This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, s... See more...

Aliases for ADARB1 Gene

Aliases for ADARB1 Gene

  • Adenosine Deaminase RNA Specific B1 2 3 5
  • DRADA2 2 3 4
  • ADAR2 2 3 4
  • RED1 2 3 4
  • Adenosine Deaminase, RNA-Specific, B1 (Homolog Of Rat RED1) 2 3
  • Double-Stranded RNA-Specific Editase 1 3 4
  • RNA-Editing Enzyme 1 3 4
  • DRABA2 2 3
  • DsRNA Adenosine Deaminase DRADA2 3
  • DsRNA Adenosine Deaminase 4
  • RNA Editing Deaminase 1 3
  • RNA-Editing Deaminase 1 4
  • RED1 Homolog (Rat) 2
  • EC 3.5.4.37 4
  • ADAR2a-L1 2
  • ADAR2a-L2 2
  • ADAR2a-L3 2
  • NEDHYMS 3
  • ADARB1 5
  • ADAR2g 2
  • ADAR2a 2
  • ADAR2b 2
  • ADAR2c 2
  • ADAR2d 2
  • HRED1 2

External Ids for ADARB1 Gene

Previous GeneCards Identifiers for ADARB1 Gene

  • GC21P043004
  • GC21P045351
  • GC21P045350
  • GC21P045318
  • GC21P046493
  • GC21P031920

Summaries for ADARB1 Gene

Entrez Gene Summary for ADARB1 Gene

  • This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]

GeneCards Summary for ADARB1 Gene

ADARB1 (Adenosine Deaminase RNA Specific B1) is a Protein Coding gene. Diseases associated with ADARB1 include Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures and Dyschromatosis Symmetrica Hereditaria. Among its related pathways are ATP/ITP metabolism and mRNA Editing- A to I Conversion. Gene Ontology (GO) annotations related to this gene include mRNA binding. An important paralog of this gene is ADARB2.

UniProtKB/Swiss-Prot Summary for ADARB1 Gene

  • Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependent activities such as microRNA production or targeting or protein-RNA interactions. Can edit both viral and cellular RNAs and can edit RNAs at multiple sites (hyper-editing) or at specific sites (site-specific editing). Its cellular RNA substrates include: bladder cancer-associated protein (BLCAP), neurotransmitter receptors for glutamate (GRIA2 and GRIK2) and serotonin (HTR2C), GABA receptor (GABRA3) and potassium voltage-gated channel (KCNA1). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alter their functional activities. Edits GRIA2 at both the Q/R and R/G sites efficiently but converts the adenosine in hotspot1 much less efficiently. Can exert a proviral effect towards human immunodeficiency virus type 1 (HIV-1) and enhances its replication via both an editing-dependent and editing-independent mechanism. The former involves editing of adenosines in the 5'UTR while the latter occurs via suppression of EIF2AK2/PKR activation and function. Can inhibit cell proliferation and migration and can stimulate exocytosis.

Gene Wiki entry for ADARB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADARB1 Gene

Genomics for ADARB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ADARB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADARB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADARB1

Top Transcription factor binding sites by QIAGEN in the ADARB1 gene promoter:
  • CREB
  • deltaCREB
  • p53

Genomic Locations for ADARB1 Gene

Genomic Locations for ADARB1 Gene
chr21:45,073,853-45,226,563
(GRCh38/hg38)
Size:
152,711 bases
Orientation:
Plus strand
chr21:46,493,768-46,646,478
(GRCh37/hg19)
Size:
152,711 bases
Orientation:
Plus strand

Genomic View for ADARB1 Gene

Genes around ADARB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADARB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADARB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADARB1 Gene

Proteins for ADARB1 Gene

  • Protein details for ADARB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78563-RED1_HUMAN
    Recommended name:
    Double-stranded RNA-specific editase 1
    Protein Accession:
    P78563
    Secondary Accessions:
    • A6NFK8
    • A6NJ84
    • C3TTQ1
    • C3TTQ2
    • C9JUP4
    • G5E9B4
    • O00395
    • O00465
    • O00691
    • O00692
    • P78555
    • Q4AE77
    • Q4AE79
    • Q6P0M9
    • Q8NFA1
    • Q8NFD1

    Protein attributes for ADARB1 Gene

    Size:
    741 amino acids
    Molecular mass:
    80763 Da
    Cofactor:
    Name=1D-myo-inositol hexakisphosphate; Xref=ChEBI:CHEBI:58130;
    Quaternary structure:
    • Homodimer. Homodimerization is essential for its catalytic activity. Can form heterodimers with isoform 5 of ADAR/ADAR1.
    SequenceCaution:
    • Sequence=ACN49027.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 1]: Alu insert from position 465 to 505. Has a lower catalytic activity than isoform 2. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 2]: Has a higher catalytic activity than isoform 1.
    • [Isoform 5]: Likely expressed from an alternative promoter. Contains a region highly similar to the so-called ssRNA-binding R-domain of ADARB2.

    Three dimensional structures from OCA and Proteopedia for ADARB1 Gene

    Alternative splice isoforms for ADARB1 Gene

neXtProt entry for ADARB1 Gene

Post-translational modifications for ADARB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ADARB1 Gene

Domains & Families for ADARB1 Gene

Gene Families for ADARB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ADARB1 Gene

InterPro:
Blocks:
  • Double-stranded RNA binding (DsRBD) domain
  • Adenosine deaminase/editase
ProtoNet:

Suggested Antigen Peptide Sequences for ADARB1 Gene

GenScript: Design optimal peptide antigens:
  • RNA-specific adenosine deaminase B1 isoform ADAR2R (C3TTQ2_HUMAN)
  • RNA editing deaminase 1 (O43263_HUMAN)
  • Adenosine deaminase acting on RNA type2d (Q4AE77_HUMAN)
  • Adenosine deaminase, RNA-specific, B1 (RED1 homolog rat) (Q6P0M9_HUMAN)
  • RNA adenosine deaminase (Q86XN4_HUMAN)
genes like me logo Genes that share domains with ADARB1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ADARB1 Gene

Function for ADARB1 Gene

Molecular function for ADARB1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependent activities such as microRNA production or targeting or protein-RNA interactions. Can edit both viral and cellular RNAs and can edit RNAs at multiple sites (hyper-editing) or at specific sites (site-specific editing). Its cellular RNA substrates include: bladder cancer-associated protein (BLCAP), neurotransmitter receptors for glutamate (GRIA2 and GRIK2) and serotonin (HTR2C), GABA receptor (GABRA3) and potassium voltage-gated channel (KCNA1). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alter their functional activities. Edits GRIA2 at both the Q/R and R/G sites efficiently but converts the adenosine in hotspot1 much less efficiently. Can exert a proviral effect towards human immunodeficiency virus type 1 (HIV-1) and enhances its replication via both an editing-dependent and editing-independent mechanism. The former involves editing of adenosines in the 5'UTR while the latter occurs via suppression of EIF2AK2/PKR activation and function. Can inhibit cell proliferation and migration and can stimulate exocytosis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=adenosine in double-stranded RNA + H(+) + H2O = inosine in double-stranded RNA + NH4(+); Xref=Rhea:RHEA:10120, Rhea:RHEA-COMP:13885, Rhea:RHEA-COMP:13886, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28938, ChEBI:CHEBI:74411, ChEBI:CHEBI:82852; EC=3.5.4.37; Evidence={ECO:0000269|PubMed:16141067, ECO:0000269|PubMed:9149227};.

