SLC2A10

Summary

SLC2A10 (solute carrier family 2 member 10, HGNC:13444) is a protein-coding gene on chromosome 20q13.12, encoding Solute carrier family 2, facilitated glucose transporter member 10 (O95528). Facilitative glucose transporter required for the development of the cardiovascular system.

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.

Source: NCBI Gene 81031 — RefSeq curated summary.

At a glance

• Gene–disease (curated): arterial tortuosity syndrome (Definitive, ClinGen)
• GWAS associations: 6
• Clinical variants (ClinVar): 752 total — 28 pathogenic, 15 likely-pathogenic
• Phenotypes (HPO): 95
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_030777

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13444
Approved symbol	SLC2A10
Name	solute carrier family 2 member 10
Location	20q13.12
Locus type	gene with protein product
Status	Approved
Aliases	GLUT10, GLUT-10
Ensembl gene	ENSG00000197496
Ensembl biotype	protein_coding
OMIM	606145
Entrez	81031

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 14 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000359271, ENST00000486000, ENST00000611837, ENST00000862792, ENST00000862793, ENST00000862794, ENST00000862795, ENST00000936502, ENST00000936503, ENST00000936504, ENST00000936505, ENST00000936506, ENST00000936507, ENST00000964822, ENST00000964823

RefSeq mRNA: 1 — MANE Select: NM_030777 NM_030777

CCDS: CCDS13402

Canonical transcript exons

ENST00000359271 — 5 exons

Exon	Start	End
ENSE00000662645	46726864	46726986
ENSE00000845209	46725041	46726324
ENSE00001104836	46733756	46736347
ENSE00001312152	46729353	46729488
ENSE00001404251	46709649	46709740

Expression profiles

Bgee: expression breadth ubiquitous, 235 present calls, max score 96.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.4677 / max 58.1780, expressed in 1272 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
185068	5.1139	1261
185069	0.3538	200

Top tissues by expression

277 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	96.74	gold quality
bronchial epithelial cell	CL:0002328	95.63	gold quality
epithelium of bronchus	UBERON:0002031	93.99	gold quality
bronchus	UBERON:0002185	93.45	gold quality
stromal cell of endometrium	CL:0002255	92.78	gold quality
palpebral conjunctiva	UBERON:0001812	92.66	gold quality
choroid plexus epithelium	UBERON:0003911	92.47	gold quality
decidua	UBERON:0002450	92.03	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.82	gold quality
right lobe of liver	UBERON:0001114	90.74	gold quality
prostate gland	UBERON:0002367	90.39	gold quality
nasal cavity epithelium	UBERON:0005384	90.35	gold quality
periodontal ligament	UBERON:0008266	90.25	gold quality
liver	UBERON:0002107	90.22	gold quality
nasal cavity mucosa	UBERON:0001826	89.85	gold quality
mucosa of paranasal sinus	UBERON:0005030	89.45	gold quality
seminal vesicle	UBERON:0000998	86.97	gold quality
minor salivary gland	UBERON:0001830	86.83	gold quality
right lobe of thyroid gland	UBERON:0001119	86.74	gold quality
ventricular zone	UBERON:0003053	86.67	gold quality
left lobe of thyroid gland	UBERON:0001120	86.25	gold quality
thyroid gland	UBERON:0002046	86.21	gold quality
body of pancreas	UBERON:0001150	85.59	gold quality
saliva-secreting gland	UBERON:0001044	85.52	gold quality
parietal pleura	UBERON:0002400	85.43	gold quality
mucosa of sigmoid colon	UBERON:0004993	84.98	gold quality
rectum	UBERON:0001052	84.85	gold quality
thoracic mammary gland	UBERON:0005200	84.46	gold quality
epithelium of mammary gland	UBERON:0003244	84.33	gold quality
endocervix	UBERON:0000458	84.23	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.26

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

Target	Regulation
DCN	Activation
VCAN	Repression

Upstream regulators (CollecTRI, top): ISL1, NEUROG3

miRNA regulators (miRDB)

118 targeting SLC2A10, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 23)

