• Gene id: 105

Gene Summary

• Gene Symbol: ADARB2   Gene   UCSC   Ensembl
• Aliases: ADAR3, RED2
• Gene name: adenosine deaminase RNA specific B2 (inactive)
• Alternate names: double-stranded RNA-specific editase B2, 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), adenosi,
• Gene location: 10p15.3 (1737524: 1177312)     Exons: 10     NC_000010.11
• Gene summary(Entrez): 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]
• OMIM: 602659

SNPs

rs76027725

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

NC_000007.14   g.50058101A>G
NC_000007.13   g.50097697A>G
NM_007009.3   c.375T>C
NM_007009.2   c.375T>C
XM_011515102.2   c.153T>C
XM_011515095.2   c.375T>C
XM_011515096.2   c.372T>C
XM_011515100.2   c.249T>C
XM_024446646.1   c.150T>C
XR_001744543.1   n.439T>C
XM_0115150  

rs61696422

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

NC_000007.14   g.50093121C>G
NC_000007.14   g.50093121C>T
NC_000007.13   g.50132717C>G
NC_000007.13   g.50132717C>T
NM_007009.3   c.74G>C
NM_007009.3   c.74G>A
NM_007009.2   c.74G>C
NM_007009.2   c.74G>A
XM_011515101.3   c.74G>C
XM_011515101.3   c.74G>A
XM_011515102.2   c

rs35576928

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

NC_000016.10   g.11281137C>A
NC_000016.10   g.11281137C>G
NC_000016.9   g.11374994C>A
NC_000016.9   g.11374994C>G
NM_002761.3   c.102G>T
NM_002761.3   c.102G>C
NM_002761.2   c.102G>T
NM_002761.2   c.102G>C
NP_002752.1   p.Arg34Ser
NP_002752.1   p.Arg34Ser|SEQ=[C/A/G]|GE

rs28362491

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000004.12   g.102500998_102501001ATTG[1]
NC_000004.11   g.103422155_103422158ATTG[1]
NG_050628.1   g.4670_4673ATTG[1]|SEQ=[ATTG/-]|GENE=NFKB1
LOC105377621   105377621

rs13017562

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

NC_000002.12   g.28492063G>A
NC_000002.12   g.28492063G>C
NC_000002.11   g.28714930G>A
NC_000002.11   g.28714930G>C
NG_051297.1   g.8485G>A
NG_051297.1   g.8485G>C|SEQ=[G/A/C]|GENE=PLB1

rs12520985

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

NC_000005.10   g.133911770T>G
NC_000005.9   g.133247461T>G|SEQ=[T/G]|GENE=WSPAR

rs7969759

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

NC_000012.12   g.67435923G>A
NC_000012.11   g.67829703G>A|SEQ=[G/A]|GENE=LOC105369812

rs2301365

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

NC_000016.10   g.11281429G>T
NC_000016.9   g.11375286G>T|SEQ=[G/T]|GENE=PRM1
LOC105371082   105371082

rs2231599

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

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs2070923

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

NC_000016.10   g.11275998G>C
NC_000016.10   g.11275998G>T
NC_000016.9   g.11369855G>C
NC_000016.9   g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2
LOC105371082   105371082

rs1646022

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

NC_000016.10   g.11276073C>G
NC_000016.10   g.11276073C>T
NC_000016.9   g.11369930C>G
NC_000016.9   g.11369930C>T
NM_001286359.1   c.298G>C
NM_001286359.1   c.298G>A
NM_001286359.2   c.298G>C
NM_001286359.2   c.298G>A
NP_001273288.1   p.Ala100Pro
NP_001273288.1   p.Ala1

rs737008

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

NC_000016.10   g.11281009G>A
NC_000016.10   g.11281009G>T
NC_000016.9   g.11374866G>A
NC_000016.9   g.11374866G>T
NM_002761.3   c.139C>T
NM_002761.3   c.139C>A
NM_002761.2   c.139C>T
NM_002761.2   c.139C>A
NP_002752.1   p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1
LOC1053710  

