INSL3 (insulin like 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3640
Gene name Insulin like 3
Gene symbol INSL3
Synonyms (NCBI Gene)
RLFRLNLley-I-L
Chromosome 19
Chromosome location 19p13.11
Summary 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.
5
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.
3
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 Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
NR5A1 Unknown 23530236
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
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
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
146738 6086 ENSG00000248099
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Bilateral cryptorchidism Likely pathogenic rs757862609 RCV003127201
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cryptorchidism Pathogenic rs121912555, rs104894697, rs104894698, rs398122886 RCV000015954
RCV000015955
RCV000015956
RCV000030739
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Colorectal cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRYPTORCHIDISM, UNILATERAL OR BILATERAL — HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSL3-related disorder Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (57)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abdominal Cryptorchidism Cryptorchidism BEFREE 11383919
★★★★★
★☆☆☆☆
Found in Text Mining only
Abdominal Cryptorchidism Cryptorchidism CTD_human_DG 14687758, 16102138
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10065864
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Hyperplasia Congenital Congenital adrenal hyperplasia Pubtator 34616364 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 10519633
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 12684664
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 16010410
★★★★★
★☆☆☆☆
Found in Text Mining only
Bilateral Cryptorchidism Cryptorchidism BEFREE 10729310, 11095425, 11992081, 12601553, 17559848, 18647820, 26840636, 31611843
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral Cryptorchidism Cryptorchidism CTD_human_DG 14687758, 16102138
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C-cell hyperplasia of thyroid Thyroid Hyperplasia BEFREE 15956746
★★★★★
★☆☆☆☆
Found in Text Mining only