SLC25A22基因详情-基因数据库-基因云馆

SLC25A22 (solute carrier family 25 member 22)

symbol:: SLC25A22
locus group:: protein-coding gene
location:: 11p15.5
gene_family:: Solute carriers
alias symbol:: GC1|FLJ13044|NET44|EIEE3|GC-1
alias name:: Early infantile epileptic enceph...
entrez id:: 79751
ensembl gene id:: ENSG00000177542
ucsc gene id:: uc001lrj.4
refseq accession:: NM_001191060
hgnc_id:: HGNC:19954
approved reserved:: 2002-12-10

11p15.5

SLC25A22（溶质载体家族25成员22）属于线粒体载体蛋白家族SLC25，该家族主要负责线粒体内外代谢物的转运。SLC25A22也被称为线粒体谷氨酸载体1（GC1），其主要功能是介导线粒体内外的谷氨酸转运，尤其在神经系统中对谷氨酸能神经传递至关重要。该基因在脑组织中高表达，特别是在海马、大脑皮层和小脑中，表明其与神经功能密切相关。SLC25A22的突变会导致线粒体谷氨酸转运障碍，进而影响能量代谢和神经递质平衡。已发现该基因的突变与早期婴儿癫痫性脑病（EIEE3）相关，患者表现为严重癫痫发作、发育迟缓和脑电图异常。SLC25A22过表达可能增加谷氨酸的线粒体摄取，影响神经元的能量供应和氧化还原状态，而表达降低则可能导致谷氨酸在线粒体外积累，引发兴奋性毒性。SLC25A22所在的SLC25基因家族共有53个成员，均编码线粒体内膜转运蛋白，负责转运代谢物如氨基酸、核苷酸和辅因子等。该家族蛋白通常具有三重复结构域和保守的线粒体靶向序列，通过构象变化完成底物转运。SLC25A22的功能障碍不仅影响谷氨酸代谢，还可能干扰三羧酸循环和氧化磷酸化，导致ATP生成减少。此外，该基因与癫痫、神经退行性疾病和代谢紊乱有关，是神经代谢研究的重要靶点。

中文English

该基因编码线粒体谷氨酸载体。在这个基因的突变与早期婴儿癫痫性脑病有关。多个可变剪接变体，编码相同的蛋白质，也已确定。[通过的RefSeq，2010年7月提供]

OMIM数据库中对SLC25A22基因的介绍 Wikipedia数据库中对SLC25A22基因的介绍

SLC25A22基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MADKQISLPA KLINGGIAGL IGVTCVFPID LAKTRLQNQQ
41NGQRVYTSMS DCLIKTVRSE GYFGMYRGAA VNLTLVTPEK
81
AIKLAANDF FRHQLSKDGQ KLTLLKEMLA GCGAGTCQVI
121VTTPMEMLKI QLQDAGRIAA QRKILAAQGQ LSAQGGAQPS
161V
EAPAAPRP TATQLTRDLL RSRGIAGLYK GLGATLLRDV
201PFSVVYFPLF ANLNQLGRPA SEEKSPFYVS FLAGCVAGSA
241AA
VAVNPCD VVKTRLQSLQ RGVNEDTYSG ILDCARKILR
281HEGPSAFLKG AYCRALVIAP LFGIAQVVYF LGIAESLLGL
321LQD
PQA

结构预测来自 AlphaFold DB（UniProt: Q9H936），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

SLC25A22基因的碱基突变：仅显示部分snp

rs4963152 rs4963153 rs4963154 rs7124179 rs17156064 rs74573437 rs111723529 rs112476979 rs114476401 rs116673603 rs118051043 rs139020729 rs139397585 rs139577104 rs141931491 rs142363186 rs143320809

