• Gene id: 100

Gene Summary

• Gene Symbol: ADA   Gene   UCSC   Ensembl
• Gene name: adenosine deaminase
• Alternate names: adenosine deaminase, adenosine aminohydrolase,
• Gene location: 20q13.12 (44651757: 44619518)     Exons: 12     NC_000020.11
• Gene summary(Entrez): This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as sever
• OMIM: 608958

SNPs

rs11754464

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

NC_000006.12   g.31755958C>T
NC_000006.11   g.31723735C>T
NG_011611.1   g.20962C>T
NT_113891.3   g.3233215C>T
NT_113891.2   g.3233321C>T
NT_167245.2   g.3003732C>T
NT_167245.1   g.3009317C>T
NT_167247.2   g.3097847C>T
NT_167247.1   g.3103432C>T
NT_167248.2   g.3011780C>

rs6563386

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

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs3741843

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

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

rs2231829

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

NC_000020.11   g.45547937G>A
NC_000020.10   g.44176576G>A|SEQ=[G/A]|GENE=EPPIN
EPPIN-WFDC6   100526773

rs1328626

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

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs1256049

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

NC_000014.9   g.64257333C>T
NC_000014.8   g.64724051C>T
NG_011535.1   g.86218G>A
NM_001291712.2   c.984G>A
NM_001291712.1   c.984G>A
NM_001437.2   c.984G>A
NM_001291723.1   c.984G>A
NM_001040275.1   c.984G>A
NM_001214902.1   c.984G>A
NM_001271876.1   c.984G>A
NR_073497.  

rs11594

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

NC_000020.11   g.45542073C>A
NC_000020.11   g.45542073C>G
NC_000020.11   g.45542073C>T
NC_000020.10   g.44170712C>A
NC_000020.10   g.44170712C>G
NC_000020.10   g.44170712C>T
NM_020398.3   c.*71G>T
NM_020398.3   c.*71G>C
NM_020398.3   c.*71G>A
NM_020398.4   c.*71G>T
NM_0  

rs2987983

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

NC_000014.9   g.64296935A>G
NC_000014.8   g.64763653A>G
NG_011535.1   g.46616T>C|SEQ=[A/G]|GENE=ESR2

rs1256030

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

NC_000014.9   g.64280452A>G
NC_000014.9   g.64280452A>T
NC_000014.8   g.64747170A>G
NC_000014.8   g.64747170A>T
NG_011535.1   g.63099T>C
NG_011535.1   g.63099T>A|SEQ=[A/G/T]|GENE=ESR2

rs4680

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

NC_000022.11   g.19963748G>A
NC_000022.10   g.19951271G>A
NG_011526.1   g.27009G>A
NM_000754.4   c.472G>A
NM_000754.3   c.472G>A
NM_007310.3   c.322G>A
NM_007310.2   c.322G>A
NM_001362828.2   c.472G>A
NM_001362828.1   c.472G>A
NM_001135161.2   c.472G>A
NM_001135161.1   c.

rs6080550

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

NC_000020.11   g.1778944C>G
NC_000020.11   g.1778944C>T
NC_000020.10   g.1759590C>G
NC_000020.10   g.1759590C>T|SEQ=[C/G/T]|GENE=LOC100289473

rs3779456

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

NC_000007.14   g.27174938T>C
NC_000007.13   g.27214557T>C|SEQ=[T/C]|GENE=HOXA10
HOXA10-HOXA9   100534589

rs4986938

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

NC_000014.9   g.64233098C>T
NC_000014.8   g.64699816C>T
NG_011535.1   g.110453G>A
NM_001437.2   c.*39G>A
NR_073497.1   n.1600G>A
NM_001271877.1   c.*39G>A
XM_017021080.1   c.*39G>A
XM_017021079.1   c.*39G>A
XM_017021081.1   c.*39G>A
XM_017021082.1   c.*39G>A
XM_01702108  

rs1799964

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

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

rs1256063

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

NC_000014.9   g.64235499A>G
NC_000014.9   g.64235499A>T
NC_000014.8   g.64702217A>G
NC_000014.8   g.64702217A>T
NG_011535.1   g.108052T>C
NG_011535.1   g.108052T>A|SEQ=[A/G/T]|GENE=ESR2

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

rs944050

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

NC_000014.9   g.64233327T>C
NC_000014.8   g.64700045T>C
NG_011535.1   g.110224A>G|SEQ=[T/C]|GENE=ESR2

rs2976084

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

NC_000003.12   g.75456899G>A
NC_000003.12   g.75456899G>T
NC_000003.11   g.75506050G>A
NC_000003.11   g.75506050G>T
NG_025593.1   g.34405C>T
NG_025593.1   g.34405C>A
NR_151706.1   n.721G>A
NR_151706.1   n.721G>T|SEQ=[G/A/T]|GENE=LINC02018

Protein Summary

• Protein general information: P00813  
  • Name: Adenosine deaminase (EC 3.5.4.4) (Adenosine aminohydrolase)
  • Length: 363  
  • Mass: 40764
  • Tissue specificity: Found in all tissues, occurs in large amounts in T-lymphocytes (PubMed
• Sequence:

  MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGC
  REAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARS
  ILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVK
  EAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIF
  KSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL

