-like superfamily

     Gene Ontology (GO): 5 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001664G-protein coupled receptor binding IEA--
GO:0002020protease binding IPI--
GO:0005102receptor binding TAS8020942
GO:0005158insulin receptor binding TAS8253799
GO:0005179hormone activity IEA--
     
INSL3 for ontologies           About GeneDecksing


Phenotypes:
     4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Insl3):
 behavior/neurological  endocrine/exocrine gland  reproductive system  skeleton 

INSL3 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Insl3tm1Imad for INSL3

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for INSL3
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for INSL3

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for INSL3
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for INSL3

miRNA
Products:
    
miRTarBase miRNAs that target INSL3:
hsa-mir-182-5p (MIRT047185), hsa-mir-96-5p (MIRT027904), hsa-mir-877-3p (MIRT036823), hsa-mir-181a-5p (MIRT025096), hsa-mir-375 (MIRT019789), hsa-mir-17-5p (MIRT050968)

Block miRNA regulation of human, mouse, rat INSL3 using miScript Target Protectors
Search for qRT-PCR Assays for microRNAs that regulate INSL3
SwitchGear 3'UTR luciferase reporter plasmidINSL3 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for INSL3
Predesigned siRNA for gene silencing in human, mouse, rat INSL3

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for INSL3

Clone
Products:
     
OriGene clones in human, mouse for INSL3 (see all 5)
OriGene ORF clones in mouse, rat for INSL3
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: INSL3 (NM_005543)
Sino Biological Human cDNA Clone for INSL3
DNA2.0 Custom Codon Optimized Gene Synthesis Service for INSL3
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INSL3

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for INSL3
Browse ESI BIO Cell Lines and PureStem Progenitors for INSL3 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INSL3


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Subcellular locations from UniProtKB/Swiss-Prot
INSL3_HUMAN, P51460: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
cytosol1
nucleus1

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region TAS--
GO:0005615extracellular space IEA--
GO:0048471perinuclear region of cytoplasm IEA--

INSL3 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
About This Section

TryGeneCards Plus

SuperPaths for INSL3 About    
See pathways by source

SuperPathContained pathways About
1Signaling by Interleukins
Interleukin receptor SHC signaling0.67
Signaling by Interleukins0.42
Interleukin-2 signaling0.67
Interleukin-7 signaling0.00
Interleukin-3, 5 and GM-CSF signaling0.59
2Peptide ligand-binding receptors
Class A/1 (Rhodopsin-like receptors)0.71
Peptide ligand-binding receptors0.60
GPCR ligand binding0.71
Relaxin receptors0.00
3Signaling by GPCR
Signaling by GPCR0.90
Signal Transduction0.58
GPCR downstream signaling0.90
4Interferon Signaling
Cytokine Signaling in Immune system0.59
5G alpha (s) signalling events
G alpha (s) signalling events

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



2 Reactome Pathways for INSL3
    Relaxin receptors
G alpha (s) signalling events



INSL3 for pathways           About GeneDecksing

    Pathway & Disease-focused RT2 Profiler PCR Array including INSL3: 
          Insulin Signaling Pathway in human mouse rat

Interactions:

    GeneGlobe Interaction Network for INSL3

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for INSL3 (P514603 ENSP000003217244) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
RXFP2Q8WXD03, ENSP000002983864I2D: score=2 STRING: ENSP00000298386
INSRENSP000003038304STRING: ENSP00000303830
CCNB1IP1ENSP000003373964STRING: ENSP00000337396
About this table

Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001556oocyte maturation IEA--
GO:0001701in utero embryonic development IEA--
GO:0007193adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IEA--
GO:0007267cell-cell signaling TAS8253799
GO:0007283spermatogenesis TAS8253799

