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#1OMIM Entry - * 138160 - SOLUTE CARRIER FAMILY 2 ...
138160 - SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 2; SLC2A2 - GLUCOSE TRANSPORTER 2; GLUT2;; GLUCOSE TRANSPORTER, LIVER/ISLET ...
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#2OMIM Entry - # 227810 - FANCONI-BICKEL SYNDROME; FBS
MIM number, Inheritance, Phenotype mapping key, Gene/Locus, Gene/Locus MIM number. 3q26.2, Fanconi-Bickel syndrome, 227810, AR, 3, SLC2A2, 138160 ...
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#3OMIM Entry - * 138170 - SOLUTE CARRIER FAMILY 2 ...
The mRNA levels encoding glucose transporter (see SLC2A1; 138140 and SLC2A2; 138160) are very low in skeletal muscle, an important site of peripheral ...
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#4OMIM Entry - # 125853 - TYPE 2 DIABETES MELLITUS; T2D
3q26.2, {Diabetes mellitus, noninsulin-dependent}, 125853, AD, 3, SLC2A2, 138160 · 3q27.2, {Diabetes mellitus, noninsulin-dependent, susceptibility to} ...
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#5OMIM Entry - * 605245 - SOLUTE CARRIER FAMILY 2 ...
... embryos had been attributed to the known facilitative glucose transporters GLUT1 (SLC2A1; 138140), GLUT2 (SLC2A2; 138160), and GLUT3 (SLC2A3; 138170).
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#6[SLC2A2 gene analysis in three Chinese children ... - PubMed
由 W Wang 著作 · 2015 · 被引用 4 次 — Fanconi-Bickel syndrome (FBS, OMIM 227810), a rare autosomal recessive disorder of carbohydrate metabolism, is caused by SLC2A2 (GLUT2) mutations.
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#7The SLC2A2 gene homepage - Global Variome shared LOVD
Gene symbol, SLC2A2 ... PubMed articles, SLC2A2. OMIM - Gene, 138160. OMIM - Diseases, FBS (Fanconi-Bickel syndrome (FBS))
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#8SLC2A2 Analysis for Fanconi-Bickel Syndrome - UChicago ...
SLC2A2 [OMIM#138160] encodes for the facilitative glucose transporter GLUT2. Mutations in SLC2A2 associated with FBS lead to.
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#9Fanconi-Bickel Syndrome (SLC2A2 Gene) [#2782] - Duzen ...
Related Disease(s), Gene Name(s) · SLC2A2 (OMIM #138160); ; Synonym. Glycogen Storage Disease XI;. SLC2A2 Gene Mutations;. Solute Carrier Family 2 ...
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#10Slc2a2 MGI Mouse Gene Detail - MGI:1095438 - solute carrier ...
View mouse Slc2a2 Chr3:28752052-28782510 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression.
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#11Slc2a2 Mouse Gene Details | solute carrier family 2 (facilitated ...
Data for gene Slc2a2 is all freely available for download. ... Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance, OMIM:125853.
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#12Xenbase Gene Catalog - slc2a2 Summary [species
Orthology. Knowledgebases, Entrez Gene, Genetic Phenotypes, Gene Expression ; human. HGNC,AGR, Monarch, OMIM,GeneCards · SLC2A2 · OMIM · Ensembl, Allen Brain ...
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#13BCS1L mutations produce Fanconi syndrome with ... - Nature
(OMIM#615605) [3], SLC2A2 (OMIM#227810) [4], HNF4A. (OMIM#616026) [5], and GATM (OMIM#134600) [6]. Mitochondrial diseases also cause Fanconi ...
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#14Gene: SLC2A2 (Ketotic hypoglycaemia) - Genomics England ...
Comment on list classification: Promoted from amber to green due to expert review, and evidence on OMIM for association with Fanconi-Bickel syndrome (glycogen ...
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#15Slc2a2 (solute carrier family 2 member 2) - Rat Genome ...
Imported Disease Annotations - OMIM ... Catechin inhibits the reaction [Glucose results in decreased expression of SLC2A2 protein], CTD, PMID:24262486.
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#16Solute carrier family 2, facilitated glucose transporter member 2
SLC2A2. Organism. Homo sapiens (Human) ... R-HSA-5619098, Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS) ... Related information in OMIM ...
