RERE - arginine-glutamic acid dipeptide repeats Gene

Also Known as ARG; ARP; DNB1; ATN1L; NEDBEH

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 473

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	16713569	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in nucleus	IDA IDA: Inferred from direct assay	10814707	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RERE Protein Structure

BAH

ELM2

GATA

Atrophin-1

0
300
600
900
1200
1566 a.a.

Protein Preferred Names	Protein Names
arginine-glutamic acid dipeptide repeats protein	arginine-glutamic acid dipeptide (RE) repeats

RERE Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	RERE	Q9P2R6	EHMT2	Homo sapiens	Q96KQ7	Pull Down	18451879
Intra	RERE	Q9P2R6	EHMT2	Homo sapiens	Q96KQ7	Anti Tag CoIP	18451879
Intra	RERE	Q9P2R6	EHMT2	Homo sapiens	Q96KQ7	IF	18451879
Intra	RERE	Q9P2R6	ATN1	Homo sapiens	P54259	Y2H	16713569

Cross: Cross-species interaction Intra: Intraspecies interaction

RERE 抗体

製品番号	製品名	アプリケーション	反応性
HY-P89564	atrophin-2 Antibody (YA8908)	WB, IP	human

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS11848	RERE Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	RERE	NCBI