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A repository for genes associated with endometriosis

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Gene id 100
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol ADA   Gene   UCSC   Ensembl
Gene name adenosine deaminase
Alternate names adenosine deaminase, adenosine aminohydrolase,
Gene location 20q13.12 (80341114: 80335975)     Exons: 4     NC_000013.11
Gene summary(Entrez) This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]
OMIM 608958

SNPs

 rs10757269

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000671.2   g.22072265A>C
CM000671.2   g.22072265A>G
NC_000009.11   g.22072264A>G
NC_000009.12   g.22072265A>C
NC_000009.12   g.22072265A>G
NR_003529.3   n.2448+5912A>C
NR_003529.3   n.2448+5912A>G
NR_047532.1   n.1075+15878A>C
NR_047532.1   n.1075+15878A>G
NR_047533.1   n.645-5414A>C
NR_047533.1   n.645-5414A>G
NR_047534.1   n.644+23037A>C
NR_047534.1   n.644+23037A>G
NR_047535.1   n.780+15878A>C
NR_047535.1   n.780+15878A>G
NR_047536.1   n.644+23037A>C
NR_047536.1   n.644+23037A>G
NR_047537.1   n.780+15878A>C
NR_047537.1   n.780+15878A>G
NR_047538.1   n.644+23037A>C
NR_047538.1   n.644+23037A>G
NR_047539.1   n.2449-5414A>C
NR_047539.1   n.2449-5414A>G
NR_047540.1   n.1049-5414A>C
NR_047540.1   n.1049-5414A>G
NR_047541.1   n.856-5414A>C
NR_047541.1   n.856-5414A>G
NR_047542.1   n.781-5414A>C
NR_047542.1   n.781-5414A>G
NR_047543.1   n.780+15878A>C
NR_047543.1   n.780+15878A>G
NR_120536.1   n.644+23037A>C
NR_120536.1   n.644+23037A>G
rs10757272

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22088261C>T
NC_000009.11   g.22088260C>T
NC_000009.12   g.22088261C>T
NR_003529.3   n.2449-8111C>T
NR_047532.1   n.1076-4047C>T
NR_047534.1   n.645-8997C>T
NR_047535.1   n.781-24059C>T
NR_047536.1   n.645-24059C>T
NR_047537.1   n.780+31874C>T
NR_047538.1   n.645-31939C>T
NR_047543.1   n.781-24059C>T
NR_120536.1   n.645-32243C>T
rs10965215

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22029446G>A
NC_000009.11   g.22029445G>A
NC_000009.12   g.22029446G>A
NR_003529.3   n.385G>A
NR_047532.1   n.385G>A
NR_047533.1   n.372-17305G>A
NR_047534.1   n.372-17305G>A
NR_047535.1   n.372-17305G>A
NR_047536.1   n.372-17305G>A
NR_047537.1   n.372-17305G>A
NR_047538.1   n.372-17305G>A
NR_047539.1   n.385G>A
NR_047540.1   n.372-17305G>A
NR_047541.1   n.372-17305G>A
NR_047542.1   n.372-17305G>A
NR_047543.1   n.372-17305G>A
NR_120536.1   n.372-17305G>A
rs10965235

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000671.2   g.22115106C>A
NC_000009.11   g.22115105C>A
NC_000009.12   g.22115106C>A
NR_003529.3   n.2908+1307C>A
NR_047532.1   n.1697+1307C>A
NR_047534.1   n.961+1307C>A
NR_047535.1   n.856+2711C>A
NR_047536.1   n.720+2711C>A
NR_047537.1   n.781-5094C>A
NR_047538.1   n.645-5094C>A
NR_047543.1   n.990+1307C>A
NR_120536.1   n.645-5398C>A
rs1255998

