2. Gene
  3. SLC17A8 - solute carrier family 17 member 8 Gene

SLC17A8 - solute carrier family 17 member 8 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：溶质载体家族 17 成员 8

种属: Homo sapiens

同用名: DFNA25; VGLUT3

基因 ID: 246213 | 基因类型: protein coding

关于 SLC17A8

Cytogenetic location: 12q23.1 Genomic coordinates (GRCh38): 12:100,357,074-100,422,055 (from NCBI)

This gene has 4 transcripts (splice variants), 273 orthologues, 12 paralogues and is associated with 2 phenotypes. Biased expression in small intestine (RPKM 3.2), brain (RPKM 0.5) and 3 other tissues.

功能概要

该基因编码囊泡谷氨酸转运蛋白。编码的蛋白质在释放到突触间隙之前将神经递质谷氨酸转运到突触小泡中。该基因的突变是常染色体显性非综合征 25 型耳聋的原因。交替剪接导致多个转录变体。[RefSeq 提供，2010 年 5 月]

This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

SLC17A8 基因产物(2)

mRNA Protein Name
NM_001145288.2 NP_001138760.1 vesicular glutamate transporter 3 isoform 2
NM_139319.3 NP_647480.1 vesicular glutamate transporter 3 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables L-glutamate uniporter activity IDA
IDA: 通过直接分析推断
12151341 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables sodium:phosphate symporter activity IDA
IDA: 通过直接分析推断
33440152 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in L-glutamate transmembrane transport IDA
IDA: 通过直接分析推断
12151341 GOA
involved in neurotransmitter loading into synaptic vesicle IDA
IDA: 通过直接分析推断
12097496 GOA
involved in neurotransmitter loading into synaptic vesicle IMP
IMP: 通过突变表型推断
12097496 GOA
involved in phosphate ion homeostasis IDA
IDA: 通过直接分析推断
33440152 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SLC17A8 蛋白结构

MFS_1

MFS_1: Major Facilitator Superfamily (86 - 464)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 589 a.a.
蛋白主名 其他名称

vesicular glutamate transporter 3

solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8

关联疾病

疾病名称 别名
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
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Deafness, Autosomal Recessive 7

DFNB7

Dfnb11

Deafness, Autosomal Recessive 11

Autosomal Recessive Nonsyndromic Deafness 7

Autosomal Recessive Deafness 7

Deafness, Autosomal Recessive, 7

Deafness Neurosensory Autosomal Recessive 11

Deafness Neurosensory Autosomal Recessive 7

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 7

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 7

Deafness, Autosomal Recessive, Type 7
Deafness, Autosomal Dominant 64

DFNA64

Autosomal Dominant Nonsyndromic Deafness 64

Autosomal Dominant Deafness 64

Deafness, Autosomal Dominant, 64

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 64

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 64

Deafness, Autosomal Dominant, Type 64
Usher Syndrome, Type Iiia

Usher Syndrome Type 3

Ush3

Usher Syndrome Type 3a

USH3A

Usher Syndrome, Type Iii

Usher Syndrome, Type 3

Usher Syndrome, Type 3a

Usher Syndrome Type Iiia

Usher Syndrome 3a

Usher'S Syndrome Type 3

Usher Syndrome Iii

Usher Syndrome Type Iii
Usher Syndrome, Type Ic

USH1C

Usher Syndrome Type 1c

Usher Syndrome, Type 1c

Usher Syndrome Type I Acadian Variety

Usher Syndrome Type Ic

Usher Syndrome, Type I, Acadian Variety

Usher Syndrome 1c

Acadian Usher Syndrome

Usher'S Syndrome Type 1c
Deafness, Autosomal Recessive 9

Auditory Neuropathy, Autosomal Recessive, 1

Neurosensory Nonsyndromic Recessive Deafness 9

DFNB9

Nsrd9

Autosomal Recessive Nonsyndromic Deafness 9

Autosomal Recessive Deafness 9

Nrsd9

AUNB1

Nonsyndromic Auditory Neuropathy Autosomal Recessive

Nsran

Deafness, Autosomal Recessive, 9

Deafness Neurosensory Autosomal Recessive 9

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9

Non-Syndromic Recessive Hearing Loss 9

Deafness, Autosomal Recessive, Type 9

Auditory Neuropathy, Nonsyndromic Recessive
Cochlear Disease

Cochlear Diseases
Auditory Neuropathy, Autosomal Dominant 1

Autosomal Dominant Auditory Neuropathy 1

AUNA1

Nsdan

Auditory Neuropathy, Autosomal Dominant, 1

Auditory Neuropathy, Nonsyndromic Dominant

Nonsyndromic Dominant Auditory Neuropathy

Nonsyndromic Auditory Neuropathy Autosomal Dominant
Deafness, Autosomal Dominant 9

DFNA9

Autosomal Dominant Nonsyndromic Deafness 9

Autosomal Dominant Deafness 9

Deafness, Autosomal Dominant, 9

Deafness, Autosomal Dominant, Type 9
Deafness, Autosomal Dominant 36

DFNA36

Autosomal Dominant Nonsyndromic Deafness 36

Autosomal Dominant Deafness 36

Deafness, Autosomal Dominant, 36

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 36

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 36

Deafness, Autosomal Dominant, Type 36
Li-Fraumeni Syndrome 1

Lfs1
Deafness, Autosomal Recessive 1a

DFNB1A

Deafness, Digenic, Gjb2/Gjb3

Autosomal Recessive Nonsyndromic Deafness 1a

Deafness, Digenic, Gjb2/Gjb6

Deafness, Digenic Gjb2/Gjb6

Autosomal Recessive Deafness 1a

Deafness, Autosomal Recessive, 1a

Deafness Digenic Gjb2/Gjb3

Deafness Digenic Gjb2/Gjb6

Deafness Neurosensory Autosomal Recessive 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Nsrd1

Deafness, Autosomal Recessive, Type 1a
Deafness, Autosomal Dominant 16

DFNA16

Autosomal Dominant Nonsyndromic Deafness 16

Autosomal Dominant Deafness 16
Deafness, X-Linked 5, With Peripheral Neuropathy

Deafness, X-Linked 5

DFNX5

Aunx1

Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy

X-Linked Deafness 5

X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1

X-Linked Hsan With Deafness

X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy

X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness

X-Linked Hsan With Hearing Loss

X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss

Deafness, X-Linked, 5, With Peripheral Neuropathy

Deafness, X-Linked, Type 5
Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Auditory System Disease

Ear Diseases

Ear And Mastoid Disease
Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib
Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic
Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13041 SLC17A8 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta SLC17A8 VGNC VGNC:77522
Mus musculus SLC17A8 MGD MGI:3039629
Bos taurus SLC17A8 VGNC VGNC:34703
Rattus norvegicus SLC17A8 RGD RGD:628870
Canis familiaris SLC17A8 VGNC VGNC:46253
Felis catus SLC17A8 VGNC VGNC:65224
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