The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. [provided by RefSe... See more...

Aliases for INSL6 Gene

Aliases for INSL6 Gene

  • Insulin Like 6 2 3 5
  • Relaxin/Insulin-Like Factor 1 2 3 4
  • RIF1 2 3 4
  • Insulin-Like Peptide INSL6 3 4
  • Insulin-Like Peptide 6 3 4
  • Insulin-Like Peptide 5 3
  • Insulin-Like 6 2
  • INSL6 5

External Ids for INSL6 Gene

Previous GeneCards Identifiers for INSL6 Gene

  • GC09M005317
  • GC09M005145
  • GC09M005153
  • GC09M005119
  • GC09M005163
  • GC09M005141

Summaries for INSL6 Gene

Entrez Gene Summary for INSL6 Gene

  • The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. [provided by RefSeq, Jul 2008]

GeneCards Summary for INSL6 Gene

INSL6 (Insulin Like 6) is a Protein Coding gene. Diseases associated with INSL6 include Thrombocythemia 3 and Lymphoblastic Leukemia, Acute, With Lymphomatous Features. Gene Ontology (GO) annotations related to this gene include hormone activity. An important paralog of this gene is RLN1.

UniProtKB/Swiss-Prot Summary for INSL6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for INSL6 Gene

Genomics for INSL6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for INSL6 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
GH09J005186 Enhancer 0.8 Ensembl ENCODE 600.7 -1.0 -992 0.6 CTCF PRDM1 REST RAD21 SCRT2 CTBP1 SMC3 SCRT1 GATA3 ZNF654 INSL6 INSL4 PLGRKT ENSG00000237553 lnc-INSL6-2
GH09J005185 Promoter 0.3 EPDnew 600.7 +0.0 48 0.1 INSL6 piR-46847-277 LOC107987044
GH09J004996 Promoter/Enhancer 0.6 EPDnew Ensembl 4.9 +189.0 188977 2.5 MZF1 RF00017-7408 JAK2 INSL6 MTND6P5 LOC107987044
GH09J005086 Enhancer 0.2 FANTOM5 1.3 +99.4 99427 0.4 PDSS1P1 lnc-INSL6-3 JAK2 INSL4 CD274 INSL6 CDC37L1 MTND6P5 lnc-INSL4-10 LOC107987044
GH09J005231 Promoter 0.7 EPDnew 0.3 -45.7 -45693 0.1 REST SP1 NR3C1 FOSL2 SIN3A POLR2A TAF1 INSL4 piR-37170-072 INSL6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INSL6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for INSL6

Top Transcription factor binding sites by QIAGEN in the INSL6 gene promoter:
  • CUTL1
  • E2F
  • E2F-1
  • IRF-7A
  • Lhx3a
  • LHX3b
  • Pax-2
  • Pax-2a
  • Pax-2b
  • Pax-4a

Genomic Locations for INSL6 Gene

Genomic Locations for INSL6 Gene
chr9:4,992,409-5,185,707
(GRCh38/hg38)
Size:
193,299 bases
Orientation:
Minus strand
chr9:5,131,979-5,185,668
(GRCh37/hg19)
Size:
53,690 bases
Orientation:
Minus strand

Genomic View for INSL6 Gene

Genes around INSL6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INSL6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INSL6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INSL6 Gene

Proteins for INSL6 Gene

  • Protein details for INSL6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y581-INSL6_HUMAN
    Recommended name:
    Insulin-like peptide INSL6
    Protein Accession:
    Q9Y581
    Secondary Accessions:
    • A0AVS0
    • Q9NS16

    Protein attributes for INSL6 Gene

    Size:
    213 amino acids
    Molecular mass:
    24860 Da
    Quaternary structure:
    No Data Available

neXtProt entry for INSL6 Gene

Post-translational modifications for INSL6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for INSL6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for INSL6 Gene

Domains & Families for INSL6 Gene

Gene Families for INSL6 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for INSL6 Gene

InterPro:
Blocks:
  • Insulin/IGF/relaxin
ProtoNet:

Suggested Antigen Peptide Sequences for INSL6 Gene

GenScript: Design optimal peptide antigens:
  • Relaxin/insulin-like factor 1 (INSL6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y581

UniProtKB/Swiss-Prot:

INSL6_HUMAN :
  • Belongs to the insulin family.
Family:
  • Belongs to the insulin family.
genes like me logo Genes that share domains with INSL6: view

Function for INSL6 Gene

Molecular function for INSL6 Gene

UniProtKB/Swiss-Prot Function:
May have a role in sperm development and fertilization.
GENATLAS Biochemistry:
insulin-like 6,expressed in the testis

Phenotypes From GWAS Catalog for INSL6 Gene

Gene Ontology (GO) - Molecular Function for INSL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity NAS 10598589
genes like me logo Genes that share ontologies with INSL6: view
genes like me logo Genes that share phenotypes with INSL6: view