Enzyme Numbers (IUBMB) for ADARB1 Gene

Phenotypes From GWAS Catalog for ADARB1 Gene

Gene Ontology (GO) - Molecular Function for ADARB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0003725 double-stranded RNA binding IBA 21873635
GO:0003726 double-stranded RNA adenosine deaminase activity IBA 21873635
GO:0003729 mRNA binding TAS 9149227
GO:0004000 adenosine deaminase activity IEA --
genes like me logo Genes that share ontologies with ADARB1: view
genes like me logo Genes that share phenotypes with ADARB1: view

Animal Models for ADARB1 Gene

MGI Knock Outs for ADARB1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADARB1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADARB1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADARB1 Gene

Localization for ADARB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADARB1 Gene

Nucleus. Nucleus, nucleolus. Note=Shuttles between nucleoli and the nucleoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADARB1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADARB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IBA,IDA 18178553
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with ADARB1: view

Pathways & Interactions for ADARB1 Gene

genes like me logo Genes that share pathways with ADARB1: view

Pathways by source for ADARB1 Gene

1 GeneGo (Thomson Reuters) pathway for ADARB1 Gene
  • ATP/ITP metabolism

Gene Ontology (GO) - Biological Process for ADARB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006382 adenosine to inosine editing TAS --
GO:0006396 RNA processing IBA 21873635
GO:0006397 mRNA processing IEA --
GO:0007274 neuromuscular synaptic transmission IEA --
genes like me logo Genes that share ontologies with ADARB1: view

No data available for SIGNOR curated interactions for ADARB1 Gene

Drugs & Compounds for ADARB1 Gene

(4) Drugs for ADARB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for ADARB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ADARB1: view

Transcripts for ADARB1 Gene

mRNA/cDNA for ADARB1 Gene

7 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADARB1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADARB1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - -
SP7: - - - - - - - - - - - - - - -
SP8: - -
SP9: -
SP10: - - - - - - - -
SP11:
SP12: - - - - - -
SP13:
SP14:

ExUns: 22 ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26a · 26b
SP1: - - -
SP2: -
SP3: -
SP4: - - -
SP5: -
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - -

Relevant External Links for ADARB1 Gene

GeneLoc Exon Structure for
ADARB1

Expression for ADARB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADARB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADARB1 Gene

This gene is overexpressed in Artery - Tibial (x6.2), Esophagus - Gastroesophageal Junction (x4.1), and Esophagus - Muscularis (x4.0).

Protein differential expression in normal tissues from HIPED for ADARB1 Gene

This gene is overexpressed in Retina (13.2), Blymphocyte (9.2), Prostate (8.9), Peripheral blood mononuclear cells (7.8), Urinary Bladder (6.2), and Testis (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ADARB1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADARB1

SOURCE GeneReport for Unigene cluster for ADARB1 Gene:

Hs.474018

mRNA Expression by UniProt/SwissProt for ADARB1 Gene:

P78563-RED1_HUMAN
Tissue specificity: Highly expressed in brain and heart and at lower levels in placenta. Fair expression in lung, liver and kidney. Detected in brain, heart, kidney, lung and liver (at protein level). Isoform 5 is high expressed in hippocampus and colon. Isoform 5 is expressed in pediatric astrocytomas and the protein has a decreased RNA-editing activity. The decrease in RNA editing correlates with the grade of malignancy of the tumors, with the high grade tumors showing lower editing is seen.

Evidence on tissue expression from TISSUES for ADARB1 Gene

  • Nervous system(4.8)
  • Skin(2.4)
  • Blood(2)
genes like me logo Genes that share expression patterns with ADARB1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADARB1 Gene

Orthologs for ADARB1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ADARB1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ADARB1 30 31
  • 99.9 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Adarb1 30 17 31
  • 87.73 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Adarb1 30
  • 87.59 (n)
Dog
(Canis familiaris)
Mammalia ADARB1 30 31
  • 86.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ADARB1 30 31
  • 84.78 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ADARB1 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ADARB1 30 31
  • 78.3 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ADARB1 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia adarb1 30
  • 72.08 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23829 30
Zebrafish
(Danio rerio)
Actinopterygii adarb1b 31
  • 79 (a)
OneToMany
LOC558759 30
  • 72.53 (n)
adarb1a 31
  • 71 (a)
OneToMany
adarb1 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000185 30
  • 54.18 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Adar 30 31 32
  • 52.22 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea adr-2 30
  • 42.87 (n)
adr-1 32
  • 30 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAD1 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToMany
Species where no ortholog for ADARB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ADARB1 Gene