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#17SLC2A2 Gene - GeneCards | GTR2 Protein | GTR2 Antibody
Complete information for SLC2A2 gene (Protein Coding), ... HGNC: 11006; NCBI Entrez Gene: 6514; Ensembl: ENSG00000163581; OMIM®: 138160 ...
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#18slc2a2 - ZFIN Gene
Orthologous to human SLC2A2 (solute carrier family 2 member 2). Genome Resources ... Disease Ontology Term, Multi-Species Data, OMIM Term, OMIM Phenotype ID ...
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#19genes - MDPI
... OMIM #227810) is a rare autosomal recessive disorder of carbohydrate metabolism caused by pathogenic variants in the GLUT2 (SLC2A2) gene ...
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#20KEGG T01001: 6514
N00819, Mutation-inactivated SLC2A2 to transport of glucose ... 6514 (SLC2A2) 04922 Glucagon signaling pathway 6514 (SLC2A2) ... OMIM: 138160 ...
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#21Glucose Transporter 2 / GLUT2 (SLC2A2) Antibody | Abbexa Ltd
Glucose Transporter 2 / GLUT2 (SLC2A2) Antibody is a Rabbit Monoclonal against Glucose Transporter 2 / GLUT2 (SLC2A2). ... OMIM, 138160.
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#22Genetics of Neonatal Diabetes Mellitus
(Facilitated Glucose Transporter), Member 2 (SLC2A2,. OMIM*138160) gene, mapped on chromosome 3q26.1-. 26.3, which encodes glucose transporter protein 2.
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#23MetaCyc SLC2A2 - BioCyc
UniGene, 167584 ; UniProt, P11168 ; Relationship Links ; InterPro In-Family, IPR002440, IPR003663, IPR005828, IPR005829, IPR020846, IPR036259 ; OMIM ...
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#24Modeling of Environmental Effects in Genome-Wide ... - PLOS
In our analysis, we could identify two genetic loci in the SLC2A2 (Glucose ... with energy metabolism (http://www.ncbi.nlm.nih.gov/omim/).
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#25SLC2A2 - Orphanet
SLC2A2 - solute carrier family 2 member 2 ; OMIM: 138160 ; HGNC: 11006 ; UniProtKB: P11168 ; Genatlas: SLC2A2 ; GenCC: SLC2A2 ...
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#26List of variants in gene SLC2A2 reported as pathogenic by ...
List of variants in gene SLC2A2 reported as pathogenic by OMIM ... The information on this website is not intended for direct diagnostic use or medical decision- ...
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#27Fanconi-Bickel Syndrome via the SLC2A2 Gene - Prevention ...
Fanconi-Bickel syndrome (OMIM 227810), also sometimes known as glycogen storage disease, type XI, is a rare disorder of monosaccharide transport.
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#28SLC2A2 | Gene - VarSome
Fanconi-Bickel syndrome (FBS, OMIM #227810), a congenital disorder of carbohydrate metabolism, is caused by mutations in GLUT2 (SLC2A2), the gene encoding ...
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#29SLC2A2 Gene - Ma'ayan Laboratory - Computational Systems ...
SLC2A2 has 2,797 functional associations with biological entities spanning 8 ... OMIM Gene-Disease Associations, phenotypes associated with SLC2A2 gene from ...
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#30SLC2A2 (solute carrier family 2 member 2) - Atlas of Genetics ...
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to How to contribute ; OMIM · Orphanet ; 125853 ...
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#31Genetic aetiology of glycaemic traits: approaches and insights
SLC2A2 encodes GLUT2, the main glucose transporter in the ... disorders namely SLC2A2 (OMIM # 227810), GCK (OMIM #.
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#32Human Gene SLC2A2 (ENST00000314251.8) from ...
Description: Homo sapiens solute carrier family 2 member 2 (SLC2A2), transcript variant 3, mRNA. · RefSeq Summary (NM_000340): · Gencode Transcript: · Gencode Gene ...
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#33Table 3 Novel predictions of domain-disease and gene ...
