• Gene id: 103

Gene Summary

• Gene Symbol: ADAR   Gene   UCSC   Ensembl
• Aliases: ADAR1, AGS6, DRADA, DSH, DSRAD, G1P1, IFI-4, IFI4, K88DSRBP, P136
• Gene name: adenosine deaminase RNA specific
• Alternate names: double-stranded RNA-specific adenosine deaminase, 136 kDa double-stranded RNA-binding protein, adenosine deaminase acting on RNA 1-A, dsRNA adenosine deaminase, dsRNA adeonosine deaminase, interferon-induced protein 4, interferon-inducible protein 4,
• Gene location: 1q21.3 (154627996: 154582056)     Exons: 21     NC_000001.11
• Gene summary(Entrez): This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis s
• OMIM: 146920

SNPs

rs7910927

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.63379150T>A
NC_000010.11   g.63379150T>G
NC_000010.10   g.65138910T>A
NC_000010.10   g.65138910T>G
NG_053187.1   g.147926A>T
NG_053187.1   g.147926A>C|SEQ=[T/A/G]|GENE=JMJD1C

rs10822184

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.63577393T>C
NC_000010.11   g.63577393T>G
NC_000010.10   g.65337153T>C
NC_000010.10   g.65337153T>G|SEQ=[T/C/G]|GENE=REEP3

rs8191246

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.82098435A>G
NC_000016.9   g.82132040A>G
NM_002153.3   c.1163A>G
NM_002153.2   c.1163A>G
XR_001751898.2   n.1381A>G
NP_002144.1   p.Ter388Trp|SEQ=[A/G]|GENE=HSD17B2

rs2290870

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.42574403T>C
NC_000004.11   g.42576420T>C|SEQ=[T/C]|GENE=ATP8A1

Protein Summary

• Protein general information: P55265  
  • Name: Double stranded RNA specific adenosine deaminase (DRADA) (EC 3.5.4.37) (136 kDa double stranded RNA binding protein) (p136) (Interferon inducible protein 4) (IFI 4) (K88DSRBP)
  • Length: 1226  
  • Mass: 136066
  • Tissue specificity: Ubiquitously expressed, highest levels were found in brain and lung (PubMed
• Sequence:

  MNPRQGYSLSGYYTHPFQGYEHRQLRYQQPGPGSSPSSFLLKQIEFLKGQLPEAPVIGKQTPSLPPSLPGLRPRF
  PVLLASSTRGRQVDIRGVPRGVHLRSQGLQRGFQHPSPRGRSLPQRGVDCLSSHFQELSIYQDQEQRILKFLEEL
  GEGKATTAHDLSGKLGTPKKEINRVLYSLAKKGKLQKEAGTPPLWKIAVSTQAWNQHSGVVRPDGHSQGAPNSDP
  SLEPEDRNSTSVSEDLLEPFIAVSAQAWNQHSGVVRPDSHSQGSPNSDPGLEPEDSNSTSALEDPLEFLDMAEIK
  EKICDYLFNVSDSSALNLAKNIGLTKARDINAVLIDMERQGDVYRQGTTPPIWHLTDKKRERMQIKRNTNSVPET
  APAAIPETKRNAEFLTCNIPTSNASNNMVTTEKVENGQEPVIKLENRQEARPEPARLKPPVHYNGPSKAGYVDFE
  NGQWATDDIPDDLNSIRAAPGEFRAIMEMPSFYSHGLPRCSPYKKLTECQLKNPISGLLEYAQFASQTCEFNMIE
  QSGPPHEPRFKFQVVINGREFPPAEAGSKKVAKQDAAMKAMTILLEEAKAKDSGKSEESSHYSTEKESEKTAESQ
  TPTPSATSFFSGKSPVTTLLECMHKLGNSCEFRLLSKEGPAHEPKFQYCVAVGAQTFPSVSAPSKKVAKQMAAEE
  AMKALHGEATNSMASDNQPEGMISESLDNLESMMPNKVRKIGELVRYLNTNPVGGLLEYARSHGFAAEFKLVDQS
  GPPHEPKFVYQAKVGGRWFPAVCAHSKKQGKQEAADAALRVLIGENEKAERMGFTEVTPVTGASLRRTMLLLSRS
  PEAQPKTLPLTGSTFHDQIAMLSHRCFNTLTNSFQPSLLGRKILAAIIMKKDSEDMGVVVSLGTGNRCVKGDSLS
  LKGETVNDCHAEIISRRGFIRFLYSELMKYNSQTAKDSIFEPAKGGEKLQIKKTVSFHLYISTAPCGDGALFDKS
  CSDRAMESTESRHYPVFENPKQGKLRTKVENGEGTIPVESSDIVPTWDGIRLGERLRTMSCSDKILRWNVLGLQG
  ALLTHFLQPIYLKSVTLGYLFSQGHLTRAICCRVTRDGSAFEDGLRHPFIVNHPKVGRVSIYDSKRQSGKTKETS
  VNWCLADGYDLEILDGTRGTVDGPRNELSRVSKKNIFLLFKKLCSFRYRRDLLRLSYGEAKKAARDYETAKNYFK
  KGLKDMGYGNWISKPQEEKNFYLCPV