rs508485

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

NC_000011.10   g.94621313C>T
NC_000011.9   g.94354479C>T
NM_152431.3   c.*321C>T
NM_152431.2   c.*321C>T|SEQ=[C/T]|GENE=PIWIL4
LOC105369438   105369438

rs7354779

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

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

rs7811653

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

NC_000007.14   g.46362671C>A
NC_000007.13   g.46402269C>A|SEQ=[C/A]

rs148454792

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

NC_000011.10   g.30233737C>A
NC_000011.9   g.30255284C>A
NG_008144.1   g.7722C>A
NM_000510.3   c.327C>A
NM_000510.2   c.327C>A
NM_001018080.2   c.327C>A
NM_001018080.1   c.327C>A
NP_000501.1   p.Ser109Arg
NP_001018090.1   p.Ser109Arg|SEQ=[C/A]|GENE=FSHB
LOC105376  

rs6170

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

NC_000011.10   g.30231961G>T
NC_000011.9   g.30253508G>T
NG_008144.1   g.5946G>T
NM_000510.3   c.59G>T
NM_000510.2   c.59G>T
NM_001018080.2   c.59G>T
NM_001018080.1   c.59G>T
NP_000501.1   p.Ser20Ile
NP_001018090.1   p.Ser20Ile|SEQ=[G/T]|GENE=FSHB
LOC105376607   10

rs759981524

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

NC_000001.11   g.86579956A>C
NC_000001.11   g.86579956A>G
NC_000001.11   g.86579956A>T
NC_000001.10   g.87045639A>C
NC_000001.10   g.87045639A>G
NC_000001.10   g.87045639A>T
NM_012128.4   c.2371A>C
NM_012128.4   c.2371A>G
NM_012128.4   c.2371A>T
NM_012128.3   c.2371A>C
  

rs757773924

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

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

rs1042838

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

NC_000011.10   g.101062681C>A
NC_000011.10   g.101062681C>G
NC_000011.9   g.100933412C>A
NC_000011.9   g.100933412C>G
NG_016475.1   g.72133G>T
NG_016475.1   g.72133G>C
NM_000926.4   c.1978G>T
NM_000926.4   c.1978G>C
NM_001202474.3   c.1486G>T
NM_001202474.3   c.1486G>C
  

rs7110167

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

NC_000011.10   g.94587071T>C
NC_000011.9   g.94320237T>C
NM_152431.3   c.738T>C
NM_152431.2   c.738T>C|SEQ=[T/C]|GENE=PIWIL4
LOC105369438   105369438

rs57607909

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

NC_000011.10   g.94593599G>C
NC_000011.9   g.94326765G>C
NM_152431.3   c.1108G>C
NM_152431.2   c.1108G>C
NP_689644.2   p.Ala370Pro|SEQ=[G/C]|GENE=PIWIL4
LOC105369438   105369438

rs593690

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

NC_000011.10   g.94604054C>A
NC_000011.10   g.94604054C>T
NC_000011.9   g.94337220C>A
NC_000011.9   g.94337220C>T
NM_152431.3   c.1636C>A
NM_152431.3   c.1636C>T
NM_152431.2   c.1636C>A
NM_152431.2   c.1636C>T
NP_689644.2   p.Leu546Met|SEQ=[C/A/T]|GENE=PIWIL4
L  

rs2291102

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

NC_000010.11   g.3148507G>A
NC_000010.10   g.3190699G>A
NG_052908.1   g.29335C>T
NR_038284.1   n.3954G>A|SEQ=[G/A]|GENE=PITRM1
PITRM1-AS1   100507034

rs1399645

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

NC_000002.12   g.139390262C>G
NC_000002.12   g.139390262C>T
NC_000002.11   g.140147832C>G
NC_000002.11   g.140147832C>T|SEQ=[C/G/T]|GENE=LOC105373644