ENSEMBL:
Gene Tree for ADARB1 (if available)
TreeFam:
Gene Tree for ADARB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADARB1: view image

Paralogs for ADARB1 Gene

Paralogs for ADARB1 Gene

(5) SIMAP similar genes for ADARB1 Gene using alignment to 5 proteins:

  • RED1_HUMAN
  • C3TTQ2_HUMAN
  • C9JUP4_HUMAN
  • G5E9B4_HUMAN
  • Q6P0M9_HUMAN

Pseudogenes.org Pseudogenes for ADARB1 Gene

genes like me logo Genes that share paralogs with ADARB1: view

Variants for ADARB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADARB1 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
707858 Likely Benign: not provided 45,176,187(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
783883 Benign: not provided 45,222,182(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
786691 Benign: not provided 45,176,010(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
870449 Pathogenic: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES 45,182,607(+) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
870450 Pathogenic: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES 45,185,018(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for ADARB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ADARB1 Gene

Variant ID Type Subtype PubMed ID
dgv2406n106 CNV deletion 24896259
dgv2407n106 CNV deletion 24896259
dgv280e215 CNV deletion 23714750
dgv7899n54 CNV gain 21841781
esv1049502 CNV insertion 17803354
esv1361921 CNV deletion 17803354
esv1612638 CNV deletion 17803354
esv2043847 CNV deletion 18987734
esv2213161 CNV deletion 18987734
esv2483147 CNV insertion 19546169
esv2723714 CNV deletion 23290073
esv2723715 CNV deletion 23290073
esv2723716 CNV deletion 23290073
esv2723718 CNV deletion 23290073
esv2723719 CNV deletion 23290073
esv3417671 CNV duplication 20981092
esv3568218 CNV loss 25503493
esv995257 CNV deletion 20482838
esv998882 CNV deletion 20482838
esv999386 CNV deletion 20482838
nsv1072189 CNV deletion 25765185
nsv1073138 CNV deletion 25765185
nsv1117933 CNV deletion 24896259
nsv1127902 CNV deletion 24896259
nsv1136647 CNV deletion 24896259
nsv1143020 CNV tandem duplication 24896259
nsv1148872 CNV deletion 26484159
nsv1149859 CNV deletion 26484159
nsv187030 CNV deletion 16902084
nsv187318 CNV deletion 16902084
nsv187447 CNV insertion 16902084
nsv3541 CNV deletion 18451855
nsv509802 CNV insertion 20534489
nsv513577 CNV insertion 21212237
nsv522002 CNV gain 19592680
nsv587841 CNV loss 21841781
nsv587842 CNV loss 21841781
nsv834110 CNV loss 17160897
nsv953651 CNV deletion 24416366

Variation tolerance for ADARB1 Gene

Residual Variation Intolerance Score: 5.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADARB1 Gene

Human Gene Mutation Database (HGMD)
ADARB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADARB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADARB1 Gene

Disorders for ADARB1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ADARB1 Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ADARB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ADARB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADARB1 Gene

Publications for ADARB1 Gene

  1. Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3. (PMID: 9143496) Mittaz L … Antonarakis SE (Genomics 1997) 2 3 4 23
  2. Novel exon of mammalian ADAR2 extends open reading frame. (PMID: 19156214) Maas S … Gommans WM (PloS one 2009) 3 4 23
  3. Down-regulation of RNA editing in pediatric astrocytomas: ADAR2 editing activity inhibits cell migration and proliferation. (PMID: 18178553) Cenci C … Gallo A (The Journal of biological chemistry 2008) 3 4 23
  4. Novel splice variants of human ADAR2 mRNA: skipping of the exon encoding the dsRNA-binding domains, and multiple C-terminal splice sites. (PMID: 16297572) Kawahara Y … Kwak S (Gene 2005) 3 4 23
  5. Inositol hexakisphosphate is bound in the ADAR2 core and required for RNA editing. (PMID: 16141067) Macbeth MR … Bass BL (Science (New York, N.Y.) 2005) 3 4 23

Products for ADARB1 Gene

  • Signalway Proteins for ADARB1

Sources for ADARB1 Gene