• Structural information:
  • Protein Domains: (503..57-)
    (/note="DRBM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00266-)
    (614..68-)
    (/note="DRBM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00266-)
    (726..79-)
    (/note="DRBM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00266,-E)
  • Interpro: IPR002466  IPR014720  IPR000607  IPR036388  IPR036390   IPR042371  
  • Prosite: PS50141 PS50139 PS50137
  • CDD: cd00048
  • PDB: 1QBJ 1QGP 1XMK 2ACJ 2GXB 2L54 2MDR 3F21 3F22 3F23 3IRQ 3IRR 5ZU1 5ZUO 5ZUP
  • PDBsum: 1QBJ 1QGP 1XMK 2ACJ 2GXB 2L54 2MDR 3F21 3F22 3F23 3IRQ 3IRR 5ZU1 5ZUO 5ZUP
  • DIP: 29310
  • STRING: ENSP00000357459
• Other Databases: GeneCards:  ADAR  Malacards:  ADAR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005730	nucleolus	IBA	cellular component
GO:0006382	adenosine to inosine editing	IBA	biological process
GO:0006396	RNA processing	IBA	biological process
GO:0008251	tRNA-specific adenosine deaminase activity	IBA	molecular function
GO:0003725	double-stranded RNA binding	IBA	molecular function
GO:0003726	double-stranded RNA adenosine deaminase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0045070	positive regulation of viral genome replication	IDA	biological process
GO:0044530	supraspliceosomal complex	IDA	cellular component
GO:0044387	negative regulation of protein kinase activity by regulation of protein phosphorylation	IDA	biological process
GO:0035455	response to interferon-alpha	IDA	biological process
GO:0006382	adenosine to inosine editing	IDA	biological process
GO:0006382	adenosine to inosine editing	IDA	biological process
GO:0006382	adenosine to inosine editing	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045087	innate immune response	TAS	biological process
GO:0045070	positive regulation of viral genome replication	IMP	biological process
GO:0044387	negative regulation of protein kinase activity by regulation of protein phosphorylation	IMP	biological process
GO:0009615	response to virus	IMP	biological process
GO:0006382	adenosine to inosine editing	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004000	adenosine deaminase activity	IEA	molecular function
GO:0006396	RNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0003726	double-stranded RNA adenosine deaminase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0051607	defense response to virus	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003726	double-stranded RNA adenosine deaminase activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0016553	base conversion or substitution editing	IDA	biological process
GO:0035280	miRNA loading onto RISC involved in gene silencing by miRNA	IDA	biological process
GO:0031054	pre-miRNA processing	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003726	double-stranded RNA adenosine deaminase activity	IDA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006382	adenosine to inosine editing	TAS	biological process
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1900369	negative regulation of RNA interference	IEA	biological process
GO:0061484	hematopoietic stem cell homeostasis	IEA	biological process
GO:0060216	definitive hemopoiesis	IEA	biological process
GO:0045070	positive regulation of viral genome replication	IEA	biological process
GO:0044387	negative regulation of protein kinase activity by regulation of protein phosphorylation	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0006382	adenosine to inosine editing	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0098586	cellular response to virus	IEA	biological process
GO:0060339	negative regulation of type I interferon-mediated signaling pathway	IEA	biological process
GO:0035196	production of miRNAs involved in gene silencing by miRNA	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0002566	somatic diversification of immune receptors via somatic mutation	IEA	biological process
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003726	double-stranded RNA adenosine deaminase activity	NAS	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005634	nucleus	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05164	Influenza A
hsa05162	Measles
hsa04623	Cytosolic DNA-sensing pathway

Diseases

Associated diseases	References
Aicardi-Goutieres syndrome	KEGG:H00290
Dyschromatosis symmetrica hereditaria	KEGG:H00880
Aicardi-Goutieres syndrome	KEGG:H00290
Dyschromatosis symmetrica hereditaria	KEGG:H00880
Aicardi-Goutieres syndrome	PMID:23001123
Dyschromatosis symmetrica hereditaria	PMID:12916015
Dyschromatosis symmetrica hereditaria	PMID:15955093
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq