SLC29A3 Chromosome 10

Solute carrier family 29 member 3

59 variants 1 Drug Response 58 Health Risk

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What This Gene Does

This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]

Gene Info

Gene Group

Solute carrier family 29

Locus Type

gene with protein product

Location

10q22.1

Ensembl

ENSG00000198246

Associated Conditions (10)

H syndrome

Gemcitabine response

Acanthosis nigricans

SLC29A3-related disorder

Inborn genetic diseases

Thyroid cancer

nonmedullary

Clear cell carcinoma of kidney

Pigmentary skin disorders

Key Variants

RS780668

Benign; drug response

H syndrome, Gemcitabine response, Acanthosis nigricans

Drug Response

RS113542201

Conflicting classifications of pathogenicity

H syndrome, SLC29A3-related disorder, H syndrome

Health Risk

RS138640615

Conflicting classifications of pathogenicity

H syndrome, H syndrome

Health Risk

RS142991278

Conflicting classifications of pathogenicity

H syndrome, Inborn genetic diseases, H syndrome

Health Risk

RS146764905

Conflicting classifications of pathogenicity

Inborn genetic diseases, SLC29A3-related disorder, H syndrome

Health Risk

RS147552838

Conflicting classifications of pathogenicity

H syndrome, H syndrome

Health Risk

RS147814367

Conflicting classifications of pathogenicity

H syndrome, SLC29A3-related disorder, H syndrome

Health Risk

RS1847078623

Conflicting classifications of pathogenicity

H syndrome, H syndrome

Health Risk

RS1847094674

Conflicting classifications of pathogenicity

H syndrome, H syndrome

Health Risk

RS373404056

Conflicting classifications of pathogenicity

H syndrome, SLC29A3-related disorder, H syndrome

Health Risk

RS374417695

Conflicting classifications of pathogenicity

H syndrome, SLC29A3-related disorder, H syndrome

Health Risk

RS566110994

Conflicting classifications of pathogenicity

H syndrome, H syndrome

Health Risk

All Variants (59)

RSID	Category	Clinical Significance	Conditions
RS796052139	Health Risk	Pathogenic	H syndrome, H syndrome
RS869025176	Health Risk	Pathogenic	H syndrome, H syndrome
RS869025177	Health Risk	Pathogenic	H syndrome, H syndrome
RS1430557607	Health Risk	Pathogenic/Likely pathogenic	H syndrome, H syndrome
RS267607056	Health Risk	Pathogenic/Likely pathogenic	H syndrome, H syndrome
RS387907067	Health Risk	Pathogenic/Likely pathogenic	H syndrome, SLC29A3-related disorder, H syndrome
RS587780462	Health Risk	Pathogenic/Likely pathogenic	H syndrome, H syndrome
RS758201217	Health Risk	Pathogenic/Likely pathogenic	H syndrome, H syndrome
RS776960135	Health Risk	Pathogenic/Likely pathogenic	H syndrome, H syndrome

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