ENSG00000248099


Homo sapiens

Features
Gene ID: ENSG00000248099
  
Biological name :INSL3
  
Synonyms : INSL3 / insulin like 3 / P51460
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.11
Gene start: 17816512
Gene end: 17821574
  
Corresponding Affymetrix probe sets: 1553594_a_at (Human Genome U133 Plus 2.0 Array)   214400_at (Human Genome U133 Plus 2.0 Array)   214572_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000369017
Ensembl peptide - ENSP00000321724
Ensembl peptide - ENSP00000469309
NCBI entrez gene - 3640     See in Manteia.
OMIM - 146738
RefSeq - NM_005543
RefSeq - NM_001265587
RefSeq Peptide - NP_001252516
RefSeq Peptide - NP_005534
swissprot - P51460
swissprot - M0QXQ3
Ensembl - ENSG00000248099
  
Related genetic diseases (OMIM): 219050 - Cryptorchidism, 219050
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Insl3ENSMUSG00000079019Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR016179  Insulin-like
 IPR022353  Insulin, conserved site
 IPR036438  Insulin-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007267 cell-cell signaling TAS
 biological_processGO:0007283 spermatogenesis TAS
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010634 positive regulation of epithelial cell migration IDA
 biological_processGO:0090303 positive regulation of wound healing IDA
 cellular_componentGO:0005576 extracellular region TAS
 molecular_functionGO:0002020 protease binding IPI
 molecular_functionGO:0005102 signaling receptor binding TAS
 molecular_functionGO:0005158 insulin receptor binding TAS
 molecular_functionGO:0005179 hormone activity IEA


Pathways (from Reactome)
Pathway description
G alpha (s) signalling events
Relaxin receptors


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000104 Renal agenesis 
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 HP:0012741 Unilateral cryptorchidism "Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000248099 INSL3 / P51460 / insulin like 3  / complex
 ENSG00000133105 RXFP2 / Q8WXD0 / relaxin/insulin like family peptide receptor 2  / reaction / complex






 

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