INSL3 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

TryGeneCards Plus
Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for INSL3

Selected Novoseek inferred chemical compound relationships for INSL3 gene (see all 12)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
phthalate esters 65.1 1 18949836 (1)
testosterone 64.6 72 18499751 (6), 16804040 (4), 19226271 (4), 19416189 (3) (see all 28)
phthalate 46.4 1 17258888 (1)
3beta-hydroxysteroid 26.7 2 9239733 (1), 10519633 (1)
diethylstilbestrol 21.4 2 12684664 (1)
alanine 16.8 1 11380919 (1)
threonine 9.93 1 11380919 (1)
valine 2.93 1 12464361 (1)
lysine 0 1 15209497 (1)
steroid 0 1 14687758 (1)



INSL3 for compounds           About GeneDecksing



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
About This Section

TryGeneCards Plus

REFSEQ mRNAs for INSL3 gene (2 alternative transcripts): 
NM_001265587.1  NM_005543.3  

Unigene Cluster for INSL3:

Insulin-like 3 (Leydig cell)
Hs.37062  [show with all ESTs]
Unigene Representative Sequence: BM560108
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000317306(uc002nhm.1) ENST00000598577 ENST00000379695(uc010ebf.1)

miRNA
Products:
     
Block miRNA regulation of human, mouse, rat INSL3 using miScript Target Protectors
Search for qRT-PCR Assays for microRNAs that regulate INSL3
SwitchGear 3'UTR luciferase reporter plasmidINSL3 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for INSL3
Predesigned siRNA for gene silencing in human, mouse, rat INSL3
Clone
Products:
     
OriGene clones in human, mouse for INSL3 (see all 5)
OriGene ORF clones in mouse, rat for INSL3
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: INSL3 (NM_005543)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for INSL3
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INSL3
Primer
Products:
    
OriGene qPCR primer pairs and template standards for INSL3
OriGene qSTAR qPCR primer pairs in human, mouse for INSL3
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat INSL3
  QuantiTect SYBR Green Assays in human, mouse, rat INSL3
  QuantiFast Probe-based Assays in human, mouse, rat INSL3

Additional mRNA sequence: 

AK302780.1 AY082014.1 BC032810.1 BC040435.1 BC053345.1 BC061886.1 BC071706.1 BC106721.1 
BC106722.1 BC107045.2 S72482.1 

4 DOTS entries:

DT.105201  DT.97798826  DT.91751496  DT.95082839 

Selected AceView cDNA sequences (see all 48):

BC040435 U31602 CR608936 NM_005543 BC053345 BI829405 BI825830 BG718760 
BI826252 BI827691 BI831421 AI654942 BX392782 BI827293 BI831038 BI828546 
BI826480 AI825066 BI825607 BC071706 AY082014 BI520101 BM560108 BI520239 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TryGeneCards Plus

INSL3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TGTAACACCC
INSL3 Expression
About this image


INSL3 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 3) fully expand
 
 Testis (Reproductive System)    fully expand to see all 3 entries
         XY Germ Cells Testis Cord
         Testis Interstitium
 
 Gonad
         XY Germ Cells Testis Cord
 
 Ovary (Reproductive System)
INSL3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

INSL3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.37062

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

    Pathway & Disease-focused RT2 Profiler PCR Array including INSL3: 
          Insulin Signaling Pathway in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for INSL3
OriGene qSTAR qPCR primer pairs in human, mouse for INSL3
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat INSL3
QuantiTect SYBR Green Assays in human, mouse, rat INSL3
QuantiFast Probe-based Assays in human, mouse, rat INSL3
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INSL3

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

TryGeneCards Plus

This gene was present in the common ancestor of human and mouse.

Orthologs for INSL3 gene from Selected species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Insl31 , 5 insulin-like 31, 5 68.08(n)1
62.71(a)1
  8 (34.43 cM)5
163361  NM_013564.71  NP_038592.31 
 716892145 


ENSEMBL Gene Tree for INSL3 (if available)
TreeFam Gene Tree for INSL3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section

