Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3952
Gene name Gene Name - the full gene name approved by the HGNC.
Leptin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LEP
Synonyms (NCBI Gene) Gene synonyms aliases
LEPD, OB, OBS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LEPD
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
CEBPA Activation 21983012
HIF1A Activation 18559540
HIF1A Unknown 19080496
KHDRBS1 Activation 21672929
SP1 Activation 18559540
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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:0001890 Process Placenta development IDA 17957153
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
164160 6553 ENSG00000174697
Protein
UniProt ID 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
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