SLC52A2 - solute carrier family 52 member 2 Gene

中文名称：溶质载体家族 52 成员 2

种属: Homo sapiens

同用名: PAR1; RFT3; RFVT2; hRFT3; BVVLS2; GPCR41; GPR172A; HuPAR-1; D15Ertd747e

基因 ID: 79581 | 基因类型: protein coding

关于 SLC52A2

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:144,358,552-144,361,272 (from NCBI)

This gene has 27 transcripts (splice variants), 1 gene allele, 162 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 10.9), stomach (RPKM 8.5) and 25 other tissues.

功能概要

该基因编码属于核黄素转运蛋白家族的膜蛋白。在人体中，核黄素必须通过肠道吸收获得，因为它不能由人体合成。水溶性维生素核黄素被加工成辅酶黄素单核苷酸 (FMN) 和黄素腺嘌呤二核苷酸 (FAD) ，然后在许多细胞代谢反应中充当中介。核黄素转运蛋白基因家族的旁系同源成员位于 17 号和 20 号染色体上。与该家族的其他成员不同，该基因在脑组织中的表达高于小肠。该基因的可变剪接导致编码相同蛋白质的多个转录变体。该基因的突变与 Brown-Vialetto-Van Laere 综合征 2 有关，这是一种常染色体隐性遗传进行性神经系统疾病，其特征是耳聋、延髓功能障碍以及轴向和肢体肌张力减退。[RefSeq 提供，2012 年 7 月]

This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike Other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012]

SLC52A2 基因产物(8)

mRNA	Protein	Name
NM_001253815.2	NP_001240744.1	solute carrier family 52, riboflavin transporter, member 2 isoform 1
NM_001253816.2	NP_001240745.1	solute carrier family 52, riboflavin transporter, member 2 isoform 1
NM_001363118.2	NP_001350047.1	solute carrier family 52, riboflavin transporter, member 2 isoform 1
NM_001363120.2	NP_001350049.1	solute carrier family 52, riboflavin transporter, member 2 isoform 1
NM_001363121.2	NP_001350050.1	solute carrier family 52, riboflavin transporter, member 2 isoform 1
NM_001363122.2	NP_001350051.1	solute carrier family 52, riboflavin transporter, member 2 isoform 2
NM_001410949.1	NP_001397878.1	solute carrier family 52, riboflavin transporter, member 2 isoform 3
NM_024531.5	NP_078807.1	solute carrier family 52, riboflavin transporter, member 2 isoform 1

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables 4-hydroxybutyrate receptor activity	IDA IDA: 通过直接分析推断	17197387	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA
enables riboflavin transmembrane transporter activity	IDA IDA: 通过直接分析推断	20463145	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in riboflavin transport	IDA IDA: 通过直接分析推断	20463145	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in plasma membrane	IDA IDA: 通过直接分析推断	17197387	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

SLC52A2 蛋白结构

DUF1011

0
100
200
300
400
445 a.a.

蛋白主名

其他名称

solute carrier family 52, riboflavin transporter, member 2

G protein-coupled receptor 172A

SLC52A2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SLC52A2	Q9HAB3	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
种属内	SLC52A2	Q9HAB3	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
种属内	SLC52A2	Q9HAB3	CDC23	Homo sapiens	Q9UJX2	Validated Y2H	25416956
种属内	SLC52A2	Q9HAB3	CDC23	Homo sapiens	Q9UJX2	Y2H Prey Pooling	25416956

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Brown-Vialetto-Van Laere Syndrome 2

BVVLS2	Rfvt3-Related Riboflavin Transporter Deficiency
Rtd3	Riboflavin Transporter Deficiency 3
Brown-Vialetto-Van Laere Syndrome, Type 2

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

Riboflavin Transporter Deficiency

Brown-Vialetto-Van Laere Syndrome	Pontobulbar Palsy And Neurosensory Deafness
Progressive Bulbar Palsy	Bvvls
Pontobulbar Palsy With Deafness	Progressive Bulbar Palsy With Sensorineural Deafness
Progressive Bulbar Atrophy

