Lep (GeneID: 16846) | Mus musculus
Description: leptin [Source:MGI Symbol;Acc:MGI:104663]
Synonyms: ob, obese
Other ID(s): MGI:104663, ENSMUSG00000059201
Protein Accession Numbers: XP_006505062, NP_032519
Statistics: ClinVar(18) gnomAD(139) COSMIC(91) PTM(1)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000308868 You are here now! NP_000221 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF02024 Leptin Leptin 23-167 CL0053 4H_Cytokine Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alcoholic Intoxication, Chronic Chemically-Induced Disorders ; Mental Disorders ; 0.4 0.793
Alloxan Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.4 0.793
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.4 0.793
Arthritis, Adjuvant-Induced Musculoskeletal Diseases ; 0.4 0.793
Autistic Disorder Mental Disorders ; 0.4 0.793
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.4 0.793
Malignant tumor of colon Neoplasms ; Digestive System Diseases ; 0.4 0.793
Colonic Neoplasms Neoplasms ; Digestive System Diseases ; 0.4 0.793
Crohn Disease Digestive System Diseases ; 0.4 0.793
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.4 0.793
Mental Depression Behavior and Behavior Mechanisms ; 0.4 0.793
Depressive disorder Mental Disorders ; 0.4 0.793
Diabetes Mellitus, Experimental Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.4 0.793
Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.4 0.793
Fatty Liver Digestive System Diseases ; 0.4 0.793
Heroin Dependence Chemically-Induced Disorders ; 0.4 0.793
Hypercholesterolemia Nutritional and Metabolic Diseases ; 0.4 0.793
Hyperinsulinism Nutritional and Metabolic Diseases ; 0.4 0.793
Hyperphagia Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Hyperplasia Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Hypertensive disease Cardiovascular Diseases ; 0.4 0.793
Hypogonadism Endocrine System Diseases ; 0.4 0.793
Female infertility Female Urogenital Diseases and Pregnancy Complications ; 0.4 0.793
Inflammation Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Insulin Resistance Nutritional and Metabolic Diseases ; 0.4 0.793
Jacksonian Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.4 0.793
Nerve Degeneration Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Obesity Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Obesity, Morbid Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Polycystic Ovary Syndrome Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.4 0.793
Polyuria Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.4 0.793
Proteinuria Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Psychotic Disorders Mental Disorders ; 0.4 0.793
Schizophrenia Mental Disorders ; 0.4 0.793
Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Sterility, Postpartum Female Urogenital Diseases and Pregnancy Complications ; 0.4 0.793
Gastric ulcer Digestive System Diseases ; 0.4 0.793
Streptozotocin Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.4 0.793
Tachycardia Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Weight Gain Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Tachyarrhythmia Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Gestational Diabetes Female Urogenital Diseases and Pregnancy Complications ; Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.4 0.793
Polydipsia Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Oral Ulcer Stomatognathic Diseases ; 0.4 0.793
Complex partial seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Crohn's disease of large bowel Digestive System Diseases ; 0.4 0.793
Chronic schizophrenia N/A 0.4 0.793
Generalized seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Seizures, Clonic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Alcohol withdrawal syndrome N/A 0.4 0.793
Hepatitis, Autoimmune Digestive System Diseases ; Immune System Diseases ; 0.4 0.793
Crohn's disease of the ileum Digestive System Diseases ; 0.4 0.793
Visual seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Tonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Epileptic drop attack Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Hypogonadotropic hypogonadism Endocrine System Diseases ; 0.4 0.793
Impaired glucose tolerance Nutritional and Metabolic Diseases ; 0.4 0.793
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.4 0.793
Subfertility, Female Female Urogenital Diseases and Pregnancy Complications ; 0.4 0.793
Nonorganic psychosis N/A 0.4 0.793
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.4 0.793
Non-alcoholic Fatty Liver Disease Digestive System Diseases ; 0.4 0.793
Seizures, Somatosensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Seizures, Auditory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Olfactory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Gustatory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Vertiginous seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.4 0.793
Tonic - clonic seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Metabolic Syndrome X Nutritional and Metabolic Diseases ; 0.4 0.793
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.4 0.793
Craving for alcohol N/A 0.4 0.793
Regional enteritis Digestive System Diseases ; 0.4 0.793
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.4 0.793
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.4 0.793
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.4 0.793
Non-epileptic convulsion Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Single Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Atonic Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Convulsive Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Seizures, Focal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Seizures, Sensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Female sterility Female Urogenital Diseases and Pregnancy Complications ; 0.4 0.793
Insulin Sensitivity Nutritional and Metabolic Diseases ; 0.4 0.793
Primary hypogonadism Endocrine System Diseases ; 0.4 0.793
IIeocolitis Digestive System Diseases ; 0.4 0.793
Arthritis, Collagen-Induced Musculoskeletal Diseases ; 0.4 0.793
Arthritis, Experimental Musculoskeletal Diseases ; 0.4 0.793
Sclerocystic Ovaries Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.4 0.793
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.4 0.793
Endogenous Hyperinsulinism Nutritional and Metabolic Diseases ; 0.4 0.793
Exogenous Hyperinsulinism Nutritional and Metabolic Diseases ; 0.4 0.793
Compensatory Hyperinsulinemia Nutritional and Metabolic Diseases ; 0.4 0.793
Weight decreased Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Major Depressive Disorder Mental Disorders ; 0.4 0.793
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.4 0.793
Steatohepatitis Digestive System Diseases ; 0.4 0.793
Nonalcoholic Steatohepatitis Digestive System Diseases ; 0.4 0.793
Hypogonadism, Isolated Hypogonadotropic Endocrine System Diseases ; 0.4 0.793
Nonepileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
LEPTIN DEFICIENCY OR DYSFUNCTION N/A 0.4 0.793
Convulsions Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Epileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Myoclonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
Heroin Smoking Chemically-Induced Disorders ; 0.4 0.793
Generalized Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.4 0.793
NO RESULT FOUND
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