SLCtables

SLC6A5

Protein name: N/D Aliases: GlyT2 Substrates: glycine Transport type: N/D Tissue and cellular expression: brain (glycinergic neurons, Golgi cells, brain stem, cerebellum), spinal cord Subcellular expression: N/D Disease: pain, spasticity, hyperekplexia Locus: 11p15.2-15.1 Sequence ID: NP_004202.2, NM_004211.3 Gene ID: 9152 Splice variants: N/D

SC6A5_HUMAN (UniProt)

Gene names: SLC6A5, GLYT2, NET1
Protein names and data: SC6A5_HUMAN, Full=Sodium- and chloride-dependent glycine transporter 2;Short=GlyT-2;Short=GlyT2, Full=Solute carrier family 6 member 5; Length: 797 a.a., Mass: 87434 Da,
fasta formatted sequence
Function: Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses
Disease: (OMIM: 604159 614618) Defects in SLC6A5 are the cause of hyperekplexia type 3 (HKPX3) [MIM:614618]. HKPX3 is a neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life- threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life
Cellular location: Membrane; Multi-pass membrane protein
Tissue specificity: Expressed in medulla, and to a lesser extent in spinal cord and cerebellum

Database cross-references

UniProt: Q9Y345
NextBio: 34335
OMIM: 604159 614618
Ensembl: ENST00000525748
GeneCard: GC11P020599
PharmGenUCSF: SLC6A5
Guide to Pharmacology: SLC6A5 (936)
Glycine transporter subfamily (936)
HGNC: HGNC:11051

Genetic variants

See also Ensembl:ENST00000525748

89 - 89 A -> E (no effect on subcellular location; no effect on glycine transport). VAR_044163
102 - 102 G -> S (in dbSNP:rs1443547). VAR_044164 1443547
124 - 124 F -> S (in dbSNP:rs1443548). VAR_044165 1443548
132 - 132 A -> G (in dbSNP:rs34243519). VAR_044166 34243519
162 - 162 A -> G (in dbSNP:rs1443549). VAR_044167 1443549
184 - 184 Q -> R. VAR_011591
306 - 306 L -> V (in HKPX3; compound heterozygote with S-509; impairment of glycine transport when coexpressed with S-509 in vitro). VAR_044168
425 - 425 T -> M (in HKPX3; no effect on subcellular location; impairs glycine transport). VAR_044169
457 - 457 K -> N (in dbSNP:rs3740870). VAR_044170 3740870
463 - 463 D -> N (in dbSNP:rs1805091). VAR_011592 1805091
482 - 482 W -> C (in HKPX3; no effect on subcellular location; impairs glycine transport). VAR_044171
491 - 491 Y -> C (in HKPX3; no effect on subcellular location; impairs glycine transport). VAR_044172
499 - 499 Y -> F (in dbSNP:rs7944684). VAR_044173 7944684
509 - 509 N -> S (in HKPX3; compound heterozygote with V-306; no effect on subcellular location; impairs glycine transport). VAR_044174
510 - 510 S -> R (in HKPX3; results in the formation of large aggregates in the cytoplasm; impairs glycine transport). VAR_044175
632 - 632 V -> E (in a breast cancer sample; somatic mutation). VAR_036160
751 - 751 V -> A. VAR_011593
767 - 767 G -> R (in dbSNP:rs16906628). VAR_044176 16906628