Brown-Vialetto-Van Laere Syndrome

Fazio-Londe Disease

Fazio-Londe Syndrome	Riboflavin Transporter Deficiency Neuronopathy
Brown-Vialetto-Van Laere Syndrome	Progressive Bulbar Palsy Of Childhood
Bulbar Palsy, Progressive, Of Childhood	Bvvls
Pontobulbar Palsy With Deafness	Progressive Bulbar Palsy With Sensorineural Deafness
Riboflavin Transporter Deficiency	FALOND
Bulbar Palsy Progressive Of Childhood	Bulbar Palsy Of Childhood, Progressive

Progressive Bulbar Palsy

Bulbar Palsy, Progressive	Progressive Bulbar Atrophy
Bulbar Palsy	Pbp - [Progressive Bulbar Palsy]
Progressive Bulbar Paralysis	Bulbar Paralysis
Chronic Bulbar Palsy	Chronic Bulbar Paralysis
Supranuclear Bulbar Paralysis

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

Waardenburg Syndrome, Type 4b

Waardenburg Syndrome Type 4b	WS4B
Waardenburg Syndrome Type Ivb	Waardenburg Syndrome With Hirschsprung Disease Type 4b
Waardenburg Syndrome, Type 4b, With Hirschsprung Disease	Waardenburg Syndrome, Type Ivb
Waardenburg Syndrome 4b	Hirschsprung Disease With Pigmentary Anomaly
Shah-Waardenburg Syndrome	Waardenburg-Shah Syndrome
Waardenburg Syndrome, Type 4a

Chronic Apical Periodontitis

Apical Periodontitis Nos	Apex Periodontitis
Periapical Infection Nos

Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Mitochondrial Complex Iii Deficiency Nuclear Type 2	MC3DN2
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	MC2DN3
Mitochondrial Complex 2 Deficiency, Nuclear Type 3	Mitochondrial Complex Iii Deficiency, Nuclear 2

Deafness, Dystonia, And Cerebral Hypomyelination

Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	DDCH
Cadds	Severe Motor And Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome
Contiguous Abcd1 Dxs1357e Deletion Syndrome	Zellweger-Like Contiguous Gene Deletion Syndrome
Contiguous Abcd1/Dxs1375e Deletion Syndrome	Deafness, Dystonia, Cerebral Hypomyelination
Contiguous Abcd1-Dxs1375e Deletion Syndrome

Multiple Acyl-Coa Dehydrogenase Deficiency

MADD	Ethylmalonic-Adipicaciduria
Ema	Glutaric Acidemia Iia
Glutaric Acidemia Iib	Ga Ii
Glutaric Acidemia Iic	Glutaric Acidemia Type 2
Glutaric Acidemia Ii	Glutaric Aciduria Ii
Electron Transfer Flavoprotein Deficiency	Glutaric Aciduria Type 2
Mad Deficiency	Glutaric Acidemia Type Ii
Glutaric Aciduria 2	Etfa Deficiency
Etfb Deficiency	Etfdh Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Ga2
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency	Electron Transfer Flavoprotein Dehydrogenase Deficiency
Ga 2	Glutaric Acidemia 2
Glutaric Acidemia, Type 2	Glutaric Aciduria, Type 2
Mad	Multiple Fad Dehydrogenase Deficiency
Ethylmalonic Adipic Aciduria	Glutaricaciduria Ii
Glutaric Aciduria 2a	GA2A
Gaiia	Glutaricaciduria Iia
Glutaric Aciduria 2b	GA2B
Gaiib	Glutaricaciduria Iib
Glutaric Aciduria 2c	GA2C
Gaiic	Glutaricaciduria Iic
Glutaricaciduria, Type Iia	Glutaric Acidemia Type 2a
Glutaric Acidemia Type 2c	Glutaric Aciduria Iia
Glutaric Aciduria Iib	Glutaric Aciduria Iic

Riboflavin Deficiency

Ariboflavinosis	Maternal Riboflavin Deficiency
RBFVD	Vitamin B2 Deficiency
Hyporiboflavinosis

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

Dry Beriberi

Hypotonia

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13278	SLC52A2 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	SLC52A2	VGNC	VGNC:77794
Rattus norvegicus	SLC52A2	RGD	RGD:1560410
Mus musculus	SLC52A2	MGD	MGI:1289288

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