Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6514
Gene name	Solute carrier family 2 member 2
Gene symbol	SLC2A2
Synonyms (NCBI Gene)	GLUT2
Chromosome	3
Chromosome location	3q26.2
Summary	This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been sug

Show/Hide all (22)

SNP ID	Visualize variation	Clinical significance	Consequence
rs5397	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, synonymous variant
rs28928874	A>T	Pathogenic	Missense variant, coding sequence variant
rs76362149	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121909741	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121909742	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs121909743	G>A	Pathogenic	Stop gained, coding sequence variant
rs121909744	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121909745	C>T	Pathogenic	Stop gained, coding sequence variant
rs121909746	G>A	Pathogenic	Stop gained, coding sequence variant
rs121909747	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs371977235	C>T	Pathogenic	Splice donor variant
rs756874949	C>T	Pathogenic	Splice donor variant
rs769888108	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1114167428	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553784980	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553784995	C>T	Affects	Stop gained, coding sequence variant
rs1553785033	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553785722	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553786361	C>G	Likely-pathogenic	Splice acceptor variant
rs1560033414	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1560035336	AAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576838294	T>C	Pathogenic	Intron variant, splice acceptor variant

Show/Hide all (44)

miRTarBase ID	miRNA	Experiments
MIRT1358750	hsa-miR-1252	CLIP-seq
MIRT1358751	hsa-miR-3143	CLIP-seq
MIRT1358752	hsa-miR-345	CLIP-seq
MIRT1358753	hsa-miR-3617	CLIP-seq
MIRT1358754	hsa-miR-3662	CLIP-seq
MIRT1358755	hsa-miR-4303	CLIP-seq
MIRT1358756	hsa-miR-4682	CLIP-seq
MIRT1358757	hsa-miR-4694-3p	CLIP-seq
MIRT1358758	hsa-miR-4762-3p	CLIP-seq
MIRT1358759	hsa-miR-4796-5p	CLIP-seq
MIRT1358760	hsa-miR-512-3p	CLIP-seq
MIRT1358761	hsa-miR-522	CLIP-seq
MIRT1358762	hsa-miR-641	CLIP-seq
MIRT1358763	hsa-miR-654-3p	CLIP-seq
MIRT1358764	hsa-miR-7	CLIP-seq
MIRT2106229	hsa-miR-4282	CLIP-seq
MIRT2106230	hsa-miR-548a-5p	CLIP-seq
MIRT2106231	hsa-miR-548ab	CLIP-seq
MIRT2106232	hsa-miR-548ak	CLIP-seq
MIRT2106233	hsa-miR-548b-5p	CLIP-seq
MIRT2106234	hsa-miR-548c-5p	CLIP-seq
MIRT2106235	hsa-miR-548d-5p	CLIP-seq
MIRT2106236	hsa-miR-548h	CLIP-seq
MIRT2106237	hsa-miR-548i	CLIP-seq
MIRT2106238	hsa-miR-548j	CLIP-seq
MIRT2106239	hsa-miR-548n	CLIP-seq
MIRT2106240	hsa-miR-548w	CLIP-seq
MIRT2106241	hsa-miR-548y	CLIP-seq
MIRT2106242	hsa-miR-559	CLIP-seq
MIRT2330568	hsa-miR-3121-3p	CLIP-seq
MIRT2330569	hsa-miR-3124-3p	CLIP-seq
MIRT2330570	hsa-miR-3140-3p	CLIP-seq
MIRT2330571	hsa-miR-3180-5p	CLIP-seq
MIRT2330572	hsa-miR-3647-3p	CLIP-seq
MIRT2330573	hsa-miR-622	CLIP-seq
MIRT2330574	hsa-miR-665	CLIP-seq
MIRT2459659	hsa-miR-2116	CLIP-seq
MIRT2459660	hsa-miR-4273	CLIP-seq
MIRT2459661	hsa-miR-4677-5p	CLIP-seq
MIRT2459662	hsa-miR-578	CLIP-seq
MIRT2459659	hsa-miR-2116	CLIP-seq
MIRT2459660	hsa-miR-4273	CLIP-seq
MIRT2459661	hsa-miR-4677-5p	CLIP-seq
MIRT2459662	hsa-miR-578	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005353	Function	Fructose transmembrane transporter activity	IDA	8457197, 23396969, 28083649, 29548810
GO:0005354	Function	Galactose transmembrane transporter activity	IDA	8457197
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	28083649
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8027028
GO:0005903	Component	Brush border	IBA
GO:0005903	Component	Brush border	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005975	Process	Carbohydrate metabolic process	TAS	8027028
GO:0015149	Function	Hexose transmembrane transporter activity	TAS
GO:0015755	Process	Fructose transmembrane transport	IDA	8457197, 23396969, 28083649, 29548810
GO:0015757	Process	Galactose transmembrane transport	IDA	8457197
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8027028
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0033300	Function	Dehydroascorbic acid transmembrane transporter activity	IDA	23396969
GO:0033300	Function	Dehydroascorbic acid transmembrane transporter activity	IEA
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0046323	Process	D-glucose import	IBA
GO:0055056	Function	D-glucose transmembrane transporter activity	IBA
GO:0055056	Function	D-glucose transmembrane transporter activity	IDA	8457197, 23396969, 28083649, 29548810
GO:0055056	Function	D-glucose transmembrane transporter activity	IEA
GO:0055056	Function	D-glucose transmembrane transporter activity	TAS	8027028
GO:0055085	Process	Transmembrane transport	IEA
GO:0070837	Process	Dehydroascorbic acid transport	IBA
GO:0070837	Process	Dehydroascorbic acid transport	IDA	23396969
GO:0070837	Process	Dehydroascorbic acid transport	IEA
GO:1904659	Process	D-glucose transmembrane transport	IDA	8457197, 23396969, 28083649, 29548810
GO:1904659	Process	D-glucose transmembrane transport	IEA
GO:1904659	Process	D-glucose transmembrane transport	TAS	8027028

