2. Gene
  3. CLIC2 - chloride intracellular channel 2 Gene

CLIC2 - chloride intracellular channel 2 Gene

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

中文名称：氯离子胞内通道 2

种属: Homo sapiens

同用名: CLCNL2; CLIC2b; MRXS32; XAP121

基因 ID: 1193 | 基因类型: protein coding

关于 CLIC2

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:155,276,211-155,334,614 (from NCBI)

This gene has 4 transcripts (splice variants), 234 orthologues, 14 paralogues and is associated with 4 phenotypes. Broad expression in spleen (RPKM 21.8), thyroid (RPKM 19.2) and 23 other tissues.

功能概要

该基因编码氯离子细胞内通道蛋白。氯离子通道是一组不同的蛋白质，可调节基本细胞过程，包括稳定细胞膜电位、跨上皮转运、维持细胞内 pH 值和调节细胞体积。这种蛋白质在抑制兰尼碱受体 2 的功能方面发挥作用。这种基因的突变是 X 连锁形式认知障碍的原因。[RefSeq 提供，2017 年 7 月]

This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. This protein plays a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]

CLIC2 基因产物(1)

mRNA Protein Name
NM_001289.6 NP_001280.3 chloride intracellular channel protein 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 glutathione peroxidase activity IDA
IDA: 通过直接分析推断
15147738 GOA
NOT enables glutathione transferase activity IDA
IDA: 通过直接分析推断
15147738 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12681486 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of ryanodine-sensitive calcium-release channel activity IDA
IDA: 通过直接分析推断
15147738 GOA
involved in positive regulation of binding IDA
IDA: 通过直接分析推断
15916532 GOA
involved in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IDA
IDA: 通过直接分析推断
15147738 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
15916532 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

CLIC2 蛋白结构

GST_N_3

GST_N_3: Glutathione S-transferase, N-terminal domain (30 - 95)

GST_C_2

GST_C_2: Glutathione S-transferase, C-terminal domain (141 - 216)

  • 0
  • 100
  • 200
  • 247 a.a.
蛋白主名 其他名称

chloride intracellular channel protein 2

CLIC2 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
CLIC2 O15247 TPRN Homo sapiens Q4KMQ1-2
Validated Y2H
32296183
种属内
CLIC2 O15247 TPRN Homo sapiens Q4KMQ1-2
Y2H Prey Pooling
32296183
种属内
CLIC2 O15247 TPRN Homo sapiens Q4KMQ1-2
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 CLIC2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7843 CLIC2/XAP121 Protein, Human (His) O15247 (M1-S247) ≥95%

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, X-Linked, Syndromic 32

MRXS32

Mental Retardation, X-Linked, Syndromic 32

Intellectual Developmental Disorder, X-Linked Syndromic 32

Mental Retardation, X-Linked, Syndromic, Type 32
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome

Mental Retardation, X-Linked, Syndromic 32

Mrxs32
Chromosome Xq28 Duplication Syndrome

Distal Xq28 Microduplication Syndrome

Distal Dup(X)Q(28)

Distal Trisomy Xq28

Int22h1/Int22h2 Mediated-Xq28 Microduplication Syndrome
Non-Syndromic X-Linked Intellectual Disability 72

Mrx72
Syndromic X-Linked Intellectual Disability Snyder Type

Snyder-Robinson Syndrome

Mental Retardation, X-Linked, Snyder-Robinson Type

Spermine Synthase Deficiency

Srs

Snyder-Robinson Mental Retardation Syndrome

X-Linked Intellectual Disability Snyder-Robinson Type

Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

Snyder-Robinson X-Linked Mental Retardation Syndrome
Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency

Favism

Favism, Susceptibility To

Hemolytic Anemia, G6pd Deficient

Class I Glucose-6-Phosphate Dehydrogenase Deficiency

Class I G6pd Deficiency

Severe Hemolytic Anemia Due To G6pd Deficiency

Anemia, Non-Spherocytic Hemolytic, Due To G6pd Deficiency

NSHA

G6pd Deficient Hemolytic Anemia
Waisman Syndrome

Early-Onset Parkinsonism-Intellectual Disability Syndrome

Bgmr

Wsn

Laxova-Opitz Syndrome

WSMN

Parkinsonism, Early-Onset, With Mental Retardation

Basal Ganglion Disorder With Mental Retardation

Basal Ganglia Disorder With Intellectual Disability

Laxova Brown Hogan Syndrome

X-Linked Recessive Basal Ganglia Disorder With Intellectual Disability
Murray Valley Encephalitis

Australian Encephalitis

Australian X Disease

Encephalitis Australia

Murray River Encephalitis

Australian Arboencephalitis

Australian X Disorder

Mve - [Murray Valley Encephalitis]
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
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-RS02804 CLIC2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CLIC2 VGNC VGNC:39338
Macaca mulatta CLIC2 VGNC VGNC:71254
Bos taurus CLIC2 VGNC VGNC:27440
Rattus norvegicus CLIC2 RGD RGD:1306580
Others CLIC2 NCBI
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