• expression in adipose tissue (PMID:12890477)
• variation in the coding region of SLC2A10 does not contribute substantially to the pathogenesis of type 2 diabetes (PMID:12941788)
• The SLC2A10 gene encodes a glucose transporter and is located on chromosome 20q13, where evidence has been found for linkage to type 2 diabetes (T2D) in multiple studies. (PMID:15936967)
• Complex regulatory mechanism of SLC2A10 expression through interaction of multiple transcription factors on basal promotor and prescence of distal repressor sequence suggests fine modulation of GLUT10 levels critical for glucose homeostasis. (PMID:16051383)
• GLUT10 deficiency is associated with upregulation of the TGFbeta pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome, in which aortic aneurysms associate with arterial tortuosity (PMID:16550171)
• SLC2A10 genetic variations do not appear to be major determinants for type 2 diabetes susceptibility in the Taiwanese population. (PMID:16586067)
• the c.243C>G mutation in the Middle Eastern families may have a common origin and shared ances (PMID:18565096)
• analysis of a missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome (PMID:18774132)
• Patients of Kurdish origin who display arterial tortuosity associated with skin hyperextensibility, joint hypermobility, and characteristic facial features may carry a novel non-sense mutationin in the SLC2A10 gene. (PMID:18818946)
• Our data demonstrate that genetic polymorphism of the SLC2A10 gene is an independent risk factor for PAD in type 2 diabetes. (PMID:20735855)
• Data show that homozygous and compound heterozygous changes found in PLOD1 and SLC2A10 may confer autosomal recessive effects, and three MYH11, ACTA2 and COL3A1 heterozygous variants were considered as putative pathogenic gene alterations. (PMID:22001912)
• Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P<0.0027) (PMID:25078964)
• 100 ATS patients have been described, and 21 causal mutations have been identified in the SLC2A10 gene. Study expanded the allelic repertoire of SLC2A10 by identifying two novel mutations. (PMID:25373504)
• GLUT10 deficiency leads to oxidative stress and non-canonical alphavbeta3 integrin-mediated TGFbeta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts (PMID:26376865)
• GLUT10 is a dehydroascorbic acid (DAA) transporter and DAA transport is diminished in the endomembranes of fibroblasts from Arterial Tortuosity syndrome patients. (PMID:27153185)
• We document a spectrum of ophthalmic manifestations of arterial tortuosity syndrome with universal findings of myopia, corneal thinning, and a propensity for corneal ectasia leading to keratoconus or keratoglobus. Heterozygous carriers may develop keratectasia after corneal refractive surgery (PMID:28726533)
• We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10 (PMID:29323665)
• Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder? (PMID:31621376)
• The Solute Carrier Family 2 Genes Are Potential Prognostic Biomarkers in Acute Myeloid Leukemia. (PMID:31918632)
• Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects. (PMID:32307537)
• Data show that GLUT10 regulates adipogenesis via ascorbic acid-dependent DNA demethylation to benefit proper white adipose tissue development and protect mice against high-fat diet (HFD)-induced metabolic dysregulation. These findings suggest that SLC2A10 may be an important HFD-associated susceptibility locus for type 2 diabetes mellitus. (PMID:32453789)
• H22954, a long non-coding RNA, inhibits glucose uptake in leukemia cells in a GLUT10-dependent manner. (PMID:35413230)
• Revisiting the roles of glucose transporters in skeletal muscle physiology: is GLUT10 a novel player? (PMID:38219491)