TryGeneCards Plus
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

TryGeneCards Plus

Selected SNPs for INSL3 (see all 225)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1048946971,2,,4
CCryptorchidism (CRYPTO)4 pathogenic117859062(-) GCAGCC/TCCTGC 4 P S L mis12Minor allele frequency- T:0.00NA 4726
VAR_0171224
Cryptorchidism (CRYPTO)4--see VAR_0171222 N K mis40--------
VAR_0132364
Cryptorchidism (CRYPTO)4--see VAR_0132362 R C mis40--------
rs1219125561,2
Cpathogenic117859035(-) TCACCA/GCCACC 4 T A H R mis10--------
rs1048946981,2
Cpathogenic117859036(-) ATCACC/TGCCAC 4 T R C syn1 mis10--------
rs110860801,2
C,F,A,H--17858322(+) TTTTCC/TGACAT 2 -- ds500130Minor allele frequency- N:0.00EA NA NS WA CSA 2986
rs1509125221,2
C--17858362(+) AGTCCG/TCAATG 2 -- ds50010--------
rs1394050771,2
C--17858391(+) CTTGGA/TAGAGA 2 -- ds50010--------
rs1874680501,2
--17858480(+) CTTTGC/TGTTGC 2 -- ds50010--------
rs1920223461,2
--17858481(+) TTTGCA/GTTGCA 2 -- ds50010--------

HapMap Linkage Disequilibrium report for INSL3 (17927321 - 17932383 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for INSL3:    About this table    
Variant IDTypeSubtypePubMed ID
dgv3764n71CNV Loss21882294
dgv50n68CNV Loss17160897
nsv911220CNV Loss21882294
nsv911214CNV Loss21882294
nsv911219CNV Loss21882294
dgv3766n71CNV Loss21882294
nsv911209CNV Loss21882294
nsv911221CNV Loss21882294

Human Gene Mutation Database (HGMD): INSL3
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing INSL3
DNA2.0 Custom Variant and Variant Library Synthesis for INSL3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TryGeneCards Plus
OMIM gene information: 146738   
OMIM disorders: 219050  
UniProtKB/Swiss-Prot: INSL3_HUMAN, P51460
  • 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. Note=The disease may be caused by mutations affecting the gene represented in this entry

  • Selected diseases for INSL3 (see all 32):    
    About MalaCards
    cryptorchidism    testicular disease    anorchia    hyperandrogenism
    testicular leydig cell tumor    sertoli-leydig cell tumor    leydig cell tumor    testicular cancer
    klinefelter's syndrome    azoospermia    goiter    hypospadias
    severe combined immunodeficiency    male infertility    infertility    polycystic ovary syndrome
    childhood leukemia    thyroid cancer    osteoporosis    obesity

    4 diseases from the University of Copenhagen DISEASES database for INSL3:
    Cryptorchidism     Testicular cancer     Infertility     Hypospadias

    INSL3 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for INSL3 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cryptorchidism 90.4 84 11992081 (5), 15533513 (4), 11383919 (4), 11380919 (4) (see all 39)
    testicular dysgenesis 84.1 3 16687567 (1), 19329805 (1)
    testicular cancer 66.5 4 16687567 (2), 15755855 (1)
    testicular diseases 59.8 1 15755855 (1)
    azoospermia 43.9 2 17314233 (2)
    infertility 42.6 5 16687567 (2), 15956751 (1), 15579743 (1)
    thyroid carcinoma 30.5 9 12684664 (3), 19416220 (1), 16010410 (1), 19950223 (1)
    hyperandrogenism 25.5 4 16926256 (2), 17356050 (2)
    hyperplasia 7.81 6 10202675 (3), 10065864 (2), 15956746 (1)
    goiter 6.98 1 12684664 (1)

    Genetic Association Database (GAD): INSL3
    Human Genome Epidemiology (HuGE) Navigator: INSL3 (19 documents)

