2. Gene
  3. RERE - arginine-glutamic acid dipeptide repeats Gene

RERE - arginine-glutamic acid dipeptide repeats Gene

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

中文名称：精氨酸-谷氨酸二肽重复序列

种属: Homo sapiens

同用名: ARG; ARP; DNB1; ATN1L; NEDBEH

基因 ID: 473 | 基因类型: protein coding

关于 RERE

Cytogenetic location: 1p36.23 Genomic coordinates (GRCh38): 1:8,352,404-8,817,640 (from NCBI)

This gene has 22 transcripts (splice variants), 130 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in endometrium (RPKM 24.6), prostate (RPKM 18.3) and 25 other tissues.

功能概要

该基因编码含有精氨酸-谷氨酸 (RE) 二肽重复蛋白的萎缩蛋白家族成员。编码的蛋白质与细胞核中的转录因子共定位，其过度表达会引发细胞凋亡。小鼠中的一种类似蛋白质与组蛋白脱乙酰酶相关，被认为在胚胎发育过程中起转录共抑制因子的作用。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers Apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RERE 基因产物(3)

mRNA Protein Name
NM_001042681.2 NP_001036146.1 arginine-glutamic acid dipeptide repeats protein isoform a
NM_001042682.2 NP_001036147.1 arginine-glutamic acid dipeptide repeats protein isoform b
NM_012102.4 NP_036234.3 arginine-glutamic acid dipeptide repeats protein isoform a
基因本体论
  • 分子功能
  • 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
16713569 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
10814707 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

RERE 蛋白结构

BAH

BAH: BAH domain (104 - 280)

ELM2

ELM2: ELM2 domain (286 - 337)

GATA

GATA: GATA zinc finger (507 - 541)

Atrophin-1

Atrophin-1: Atrophin-1 family (568 - 1566)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1566 a.a.
蛋白主名 其他名称

arginine-glutamic acid dipeptide repeats protein

arginine-glutamic acid dipeptide (RE) repeats

RERE 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
RERE Q9P2R6 EHMT2 Homo sapiens Q96KQ7
Pull Down
18451879
种属内
RERE Q9P2R6 EHMT2 Homo sapiens Q96KQ7
Anti Tag CoIP
18451879
种属内
RERE Q9P2R6 EHMT2 Homo sapiens Q96KQ7
IF
18451879
种属内
RERE Q9P2R6 ATN1 Homo sapiens P54259
Y2H
16713569
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
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart

NEDBEH

Rere-Related Neurodevelopmental Syndrome
Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter
Charge Syndrome

Charge Association

Hall-Hittner Syndrome

Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

Hhs

Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

CHARGES
Dentatorubral-Pallidoluysian Atrophy

DRPLA

Naito-Oyanagi Disease

Haw River Syndrome

Myoclonic Epilepsy With Choreoathetosis

Nod

Ataxia, Chorea, Seizures, And Dementia

Dentatorubropallidoluysian Atrophy

Hrs

Naito Oyanagi Disease

Dentatorubral Pallidoluysian Atrophy

Dentatorubro-Pallidoluysian Atrophy

Myoclonic Epilepsies, Progressive

Atrophy, Pallidoluysian, Dentatorubral
Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified
Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma
Peters-Plus Syndrome

Krause-Kivlin Syndrome

Peters Plus Syndrome

Peters Anomaly

Irido-Corneo-Trabecular Dysgenesis

PTRPLS

Peters Anomaly With Short-Limb Dwarfism

Peters Anomaly-Short Limb Dwarfism Syndrome

Peters Anomaly With Short Limb Dwarfism

Peters Congenital Glaucoma

Krause-Van Schooneveld-Kivlin Syndrome

Peters' Plus Syndrome

Peters'-Plus Syndrome

Anomaly Peters
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
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-RS11848 RERE 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 RERE VGNC VGNC:76897
Bos taurus RERE VGNC VGNC:33872
Mus musculus RERE MGD MGI:2683486
Felis catus RERE VGNC VGNC:69291
Canis familiaris RERE VGNC VGNC:45477
Rattus norvegicus RERE RGD RGD:629475
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