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000676.2   g.64227153G>C
CM000676.2   g.64227153G>T
NC_000014.8   g.64693871G>C
NC_000014.9   g.64227153G>C
NC_000014.9   g.64227153G>T
NG_011535.1   g.116398C>A
NG_011535.1   g.116398C>G
NG_011756.1   g.379189G>C
NG_011756.1   g.379189G>T
NM_001040275.1   c.*380C>A
NM_001040275.1   c.*380C>G
NM_001214902.1   c.*737C>A
NM_001214902.1   c.*737C>G
NM_001291712.1   c.*380C>A
NM_001291712.1   c.*380C>G
NM_001291723.1   c.*380C>A
NM_001291723.1   c.*380C>G
NR_073496.1   n.2472C>A
NR_073496.1   n.2472C>G
NR_073505.1   n.2611C>G
XR_001750187.1   n.2304C>A
XR_001750187.1   n.2304C>G
rs1333042

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22103814A>G
NC_000009.11   g.22103813A>G
NC_000009.12   g.22103814A>G
NR_003529.3   n.2698+6450A>G
NR_047532.1   n.1487+6450A>G
NR_047534.1   n.751+6450A>G
NR_047535.1   n.781-8506A>G
NR_047536.1   n.645-8506A>G
NR_047537.1   n.781-16386A>G
NR_047538.1   n.645-16386A>G
NR_047543.1   n.781-8506A>G
NR_120536.1   n.645-16690A>G
rs1537370

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22084311C>T
NC_000009.11   g.22084310C>T
NC_000009.12   g.22084311C>T
NR_003529.3   n.2449-12061C>T
NR_047532.1   n.1076-7997C>T
NR_047534.1   n.645-12947C>T
NR_047535.1   n.780+27924C>T
NR_047536.1   n.645-28009C>T
NR_047537.1   n.780+27924C>T
NR_047538.1   n.644+35083C>T
NR_047543.1   n.780+27924C>T
NR_120536.1   n.644+35083C>T
rs17761446

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000671.2   g.22118103T>G
NC_000009.11   g.22118102T>G
NC_000009.12   g.22118103T>G
NR_003529.3   n.2909-541T>G
NR_047532.1   n.1698-541T>G
NR_047534.1   n.962-541T>G
NR_047535.1   n.857-541T>G
NR_047536.1   n.721-541T>G
NR_047537.1   n.781-2097T>G
NR_047538.1   n.645-2097T>G
NR_047543.1   n.991-541T>G
NR_120536.1   n.645-2401T>G
rs17834457

Strand:    Allele origin:   Allele change: C/G/T   Mutation type: snp

CM000671.2   g.22118027C>G
CM000671.2   g.22118027C>T
NC_000009.11   g.22118026C>T
NC_000009.12   g.22118027C>G
NC_000009.12   g.22118027C>T
NR_003529.3   n.2909-617C>G
NR_003529.3   n.2909-617C>T
NR_047532.1   n.1698-617C>G
NR_047532.1   n.1698-617C>T
NR_047534.1   n.962-617C>G
NR_047534.1   n.962-617C>T
NR_047535.1   n.857-617C>G
NR_047535.1   n.857-617C>T
NR_047536.1   n.721-617C>G
NR_047536.1   n.721-617C>T
NR_047537.1   n.781-2173C>G
NR_047537.1   n.781-2173C>T
NR_047538.1   n.645-2173C>G
NR_047538.1   n.645-2173C>T
NR_047543.1   n.991-617C>G
NR_047543.1   n.991-617C>T
NR_120536.1   n.645-2477C>G
NR_120536.1   n.645-2477C>T
rs1256049

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000014.9   g.64257333C>T
NC_000014.8   g.64724051C>T
NG_011535.1   g.86218G>A
NM_001040275.1   c.984G>A
NM_001214903.1   c.984G>A
NM_001214902.1   c.984G>A
NM_001271876.1   c.984G>A
NM_001271877.1   c.952+3116G>A
NM_001291712.1   c.984G>A
NM_001291723.1   c.984G>A
NM_001  
rs2157719

