SLC1A2

solute carrier family 1 member 2

4 disorders 1 susceptibility 1 untyped 1 no genetic record 1 causative 11p13 gene with protein product

HGNC:10940 Monarch NCBI Gene 6506 ENSG00000110436 UniProt P43004 OMIM 600300

Aliases: GLT-1, GLT1, EAAT2, HBGT.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Essential Tremor	susceptibility
SLC1A2-Related Developmental and Epileptic Encephalopathy	causative germline	mechanism: SLC1A2 Trimerization-Domain Missense Variant discussion: (unnamed)
Huntington Disease	untyped Pathophysiological Role
Manganism	no genetic record	mechanism: Astrocytic Glutamate Transporter Downregulation

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
developmental and epileptic encephalopathy, 41 MONDO:0014916	AD	Definitive 2020-10-29	SLC1A2-Related Developmental and Epileptic Encephalopathy causative

Mechanism modules · computed from kb/

epilepsy_excitation_inhibition_imbalance via SLC1A2-Related Developmental and Epileptic Encephalopathy
glutamate_excitotoxicity via Manganism

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.