SLC17A6 - solute carrier family 17 member 6 Gene

Also Known as DNPI; VGLUT2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57084

About SLC17A6

Cytogenetic location: 11p14.3 Genomic coordinates (GRCh38): 11:22,338,381-22,379,503 (from NCBI)

This gene has 3 transcripts (splice variants), 302 orthologues and 12 paralogues. Restricted expression toward brain (RPKM 2.7).

Summary

Predicted to enable L-glutamate transmembrane transporter activity and neurotransmitter transmembrane transporter activity. Involved in neurotransmitter loading into synaptic vesicle. Predicted to be located in synaptic vesicle. Predicted to be active in excitatory synapse. Predicted to be integral component of synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC17A6 Products (1)

mRNA Protein Name
NM_020346.3 NP_065079.1 vesicular glutamate transporter 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables L-glutamate uniporter activity IDA
IDA: Inferred from direct assay
11698620 GOA
Biological Process GO Annotation Evidence References Source
involved in L-glutamate import IMP
IMP: Inferred from mutant phenotype
11698620 GOA
involved in phosphate ion homeostasis IDA
IDA: Inferred from direct assay
33440152 GOA
Cellular Component GO Annotation Evidence References Source
located in synaptic vesicle membrane IDA
IDA: Inferred from direct assay
11698620 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

SLC17A6 Protein Structure

MFS_1

MFS_1: Major Facilitator Superfamily (80 - 460)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 582 a.a.
Protein Preferred Names Protein Names

vesicular glutamate transporter 2

  • differentiation-associated BNPI

Related Diseases

Diseases Alias
Arthrogryposis, Distal, Type 2a

  • Freeman-Sheldon Syndrome

  • Craniocarpotarsal Dystrophy

  • Craniocarpotarsal Dysplasia

  • DA2A

  • Whistling Face-Windmill Vane Hand Syndrome

  • Fss

  • Distal Arthrogryposis Type 2a

  • Whistling Face Syndrome

  • Freeman-Burian Syndrome

  • Arthrogryposis Distal Type 2a

  • Distal Arthrogryposis, Type 2a

  • Fbs

  • Arthrogryposis, Distal, 2a
Gnathodiaphyseal Dysplasia

  • GDD

  • Osteogenesis Imperfecta With Unusual Skeletal Lesions

  • Gnathodiaphyseal Sclerosis

  • Osteogenesis Imperfecta, Levin Type

  • Levin Syndrome 2

  • Dysplasia, Gnathodiaphyseal
Deafness, Autosomal Dominant 25

  • DFNA25

  • Autosomal Dominant Nonsyndromic Deafness 25

  • Autosomal Dominant Deafness 25

  • Deafness, Autosomal Dominant, 25

  • Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25

  • Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25

  • Deafness, Autosomal Dominant, Type 25
Arthrogryposis, Distal, Type 1a

  • Distal Arthrogryposis Type 1

  • Digitotalar Dysmorphism

  • DA1A

  • Da1

  • Amcd1

  • Arthrogryposis, Distal, Type 2b4

  • Distal Arthrogryposis Type 1a

  • Arthrogryposis, Distal, Type 1

  • Arthrogryposis Multiplex Congenita Distal Type 1

  • Arthrogryposis Multiplex Congenita, Distal Type 1

  • Arthrogryposis Multiplex Congenita, Distal, Type I

  • Distal Arthrogryposis Type 1b

  • Arthrogryposis, Distal, 1a

  • Amc

  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis, Distal, 2b4

  • DA2B4

  • Arthrogryposis Multiplex Congenita, Distal, Type 1

  • Arthrogryposis
Arthrogryposis, Distal, Type 1b

  • DA1B

  • Distal Arthrogryposis Type 1b

  • Arthrogryposis, Distal, 1b
Congenital Central Hypoventilation Syndrome

  • Cchs

  • Haddad Syndrome

  • Ondine Curse

  • Ondine Syndrome

  • Congenital Central Hypoventilation

  • Congenital Central Alveolar Hypoventilation Syndrome

  • Congenital Failure Of Autonomic Control

  • Ondine'S Curse

  • Primary Alveolar Hypoventilation

  • Ondine-Hirschsprung Disease

  • Central Congenital Hypoventilation Syndrome

  • Congenital Ondine Curse

  • Idiopathic Congenital Central Alveolar Hypoventilation

  • Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome

  • Ondine-Hirschsprung Syndrome
Von Economo'S Disease

  • Encephalitis Lethargica

  • Von Economo Encephalitis

  • Von Economo Disease
Neuropathy, Hereditary, With Liability To Pressure Palsies

  • Tomaculous Neuropathy

  • Hereditary Neuropathy With Liability To Pressure Palsies

  • HNPP

  • Polyneuropathy, Familial Recurrent

  • Neuropathy, Recurrent, With Pressure Palsies

  • Current Pressure-Sensitive Neuropathy

  • Familial Recurrent Polyneuropathy

  • Heterozygous Microdeletion 17p11.2p12

  • Potato-Grubbing Palsy

  • Tulip-Bulb Digger'S Palsy

  • Compression Neuropathy

  • Entrapment Neuropathy

  • Familial Pressure Sensitive Neuropathy

  • Hereditary Motor And Sensory Neuropathy

  • Hereditary Pressure Sensitive Neuropathy

  • Inherited Tendency To Pressure Palsies

  • Hereditary Liability To Pressure Palsies

  • Nerve Compression Syndrome

  • Entrapment Neuropathies

  • Hereditary Motor And Sensory Neuropathies
Mitochondrial Complex I Deficiency, Nuclear Type 1

  • Mitochondrial Complex I Deficiency

  • Nadh:Q(1) Oxidoreductase Deficiency

  • MC1DN1

  • Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex I Deficiency

  • Isolated Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Nadh-Coq Reductase Deficiency

  • Isolated Nadh-Ubiquinone Reductase Deficiency

  • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

  • Nuclear Type Mitochondrial Complex I Deficiency 1

  • Isolated Complex I Deficiency

  • Complex 1 Mitochondrial Respiratory Chain Deficiency

  • Nadh Coenzyme Q Reductase Deficiency

  • Complex I Mitochondrial Respiratory Chain Deficiency

  • Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

  • Nadh:Ubiquinone Oxidoreductase Deficiency

  • Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Schizophrenia

  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

  • Wilson-Turner Syndrome

  • WTS

  • Mrxs6

  • X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome

  • Mrxswt

  • Wilson-Turner X-Linked Mental Retardation Syndrome

  • Mental Retardation, X-Linked, Syndromic 6

  • Mental Retardation, X-Linked, With Gynecomastia And Obesity

  • Intellectual Disability, X-Linked, Syndromic 6

  • Intellectual Disability, X-Linked, With Gynecomastia And Obesity

  • Wilson Turner Intellectual Disability Syndrome

  • X-Linked Intellectual Disability - Gynecomastia - Obesity
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 (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13039 SLC17A6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus SLC17A6 VGNC VGNC:34701
Felis catus SLC17A6 VGNC VGNC:65222
Macaca mulatta SLC17A6 VGNC VGNC:77494
Rattus norvegicus SLC17A6 RGD RGD:620531
Canis familiaris SLC17A6 VGNC VGNC:46251
Mus musculus SLC17A6 MGD MGI:2156052
Others SLC17A6 NCBI