Animal Models for INSL6 Gene

MGI Knock Outs for INSL6:

Animal Model Products

  • Taconic Biosciences Mouse Models for INSL6

CRISPR Products

miRNA for INSL6 Gene

miRTarBase miRNAs that target INSL6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INSL6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for INSL6 Gene

Localization for INSL6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for INSL6 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 INSL6 gene
Compartment Confidence
extracellular 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for INSL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with INSL6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for INSL6 Gene

Pathways & Interactions for INSL6 Gene

PathCards logo

SuperPathways for INSL6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for INSL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with INSL6: view

No data available for Pathways by source and SIGNOR curated interactions for INSL6 Gene

Drugs & Compounds for INSL6 Gene

No Compound Related Data Available

Transcripts for INSL6 Gene

mRNA/cDNA for INSL6 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INSL6

Alternative Splicing Database (ASD) splice patterns (SP) for INSL6 Gene

No ASD Table

Relevant External Links for INSL6 Gene

GeneLoc Exon Structure for
INSL6

Expression for INSL6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for INSL6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for INSL6 Gene

This gene is overexpressed in Testis (x47.1).

Protein differential expression in normal tissues from HIPED for INSL6 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for INSL6 Gene



Protein tissue co-expression partners for INSL6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for INSL6

SOURCE GeneReport for Unigene cluster for INSL6 Gene:

Hs.632648

mRNA Expression by UniProt/SwissProt for INSL6 Gene:

Q9Y581-INSL6_HUMAN
Tissue specificity: Testis specific.
genes like me logo Genes that share expression patterns with INSL6: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for INSL6 Gene

Orthologs for INSL6 Gene

This gene was present in the common ancestor of mammals.

Orthologs for INSL6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia INSL6 30 31
  • 99.06 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia INSL6 30 31
  • 80.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia INSL6 30 31
  • 79.23 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Insl6 30 17 31
  • 67.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Insl6 30
  • 65.1 (n)
Species where no ortholog for INSL6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (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 INSL6 Gene

ENSEMBL:
Gene Tree for INSL6 (if available)
TreeFam:
Gene Tree for INSL6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for INSL6: view image

Paralogs for INSL6 Gene

Paralogs for INSL6 Gene

genes like me logo Genes that share paralogs with INSL6: view

Variants for INSL6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for INSL6 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
711042 Likely Benign: not provided 5,164,266(-) C/T SPLICE_ACCEPTOR_VARIANT
713512 Benign: not provided 5,066,786(-) C/T SYNONYMOUS_VARIANT
717707 Likely Benign: not provided 5,069,054(-) G/A SYNONYMOUS_VARIANT
719807 Likely Benign: not provided 5,066,729(-) G/C SYNONYMOUS_VARIANT
721421 Benign: not provided 5,050,796(-) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for INSL6 Gene

Structural Variations from Database of Genomic Variants (DGV) for INSL6 Gene

Variant ID Type Subtype PubMed ID
dgv2127e212 CNV gain 25503493
dgv7384n100 CNV gain 25217958
esv2764165 CNV gain+loss 21179565
esv3619370 CNV loss 21293372
nsv466100 CNV gain 19166990
nsv525777 CNV loss 19592680
nsv527495 CNV gain 19592680
nsv613178 CNV gain 21841781
nsv613179 CNV gain 21841781
nsv613180 CNV loss 21841781
nsv831495 CNV loss 17160897

Variation tolerance for INSL6 Gene

Residual Variation Intolerance Score: 79.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.98; 68.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INSL6 Gene

Human Gene Mutation Database (HGMD)
INSL6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
INSL6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INSL6 Gene

Disorders for INSL6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for INSL6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
thrombocythemia 3
  • thcyt3
lymphoblastic leukemia, acute, with lymphomatous features
  • lall
budd-chiari syndrome
  • bdchs
myelofibrosis
  • myelofibrosis with myeloid metaplasia, somatic
cryptorchidism, unilateral or bilateral
  • undescended testis
- elite association - COSMIC cancer census association via MalaCards
Search INSL6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for INSL6

genes like me logo Genes that share disorders with INSL6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for INSL6 Gene

Publications for INSL6 Gene

  1. Identification of INSL6, a new member of the insulin family that is expressed in the testis of the human and rat. (PMID: 10819760) Lok S … Jaspers SR (Biology of reproduction 2000) 2 3 4 23
  2. Cloning of two novel mammalian paralogs of relaxin/insulin family proteins and their expression in testis and kidney. (PMID: 10598589) Hsu SY (Molecular endocrinology (Baltimore, Md.) 1999) 3 4 23
  3. A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. (PMID: 19915573) Asano K … Kubo M (Nature genetics 2009) 3 41
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for INSL6 Gene

  • Signalway ELISA kits for INSL6
  • Signalway Proteins for INSL6

Sources for INSL6 Gene