SLC25A22基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

CTGAGGATCTGTGGGTGTG

59

GCTGATCTGCTTATCAGCC

58

CTGTGAACTTGACCCTCGT

59

CTTCTGCCCGTCCTTAGAG

59

TTCTAGGACAGAAGTGGCG

59

CAGGCTGATCTGCTTATCAG

58

TTTCTACGTGTCCTTCCTGG

59

CGTCTTCACCACATCACAG

58

GATAAGCAGATCAGCCTGC

58

ACGAGGGTCAAGTTCACAG

59

GACTGAAAGGAAGCCAGGT

59

CAGGCTGATCTGCTTATCAG

58

CATCCAGAGACAGAAGTGG

57

TTAACTCGATTGCACCCAG

57

CCATCCAGAGACAGAAGTGG

59

TAACTCGATTGCACCCAGG

59

CTGATAAGCAGATCAGCCTG

58

GTCAAGTTCACAGCAGCTC

59

CTTCTAGGACAGAAGTGGC

57

GGCTGATCTGCTTATCAGC

58

尚未收录相关数据

SLC25A22基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

质膜
细胞质
细胞外
高尔基体
囊泡
细胞骨架
内质网
细胞核
内体
溶酶体
线粒体

SLC25A22基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0006810

A0A0A6YYN8 (UniProtKB)

IEA

GO:0016021

A0A0A6YYN8 (UniProtKB)

IEA

GO:0016021

A0A0D9SEI9 (UniProtKB)

IEA

GO:0055085

A0A0D9SEI9 (UniProtKB)

IEA

GO:0016021

A0A0D9SFA8 (UniProtKB)

IEA

GO:0055085

A0A0D9SFA8 (UniProtKB)

IEA

GO:0016021

A0A0D9SFE1 (UniProtKB)

IEA

GO:0055085

A0A0D9SFE1 (UniProtKB)

IEA

GO:0016021

A0A0D9SG84 (UniProtKB)

IEA

GO:0055085

A0A0D9SG84 (UniProtKB)

IEA

GO:0016021

E9PI74 (UniProtKB)

IEA

GO:0055085

E9PI74 (UniProtKB)

IEA

GO:0005654

E9PJH7 (UniProtKB)

IDA

GO:0005739

E9PJH7 (UniProtKB)

IDA

GO:0016021

E9PJH7 (UniProtKB)

IEA

GO:0055085

E9PJH7 (UniProtKB)

IEA

GO:0006810

E9PJY0 (UniProtKB)

IEA

GO:0016021

E9PJY0 (UniProtKB)

IEA

GO:0016021

E9PQ36 (UniProtKB)

IEA

GO:0055085

E9PQ36 (UniProtKB)

IEA

GO:0005654

E9PS95 (UniProtKB)

IDA

GO:0005739

E9PS95 (UniProtKB)

IDA

GO:0016021

E9PS95 (UniProtKB)

IEA

GO:0055085

E9PS95 (UniProtKB)

IEA

GO:0016021

K4DIA2 (UniProtKB)

IEA

GO:0055085

K4DIA2 (UniProtKB)

IEA

GO:0016021

K4DIA8 (UniProtKB)

IEA

GO:0055085

K4DIA8 (UniProtKB)

IEA

GO:0016021

K4DIB0 (UniProtKB)

IEA

GO:0055085

K4DIB0 (UniProtKB)

IEA

GO:0016021

K4DIB3 (UniProtKB)

IEA

GO:0055085

K4DIB3 (UniProtKB)

IEA

GO:0006810

K4DIB4 (UniProtKB)

IEA

GO:0016021

K4DIB4 (UniProtKB)

IEA

GO:0016021

K4DIB6 (UniProtKB)

IEA

GO:0055085

K4DIB6 (UniProtKB)

IEA

GO:0016021

K4DIB8 (UniProtKB)

IEA

GO:0055085

K4DIB8 (UniProtKB)

IEA

GO:0003735

Q9H936 (UniProtKB)

IBA

GO:0005313

Q9H936 (UniProtKB)

IDA

GO:0005654

Q9H936 (UniProtKB)

IDA

GO:0005739

Q9H936 (UniProtKB)

IDA

GO:0005743

Q9H936 (UniProtKB)

IDA

GO:0006412

Q9H936 (UniProtKB)

IBA

GO:0015293

Q9H936 (UniProtKB)

IEA

GO:0015813

Q9H936 (UniProtKB)

IDA

GO:0016021

Q9H936 (UniProtKB)

IEA

GO:0089711

Q9H936 (UniProtKB)

IEA

可能调控 SLC25A22基因的相关microRNA：

hsa-miR-1 hsa-miR-16 hsa-let-7b hsa-let-7b* hsa-miR-30a hsa-miR-30a* hsa-miR-30b hsa-miR-30b* hsa-miR-30c hsa-miR-30d

