2. Gene
  3. ZBTB18 - zinc finger and BTB domain containing 18 Gene

ZBTB18 - zinc finger and BTB domain containing 18 Gene

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

中文名称：含锌指和 BTB 域 18

种属: Homo sapiens

同用名: RP58; MRD22; TAZ-1; ZNF238; C2H2-171

基因 ID: 10472 | 基因类型: protein coding

关于 ZBTB18

Cytogenetic location: 1q44 Genomic coordinates (GRCh38): 1:244,048,491-244,057,476 (from NCBI)

This gene has 7 transcripts (splice variants), 200 orthologues, 36 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 20.3), testis (RPKM 12.1) and 25 other tissues.

功能概要

该基因编码一种 C2H2 型锌指蛋白，该蛋白充当参与神经元发育的基因的转录抑制因子。编码的蛋白质识别特定的序列基序，并将染色质成分募集到目标基因。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 5 月]

This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

ZBTB18 基因产物(3)

mRNA Protein Name
NM_001278196.2 NP_001265125.1 zinc finger and BTB domain-containing protein 18 isoform 2
NM_006352.4 NP_006343.2 zinc finger and BTB domain-containing protein 18 isoform 2
NM_205768.3 NP_991331.1 zinc finger and BTB domain-containing protein 18 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 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
9756912 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
24722188 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
9756912 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
9756912 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
25796446 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in heterochromatin IDA
IDA: 通过直接分析推断
9756912 GOA
located in nucleus IDA
IDA: 通过直接分析推断
25796446 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

ZBTB18 蛋白结构

BTB

BTB: BTB/POZ domain (23 - 129)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (379 - 401)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (434 - 456)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (461 - 485)

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

zinc finger and BTB domain-containing protein 18

58 kDa repressor protein

ZBTB18 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
ZBTB18 Q99592 CTBP1 Homo sapiens Q13363-2
Anti Bait CoIP
36414381
种属内
ZBTB18 Q99592 CTBP1 Homo sapiens Q13363-2
Anti Tag CoIP
35800763
种属内
ZBTB18 Q99592 CTBP2 Homo sapiens P56545-3
Validated Y2H
25416956
种属内
ZBTB18 Q99592 CTBP2 Homo sapiens P56545-3
Y2H Prey Pooling
25416956
种属内
ZBTB18 Q99592 CTBP2 Homo sapiens P56545-3
Y2H Array
25416956
种属内
ZBTB18 Q99592 CTBP2 Homo sapiens P56545
Anti Tag CoIP
33961781
种属内
ZBTB18 Q99592 CTBP2 Homo sapiens P56545
Anti Bait CoIP
36414381
种属内
ZBTB18 Q99592 CTBP2 Homo sapiens P56545
Anti Tag CoIP
36414381
种属内
ZBTB18 Q99592 CTBP2 Homo sapiens P56545
Anti Bait CoIP
35800763
种属内
ZBTB18 Q99592 CTBP2 Homo sapiens P56545
Anti Tag CoIP
35800763
种属内
ZBTB18 Q99592 CTBP1 Homo sapiens Q13363
Anti Bait CoIP
36414381
种属内
ZBTB18 Q99592 CTBP1 Homo sapiens Q13363
Anti Tag CoIP
36414381
种属内
ZBTB18 Q99592 CTBP1 Homo sapiens Q13363
Anti Tag CoIP
33961781
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
Intellectual Developmental Disorder, Autosomal Dominant 22

MRD22

Mental Retardation, Autosomal Dominant 22

Autosomal Dominant Non-Syndromic Intellectual Disability 22

Distal Monosomy 1q

Autosomal Dominant Intellectual Developmental Disorder 22

Autosomal Dominant Mental Retardation 22

Distal Deletion 1q

Monosomy 1qter

Telomeric Deletion 1q

Mental Retardation, Autosomal Dominant, Type 22
Retinitis Pigmentosa 58

RP58

Retinitis Pigmentosa, Type 58
Developmental And Epileptic Encephalopathy 54

DEE54

Epileptic Encephalopathy, Early Infantile, 54

Eiee54

Developmental And Epileptic Encephalopathy, 54

Early Infantile Epileptic Encephalopathy 54

Encephalopathy, Epileptic, Early Infantile, Type 54
Transient Neonatal Thrombocytopenia
Transient Neonatal Neutropenia
Chromosome 3q29 Duplication Syndrome

Chromosome 3q29 Microduplication Syndrome

Trisomy 3q29

Microduplication 3q29 Syndrome

3q29 Microduplication

3q29 Microduplication Syndrome

3q29 Interstitial Microduplication
Barth Syndrome

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive
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
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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-RS15966 ZBTB18 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus ZBTB18 VGNC VGNC:107964
Mus musculus ZBTB18 MGD MGI:1353609
Bos taurus ZBTB18 VGNC VGNC:37063
Canis familiaris ZBTB18 VGNC VGNC:53842
Rattus norvegicus ZBTB18 RGD RGD:621548
Macaca mulatta ZBTB18 VGNC VGNC:78881
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z