Rank Disease OMIM d Module Index Domain Pfam Gene 1 APNEA, OBSTRUCTIVE SLEEP 107650 152 Acetyltransf_1 PF00583 NA... 1 APNEA, OBSTRUCTIVE SLEEP 107650 152 Acetyltransf_1 PF00583 AA... 2 ARTERIES, ANOMALIES OF 108000 182 Sugar_tr PF00083 SL...
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#34SLC2A1 gene: MedlinePlus Genetics
Catalog of Genes and Diseases from OMIM. SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1. Gene and Variant Databases.
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#35SLC2A2 - SLCtables
SLC2A2. Protein name: GLUT2 Aliases: N/D Substrates: glucose, galactose, fructose, ... Disease: (OMIM: 138160 227810) Defects in SLC2A2 are the cause of ...
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#36Fanconi–Bickel syndrome: GLUT2 mutations associated with ...
由 SC Grünert 著作 · 2012 · 被引用 39 次 — Fanconi–Bickel syndrome (FBS, OMIM #227810), a congenital disorder of carbohydrate metabolism, is caused by mutations in GLUT2 (SLC2A2), the gene encoding ...
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#37Genpanel for monogen diabetes mellitus - Oslo ...
neurologic features OMIM ... Diabetes mellitus, type II OMIM ... Histiocytosis-lymphadenopathy plus syndrome OMIM · SLC2A2.
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#38Do second generation sequencing techniques identify ...
OMIM #606176) and syndromic forms (Raghav et al., 2017). PNDM and ... zygous mutations in the SLC2A2 (OMIM#138160) gene, which encodes.
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#39SLC2A2 gene analysis in three Chinese children with Fanconi ...
Fanconi-Bickel syndrome (FBS, OMIM 227810), a rare autosomal recessive disorder of carbohydrate metabolism, is caused by SLC2A2 (GLUT2) mutations.
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#40Slc2a2 in All results < Search < EMBL-EBI
Submitted as: Alternative protein SLC2A2 ... Synthetic construct Homo sapiens clone CCSBHm_00022397 SLC2A2 (SLC2A2) ... Source: OMIM (ID: 138160) ...
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#41SLC2A2 Result Summary | BioGRID
CRISPR Database VEGA OMIM HGNC Alliance of Genome Resources Entrez Gene RefSeq UniprotKB Ensembl HPRD. Download Curated Data for this Protein. 112405.
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#42Gene - SLC2A2 - CMH Variant Warehouse
OMIM :138160: SLC2A2 (Autosomal recessive inheritance) OMIM:227810: Fanconi-Bickel syndrome. OMIM:125853: {Diabetes mellitus, noninsulin-dependent}
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#433例Fanconi-Bickel综合征SLC2A2基因分析 - 中国当代儿科杂志
摘要: Fanconi-Bickel 综合征(FBS, OMIM 227810)是一种常染色体隐性遗传的罕见糖代谢异常疾病,致病基因为SLC2A2。该文报道3 例经SLC2A2 基因分析确诊的FBS 病例。3 例 ...
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#44Blueprint Genetics SLC2A2 single gene test
SLC2A2. Chr3:170745041 c.-582A>C. NM_000340.1. Test Strengths ... zygosity, allele frequencies, in silico predictions, OMIM phenotypes and.
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#45The clinical and genetic characteristics of permanent neonatal ...
Seven different mutations in six genes (PTF1A, GCK, SLC2A2, ... due to solute carrier family 2 member 2 (SLC2A2) mutation (OMIM 227810), ...
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#46Late Diagnosis of Fanconi-Bickel Syndrome: Challenges With ...
Fanconi-Bickel syndrome (FBS; OMIM #227810), also known as glycogen storage ... syndrome is an autosomal recessive disease caused by mutations in SLC2A2, ...
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#47Supp File2.doc
OMIM :600211 6 45623019 G:C:G;*0S,*0* RUNX2 CLEIDOCRANIAL DYSPLASIA ... OMIM:138160 3 172207654 C:T:C;V0I,V0V SLC2A2 DIABETES MELLITUS, ...
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#48Erken Dönemde Tanı Alan Bir Fanconi-Bickel Sendromu ...
Olgusu ve SLC2A2 Geninde Yeni Bir Mutasyon ... Tanı SLC2A2 genine ait yeni bir mutasyon ... Fanconi-Bickel sendromu (OMIM #227810) SLC2A2.
