Slc2a4 (GeneID: 20528) | Mus musculus
Description: solute carrier family 2 (facilitated glucose transporter), member 4 [Source:MGI Symbol;Acc:MGI:95758]
Synonyms: twgy, Glut-4, GT2, Glut4
Other ID(s): MGI:95758, ENSMUSG00000018566
Protein Accession Numbers: NP_001346043, XP_030101585, XP_006532716, XP_006532718, NP_033230, XP_006532717
Statistics: ClinVar(2) gnomAD(492) COSMIC(143) PTM(6)
ClinVar Pathogenicity of Variations help
Benign
VUS
50%50%10010090908080707060605050404030302020101000
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∙ 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.
ENST00000317370 You are here now! ENST00000424875 ENST00000570783 ENST00000571308 ENST00000572485 NP_001033 You are here now!


import_contactsClinVar Data

healinggnomAD
Frameshift Variant
Inframe Deletion
Missense Variant
Splice Region Variant
Stop Gained
Synonymous Variant
2%62%2%2%31%10010090908080707060605050404030302020101000
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placePost-translational Modifications (PTMs)
100%10010090908080707060605050404030302020101000
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blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Insertion - Frameshift
Substitution - Coding Silent
Substitution - Missense
Substitution - Nonsense
Unknown
24%43%2%31%10010090908080707060605050404030302020101000
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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
PF00083 Sugar_tr Sugar (and other) transporter 27-483 CL0015 MFS Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alloxan Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.564 0.586
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.564 0.586
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.564 0.586
Diabetes Mellitus, Experimental Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.564 0.586
Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.564 0.586
Cardiomegaly Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.564 0.586
Insulin Resistance Nutritional and Metabolic Diseases ; 0.564 0.586
Streptozotocin Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.564 0.586
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.564 0.586
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.564 0.586
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.564 0.586
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.564 0.586
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.564 0.586
Insulin Sensitivity Nutritional and Metabolic Diseases ; 0.564 0.586
Cardiac Hypertrophy Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.564 0.586
INSULIN RESISTANCE, SUSCEPTIBILITY TO N/A 0.564 0.586
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST N/A 0.564 0.586
NO RESULT FOUND
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