Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81031
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 2 member 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC2A10
Synonyms (NCBI Gene) Gene synonyms aliases
ATORS, ATS, GLUT10
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606145 13444 ENSG00000197496
Protein
UniProt ID 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)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Arterial Tortuosity Syndrome arterial tortuosity syndrome rs768848335, rs121908172, rs1979855248, rs864309481, rs121908173, rs763220502, rs370547023, rs767864243, rs753723351, rs80358229, rs572620317, rs761721442, rs587776599, rs756457861, rs1015798796
View all (5 more)
N/A
Thoracic Aortic Aneurysm And Aortic Dissection familial thoracic aortic aneurysm and aortic dissection rs864309481, rs121908172, rs121908173, rs370547023, rs767864243, rs1015798796, rs587776600, rs146579504 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Aortic Aneurysm aortic aneurysm, familial thoracic 6 N/A N/A ClinVar
Bicuspid aortic valve bicuspid aortic valve N/A N/A ClinVar
Ehlers-Danlos Syndrome Ehlers-Danlos syndrome, classic type N/A N/A ClinVar
Thoracic Aortic Aneurysm aortic aneurysm, familial thoracic 2 N/A N/A ClinVar
Associations from Text Mining Disease 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