Gene Gene information from NCBI Gene database.
Entrez ID 3952
Gene name Leptin
Gene symbol LEP
Synonyms (NCBI Gene)
LEPDOBOBS
Chromosome 7
Chromosome location 7q32.1
Summary This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathwa
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs104894023 C>T Pathogenic Missense variant, coding sequence variant
rs201523305 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs724159998 G>A,T Pathogenic Coding sequence variant, missense variant
rs1554394014 T>C Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
103
miRTarBase ID miRNA Experiments Reference
MIRT1107446 hsa-miR-1207-3p CLIP-seq
MIRT1107447 hsa-miR-149 CLIP-seq
MIRT1107448 hsa-miR-155 CLIP-seq
MIRT1107449 hsa-miR-1913 CLIP-seq
MIRT1107450 hsa-miR-1914 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
CEBPA Activation 21983012
HIF1A Activation 18559540
HIF1A Unknown 19080496
KHDRBS1 Activation 21672929
SP1 Activation 18559540
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
153
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0001525 Process Angiogenesis IDA 19910644, 21771332
GO:0001542 Process Ovulation from ovarian follicle IEA
GO:0001666 Process Response to hypoxia IEA
GO:0001819 Process Positive regulation of cytokine production IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164160 6553 ENSG00000174697
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P41159
Protein name Leptin (Obese protein) (Obesity factor)
Protein function Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pat
PDB 1AX8 , 7Z3Q , 8AVE , 8AVF , 8AVO , 8K6Z , 8X80 , 8X81 , 8X85
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02024 Leptin 23 167 Leptin Domain
Tissue specificity TISSUE SPECIFICITY: Adipose tissue is the main source of leptin. It is also produced by other peripheral tissues such as the skeletal muscle (PubMed:12448771, PubMed:16052473, PubMed:7789654). Expressed by intercalated and striated tracts of submandibular
Sequence
Sequence length 167
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
Neuroactive ligand-receptor interaction
Hormone signaling
AMPK signaling pathway
JAK-STAT signaling pathway
Adipocytokine signaling pathway
Non-alcoholic fatty liver disease
  Transcriptional regulation of white adipocyte differentiation
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
Synthesis, secretion, and deacylation of Ghrelin
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
159
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
LEP-related disorder Likely pathogenic rs28954113 RCV004753693
Leptin dysfunction Pathogenic rs724159998, rs200575914, rs2485445933 RCV000149807
RCV003313818
RCV003313819
Obesity due to congenital leptin deficiency Pathogenic; Likely pathogenic rs200575914, rs2485445933, rs771139087, rs104894023, rs1554394014 RCV003318515
RCV003318516
RCV000015023
RCV000015024
RCV000518717
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Likely benign; Benign rs1313997167, rs13306517 RCV005935060
RCV005910032
Lung cancer Benign; Likely benign rs13306517 RCV005910033
Monogenic diabetes Benign; Likely benign rs17151919 RCV000445399
Monogenic Non-Syndromic Obesity Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs2167270, rs776318015, rs886061972, rs17151919, rs113405088, rs886061975, rs114834517, rs138289049, rs151325384, rs201701012, rs10954174, rs28959471, rs17617757, rs28959475, rs201644572
View all (25 more)
RCV000375354
RCV000371956
RCV000342914
RCV000306659
RCV000356583
RCV000295075
RCV000294350
RCV000355059
RCV000398981
RCV000387798
RCV000404055
RCV000341856
RCV000346347
RCV000348084
RCV000312019
RCV000299478
RCV000361904
RCV000327260
RCV000400996
RCV000317062
RCV000286481
RCV000262721
RCV000317286
RCV000345134
RCV000366964
RCV000383918
RCV000337688
RCV000357721
RCV000329900
RCV000280796
RCV000363529
RCV000314835
RCV000259424
RCV000290741
RCV000308092
RCV000265230
RCV000323539
RCV000284404
RCV000322398
RCV000382931
RCV000326220
RCV000317975
RCV000353830
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ablepharon macrostomia syndrome Associate 26637991
Abortion Habitual Stimulate 25935494
Abortion Habitual Associate 38275620
Abortion Spontaneous Stimulate 25450293
Abortion Spontaneous Associate 34407095
Acquired Immunodeficiency Syndrome Associate 9054474
Acromegaly Associate 28791847
Addison Disease Associate 37807083
Adenocarcinoma Associate 25857300, 30257286
Adenocarcinoma Mucinous Associate 29121911