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#49Alpha-1,3-mannosyl-glycoprotein 4-beta-N ... - Wikipedia
Furthermore, it is involved in glucose transport by mediating SLC2A2/GLUT2 glycosylation with controlling cell-surface expression of SLC2A2 in pancreatic ...
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#50Fanconi–Bickel Syndrome: Two Pakistani Patients Presenting ...
Both patients were found to be homozygous for a single nucleotide deletion in the SLC2A2 gene defined as c.339delC.
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#51HP:0003537 - Human Phenotype Ontology
... Molybdenum cofactor deficiency, complementation group C, 615501, C1854990, OMIM ... Genes (9) :GPHN HNF4A MOCOS MOCS1 MOCS2 PNP SLC22A12 SLC2A2 SLC2A9
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#52Fanconi-Bickel Syndrome (FBS) - MalaCards
An important gene associated with Fanconi-Bickel Syndrome is SLC2A2 (Solute ... OMIM® : Fanconi-Bickel syndrome is a rare but well-defined clinical entity, ...
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#53Homo sapiens SLC2A2 - HumanCyc
UCSC Human Genome, NM_000340 ; UniGene, 167584 ; UniProt, P11168 ; Relationship Links ; OMIM Related-To, 227810 ...
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#54TCDB » Human MTPs
Symbol: SLC2A2. TC: 2.A.1.1.29. Locations: 3q26.2-q27. GenBank: J03810. Swiss-Prot: P11168 ... OMIM, 138160. >sp|P11168|GTR2_HUMAN Solute carrier family 2, ...
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#55Whole-Exome Sequencing Uncovers Novel Causative ...
Both variants of c.1043dupT and c.613-1G > C in SLC2A2 gene have been ... pathogenic (P) and likely pathogenic (LP) variants in OMIM genes; ...
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#56Membrane Transporter Diseases - 第 176 頁 - Google 圖書結果
The GLUT2 gene also referred to as the SLC2A2 (OMIM 138160) is localized on human chromosome 3 (3426.1-q26.3) (Fukumoto et al. 1988), and its structure ...
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#57Human Evolutionary Genetics - 第 595 頁 - Google 圖書結果
... OMIM 276900)— disagrees with Watson's phenotype Type 2 diabetes increased risk (SLC2A2; OMIM 125853) Lactase persistence (LCTrs4988235; OMIM 223100) ...
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#58The clinical and genetic characteristics of - ProQuest
... due to solute carrier family 2 member 2 (SLC2A2) mutation (OMIM 227810), ... glucokinase (GCK, OMIM 138079) and insulin (INS, OMIM 176730) mutations.
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#59Glucose solution | Sigma-Aldrich
SLC2A2. solute carrier family 2 (facilitated glucose transporter), member 2. Sinónimos: GLUT2. Especie: ... [supplied by OMIM, Jul 2002. Productos:.
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#60Homozygous haplotype deficiency reveals deleterious ...
frameshift mutation in SLC2A2 encoding glucose transporter 2 (GLUT2) compromises ... in humans (OMIM 227810), which is also caused by mutations in SLC2A2.
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#61Pediatric Gastrointestinal and Liver Disease E-Book
... SLC2A2 (GLUT2) Glucose (OMIM #227810) AR Galactose Fructose Malabsorption of Lipids Congenital lipase/ co-lipase deficiency PNLIP Lipids (OMIM #614338) ...
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#62A Single Center Retrospective Study.XLSX - Figshare
2, Target gene, OMIM, Genetic pattern, Chromosome Location ... 4, GAA, Glycogen storage disease II（OMIM:232300） ... 37, SLC2A2, 1.
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#63University of Dundee Variation in the Glucose Transporter ...
Transporter gene SLC2A2 is associated with glycaemic response to metformin. ... Patients with Fanconi-Bickel Syndrome (OMIM#227810), ...
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#64Novel Fanconi renotubular syndromes provide insights in ...
syndrome (SLC2A2; OMIM no. 227810) (98). Renal proximal tubule dysfunction is presumed to be due to intracellular.
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#65Carnitine insufficiency in children with inborn errors of ...
