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