Gene Gene information from NCBI Gene database.
Entrez ID 81031
Gene name Solute carrier family 2 member 10
Gene symbol SLC2A10
Synonyms (NCBI Gene)
ATORSATSGLUT10
Chromosome 20
Chromosome location 20q13.12
Summary This gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. Mutations in this gene have been associated with arterial tortuosity syndrome.[provided by RefSeq,
SNPs SNP information provided by dbSNP.
36
SNP ID Visualize variation Clinical significance Consequence
rs34295241 G>A Conflicting-interpretations-of-pathogenicity, likely-benign, benign Coding sequence variant, non coding transcript variant, missense variant
rs76315093 G>A Conflicting-interpretations-of-pathogenicity, benign Intron variant
rs80358229 G>A,T Pathogenic Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs80358230 C>G Likely-pathogenic, pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs117587497 G>A Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, benign Coding sequence variant, intron variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
500
miRTarBase ID miRNA Experiments Reference
MIRT018588 hsa-miR-335-5p Microarray 18185580
MIRT1358390 hsa-miR-1178 CLIP-seq
MIRT1358391 hsa-miR-1252 CLIP-seq
MIRT1358392 hsa-miR-125a-5p CLIP-seq
MIRT1358393 hsa-miR-125b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0005351 Function Carbohydrate:proton symporter activity NAS 11247674
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
GO:0005886 Component Plasma membrane IDA 11592815
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606145 13444 ENSG00000197496
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95528
Protein name Solute carrier family 2, facilitated glucose transporter member 10 (Glucose transporter type 10) (GLUT-10)
Protein function Facilitative glucose transporter required for the development of the cardiovascular system.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00083 Sugar_tr 11 332 Sugar (and other) transporter Family
PF00083 Sugar_tr 401 512 Sugar (and other) transporter Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed; highest levels in liver and pancreas. {ECO:0000269|PubMed:11592815}.
Sequence
Sequence length 541
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Cellular hexose transport
Defective SLC2A10 causes arterial tortuosity syndrome (ATS)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
825
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arterial tortuosity syndrome Likely pathogenic; Pathogenic rs1980007276, rs2123045274, rs1434246419, rs770701918, rs2123045055, rs2123062030, rs2123045187, rs767864243, rs572620317, rs756457861, rs146579504, rs771028960, rs864309481, rs763220502, rs370547023
View all (19 more)
RCV001328465
RCV001784984
RCV001993032
RCV001970627
RCV001939459
RCV001915414
RCV001882285
RCV000202447
RCV000202463
RCV000202510
RCV000202453
RCV000185549
RCV000202501
RCV000202526
RCV000202558
RCV000202473
RCV000004847
RCV000004848
RCV000004849
RCV000004850
RCV000004851
RCV000004852
RCV002597043
RCV001781572
RCV003027738
RCV003334359
RCV003313763
RCV003313765
RCV003503234
RCV003845647
RCV000559415
RCV000644031
RCV000812297
RCV005032554
Cardiovascular phenotype Pathogenic rs756457861, rs771028960 RCV000248625
RCV000251075
Familial aortopathy Likely pathogenic; Pathogenic rs767864243, rs756457861, rs771702107 RCV004526620
RCV005431491
RCV004701025
Familial thoracic aortic aneurysm and aortic dissection Likely pathogenic; Pathogenic rs2123045187, rs767864243, rs146579504, rs864309481, rs763220502, rs370547023, rs587776600, rs121908172, rs121908173, rs1341502906, rs2515589258, rs1474105130, rs1015798796 RCV003150466
RCV002310718
RCV004019778
RCV001798463
RCV005492791
RCV003380494
RCV002310623
RCV002371760
RCV000616750
RCV003150666
RCV003486417
RCV004517804
RCV000606630
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aortic aneurysm, familial thoracic 2 Conflicting classifications of pathogenicity rs201393026 RCV000581259
Aortic aneurysm, familial thoracic 6 Uncertain significance rs768142427 RCV000845461
Bicuspid aortic valve Uncertain significance rs763521707 RCV000582570
Clear cell carcinoma of kidney Benign; Likely benign rs116344406 RCV005895412
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aortic Dissection Associate 28855619
Arterial Tortuosity Syndrome Associate 16550171, 19781076, 20735855, 26376865, 27153185, 28829359, 29323665, 30800210, 34384376, 39456956
Breast Neoplasms Associate 25151356
Diabetes Mellitus Associate 16550171, 20735855
Diabetes Mellitus Type 2 Associate 16550171, 20735855
Glioblastoma Associate 35962317
Insulin Resistance Associate 31996098
Leukemia Associate 35413230
Leukemia Myeloid Acute Associate 31918632
Loeys Dietz Syndrome Associate 16550171