The disease is caused by defective gene SLC2A2 (OMIM 138160), which encodes a protein GLUT2 (glucose transporter type 2), which provides ...
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#66H-InvDB - Transcript view HIT000191207 - H-Invitational ...
Gene symbol/name, HGNC symbol, SLC2A2. HGNC aliases, NA. HGNC name, solute carrier family 2 (facilitated glucose transporter), member 2.
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#67Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene ...
Fanconi-Bickel syndrome (FBS) is a single-gene disorder (OMIM 227810) caused by defects in the facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene ...
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#68solute carrier family 2 (facilitated glucose transporter), member 2
Symbol, SLC2A2. Aliases, GLUT2. Gene Product. solute carrier family 2 ... OMIM, 138160. Locus, 6514. Summary, Glucose transporter 2 isoform is an integral ...
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#69Anti-Glucose Transporter GLUT2 antibody (ab54460) | Abcam
... Entrez Gene: 20526 Mouse; Entrez Gene: 25351 Rat; Omim: 138160 Human ... GLUT2 antibody; GTR2_HUMAN antibody; GTT2 antibody; SLC2A2 antibody ...
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#70View popup - CJASN
Disorder Inheritance Gene Protein Fanconi renotubular syndrome 1 AD GATM L‑ARGININE:GLYCINE AMIDINOT... Fanconi renotubular syndrome 2 AR SLC34A1 NaPi2A Fanconi renotubular syndrome 3 AD EHHADH PBFE
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#71Variant annotation, analysis and selection tool - Google Patents
C. OMIM non-synonymous variant frequencies compared to BLOSUM62. ... SLC2A2 OMIM: 138160 3 172207654 C:T:C;V0I,V0V DIABETES MELLITUS,. NONINSULIN-DEPENDENT.
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#72Modeling of Environmental Effects in Genome-Wide ...
Association Studies Identifies SLC2A2 and HP as Novel ... gov/omim/). ... loci in the SLC2A2 (Glucose transporter type 2) and the HP.
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#73Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2
... in the SLC2A2 gene, G416S, which further expands the mutation spectrum. To the Editor: Fanconi-Bickel syndrome (FBS, OMIM #227810) is a ...
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#74WES gene package Early-onset enteropathy.xlsx - Erasmus MC
SLC2A2. {Diabetes mellitus, noninsulin-dependent}, 125853. Fanconi-Bickel syndrome, 227810. 138160. 47. 100. 99. 86. SLC2A5. No OMIM phenotype.
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#75gene_lists/omim.use.tsv at master · macarthur-lab ... - GitHub
gene_lists/other_data/omim.use.tsv ... SLC2A2|GLUT2 SLC2A2|SLC2A2 SLC2A2 Fanconi-Bickel syndrome Autosomal recessive 138160 227810 3 NA.
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#76Anti-Glucose Transporter GLUT2 Antibodies
Description: Rabbit polyclonal antibody to SLC2A2. Applications: WB, IHC. Reactivity: Human, Mouse, Rat. Conjugate: Unconjugated. View ...
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#77Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 ...
Fanconi Bickel Syndrome (FBS, OMIM #227810), previously known as glycogen storage ... glucose transporter 2 (GLUT 2) , also known as SLC2A2 gene [2].
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#78PhenomeXcan - bioRxiv
(2) Supplementary Table S2: Standard of OMIM gene-trait associations used to validate PhenomeXcan. (3) Supplementary Table S3: List of ...
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#79SLC2A2
SLC2A2. Human HGNC Gene. description. http://metadb.riken.jp/db/SciNetS_rib99i/ ... HGNC reference(OMIM). http://metadb.riken.jp/db/SciNetS_ria308i/ ...
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#80Генетический анализ гена SLC2A2 | Genotek
Анализ гена SLC2A2 позволяет выявить наличие генетического заболевания, оценить возможность развития болезни и вероятность его ... Заболевание, OMIM номер.
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#81SLC2A2 | Homo sapiens gene | Alliance of Genome Resources
Species: Homo sapiens; Symbol: SLC2A2; Name: solute carrier family 2 member 2; Synonyms. glucose transporter type 2, ... OMIM:227810. Acidosis. OMIM:227810.
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