ADARB2 adenosine deaminase RNA specific B2 (inactive) [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADARB2provided by HGNC
Official Full Name: adenosine deaminase RNA specific B2 (inactive)provided by HGNC
Primary source: HGNC:HGNC:227
See related: Ensembl:ENSG00000185736 MIM:602065; AllianceGenome:HGNC:227
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RED2; ADAR3
Summary: This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 4.7), salivary gland (RPKM 0.5) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p15.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (1177313..1737525, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (1174042..1734916, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (1223253..1779719, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genome-wide association study reveals a locus in ADARB2 for complete freedom from headache in Danish Blood Donors.
Title: Genome-wide association study reveals a locus in ADARB2 for complete freedom from headache in Danish Blood Donors.
The allelic regulation of tumor suppressor ADARB2 in papillary thyroid carcinoma.
Title: The allelic regulation of tumor suppressor ADARB2 in papillary thyroid carcinoma.
RNA binding by ADAR3 inhibits adenosine-to-inosine editing and promotes expression of immune response protein MAVS.
Title: RNA binding by ADAR3 inhibits adenosine-to-inosine editing and promotes expression of immune response protein MAVS.
ADAR3 activates NF-kappaB signaling and promotes glioblastoma cell resistance to temozolomide.
Title: ADAR3 activates NF-κB signaling and promotes glioblastoma cell resistance to temozolomide.
Results found that DNA methylation mark in ADARB2 gene is not predictive for Alzheimer's disease and becomes differentially methylated after disease onset.
Title: Peripheral blood DNA methylation differences in twin pairs discordant for Alzheimer's disease.
Novel ADAR3 binding sites discovered include the 3'-UTRs of the mRNAs encoding early growth response 1 (EGR1) and dual specificity phosphatase 1.
Title: RNA binding candidates for human ADAR3 from substrates of a gain of function mutant expressed in neuronal cells.
High ADAR3 expression is associated with Glioblastoma.
Title: Adenosine Deaminase That Acts on RNA 3 (ADAR3) Binding to Glutamate Receptor Subunit B Pre-mRNA Inhibits RNA Editing in Glioblastoma.
The SNP in ADARB2 related to longevity is associated with metabolic disorders. This finding suggests that genetic factors modulate human longevity via the regulation of metabolic factors such as abdominal obesity and lipid profiles.
Title: A single nucleotide polymorphism of the adenosine deaminase, RNA-specific gene is associated with the serum triglyceride level, abdominal circumference, and serum adiponectin concentration.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: RNA editing genes associated with extreme old age in humans and with lifespan in C. elegans.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies new susceptibility loci for migraine. EBI GWAS Catalog EBI GWAS CatalogPubMed
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed
Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 inhibits adenosine deaminase (ADA) binding to CD26 (dipeptidyl-peptidase 4) in both CD4+ and CD4- cells; this effect requires the interaction of gp120 with CD4 or CXCR4	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S262 (e-PCR)
- UniSTS:147980

NoName (e-PCR)
- UniSTS:482574

D10S559 (e-PCR)
- UniSTS:1050

RH98543 (e-PCR)
- UniSTS:86811

D10S594 (e-PCR), detects polymorphism
- UniSTS:58146

D10S559 (e-PCR)
- UniSTS:13093

SHGC-149750 (e-PCR)
- UniSTS:177195

D10S594 (e-PCR), detects polymorphism
- UniSTS:54066

SGC36944 (e-PCR)
- UniSTS:58175

RH66275 (e-PCR)
- UniSTS:48713

SHGC-146806 (e-PCR)
- UniSTS:175444

SHGC-146044 (e-PCR)
- UniSTS:174958

RH124062 (e-PCR)
- UniSTS:138863

D10S526 (e-PCR)
- UniSTS:57982

SHGC-58206 (e-PCR)
- UniSTS:64647

WI-21857 (e-PCR)
- UniSTS:20114

SHGC-149080 (e-PCR)
- UniSTS:176788

D10S559 (e-PCR)
- UniSTS:6561

D10S1474 (e-PCR)
- UniSTS:149423

SHGC-146129 (e-PCR)
- UniSTS:175025

SHGC-149557 (e-PCR)
- UniSTS:177078

SHGC-148380 (e-PCR)
- UniSTS:176362

D10S2479 (e-PCR)
- UniSTS:68337

SHGC-150618 (e-PCR)
- UniSTS:173304

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables adenosine deaminase activity	IEA Inferred from Electronic Annotation more info
enables double-stranded RNA adenosine deaminase activity	IBA Inferred from Biological aspect of Ancestor more info
enables double-stranded RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables single-stranded RNA binding	TAS Traceable Author Statement more info	PubMed
enables tRNA-specific adenosine deaminase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in RNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenosine to inosine editing	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: double-stranded RNA-specific editase B2

Names: RED2 homolog; RNA-dependent adenosine deaminase 3; RNA-editing deaminase 2; RNA-editing enzyme 2; adenosine deaminase, RNA-specific, B2 (RED1 homolog rat); adenosine deaminase, RNA-specific, B2 (RED2 homolog rat); adenosine deaminase, RNA-specific, B2 (non-functional); dsRNA adenosine deaminase B2; homolog of rat BLUE

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_018702.4 → NP_061172.1 double-stranded RNA-specific editase B2

See identical proteins and their annotated locations for NP_061172.1

Status: REVIEWED

Source sequence(s)

AC026224, AF034837, AL392083, BC140852

Consensus CDS

CCDS7058.1

UniProtKB/Swiss-Prot

B2RPJ5, Q5VUT6, Q5VW42, Q9NS39

Related

ENSP00000370713.1, ENST00000381312.6

Conserved Domains (2) summary

smart00358
Location:126 → 188

DSRM; Double-stranded RNA binding motif

smart00552
Location:361 → 736

ADEAMc; tRNA-specific and double-stranded RNA adenosine deaminase (RNA-specific editase)