ADARB2

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

Basic information

Region (hg38): 10:1177312-1737525

Links

ENSG00000185736 ∙ NCBI:105 ∙ OMIM:602065 ∙ HGNC:227 ∙ Uniprot:Q9NS39 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADARB2 gene.

• Inborn genetic diseases (47 variants)
• not provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADARB2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	4	6
missense			44	3	2	49
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	44	5	6

Variants in ADARB2

This is a list of pathogenic ClinVar variants found in the ADARB2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-1183212-T-A		not specified	Uncertain significance (Oct 20, 2023)
10-1183225-G-A		not specified	Uncertain significance (Feb 28, 2023)
10-1183309-C-G		not specified	Uncertain significance (Dec 19, 2022)
10-1183345-C-T		not specified	Uncertain significance (Jun 29, 2022)
10-1183359-C-T		not specified	Uncertain significance (Jun 30, 2022)
10-1184874-C-T		not specified	Uncertain significance (Feb 13, 2024)
10-1184875-G-A		not specified	Uncertain significance (Sep 29, 2023)
10-1184883-C-T		not specified	Uncertain significance (Jul 20, 2021)
10-1184902-T-G		not specified	Uncertain significance (Oct 29, 2021)
10-1184934-C-T			Benign (Jun 27, 2018)
10-1185003-G-A		not specified	Uncertain significance (Jan 24, 2024)
10-1185021-G-A		not specified	Uncertain significance (Dec 26, 2023)
10-1199998-G-A		not specified	Uncertain significance (Mar 12, 2024)
10-1199999-C-G		not specified	Uncertain significance (Jul 19, 2023)
10-1217044-A-G		not specified	Uncertain significance (Jan 26, 2022)
10-1217086-C-T		not specified	Uncertain significance (Oct 04, 2022)
10-1217087-G-C		not specified	Uncertain significance (Dec 15, 2023)
10-1217099-C-T		not specified	Uncertain significance (Feb 13, 2024)
10-1233699-G-C		not specified	Uncertain significance (Jan 23, 2023)
10-1233724-G-A		not specified	Uncertain significance (Dec 19, 2023)
10-1233818-C-T			Benign (Jun 27, 2018)
10-1233837-C-T		not specified	Uncertain significance (Jul 20, 2021)
10-1233838-G-A		not specified	Uncertain significance (Mar 07, 2024)
10-1233838-G-T		not specified	Uncertain significance (May 05, 2023)
10-1242165-G-T		not specified	Uncertain significance (Oct 22, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADARB2	protein_coding	protein_coding	ENST00000381312	10	551598

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.856	0.144	125739	0	6	125745	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.73	353	457	0.772	0.0000337	4641
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000914	0.0000905
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000267	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.189
• hipred: Y
• hipred_score: 0.768
• ghis: 0.560

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.785

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adarb2
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: adenosine to inosine editing;RNA processing;mRNA processing
• Cellular component: nucleus;nucleolus;cytoplasm
• Molecular function: RNA binding;double-stranded RNA binding;double-stranded RNA adenosine deaminase activity;single-stranded RNA binding;adenosine deaminase activity;tRNA-specific adenosine deaminase activity;metal ion binding