MIM	HGNC	e!Ensembl
138160	11006	ENSG00000163581

P11168

Protein name

Solute carrier family 2, facilitated glucose transporter member 2 (Glucose transporter type 2, liver) (GLUT-2)

Protein function

Facilitative hexose transporter that mediates the transport of glucose, fructose and galactose (PubMed:16186102, PubMed:23396969, PubMed:28083649, PubMed:8027028, PubMed:8457197). Likely mediates the bidirectional transfer of glucose across the

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00083	Sugar_tr	13 → 499	Sugar (and other) transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Liver, insulin-producing beta cell, small intestine and kidney. {ECO:0000269|PubMed:3399500, ECO:0000269|PubMed:8457197}.

Sequence

MTEDKVTGTLVFTVITAVLGSFQFGYDIGVINAPQQVIISHYRHVLGVPLDDRKAINNYV
INSTDELPTISYSMNPKPTPWAEEETVAAAQLITMLWSLSVSSFAVGGMTASFFGGWLGD
TLGRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSISGLYCGLISGLVPMYIGEIA
PTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCP
ESPRYLYIKLDEEVKAKQSLKRLRGYDDVTKDINEMRKEREEASSEQKVSIIQLFTNSSY
RQPILVALMLHVAQQFSGINGIFYYSTSIFQTAGISKPVYATIGVGAVNMVFTAVSVFLV
EKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEIGPGPIPW
FMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFT
FFKVPETKGKSFEEIAAEFQKKSGSAHRPKAAVEMKFLGATETV

Sequence length

524

Interactions

View interactions

	KEGG		Reactome
	Insulin secretion Prolactin signaling pathway Glucagon signaling pathway Type II diabetes mellitus Insulin resistance Maturity onset diabetes of the young Carbohydrate digestion and absorption Central carbon metabolism in cancer		Cellular hexose transport Regulation of insulin secretion Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS) Intestinal hexose absorption

