Gene Gene information from NCBI Gene database.
Entrez ID 23484
Gene name Leptin receptor overlapping transcript like 1
Gene symbol LEPROTL1
Synonyms (NCBI Gene)
HSPC112Vps55my047
Chromosome 8
Chromosome location 8p12
miRNA miRNA information provided by mirtarbase database.
1025
miRTarBase ID miRNA Experiments Reference
MIRT019497 hsa-miR-148b-3p Microarray 17612493
MIRT020070 hsa-miR-375 qRT-PCR;Microarray 20584986
MIRT026914 hsa-miR-192-5p Microarray 19074876
MIRT027842 hsa-miR-98-5p Microarray 19088304
MIRT045520 hsa-miR-149-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 31515488, 32296183
GO:0005768 Component Endosome IBA
GO:0016020 Component Membrane IEA
GO:0032511 Process Late endosome to vacuole transport via multivesicular body sorting pathway IBA
GO:0042802 Function Identical protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607338 6555 ENSG00000104660
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95214
Protein name Leptin receptor overlapping transcript-like 1 (Endospanin-2)
Protein function Negatively regulates growth hormone (GH) receptor cell surface expression in liver. May play a role in liver resistance to GH during periods of reduced nutrient availability.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04133 Vps55 7 124 Vacuolar protein sorting 55 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest expression in heart, testis, adrenal gland, thymus, and spleen, and lowest expression in lung and skeletal muscle.
Sequence
Sequence length 131
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary breast ovarian cancer syndrome Uncertain significance rs779019360 RCV001374542
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 35115550
Urinary Bladder Neoplasms Associate 36658180, 40043910