Cross-species orthologs

45 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc2a10	ENSDARG00000090820
mus_musculus	Slc2a10	ENSMUSG00000027661
rattus_norvegicus	Slc2a10	ENSRNOG00000025384
drosophila_melanogaster	Glut3	FBGN0015230
drosophila_melanogaster	sut4	FBGN0028560
drosophila_melanogaster	sut3	FBGN0028561
drosophila_melanogaster	sut2	FBGN0028562
drosophila_melanogaster	sut1	FBGN0028563
drosophila_melanogaster	CG4607	FBGN0029932
drosophila_melanogaster	CG15406	FBGN0031517
drosophila_melanogaster	CG8837	FBGN0031520
drosophila_melanogaster	CG3285	FBGN0031522
drosophila_melanogaster	CG15408	FBGN0031523
drosophila_melanogaster	CG7882	FBGN0033047
drosophila_melanogaster	Tret1-2	FBGN0033644
drosophila_melanogaster	CG8249	FBGN0034045
drosophila_melanogaster	CG6484	FBGN0034247
drosophila_melanogaster	CG14160	FBGN0036066
drosophila_melanogaster	nebu	FBGN0036316
drosophila_melanogaster	CG1208	FBGN0037386
drosophila_melanogaster	CG14606	FBGN0037485
drosophila_melanogaster	CG14605	FBGN0037486
drosophila_melanogaster	CG6901	FBGN0038414
drosophila_melanogaster	CG17929	FBGN0038415
drosophila_melanogaster	CG17930	FBGN0038416
drosophila_melanogaster	Tret1-1	FBGN0050035
drosophila_melanogaster	CG32053	FBGN0052053
drosophila_melanogaster	CG32054	FBGN0052054
drosophila_melanogaster	CG33281	FBGN0053281
drosophila_melanogaster	CG33282	FBGN0053282
drosophila_melanogaster	Srg2	FBGN0262007
drosophila_melanogaster	CG42826	FBGN0262008
caenorhabditis_elegans		WBGENE00008730
caenorhabditis_elegans		WBGENE00010684
caenorhabditis_elegans		WBGENE00010811
caenorhabditis_elegans		WBGENE00012536
caenorhabditis_elegans		WBGENE00013074
caenorhabditis_elegans		WBGENE00016431
caenorhabditis_elegans		WBGENE00017382
caenorhabditis_elegans		WBGENE00019207
caenorhabditis_elegans		WBGENE00019547
caenorhabditis_elegans		WBGENE00019548
caenorhabditis_elegans		WBGENE00019549
caenorhabditis_elegans		WBGENE00019550
caenorhabditis_elegans		WBGENE00043980

Paralogs (13): SLC2A3 (ENSG00000059804), SLC2A9 (ENSG00000109667), SLC2A1 (ENSG00000117394), SLC2A11 (ENSG00000133460), SLC2A8 (ENSG00000136856), SLC2A5 (ENSG00000142583), SLC2A12 (ENSG00000146411), SLC2A13 (ENSG00000151229), SLC2A6 (ENSG00000160326), SLC2A2 (ENSG00000163581), SLC2A14 (ENSG00000173262), SLC2A4 (ENSG00000181856), SLC2A7 (ENSG00000197241)

Protein

Protein identifiers

Solute carrier family 2, facilitated glucose transporter member 10 — O95528 (reviewed: O95528)

Alternative names: Glucose transporter type 10

All UniProt accessions (2): O95528, A0A087WUH5

UniProt curated annotations — full annotation on UniProt →

Function. Facilitative glucose transporter required for the development of the cardiovascular system.

Subcellular location. Endomembrane system. Cytoplasm. Perinuclear region.

Tissue specificity. Widely expressed; highest levels in liver and pancreas.

Disease relevance. Arterial tortuosity syndrome (ATORS) [MIM:208050] An autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.

RefSeq proteins (1): NP_110404* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003663	Sugar/inositol_transpt	Family
IPR005828	MFS_sugar_transport-like	Family
IPR005829	Sugar_transporter_CS	Conserved_site
IPR020846	MFS_dom	Domain
IPR036259	MFS_trans_sf	Homologous_superfamily
IPR050820	MFS_Sugar_Transporter	Family

Pfam: PF00083

Catalyzed reactions (Rhea), 1 shown:

• D-glucose(out) = D-glucose(in) (RHEA:60376)

UniProt features (43 total): topological domain 13, sequence variant 13, transmembrane region 12, binding site 2, chain 1, region of interest 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95528-F1	74.78	0.42

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (2): 242–243; 432

Glycosylation sites (1): 334

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-189200	Cellular hexose transport
R-HSA-5619068	Defective SLC2A10 causes arterial tortuosity syndrome (ATS)

MSigDB gene sets: 398 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GOBP_CARBOHYDRATE_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, GOZGIT_ESR1_TARGETS_DN, GOBP_ARTERY_DEVELOPMENT, GOBP_REGULATION_OF_EXTRACELLULAR_MATRIX_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA_STIMULUS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_REGULATION_OF_GLYCOPROTEIN_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS

