SLC6A5 - solute carrier family 6 member 5 Gene

Also Known as NET1; GLYT2; HKPX3; GLYT-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9152

About SLC6A5

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:20,599,608-20,659,285 (from NCBI)

This gene has 3 transcripts (splice variants), 209 orthologues, 19 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

SLC6A5 Products (4)

mRNA	Protein	Name
XM_017018544.3	XP_016874033.1	sodium- and chloride-dependent glycine transporter 2 isoform X1
NM_004211.5	NP_004202.4	sodium- and chloride-dependent glycine transporter 2 isoform 1
NM_001318369.2	NP_001305298.1	sodium- and chloride-dependent glycine transporter 2 isoform 2 precursor
XR_007062528.1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables glycine:sodium symporter activity	IDA IDA: Inferred from direct assay	9845349	GOA
enables glycine:sodium symporter activity	IMP IMP: Inferred from mutant phenotype	10606742	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glycine import across plasma membrane	IDA IDA: Inferred from direct assay	16751771	GOA
involved in synaptic transmission, glycinergic	IMP IMP: Inferred from mutant phenotype	16751771	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	16751771	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	31370103	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC6A5 Protein Structure

SNF

0
200
400
600
797 a.a.

Protein Preferred Names	Protein Names
sodium- and chloride-dependent glycine transporter 2	norepinephrine transporter 1 solute carrier family 6 (neurotransmitter transporter, glycine), member 5

SLC6A5 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83191	GlyT2 Antibody (YA2936)	WB	Human, Rat
HY-P83191A	GlyT2 Antibody (YA2936)(PBS only)	WB	Human, Rat

Related Diseases

Diseases	Alias
Hyperekplexia 1	HKPX1 Exaggerated Startle Reaction Sthe Stiff-Baby Syndrome Kok Disease Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Startle Disease Hereditary Hyperexplexia 1 Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive Hyperekplexia Hereditary Hyperexplexia Stiff-Person Syndrome
Cerebral Creatine Deficiency Syndrome	Deficiency, Cerebral Creatine, Syndrome
Hyperekplexia 3	HKPX3 Hyperekplexia, Type 3
Cerebral Creatine Deficiency Syndrome 1	Creatine Transporter Deficiency Creatine Transporter Defect Slc6a8 Deficiency X-Linked Creatine Deficiency Syndrome CCDS1 Creatine Deficiency Syndrome, X-Linked X-Linked Creatine Deficiency Creatine Deficiency, X-Linked X-Linked Creatine Transporter Deficiency Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia Mental Retardation, X-Linked, With Creatine Transport Deficiency Mental Retardation , X-Linked With Seizures, Short Stature And Midface Hypoplasia Mental Retardation , X-Linked, With Creatine Transport Deficiency Slc6a8-Related Creatine Transporter Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 1
Brown-Vialetto-Van Laere Syndrome 1	BVVLS1 Pontobulbar Palsy With Deafness Bulbar Palsy, Progressive, With Sensorineural Deafness Rfvt2-Related Riboflavin Transporter Deficiency Rtd2 Riboflavin Transporter Deficiency 2 Bulbar Palsy Progressive With Sensorineural Deafness Riboflavin Transporter Deficiency Type 2 Brown-Vialetto-Van Laere Syndrome, Type 1 Brown-Vialetto-Van Laere Syndrome
Brody Disease	Brody Myopathy BROD Sarcoplasmic Reticulum -Ca2+Atpase Deficiency Myopathy, Brody
Periodic Limb Movement Disorder	Nocturnal Myoclonus Syndrome Nocturnal Myoclonus
Brittle Cornea Syndrome 2	BCS2 Cornea, Brittle, Syndrome Type 2 Ehlers-Danlos Syndrome 6b Ehlers-Danlos Syndrome Type 6
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Gnathodiaphyseal Dysplasia	GDD Osteogenesis Imperfecta With Unusual Skeletal Lesions Gnathodiaphyseal Sclerosis Osteogenesis Imperfecta, Levin Type Levin Syndrome 2 Dysplasia, Gnathodiaphyseal
Hartnup Disorder	Hartnup Disease HND Neutral 1 Amino Acid Transport Defect Neutral Amino Acid Transport Defect Deficiency Of Tryptophan Oxygenase Hartnup'S Disease Aminoaciduria, Hartnup Type Disorder Of Neutral Amino Acid Transport
Hyperekplexia	Hereditary Hyperekplexia Kok Disease Congenital Stiff Man Syndrome Familial Startle Disease Sthe Stiff-Baby Syndrome Hereditary Hyperexplexia Startle Disease Exaggerated Startle Reaction Hyperexplexia Hereditary Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Hyperekplexia Startle Syndrome Stiff Baby Syndrome Hyperekplexia, Hereditary Stiff-Person Syndrome
Iminoglycinuria	Iminoglycinuria, Digenic IG
Hyperekplexia 2	HKPX2 Autosomal Recessive Hyperekplexia 2 Hyperekplexia, Type 2
Glycine Encephalopathy	Non-Ketotic Hyperglycinemia Nonketotic Hyperglycinemia NKH GCE Hyperglycinemia, Nonketotic Hyperglycinemia Nonketotic Infantile Glycine Encephalopathy Encephalopathy, Glycine Glycine Synthase Deficiency Nka Neonatal Glycine Encephalopathy Classic Glycine Encephalopathy Neonatal Nkh Neonatal Non-Ketotic Hyperglycinemia Infantile Nkh Infantile Non-Ketotic Hyperglycinemia Non-Ketotic Hyperglycinaemia Glycine Cleavage Deficiency Nonketotic Hyperglycinaemia
Hypertonia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13306	SLC6A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13314	SLC6A5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13315	Slc6a5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13316	Slc6a5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20194	Slc6a2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC6A5	RGD	RGD:621824
Macaca mulatta	SLC6A5	VGNC	VGNC:77621
Canis familiaris	SLC6A5	VGNC	VGNC:46466
Bos taurus	SLC6A5	VGNC	VGNC:56281
Felis catus	SLC6A5	VGNC	VGNC:65417
Mus musculus	SLC6A5	MGD	MGI:105090
Others	SLC6A5	NCBI