SLC29A3 (Gene)

Synonyms:ENT3, ENTREZ:55315, HCLAP, HGNC:23096, HJCD, MIM:612373, NM_001174098, NM_001363518, NM_018344, NP_001167569, NP_001350447, NP_060814, NR_033413, NR_033414, PHID, SLC29A3, XM_017016377, XM_017016378, XP_016871866, XP_016871867, solute carrier family 29 member 3
Omim:OMIM:612373
Id:ENSG00000198246
Hgnc:HGNC:23096
Entrez:55315
Description:solute carrier family 29 member 3
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]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View SLC29A3's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with SLC29A3.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using SLC29A3.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for SLC29A3.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with SLC29A3.

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