GO Biological Process (22): hexose transmembrane transport (GO:0008645), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), galactose transmembrane transport (GO:0015757), positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), negative regulation of connective tissue growth factor production (GO:0032683), skin development (GO:0043588), cell redox homeostasis (GO:0045454), artery development (GO:0060840), dehydroascorbic acid transport (GO:0070837), circulatory system development (GO:0072359), embryonic skeletal joint development (GO:0072498), D-glucose import across plasma membrane (GO:0098708), transport across blood-brain barrier (GO:0150104), negative regulation of proteoglycan biosynthetic process (GO:1902729), positive regulation of proteoglycan biosynthetic process (GO:1902730), regulation of extracellular matrix organization (GO:1903053), D-glucose transmembrane transport (GO:1904659), negative regulation of integrin-mediated signaling pathway (GO:2001045), transmembrane transport (GO:0055085), proton transmembrane transport (GO:1902600)

GO Molecular Function (4): carbohydrate:proton symporter activity (GO:0005351), dehydroascorbic acid transmembrane transporter activity (GO:0033300), D-glucose transmembrane transporter activity (GO:0055056), transmembrane transporter activity (GO:0022857)

GO Cellular Component (6): cytosol (GO:0005829), plasma membrane (GO:0005886), endomembrane system (GO:0012505), membrane (GO:0016020), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
SLC-mediated transmembrane transport	1
SLC transporter disorders	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
gene expression	2
regulation of gene expression	2
hexose transmembrane transport	2
transforming growth factor beta receptor signaling pathway	2
regulation of transforming growth factor beta receptor signaling pathway	2
proteoglycan biosynthetic process	2
cytoplasm	2
monosaccharide transmembrane transport	1
positive regulation of macromolecule biosynthetic process	1
negative regulation of macromolecule biosynthetic process	1
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
positive regulation of cellular response to transforming growth factor beta stimulus	1
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
negative regulation of cytokine production	1
connective tissue growth factor production	1
regulation of connective tissue growth factor production	1
animal organ development	1
cellular homeostasis	1
blood vessel development	1
vitamin transport	1
system development	1
embryonic skeletal system development	1
hexose import across plasma membrane	1
D-glucose transmembrane transport	1
vascular transport	1
negative regulation of glycoprotein biosynthetic process	1
positive regulation of glycoprotein biosynthetic process	1
extracellular matrix organization	1
regulation of cellular component organization	1
integrin-mediated signaling pathway	1
negative regulation of signal transduction	1
regulation of integrin-mediated signaling pathway	1
carbohydrate:monoatomic cation symporter activity	1
solute:proton symporter activity	1
dehydroascorbic acid transport	1
vitamin transmembrane transporter activity	1
hexose transmembrane transporter activity	1
transporter activity	1
transmembrane transport	1

Protein interactions and networks

STRING

2018 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC2A10	FBN1	P35555	660
SLC2A10	EFEMP2	O95967	650
SLC2A10	FBN2	P35556	626
SLC2A10	ACTA2	P03996	614
SLC2A10	MYLK	Q15746	611
SLC2A10	MYH11	P35749	596
SLC2A10	PTGIS	Q16647	578
SLC2A10	COL3A1	P02461	578
SLC2A10	SLC2A3	P11169	547
SLC2A10	TGFBR1	P36897	546
SLC2A10	ELN	P15502	541
SLC2A10	LTBP2	Q14767	537
SLC2A10	TGFBR2	P37173	515
SLC2A10	COL5A2	P05997	514
SLC2A10	COL5A1	P20908	487

IntAct

5 interactions, top by confidence:

A	B	Type	Score
SLC2A10	SRC	psi-mi:“MI:0915”(physical association)	0.400
SYP	TMEM223	psi-mi:“MI:0914”(association)	0.350
UPK2	IFT56	psi-mi:“MI:0914”(association)	0.350
SLC2A10	NRP1	psi-mi:“MI:0914”(association)	0.350