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22033367C>T
NC_000009.11   g.22033366C>T
NC_000009.12   g.22033367C>T
NR_003529.3   n.846+381C>T
NR_047532.1   n.533+3773C>T
NR_047533.1   n.372-13384C>T
NR_047534.1   n.372-13384C>T
NR_047535.1   n.372-13384C>T
NR_047536.1   n.372-13384C>T
NR_047537.1   n.372-13384C>T
NR_047538.1   n.372-13384C>T
NR_047539.1   n.846+381C>T
NR_047540.1   n.372-13384C>T
NR_047541.1   n.372-13384C>T
NR_047542.1   n.372-13384C>T
NR_047543.1   n.372-13384C>T
NR_120536.1   n.372-13384C>T
rs2383206

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22115027A>G
NC_000009.11   g.22115026A>G
NC_000009.12   g.22115027A>G
NR_003529.3   n.2908+1228A>G
NR_047532.1   n.1697+1228A>G
NR_047534.1   n.961+1228A>G
NR_047535.1   n.856+2632A>G
NR_047536.1   n.720+2632A>G
NR_047537.1   n.781-5173A>G
NR_047538.1   n.645-5173A>G
NR_047543.1   n.990+1228A>G
NR_120536.1   n.645-5477A>G
rs4957014

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000667.2   g.287899T>G
NC_000005.10   g.287899T>G
NC_000005.9   g.288014T>G
NM_001267556.1   c.163+15127T>G
NM_001267557.1   c.163+15127T>G
NM_001267558.1   c.-48+15127T>G
NM_001267559.1   c.163+15127T>G
NM_013232.3   c.163+15127T>G
rs4986938

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

NG_011535.1   g.110453G>A
NC_000014.9   g.64233098C>T
NC_000014.8   g.64699816C>T
NM_001040275.1   c.1406+1872G>A
NM_001214902.1   c.1406+1872G>A
NM_001271876.1   c.1406+1872G>A
NM_001271877.1   c.*39G>A
NM_001291723.1   c.1406+1872G>A
NM_001291712.1   c.1406+1872G>A
NM_00  
rs4977756

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22068653G>A
NC_000009.11   g.22068652G>A
NC_000009.12   g.22068653G>A
NR_003529.3   n.2448+2300G>A
NR_047532.1   n.1075+12266G>A
NR_047533.1   n.645-9026G>A
NR_047534.1   n.644+19425G>A
NR_047535.1   n.780+12266G>A
NR_047536.1   n.644+19425G>A
NR_047537.1   n.780+12266G>A
NR_047538.1   n.644+19425G>A
NR_047539.1   n.2448+2300G>A
NR_047540.1   n.1048+2300G>A
NR_047541.1   n.855+4635G>A
NR_047542.1   n.781-9026G>A
NR_047543.1   n.780+12266G>A
NR_120536.1   n.644+19425G>A
rs6475606

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22081851C>T
NC_000009.11   g.22081850C>T
NC_000009.12   g.22081851C>T
NR_003529.3   n.2449-14521C>T
NR_047532.1   n.1076-10457C>T
NR_047534.1   n.645-15407C>T
NR_047535.1   n.780+25464C>T
NR_047536.1   n.645-30469C>T
NR_047537.1   n.780+25464C>T
NR_047538.1   n.644+32623C>T
NR_047543.1   n.780+25464C>T
NR_120536.1   n.644+32623C>T
rs7865618

Strand:    Allele origin:   Allele change: A/G/T   Mutation type: snp

CM000671.2   g.22031006G>A
CM000671.2   g.22031006G>T
NC_000009.11   g.22031005G>A
NC_000009.12   g.22031006G>A
NC_000009.12   g.22031006G>T
NR_003529.3   n.533+1412G>A
NR_003529.3   n.533+1412G>T
NR_047532.1   n.533+1412G>A
NR_047532.1   n.533+1412G>T
NR_047533.1   n.372-15745G>A
NR_047533.1   n.372-15745G>T
NR_047534.1   n.372-15745G>A
NR_047534.1   n.372-15745G>T
NR_047535.1   n.372-15745G>A
NR_047535.1   n.372-15745G>T
NR_047536.1   n.372-15745G>A
NR_047536.1   n.372-15745G>T
NR_047537.1   n.372-15745G>A
NR_047537.1   n.372-15745G>T
NR_047538.1   n.372-15745G>A
NR_047538.1   n.372-15745G>T
NR_047539.1   n.533+1412G>A
NR_047539.1   n.533+1412G>T
NR_047540.1   n.372-15745G>A
NR_047540.1   n.372-15745G>T
NR_047541.1   n.372-15745G>A
NR_047541.1   n.372-15745G>T
NR_047542.1   n.372-15745G>A
NR_047542.1   n.372-15745G>T
NR_047543.1   n.372-15745G>A
NR_047543.1   n.372-15745G>T
NR_120536.1   n.372-15745G>A
NR_120536.1   n.372-15745G>T
rs944052