String

BioGrid

IntAct

mentha

MINT

加载中…

关联基因	作用方式	资源库来源/分值

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
Early myoclonic encephalopathy	0.48	1	4	CLINVAR_CTD_human_ORPHANET_UNIPROT
Early infantile epileptic encephalopathy with suppression bursts	0.12	0	0	ORPHANET
Migrating partial seizures in infancy	0.000271442	1	0	BeFree
Myoclonic Encephalopathy	0.000271442	1	0	BeFree
Epilepsies, Myoclonic	0.000271442	1	0	BeFree
Epilepsy	0.000271442	1	0	BeFree
Epileptic encephalopathy	0.000271442	1	0	BeFree

Prevalence of Molecular Subtypes of Gastric Cancer in Taiwan and the Impact of High SLC25A22 Expression on Survival: A Single-Center Experience.

Lee YT, Lin SH, Yeh KT, Yu KS, Hsu PY, Chan MWY Mol Carcinog IF: 3.5 2026-06-00

The Unique Mitochondrial Architecture of the Buffalo Brain: A Comparative Transcriptomic Analysis of Transport, Signaling, and Detoxification.

Sadeesh EM, Lahamge MS, Ampadi AN, Mohiddin R Neurochem Res IF: 4.5 2026-07-17

Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.

Gürsoy Semra, Erçal Derya J Child Neurol IF: 1.6 2016-10-31

Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22.

Cohen Rony, Basel-Vanagaite Lina, Goldberg-Stern Hadassah, Halevy Ayelet, Shuper Avinoam, Feingold-Zadok Michal, Behar Doron M, Straussberg Rachel Eur J Paediatr Neurol IF: 2.9 2015-07-10

SLC25A22 is a novel gene for migrating partial seizures in infancy.

Poduri Annapurna, Heinzen Erin L, Chitsazzadeh Vida, Lasorsa Francesco Massimo, Elhosary P Christina, LaCoursiere Christopher M, Martin Emilie, Yuskaitis Christopher J, Hill Robert Sean, Atabay Kutay Deniz, Barry Brenda, Partlow Jennifer N, Bashiri Fahad A, Zeidan Radwan M, Elmalik Salah A, Kabiraj Mohammad M U, Kothare Sanjeev, Stödberg Tommy, McTague Amy, Kurian Manju A, Scheffer Ingrid E, Barkovich A James, Palmieri Ferdinando, Salih Mustafa A, Walsh Christopher A Ann Neurol IF: 7.5 2014-03-18

Mitochondrial glutamate carriers from Drosophila melanogaster: biochemical, evolutionary and modeling studies.

Lunetti Paola, Cappello Anna Rita, Marsano René Massimiliano, Pierri Ciro Leonardo, Carrisi Chiara, Martello Emanuela, Caggese Corrado, Dolce Vincenza, Capobianco Loredana Biochim Biophys Acta 2013-12-03

MiR-184 regulates insulin secretion through repression of Slc25a22.

Morita Sumiyo, Horii Takuro, Kimura Mika, Hatada Izuho PeerJ 2013-10-10

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.

McTague Amy, Appleton Richard, Avula Shivaram, Cross J Helen, King Mary D, Jacques Thomas S, Bhate Sanjay, Cronin Anthony, Curran Andrew, Desurkar Archana, Farrell Michael A, Hughes Elaine, Jefferson Rosalind, Lascelles Karine, Livingston John, Meyer Esther, McLellan Ailsa, Poduri Annapurna, Scheffer Ingrid E, Spinty Stefan, Kurian Manju A, Kneen Rachel Brain IF: 12.6 2013-06-24

Genes of early-onset epileptic encephalopathies: from genotype to phenotype.

Mastrangelo Mario, Leuzzi Vincenzo Pediatr Neurol IF: 2.0 2012-04-24

Ohtahara syndrome with emphasis on recent genetic discovery.

Pavone Piero, Spalice Alberto, Polizzi Agata, Parisi Pasquale, Ruggieri Martino Brain Dev IF: 1.7 2012-10-12

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SLC25A22 (solute carrier family 25 member 22)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

编码蛋白质

编码蛋白质

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

尚未收录相关数据

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

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