BioGRID (23): SLC2A10 (Affinity Capture-MS), SRC (Affinity Capture-MS), SLC2A10 (Positive Genetic), AMFR (Affinity Capture-MS), C14orf2 (Affinity Capture-MS), ATP5F1 (Affinity Capture-MS), COMT (Affinity Capture-MS), CTSB (Affinity Capture-MS), DHCR24 (Affinity Capture-MS), ENPEP (Affinity Capture-MS), GALNT11 (Affinity Capture-MS), JAG2 (Affinity Capture-MS), LMAN2 (Affinity Capture-MS), NRP1 (Affinity Capture-MS), OMA1 (Affinity Capture-MS)

ESM2 similar proteins: A6NGC4, A6NKX4, A6NM10, D3YZZ2, O35595, O46547, O60391, O77808, O95528, P30518, P43119, P46092, P46095, P48044, P48748, Q14626, Q3SYU3, Q3ZAV1, Q4U2R8, Q4W8A3, Q5RF19, Q5U419, Q64385, Q684M3, Q6UXD7, Q6UXT9, Q6YNI2, Q863Y8, Q86SM5, Q8CFZ5, Q8IXF9, Q8WUG5, Q91X56, Q924U0, Q96S37, Q99MF4, Q9BGL8, Q9BZ11, Q9H1Z9, Q9H228

Diamond homologs: A0A0H2VG78, A9ZSY3, C0SPB2, J9VHZ4, O04036, O04249, O23492, O34718, O52733, O62786, O62787, O65413, O95528, P0AE24, P0AE25, P0AEP1, P0AEP2, P0AGF4, P0AGF5, P11166, P11168, P11169, P12336, P13355, P14142, P14246, P15686, P15729, P17809, P21906, P23586, P27674, P30605, P30606, P32037, P45598, P46333, P46896, P47842, P47843

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

752 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	28
Likely pathogenic	15
Uncertain significance	333
Likely benign	242
Benign	34

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1323610	NM_030777.4(SLC2A10):c.485G>A (p.Trp162Ter)	Pathogenic
1399156	NM_030777.4(SLC2A10):c.1424T>A (p.Leu475Ter)	Pathogenic
1454308	NM_030777.4(SLC2A10):c.473_476del (p.Ala158fs)	Pathogenic
161096	NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)	Pathogenic
161097	NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)	Pathogenic
161098	NM_030777.4(SLC2A10):c.756C>A (p.Cys252Ter)	Pathogenic
161107	NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs)	Pathogenic
1911562	NM_030777.4(SLC2A10):c.10del (p.Ser4fs)	Pathogenic
2426942	NC_000020.10:g.(?45357972)(45358147_?)del	Pathogenic
2761376	NM_030777.4(SLC2A10):c.343_832delinsC (p.Ser115_Ala278delinsPro)	Pathogenic
2983016	NM_030777.4(SLC2A10):c.289del (p.Ser97fs)	Pathogenic
3228060	NM_030777.4(SLC2A10):c.1057_1058del (p.Leu353fs)	Pathogenic
3248277	NC_000020.10:g.(?45353660)(45355645_?)del	Pathogenic
3587316	NM_030777.4(SLC2A10):c.484del (p.Trp162fs)	Pathogenic
3617449	NM_030777.4(SLC2A10):c.483dup (p.Trp162fs)	Pathogenic
3679463	NM_030777.4(SLC2A10):c.22del (p.Leu8fs)	Pathogenic
3722256	NM_030777.4(SLC2A10):c.1129del (p.His377fs)	Pathogenic
3725150	NM_030777.4(SLC2A10):c.1446C>A (p.Tyr482Ter)	Pathogenic
3730294	NM_030777.4(SLC2A10):c.1A>C (p.Met1Leu)	Pathogenic
3773763	NM_030777.4(SLC2A10):c.297_301del (p.Trp100fs)	Pathogenic
3776307	NM_030777.4(SLC2A10):c.801del (p.Ser268fs)	Pathogenic
424159	NM_030777.4(SLC2A10):c.1278_1287delinsCC (p.Phe427fs)	Pathogenic
4585	NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter)	Pathogenic
4586	NM_030777.4(SLC2A10):c.961del (p.Val321fs)	Pathogenic
4587	NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)	Pathogenic
4726466	NM_030777.4(SLC2A10):c.453T>A (p.Tyr151Ter)	Pathogenic
4763906	NM_030777.4(SLC2A10):c.912T>G (p.Cys304Trp)	Pathogenic
583508	NC_000020.11:g.(?46709717)(46733854_?)del	Pathogenic
1027638	NM_030777.4(SLC2A10):c.1393_1394del (p.Ser465fs)	Likely pathogenic
1450973	NM_030777.4(SLC2A10):c.727C>A (p.Gln243Lys)	Likely pathogenic