    Export disorders for INSL3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for INSL3 gene, integrated from 10 sources (see all 204):
    (articles sorted by number of sources associating them with INSL3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ala/Thr60 variant of the Leydig insulin-like hormone is not associated with cryptorchidism in the Japanese population. (PubMed id 11380919)1, 2, 4, 9 Takahashi I.... Takada G. (Pediatr. Int. 2001)
    2. Different insulin-like 3 (INSL3) gene mutations not associated with human cryptorchidism. (PubMed id 11383919)1, 2, 4, 9 Marin P.... Foresta C. (J. Endocrinol. Invest. 2001)
    3. Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism. (PubMed id 11095425)1, 2, 4, 9 Tomboc M....Witchel S.F. (J. Clin. Endocrinol. Metab. 2000)
    4. Genetic analysis of the INSL3 gene in patients with maldescent of the testis. (PubMed id 11182749)1, 2, 4, 9 Lim H.N....Hughes I.A. (Eur. J. Endocrinol. 2001)
    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). (PubMed id 8020942)1, 2, 3, 9 Burkhardt E....Engel W. (Genomics 1994)
    6. Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism. (PubMed id 17028442)1, 4, 9 Yamazawa K....Ogata T. (Horm. Res. 2007)
    7. Solution structure of a conformationally restricted fully active derivative of the human relaxin-like factor. (PubMed id 19086273)1, 2, 9 Bullesbach E.E.... Led J.J. (Biochemistry 2008)
    8. Insulin-like factor 3 gene mutations in testicular dysgenesis syndrome: clinical and functional characterization. (PubMed id 16687567)1, 4, 9 Ferlin A....Foresta C. (Mol. Hum. Reprod. 2006)
    9. A common polymorphism in the human relaxin-like factor (RLF) gene: no relationship with cryptorchidism. (PubMed id 10759163)1, 2, 9 Koskimies P.... Toppari J. (Pediatr. Res. 2000)
    10. Mutations in INSL3 and RXFP2 genes in cryptorchid boys. (PubMed id 19416190)1, 4, 9 Ferlin A....Foresta C. (Ann. N. Y. Acad. Sci. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 3640 HGNC: 6086 AceView: INSL3 Ensembl:ENSG00000248099 euGenes: HUgn3640
    ECgene: INSL3 H-InvDB: INSL3

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for INSL3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for INSL3 gene:
    Search GeneIP for patents involving INSL3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Recombinant/Natural Proteins for INSL3 (INSL3)   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for INSL3  
     OriGene qPCR primer pairs and template standards for INSL3   OriGene Protein Over-expression Lysate for INSL3  
     OriGene MassSpec something-or-other for INSL3   OriGene clones in human, mouse for INSL3  
     OriGene qSTAR qPCR primer pairs in human, mouse for INSL3   OriGene Purified Protein for INSL3  
     OriGene ORF clones in mouse, rat for INSL3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for INSL3   OriGene Custom Protein Services for INSL3  

     
     
     Block miRNA regulation of human, mouse, rat INSL3 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing INSL3
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat INSL3 Predesigned siRNA for gene silencing in human, mouse, rat INSL3
     QuantiFast Probe-based Assays in human, mouse, rat INSL3 QuantiTect SYBR Green Assays in human, mouse, rat INSL3
     PCR Arrays including human, mouse, rat INSL3 Search Chromatin IP Primers for INSL3
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat INSL3  GeneGlobe Interaction Network for INSL3
     Regulatory tfbs in INSL3 promoter
     GenScript Custom Purified and Recombinant Proteins Services for INSL3 GenScript cDNA clones with any tag delivered in your preferred vector for INSL3
     GenScript Custom Assay Services for INSL3 GenScript Custom overexpressing Cell Line Services for INSL3
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for INSL3
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for INSL3
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     INSL3 antibodies
     INSL3 lysates
     Antibodies for INSL3
     See all of Abcam's Antibodies, Kits and Proteins for INSL3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for INSL3
     Antibodies for INSL3
     ELISAs for INSL3
     CLIAs for INSL3



     Browse ESI BIO Cell Lines and PureStem Progenitors for INSL3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INSL3
     SwitchGear 3'UTR luciferase reporter plasmids for INSL3
     SwitchGear Promoter luciferase reporter plasmids for INSL3
     Search ThermoFisher Antibodies for INSL3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INSL3
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for INSL3
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for INSL3
     LSBio Antibodies in human, mouse, rat for INSL3
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      INSL3 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4