• Structural information:
  • Interpro: IPR006650  IPR001365  IPR028893  IPR006330  IPR032466  
  • Prosite: PS00485
  • CDD: cd01320
  • PDB: 1M7M 3IAR
  • PDBsum: 1M7M 3IAR
  • DIP: 371
  • STRING: ENSP00000361965
• Other Databases: GeneCards:  ADA  Malacards:  ADA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004000	adenosine deaminase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0042110	T cell activation	IBA	biological process
GO:0043103	hypoxanthine salvage	IBA	biological process
GO:0060169	negative regulation of adenosine receptor signaling pathway	IBA	biological process
GO:0006154	adenosine catabolic process	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0046103	inosine biosynthetic process	IBA	biological process
GO:0008270	zinc ion binding	ISS	molecular function
GO:0004000	adenosine deaminase activity	ISS	molecular function
GO:0046103	inosine biosynthetic process	ISS	biological process
GO:0006154	adenosine catabolic process	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004000	adenosine deaminase activity	IEA	molecular function
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0019239	deaminase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0009117	nucleotide metabolic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0004000	adenosine deaminase activity	IEA	molecular function
GO:0004000	adenosine deaminase activity	IDA	molecular function
GO:0046103	inosine biosynthetic process	IDA	biological process
GO:0006154	adenosine catabolic process	IDA	biological process
GO:0004000	adenosine deaminase activity	EXP	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0043101	purine-containing compound salvage	TAS	biological process
GO:0045187	regulation of circadian sleep/wake cycle, sleep	IEA	biological process
GO:0043278	response to morphine	IEA	biological process
GO:0033197	response to vitamin E	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0004000	adenosine deaminase activity	IEA	molecular function
GO:0001883	purine nucleoside binding	IEA	molecular function
GO:0001666	response to hypoxia	IEA	biological process
GO:0070256	negative regulation of mucus secretion	IEA	biological process
GO:0050862	positive regulation of T cell receptor signaling pathway	IEA	biological process
GO:0050850	positive regulation of calcium-mediated signaling	IEA	biological process
GO:0048541	Peyer's patch development	IEA	biological process
GO:0046638	positive regulation of alpha-beta T cell differentiation	IEA	biological process
GO:0046111	xanthine biosynthetic process	IEA	biological process
GO:0046101	hypoxanthine biosynthetic process	IEA	biological process
GO:0045987	positive regulation of smooth muscle contraction	IEA	biological process
GO:0045582	positive regulation of T cell differentiation	IEA	biological process
GO:0045580	regulation of T cell differentiation	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0033089	positive regulation of T cell differentiation in thymus	IEA	biological process
GO:0010460	positive regulation of heart rate	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0006157	deoxyadenosine catabolic process	IEA	biological process
GO:0004000	adenosine deaminase activity	IEA	molecular function
GO:0002686	negative regulation of leukocyte migration	IEA	biological process
GO:0002636	positive regulation of germinal center formation	IEA	biological process
GO:0001890	placenta development	IEA	biological process
GO:0046085	adenosine metabolic process	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042542	response to hydrogen peroxide	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042323	negative regulation of circadian sleep/wake cycle, non-REM sleep	IEA	biological process
GO:0032839	dendrite cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001821	histamine secretion	IEA	biological process
GO:0070244	negative regulation of thymocyte apoptotic process	IEA	biological process
GO:0060407	negative regulation of penile erection	IEA	biological process
GO:0050870	positive regulation of T cell activation	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0048566	embryonic digestive tract development	IEA	biological process
GO:0048286	lung alveolus development	IEA	biological process
GO:0046103	inosine biosynthetic process	IEA	biological process
GO:0046061	dATP catabolic process	IEA	biological process
GO:0030890	positive regulation of B cell proliferation	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0006154	adenosine catabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0002906	negative regulation of mature B cell apoptotic process	IEA	biological process
GO:0002314	germinal center B cell differentiation	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0001829	trophectodermal cell differentiation	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0060205	cytoplasmic vesicle lumen	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0033632	regulation of cell-cell adhesion mediated by integrin	IDA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0004000	adenosine deaminase activity	IDA	molecular function
GO:0004000	adenosine deaminase activity	IDA	molecular function
GO:0004000	adenosine deaminase activity	IDA	molecular function
GO:0004000	adenosine deaminase activity	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0006154	adenosine catabolic process	IDA	biological process
GO:0060169	negative regulation of adenosine receptor signaling pathway	IDA	biological process
GO:0042110	T cell activation	IDA	biological process
GO:0004000	adenosine deaminase activity	IDA	molecular function
GO:0001666	response to hypoxia	IDA	biological process
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0032261	purine nucleotide salvage	IMP	biological process
GO:0008270	zinc ion binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa05340	Primary immunodeficiency

Diseases

Associated diseases	References
T-B-Severe combined immunodeficiency	KEGG:H00092
Adenosine deaminase deficiency	KEGG:H02309
T-B-Severe combined immunodeficiency	KEGG:H00092
Adenosine deaminase deficiency	KEGG:H02309
Legionnaires' disease	PMID:9255891
pulmonary sarcoidosis	PMID:10410539
Asthma	PMID:16754522
severe combined immunodeficiency	PMID:8227344
type 2 diabetes mellitus	PMID:15168879
obesity	PMID:16501670
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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