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000676.2   g.64339114G>A
NC_000014.8   g.64805832G>A
NC_000014.9   g.64339114G>A
NG_011535.1   g.4437C>T
NM_001291712.1   c.-2292C>T
NM_001291723.1   c.-1307C>T
NR_073496.1   n.-564C>T
NR_073505.1   n.-564C>T
rs944797

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22115287T>C
NC_000009.11   g.22115286T>C
NC_000009.11   g.22115286T>G
NC_000009.12   g.22115287T>C
NR_003529.3   n.2908+1488T>C
NR_003529.3   n.2908+1488T>G
NR_047532.1   n.1697+1488T>C
NR_047532.1   n.1697+1488T>G
NR_047534.1   n.961+1488T>C
NR_047534.1   n.961+1488T>G
NR_047535.1   n.856+2892T>C
NR_047535.1   n.856+2892T>G
NR_047536.1   n.720+2892T>C
NR_047536.1   n.720+2892T>G
NR_047537.1   n.781-4913T>C
NR_047537.1   n.781-4913T>G
NR_047538.1   n.645-4913T>C
NR_047538.1   n.645-4913T>G
NR_047543.1   n.990+1488T>C
NR_047543.1   n.990+1488T>G
NR_120536.1   n.645-5217T>C
NR_120536.1   n.645-5217T>G

Protein Summary
Protein general information P00813  

Name: Adenosine deaminase (EC 3.5.4.4) (Adenosine aminohydrolase)

Length: 363  Mass: 40,764

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

Pfam:  		 PF00962
CDD:   cd01320

PDB:  		 1M7M 3IAR
PDBsum:   1M7M 3IAR

DIP:  		 371
STRING:   ENSP00000361965;
Other Databases GeneCards:  ADA;  Malacards:  ADA