rs2063802

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

NC_000002.12   g.139384878G>A
NC_000002.12   g.139384878G>C
NC_000002.11   g.140142448G>A
NC_000002.11   g.140142448G>C|SEQ=[G/A/C]|GENE=LOC105373644

rs4541736

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

NC_000006.12   g.40722258C>A
NC_000006.12   g.40722258C>G
NC_000006.12   g.40722258C>T
NC_000006.11   g.40689997C>A
NC_000006.11   g.40689997C>G
NC_000006.11   g.40689997C>T|SEQ=[C/A/G/T]|GENE=LOC105375052

Protein Summary

• Protein general information: Q9NS39  
  • Name: Double stranded RNA specific editase B2 (EC 3.5. . ) (RNA dependent adenosine deaminase 3) (RNA editing deaminase 2) (RNA editing enzyme 2) (dsRNA adenosine deaminase B2)
  • Length: 739  
  • Mass: 80621
  • Tissue specificity: Brain specific. Expressed at higher levels in astrocytomas as compared to the normal brain tissue. {ECO
• Sequence:

  MASVLGSGRGSGGLSSQLKCKSKRRRRRRSKRKDKVSILSTFLAPFKHLSPGITNTEDDDTLSTSSAEVKENRNV
  GNLAARPPPSGDRARGGAPGAKRKRPLEEGNGGHLCKLQLVWKKLSWSVAPKNALVQLHELRPGLQYRTVSQTGP
  VHAPVFAVAVEVNGLTFEGTGPTKKKAKMRAAELALRSFVQFPNACQAHLAMGGGPGPGTDFTSDQADFPDTLFQ
  EFEPPAPRPGLAGGRPGDAALLSAAYGRRRLLCRALDLVGPTPATPAAPGERNPVVLLNRLRAGLRYVCLAEPAE
  RRARSFVMAVSVDGRTFEGSGRSKKLARGQAAQAALQELFDIQMPGHAPGRARRTPMPQEFADSISQLVTQKFRE
  VTTDLTPMHARHKALAGIVMTKGLDARQAQVVALSSGTKCISGEHLSDQGLVVNDCHAEVVARRAFLHFLYTQLE
  LHLSKRREDSERSIFVRLKEGGYRLRENILFHLYVSTSPCGDARLHSPYEITTDLHSSKHLVRKFRGHLRTKIES
  GEGTVPVRGPSAVQTWDGVLLGEQLITMSCTDKIARWNVLGLQGALLSHFVEPVYLQSIVVGSLHHTGHLARVMS
  HRMEGVGQLPASYRHNRPLLSGVSDAEARQPGKSPPFSMNWVVGSADLEIINATTGRRSCGGPSRLCKHVLSARW
  ARLYGRLSTRTPSPGDTPSMYCEAKLGAHTYQSVKQQLFKAFQKAGLGTWVRKPPEQQQFLLTL

• Structural information:
  • Protein Domains: (125..19-)
    (/note="DRBM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00266-)
    (274..34-)
    (/note="DRBM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00266-)
    (408..73-)
    I (/note="A-to)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU-)
  • Interpro: IPR002466  IPR014720  
  • Prosite: PS50141 PS50137
  • CDD: cd00048
  • STRING: ENSP00000370713
• Other Databases: GeneCards:  ADARB2  Malacards:  ADARB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008251	tRNA-specific adenosine deaminase activity	IBA	molecular function
GO:0006396	RNA processing	IBA	biological process
GO:0006382	adenosine to inosine editing	IBA	biological process
GO:0005730	nucleolus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003726	double-stranded RNA adenosine deaminase activity	IBA	molecular function
GO:0003725	double-stranded RNA binding	IBA	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:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003725	double-stranded RNA binding	TAS	molecular function
GO:0003727	single-stranded RNA binding	TAS	molecular function
GO:0004000	adenosine deaminase activity	TAS	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray