INSL3 (insulin like 3)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3640
Gene name Gene Name - the full gene name approved by the HGNC.
Insulin like 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
INSL3
Synonyms (NCBI Gene) Gene synonyms aliases
RLF, RLNL, ley-I-L
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
Summary Summary of gene provided in NCBI Entrez 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 fertil
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs104894697 G>A,C Pathogenic Coding sequence variant, missense variant
rs104894698 G>A Pathogenic Coding sequence variant, missense variant, synonymous variant
rs121912555 G>A,C Pathogenic Synonymous variant, coding sequence variant, missense variant
rs121912556 C>T Pathogenic Coding sequence variant, missense variant
rs398122886 G>A Pathogenic Stop gained, coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT2248685 hsa-miR-1915 CLIP-seq
MIRT2248686 hsa-miR-3663-3p CLIP-seq
MIRT2248687 hsa-miR-4726-3p CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
NR5A1 Unknown 23530236
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0001664 Function G protein-coupled receptor binding IBA 21873635
GO:0002020 Function Protease binding IPI 20082125
GO:0005102 Function Signaling receptor binding TAS 8020942
GO:0005158 Function Insulin receptor binding TAS 8253799
GO:0005179 Function Hormone activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
146738 6086 ENSG00000248099
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P51460
Protein name Insulin-like 3 (Leydig insulin-like peptide) (Ley-I-L) (Relaxin-like factor) [Cleaved into: Insulin-like 3 B chain; Insulin-like 3 A chain]
Protein 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.
PDB 2H8B , 2K6T , 2K6U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00049 Insulin 31 → 129 Insulin/IGF/Relaxin family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in prenatal and postnatal Leydig cells. Found as well in the corpus luteum, trophoblast, fetal membranes and breast. {ECO:0000269|PubMed:7852540}.
Sequence
Sequence length 131
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Neuroactive ligand-receptor interaction
Relaxin signaling pathway 		  G alpha (s) signalling events
Relaxin receptors
ADORA2B mediated anti-inflammatory cytokines production
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Cryptorchidism Cryptorchidism, Bilateral Cryptorchidism, Unilateral Cryptorchidism, Abdominal Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886 14687758, 11095425, 16102138, 11746019, 12601553
Show/Hide Text Mining Associations (12)
Associations from Text Mining
Disease Name Relationship Type References
Adrenal Hyperplasia Congenital Associate 34616364
Adrenal Rest Tumor Associate 34616364
Cryptorchidism Associate 16926383, 17559848, 24826892, 26209787, 29615365
HIV Infections Associate 33692804
Hypogonadism Associate 18433302
Immunologic Deficiency Syndromes Associate 18433302
Klinefelter Syndrome Associate 21307139, 31739598, 38027184
Melanosis Associate 38027184
Neoplasms Associate 30914738, 37068116
Osteoporosis Associate 18433302