326

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital long QT syndrome	Pathogenic	rs121909742	RCV004732549
Fanconi-Bickel syndrome	Pathogenic; Likely pathogenic	rs1715182989, rs1350704340, rs121909741, rs1716716102, rs2108256953, rs2108244550, rs1294679246, rs763620441, rs1386374799, rs773581866, rs753980727, rs2473906350, rs761992056, rs985090030, rs2473882353 View all (27 more)	RCV001350487 RCV001783761 RCV002266019 RCV001843322 RCV001843323 RCV001843324 RCV001993134 RCV001911548 RCV001876472 RCV003094039 RCV002250958 RCV003314339 RCV003324353 RCV003338162 RCV003631705 RCV003631882 RCV000017471 RCV000017472 RCV000017473 RCV000017475 RCV000017476 RCV000017477 RCV000017479 RCV000017480 RCV000017481 RCV000017482 RCV000017483 RCV000017484 RCV003988984 RCV000490904 RCV001387331 RCV000513671 RCV000527547 RCV001060330 RCV000625589 RCV000626196 RCV000626238 RCV000702449 RCV000695619 RCV005029431 RCV001060329 RCV001054596
Glioma susceptibility 1	Pathogenic	rs121909742	RCV005887534
SLC2A2-related disorder	Likely pathogenic; Pathogenic	rs2473923727, rs2473935676, rs771799491, rs771477447, rs772999215, rs1447936042	RCV003399785 RCV003402268 RCV003404427 RCV003974835 RCV003392592 RCV004751868
Type 2 diabetes mellitus	Likely pathogenic; Pathogenic	rs763620441, rs773581866, rs121909742, rs121909743, rs2473906384, rs371977235, rs756874949, rs772999215, rs1447936042, rs1318756243	RCV005023411 RCV002246720 RCV002490379 RCV002496390 RCV005038642 RCV000511807 RCV002483654 RCV005029431 RCV002489662 RCV005029624

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Diabetes mellitus type 2, susceptibility to	Uncertain significance	rs121909741	RCV000017470
Monogenic diabetes	Benign; Likely benign; Uncertain significance	rs1800572, rs121909741, rs7637863, rs147959014, rs1715394753, rs200073044	RCV001174383 RCV000445382 RCV000664087 RCV000664086 RCV001174382 RCV001174384

Show/Hide Text Mining Associations (43)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis	Associate	25165176
Acidosis Renal Tubular	Associate	23456528
Alzheimer Disease	Associate	19749437
Anodontia	Associate	27197745
Breast Neoplasms	Associate	34525987, 8700847
Carcinoma Hepatocellular	Associate	30176945, 32181701, 33865459
Carcinoma Hepatocellular	Inhibit	31407220
Cardiovascular Diseases	Associate	23185617, 23341889
Cholangiocarcinoma	Associate	18271924
Dental Caries	Associate	31261961
Dermatitis Atopic	Stimulate	29677207
Diabetes Mellitus	Stimulate	11804845
Diabetes Mellitus	Associate	29624224, 32146263, 34171785, 34215797
Diabetes Mellitus Permanent Neonatal	Associate	31441606
Diabetes Mellitus Transient Neonatal 1	Associate	22696037, 34171785
Diabetes Mellitus Type 1	Associate	31728565
Diabetes Mellitus Type 2	Associate	11804845, 14551916, 18678618, 23185617, 25368101, 35140900
Diabetic Ketoacidosis	Associate	23456528, 29602453
Diabetic Nephropathies	Associate	34215202, 36314849
Fanconi Syndrome	Associate	23456528, 24912437, 25165176, 27771652, 29624224, 32146263, 34171785, 34215797, 34728514, 35663312
Glucose Intolerance	Associate	29624224
Hepatitis C	Associate	22993150
Hypercalciuria	Associate	27771652
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	25776730
Inflammation	Stimulate	29677207
Insulin Resistance	Associate	27433090
Ketosis	Associate	25165176
Lactate dehydrogenase deficiency type A	Associate	29624224
Liver Neoplasms	Associate	30176945
Maturity Onset Diabetes of the Young Type 3	Associate	34035238
Meningomyelocele	Associate	25776730
Metabolic Syndrome	Associate	37816730
Monosomy	Inhibit	33302435
Mood Disorders	Associate	23010768
Neoplasms	Associate	31407220, 32181701, 34215797
Neural Tube Defects	Associate	25776730
Prostatic Neoplasms	Associate	20142250
Pulmonary Atresia	Associate	31261244
Rickets Hypophosphatemic	Associate	23456528
Sleep Apnea Obstructive	Associate	33530245
Squamous Cell Carcinoma of Head and Neck	Associate	37542344
Uveal melanoma	Associate	33302435
Virus Diseases	Associate	25165176

SLC2A2 (solute carrier family 2 member 2)