SpliceAI

1456 predictions. Top by Δscore:

Variant	Effect	Δscore
20:46709737:ATGGG:A	donor_loss	0.9900
20:46709738:TGGG:T	donor_loss	0.9900
20:46709739:GG:G	donor_gain	0.9900
20:46709739:GGGTA:G	donor_loss	0.9900
20:46709740:GG:G	donor_gain	0.9900
20:46709740:GGT:G	donor_loss	0.9900
20:46709741:G:GG	donor_gain	0.9900
20:46709741:GTA:G	donor_loss	0.9900
20:46709742:TAAG:T	donor_loss	0.9900
20:46715434:G:GT	donor_gain	0.9900
20:46726987:G:GG	donor_gain	0.9900
20:46729485:GACG:G	donor_gain	0.9900
20:46729486:ACG:A	donor_loss	0.9900
20:46729488:GGTA:G	donor_loss	0.9900
20:46729489:G:GA	donor_loss	0.9900
20:46709738:TGG:T	donor_gain	0.9800
20:46709739:GGG:G	donor_gain	0.9800
20:46710200:G:GT	donor_gain	0.9800
20:46725039:A:AG	acceptor_gain	0.9800
20:46725040:G:GG	acceptor_gain	0.9800
20:46725040:GGCC:G	acceptor_gain	0.9800
20:46726862:A:AG	acceptor_gain	0.9800
20:46726863:G:GG	acceptor_gain	0.9800
20:46726883:C:CA	acceptor_gain	0.9800
20:46726984:TTGG:T	donor_loss	0.9800
20:46726985:TGGT:T	donor_loss	0.9800
20:46726987:G:A	donor_loss	0.9800
20:46726988:T:TC	donor_loss	0.9800
20:46726989:G:GT	donor_loss	0.9800
20:46729129:T:TA	acceptor_gain	0.9800

AlphaMissense

3415 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:46725472:G:C	G146R	0.986
20:46726303:T:C	F423L	0.985
20:46726305:C:A	F423L	0.985
20:46726305:C:G	F423L	0.985
20:46726962:A:C	S463R	0.985
20:46726964:C:A	S463R	0.985
20:46726964:C:G	S463R	0.985
20:46726932:A:C	S453R	0.983
20:46726934:C:A	S453R	0.983
20:46726934:C:G	S453R	0.983
20:46729431:T:A	V497D	0.983
20:46726881:A:C	S436R	0.982
20:46726883:C:A	S436R	0.982
20:46726883:C:G	S436R	0.982
20:46725473:G:A	G146D	0.981
20:46725104:G:A	G23D	0.980
20:46725092:G:A	G19D	0.979
20:46725277:A:C	S81R	0.979
20:46725279:C:A	S81R	0.979
20:46725279:C:G	S81R	0.979
20:46725773:G:A	G246E	0.977
20:46726297:A:C	S421R	0.977
20:46726299:T:A	S421R	0.977
20:46726299:T:G	S421R	0.977
20:46725091:G:C	G19R	0.976
20:46726869:T:A	W432R	0.976
20:46726869:T:C	W432R	0.976
20:46726940:C:A	N455K	0.974
20:46726940:C:G	N455K	0.974
20:46725361:G:C	G109R	0.973

dbSNP variants (sampled 300 via entrez): RS1000033918 (20:46721893 G>T), RS1000053864 (20:46717215 G>A), RS1000133107 (20:46736610 G>T), RS1000140009 (20:46707814 C>T), RS1000178281 (20:46713379 G>A), RS1000333624 (20:46730703 G>T), RS1000399273 (20:46725866 G>C), RS1000400118 (20:46718900 T>C,G), RS1000529404 (20:46730170 G>A,C,T), RS1000630296 (20:46723341 T>C), RS1000672564 (20:46707642 G>T), RS1000823675 (20:46735750 C>T), RS1000855701 (20:46718502 C>T), RS1000938677 (20:46729639 T>A,G), RS1000993082 (20:46735147 G>A,C)

