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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
63
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
LEP-related disorder Likely pathogenic rs28954113 RCV004753693
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leptin dysfunction Pathogenic rs724159998, rs200575914, rs2485445933 RCV000149807
RCV003313818
RCV003313819
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity due to congenital leptin deficiency Pathogenic; Likely pathogenic rs200575914, rs2485445933, rs771139087, rs104894023, rs1554394014 RCV003318515
RCV003318516
RCV000015023
RCV000015024
RCV000518717
★★★★★
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
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE CHRONIC HEPATITIS Disgenet
★★☆☆☆
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
AA amyloidosis AA amyloidosis BEFREE 29364741
★☆☆☆☆
Found in Text Mining only
Ablepharon macrostomia syndrome Ablepharon macrostomia syndrome Pubtator 26637991 Associate
★☆☆☆☆
Found in Text Mining only
Acanthosis Nigricans Acanthosis Nigricans BEFREE 16449022, 28081576
★☆☆☆☆
Found in Text Mining only
Acne Acne BEFREE 26860691, 29872305
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 26860691, 29872305
★☆☆☆☆
Found in Text Mining only
Acquired partial lipodystrophy Acquired Partial Lipodystrophy BEFREE 28371314
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly Pubtator 28791847 Associate
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 31361303
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 20157255
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 20174754
★☆☆☆☆
Found in Text Mining only