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001666 response to hypoxia
 IDA biological_process
GO:0001821 histamine secretion
 IEA biological_process
GO:0001829 trophectodermal cell diff
erentiation
 IEA biological_process
GO:0001883 purine nucleoside binding
 IEA molecular_function
GO:0001889 liver development
 IEA biological_process
GO:0001890 placenta development
 IEA biological_process
GO:0002314 germinal center B cell di
fferentiation
 IEA biological_process
GO:0002636 positive regulation of ge
rminal center formation
 IEA biological_process
GO:0002686 negative regulation of le
ukocyte migration
 IEA biological_process
GO:0002906 negative regulation of ma
ture B cell apoptotic pro
cess
 IEA biological_process
GO:0004000 adenosine deaminase activ
ity
 ISS molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0004000 adenosine deaminase activ
ity
 EXP molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005615 extracellular space
 IEA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005764 lysosome
 IDA cellular_component
GO:0005829 cytosol
 IBA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0006154 adenosine catabolic proce
ss
 ISS biological_process
GO:0006154 adenosine catabolic proce
ss
 IDA biological_process
GO:0006154 adenosine catabolic proce
ss
 IDA biological_process
GO:0006157 deoxyadenosine catabolic
process
 IEA biological_process
GO:0007568 aging
 IEA biological_process
GO:0008270 zinc ion binding
 ISS molecular_function
GO:0008270 zinc ion binding
 IMP molecular_function
GO:0009168 purine ribonucleoside mon
ophosphate biosynthetic p
rocess
 IEA biological_process
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009986 cell surface
 IDA cellular_component
GO:0009986 cell surface
 IDA cellular_component
GO:0010460 positive regulation of he
art rate
 IEA biological_process
GO:0016020 membrane
 IDA cellular_component
GO:0030054 cell junction
 IEA cellular_component
GO:0030890 positive regulation of B
cell proliferation
 IEA biological_process
GO:0032261 purine nucleotide salvage
 IMP biological_process
GO:0032839 dendrite cytoplasm
 IEA cellular_component
GO:0033089 positive regulation of T
cell differentiation in t
hymus
 IEA biological_process
GO:0033197 response to vitamin E
 IEA biological_process
GO:0033632 regulation of cell-cell a
dhesion mediated by integ
rin
 IDA biological_process
GO:0042110 T cell activation
 IDA biological_process
GO:0042323 negative regulation of ci
rcadian sleep/wake cycle,
non-REM sleep
 IEA biological_process
GO:0042493 response to drug
 IEA biological_process
GO:0042542 response to hydrogen pero
xide
 IEA biological_process
GO:0043025 neuronal cell body
 IEA cellular_component
GO:0043101 purine-containing compoun
d salvage
 TAS biological_process
GO:0043103 hypoxanthine salvage
 IBA biological_process
GO:0043278 response to morphine
 IEA biological_process
GO:0045987 positive regulation of sm
ooth muscle contraction
 IEA biological_process
GO:0046061 dATP catabolic process
 IEA biological_process
GO:0046103 inosine biosynthetic proc
ess
 ISS biological_process
GO:0046103 inosine biosynthetic proc
ess
 IDA biological_process
GO:0046111 xanthine biosynthetic pro
cess
 IEA biological_process
GO:0046638 positive regulation of al
pha-beta T cell different
iation
 IEA biological_process
GO:0048286 lung alveolus development
 IEA biological_process
GO:0048541 Peyer's patch development
 IEA biological_process
GO:0048566 embryonic digestive tract
development
 IEA biological_process
GO:0050728 negative regulation of in
flammatory response
 IEA biological_process
GO:0050850 positive regulation of ca
lcium-mediated signaling
 IEA biological_process
GO:0050862 positive regulation of T
cell receptor signaling p
athway
 IEA biological_process
GO:0060169 negative regulation of ad
enosine receptor signalin
g pathway
 IDA biological_process
GO:0060205 cytoplasmic vesicle lumen
 IEA cellular_component
GO:0060407 negative regulation of pe
nile erection
 IEA biological_process
GO:0070244 negative regulation of th
ymocyte apoptotic process
 IEA biological_process
GO:0070256 negative regulation of mu
cus secretion
 IEA biological_process
GO:0001666 response to hypoxia
 IEA biological_process
GO:0001666 response to hypoxia
 IDA biological_process
GO:0001701 in utero embryonic develo
pment
 IEA biological_process
GO:0001821 histamine secretion
 IEA biological_process
GO:0001829 trophectodermal cell diff
erentiation
 IEA biological_process
GO:0001883 purine nucleoside binding
 IEA molecular_function
GO:0001889 liver development
 IEA biological_process
GO:0001890 placenta development
