Gene Gene information from NCBI Gene database.
Entrez ID 54741
Gene name Leptin receptor overlapping transcript
Gene symbol LEPROT
Synonyms (NCBI Gene)
LEPROB-RGRPOBRGRPVPS55
Chromosome 1
Chromosome location 1p31.3
Summary LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby altering receptor-mediated cell signaling (Couturier e
miRNA miRNA information provided by mirtarbase database.
1048
miRTarBase ID miRNA Experiments Reference
MIRT019548 hsa-miR-340-5p Sequencing 20371350
MIRT074980 hsa-miR-548az-5p HITS-CLIP 23313552
MIRT074978 hsa-miR-548t-5p HITS-CLIP 23313552
MIRT702285 hsa-miR-4760-3p HITS-CLIP 23313552
MIRT702284 hsa-miR-4705 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005102 Function Signaling receptor binding IDA 18042720
GO:0005515 Function Protein binding IPI 18042720, 32296183
GO:0005768 Component Endosome IBA
GO:0005768 Component Endosome IDA 18042720
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613461 29477 ENSG00000213625
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15243
Protein name Leptin receptor gene-related protein (Endospanin-1) (Leptin receptor overlapping transcript protein) (OB-R gene-related protein) (OB-RGRP)
Protein function Negatively regulates leptin receptor (LEPR) cell surface expression, and thus decreases response to leptin. Negatively regulates growth hormone (GH) receptor cell surface expression in liver. May play a role in liver resistance to GH during peri
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04133 Vps55 7 124 Vacuolar protein sorting 55 Family
Tissue specificity TISSUE SPECIFICITY: Expressed at the highest levels in heart and placenta and at a lesser extent in lung, liver, skeletal muscle, kidney and pancreas.
Sequence
Sequence length 131
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
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
LUNG ADENOCARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC STEATOHEPATITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 17072067, 22836631
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 27941793
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23111975
★☆☆☆☆
Found in Text Mining only
Adenohypophyseal Diseases Pituitary Diseases CTD_human_DG 9537324
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 12354126, 18086776, 21720710, 27611607, 31572471
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 18086776, 21720710
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Neoplasms Adrenal neoplasia BEFREE 10333078
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 10333078
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 20443680
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 23895348 Associate
★☆☆☆☆
Found in Text Mining only