1. Gene
  2. SLC17A6 - solute carrier family 17 member 6 Gene

SLC17A6 - solute carrier family 17 member 6 Gene

Homo sapiens

Also known as DNPI; VGLUT2

Gene ID: 57084 | Gene type: protein coding

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

SLC17A6 Protein Structure

MFS_1

MFS_1: Major Facilitator Superfamily (80 - 460)

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  • 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

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