Disease associations

OMIM: gene MIM:606145 | disease phenotypes: MIM:208050, MIM:607086, MIM:607087, MIM:611788

GenCC curated gene-disease

Disease	Classification	Inheritance
arterial tortuosity syndrome	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
arterial tortuosity syndrome	Definitive	AR

Mondo (5): arterial tortuosity syndrome (MONDO:0008818), familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625), aortic aneurysm, familial thoracic 2 (MONDO:0011770), aortic aneurysm, familial thoracic 6 (MONDO:0012730), Ehlers-Danlos syndrome, classic type (MONDO:0007522)

Orphanet (3): Arterial tortuosity syndrome (Orphanet:3342), Familial thoracic aortic aneurysm and aortic dissection (Orphanet:91387), Classical Ehlers-Danlos syndrome (Orphanet:287)

HPO phenotypes

95 total (30 of 95 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000193	Bifid uvula
HP:0000218	High palate
HP:0000256	Macrocephaly
HP:0000272	Malar flattening
HP:0000276	Long face
HP:0000316	Hypertelorism
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000400	Macrotia
HP:0000444	Convex nasal ridge
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000545	Myopia
HP:0000563	Keratoconus
HP:0000581	Blepharophimosis
HP:0000767	Pectus excavatum
HP:0000768	Pectus carinatum
HP:0000776	Congenital diaphragmatic hernia
HP:0000822	Hypertension
HP:0000963	Thin skin
HP:0000973	Cutis laxa
HP:0000974	Hyperextensible skin
HP:0000977	Soft skin
HP:0000978	Bruising susceptibility
HP:0001027	Soft, doughy skin
HP:0001119	Keratoglobus
HP:0001166	Arachnodactyly

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST005758_5	Dimensional psychopathology (Arousal)	1.000000e-06
GCST005925_3	Baseline cortisol levels in response to low dose short synacthen test in corticosteroid treated asthma	3.000000e-07
GCST005956_29	Waist-to-hip ratio adjusted for BMI	4.000000e-10
GCST005957_10	Waist-to-hip ratio adjusted for BMI (age <50)	5.000000e-06
GCST005958_17	Waist-to-hip ratio adjusted for BMI (age >50)	3.000000e-06
GCST005962_25	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0009099	arousal domain measurement
EFO:0005843	cortisol measurement
EFO:0009175	response to synacthen
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
C564627	Aortic Aneurysm, Familial Thoracic 2 (supp.)
C567085	Aortic Aneurysm, Familial Thoracic 6 (supp.)
C565942	Arterial Tortuosity Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — Class II transporters

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	4
Cyclosporine	decreases expression, increases expression	4
Aflatoxin B1	decreases expression, decreases methylation	3
Air Pollutants	decreases expression, increases abundance, increases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Tobacco Smoke Pollution	decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
bisphenol A	increases expression	1
decabromobiphenyl ether	affects expression	1
trichostatin A	increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression, increases abundance	1
periodate-oxidized adenosine	affects expression	1
benazol P	affects expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
epigallocatechin gallate	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
abrine	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	decreases methylation	1
Vorinostat	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Azathioprine	decreases expression	1
Cadmium	increases abundance, increases expression	1
Caffeine	decreases expression	1
Cannabidiol	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D4EZ	1321N1-SLC2A10-KO-c11	Cancer cell line	Male
CVCL_D4F0	1321N1-SLC2A10-KO-c6	Cancer cell line	Male

Clinical trials (associated diseases)

4 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT03440697	Not specified	ACTIVE_NOT_RECRUITING	Pathogenetic Basis of Aortopathy and Aortic Valve Disease
NCT06783803	Not specified	ACTIVE_NOT_RECRUITING	Application of Linkage Analysis in the Identification of Novel Hereditary Factors in Familial Aneurysms
NCT05429996	Not specified	UNKNOWN	Ultrastructural Collagen Markers in Ehlers Danlos Syndromes
NCT05434728	Not specified	UNKNOWN	Characterization of Bleeding Disorders in EDS