ADARB2

protein-coding

adenosine deaminase RNA specific B2 (inactive), the group of Adenosine deaminases acting on RNA

Gene 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]

MANE transcript

NM_018702.4

Inheritance

—

ClinVar variants

U:140B:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.17

Max pathogenic AF

—

Genomic locus

chr10:1,177,313-1,737,525

External References & Databases

Ensembl (ENSG00000185736)

Transcript & Mutation Effects

hg38 • Region Span ~560.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ADARB2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 145

not providedTotal: 10

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018702.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	2 clinvar	4 clinvar	7
missense			139 clinvar	6 clinvar	2 clinvar	147
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	140	8	6	154

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018702.4	RefSeq	NP_061172.1	10	MANE Select
ENST00000381312.6	Ensembl	ENSP00000370713.1	10	MANE Select
ENST00000381305.1	Ensembl	ENSP00000370706.1	3	Standard
ENST00000381305.2	Ensembl	ENSP00000370706.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

adenosine to inosine editing
RNA processing
mRNA processing

Molecular Function

RNA binding
double-stranded RNA binding
double-stranded RNA adenosine deaminase activity
single-stranded RNA binding
adenosine deaminase activity

Cellular Component

nucleus
nucleolus
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000381312
Coding exons: 10
Length: 551598
Individuals with no LoFs: 125739
Homozygous LoFs: 0
Heterozygous LoFs: 6
Defined: 125745
p: 0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.73	353	457	0.772	0.0000337	4641
Missense (PolyPhen)		138	195.68	0.70522		2090
Synonymous	0.0800	223	225	0.993	0.0000190	1599
Loss of Function	3.78	4	24.0	0.167	0.00000119	279

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000027	0.000026	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Lacks editing activity. It prevents the binding of other ADAR enzymes to targets in vitro, and decreases the efficiency of these enzymes. Capable of binding to dsRNA but also to ssRNA.;

Recessive Scores

pRec: 0.146

Intolerance Scores

LoFtool: 0.0446
RVIS EVS: -0.51
RVIS percentile EVS: 21.8

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.785

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium