2. Gene
  3. SZT2 - SZT2 subunit of KICSTOR complex Gene

SZT2 - SZT2 subunit of KICSTOR complex Gene

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

中文名称：KICSTOR 复合体的 SZT2 亚基

种属: Homo sapiens

同用名: DEE18; KICS1; SZT2A; SZT2B; EIEE18; C1orf84; KIAA0467

基因 ID: 23334 | 基因类型: protein coding

关于 SZT2

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:43,389,899-43,454,247 (from NCBI)

This gene has 19 transcripts (splice variants), 222 orthologues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 6.6), testis (RPKM 6.5) and 25 other tissues.

功能概要

由该基因编码的蛋白质在大脑中表达，主要在顶叶和额叶皮层以及背根神经节中表达。它定位于过氧化物酶体，并与抗氧化应激有关。它可能通过增加超氧化物歧化酶 (SOD) 活性发挥作用，但它本身没有直接的 SOD 活性。对小鼠的研究表明，该基因可降低癫痫发作阈值，还可能增强癫痫发生。[RefSeq 提供，2011 年 6 月]

The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011]

SZT2 基因产物(2)

mRNA Protein Name
NM_001365999.1 NP_001352928.1 KICSTOR complex protein SZT2 isoform 1
NM_015284.4 NP_056099.3 KICSTOR complex protein SZT2 isoform 2
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 protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to amino acid starvation IMP
IMP: 通过突变表型推断
28199306 GOA
involved in cellular response to glucose starvation IMP
IMP: 通过突变表型推断
28199306 GOA
involved in corpus callosum morphogenesis IMP
IMP: 通过突变表型推断
23932106 GOA
involved in negative regulation of TORC1 signaling IMP
IMP: 通过突变表型推断
28199306 GOA
involved in protein localization to lysosome IMP
IMP: 通过突变表型推断
28199306 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of GATOR1 complex IDA
IDA: 通过直接分析推断
28199306 GOA
part of GATOR2 complex IDA
IDA: 通过直接分析推断
28199306 GOA
part of KICSTOR complex IDA
IDA: 通过直接分析推断
28199306 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
28199315 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
蛋白主名 其他名称

KICSTOR complex protein SZT2

SZT2 subunit KICSTOR complex

SZT2 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
SZT2 Q5T011 NPRL3 Homo sapiens Q12980
Anti Tag CoIP
28199315
种属内
SZT2 Q5T011 WDR24 Homo sapiens Q96S15
Anti Tag CoIP
28199315
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
Developmental And Epileptic Encephalopathy 18

DEE18

Epileptic Encephalopathy, Early Infantile, 18

Early Infantile Epileptic Encephalopathy 18

Developmental And Epileptic Encephalopathy, 18

Eiee1

Eiee18

Encephalopathy, Epileptic, Early Infantile, Type 18
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy
Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee
Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Epilepsy, Idiopathic Generalized 14

EIG14

Epilepsy, Idiopathic Generalized, Susceptibility To, 14

Idiopathic Generalized Epilepsy 14

{Epilepsy, Idiopathic Generalized, Susceptibility To, 14}
Developmental And Epileptic Encephalopathy 27

DEE27

Epileptic Encephalopathy, Early Infantile, 27

Eiee27

Developmental And Epileptic Encephalopathy, 27

Early Infantile Epileptic Encephalopathy 27

Encephalopathy, Developmental And Epileptic, Type 27
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

BBSOAS

Optic Atrophy-Intellectual Disability Syndrome
Cardiomyopathy, Dilated, 1hh

Dilated Cardiomyopathy 1hh

CMD1HH

Cardiomyopathy, Dilated 1hh

Cardiomyopathy, Dilated, Type 1hh
Ayme-Gripp Syndrome

AYGRP

Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation

Aymé-Gripp Syndrome

Fine-Lubinsky Syndrome

Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome

Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome
Developmental And Epileptic Encephalopathy 13

Epileptic Encephalopathy, Early Infantile, 13

DEE13

Eiee13

Developmental And Epileptic Encephalopathy, 13

Early Infantile Epileptic Encephalopathy 13

Scn8a Encephalopathy

Early Infantile Epileptic Encephalopathy-13

Scn8a Epilepsy

Encephalopathy, Developmental And Epileptic, Type 13
Epilepsy, Familial Temporal Lobe, 3

Epilepsy, Familial Mesial Temporal Lobe

Fmtle

Familial Temporal Lobe Epilepsy 3

ETL3

Familial Mesial Temporal Lobe Epilepsy
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-RS14129 SZT2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus SZT2 MGD MGI:3033336
Bos taurus SZT2 VGNC VGNC:35551
Rattus norvegicus SZT2 RGD RGD:1308616
Canis familiaris SZT2 VGNC VGNC:47057
Macaca mulatta SZT2 VGNC VGNC:78232
Felis catus SZT2 VGNC VGNC:65911
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