 IEA biological_process
GO:0002314 germinal center B cell di
fferentiation
 IEA biological_process
GO:0002636 positive regulation of ge
rminal center formation
 IEA biological_process
GO:0002686 negative regulation of le
ukocyte migration
 IEA biological_process
GO:0002906 negative regulation of ma
ture B cell apoptotic pro
cess
 IEA biological_process
GO:0004000 adenosine deaminase activ
ity
 IEA molecular_function
GO:0004000 adenosine deaminase activ
ity
 IEA molecular_function
GO:0004000 adenosine deaminase activ
ity
 IEA molecular_function
GO:0004000 adenosine deaminase activ
ity
 ISS molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0004000 adenosine deaminase activ
ity
 EXP molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005615 extracellular space
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005764 lysosome
 IDA cellular_component
GO:0005829 cytosol
 IBA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0006154 adenosine catabolic proce
ss
 IEA biological_process
GO:0006154 adenosine catabolic proce
ss
 ISS biological_process
GO:0006154 adenosine catabolic proce
ss
 IDA biological_process
GO:0006154 adenosine catabolic proce
ss
 IDA biological_process
GO:0006157 deoxyadenosine catabolic
process
 IEA biological_process
GO:0007155 cell adhesion
 IEA biological_process
GO:0007568 aging
 IEA biological_process
GO:0008270 zinc ion binding
 IEA molecular_function
GO:0008270 zinc ion binding
 ISS molecular_function
GO:0008270 zinc ion binding
 IMP molecular_function
GO:0009117 nucleotide metabolic proc
ess
 IEA biological_process
GO:0009168 purine ribonucleoside mon
ophosphate biosynthetic p
rocess
 IEA biological_process
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009986 cell surface
 IDA cellular_component
GO:0009986 cell surface
 IDA cellular_component
GO:0010460 positive regulation of he
art rate
 IEA biological_process
GO:0016020 membrane
 IEA cellular_component
GO:0016020 membrane
 IDA cellular_component
GO:0016787 hydrolase activity
 IEA molecular_function
GO:0019239 deaminase activity
 IEA molecular_function
GO:0030054 cell junction
 IEA cellular_component
GO:0030054 cell junction
 IEA cellular_component
GO:0030324 lung development
 IEA biological_process
GO:0030890 positive regulation of B
cell proliferation
 IEA biological_process
GO:0031410 cytoplasmic vesicle
 IEA cellular_component
GO:0032261 purine nucleotide salvage
 IMP biological_process
GO:0032839 dendrite cytoplasm
 IEA cellular_component
GO:0033089 positive regulation of T
cell differentiation in t
hymus
 IEA biological_process
GO:0033197 response to vitamin E
 IEA biological_process
GO:0033632 regulation of cell-cell a
dhesion mediated by integ
rin
 IDA biological_process
GO:0042110 T cell activation
 IDA biological_process
GO:0042323 negative regulation of ci
rcadian sleep/wake cycle,
non-REM sleep
 IEA biological_process
GO:0042493 response to drug
 IEA biological_process
GO:0042542 response to hydrogen pero
xide
 IEA biological_process
GO:0043025 neuronal cell body
 IEA cellular_component
GO:0043066 negative regulation of ap
optotic process
 IEA biological_process
GO:0043101 purine-containing compoun
d salvage
 TAS biological_process
GO:0043103 hypoxanthine salvage
 IBA biological_process
GO:0043278 response to morphine
 IEA biological_process
GO:0045187 regulation of circadian s
leep/wake cycle, sleep
 IEA biological_process
GO:0045580 regulation of T cell diff
erentiation
 IEA biological_process
GO:0045582 positive regulation of T
cell differentiation
 IEA biological_process
GO:0045987 positive regulation of sm
ooth muscle contraction
 IEA biological_process
GO:0046061 dATP catabolic process
 IEA biological_process
GO:0046085 adenosine metabolic proce
ss
 IEA biological_process
GO:0046101 hypoxanthine biosynthetic
process
 IEA biological_process
GO:0046103 inosine biosynthetic proc
ess
 IEA biological_process
GO:0046103 inosine biosynthetic proc
ess
 ISS biological_process
GO:0046103 inosine biosynthetic proc
ess
 IDA biological_process
GO:0046111 xanthine biosynthetic pro
cess
 IEA biological_process
GO:0046638 positive regulation of al
pha-beta T cell different
iation
 IEA biological_process
GO:0046872 metal ion binding
 IEA molecular_function
GO:0048286 lung alveolus development
 IEA biological_process
GO:0048541 Peyer's patch development
 IEA biological_process
GO:0048566 embryonic digestive tract
development
 IEA biological_process
GO:0050728 negative regulation of in
flammatory response
 IEA biological_process
GO:0050850 positive regulation of ca
lcium-mediated signaling
 IEA biological_process
GO:0050862 positive regulation of T
cell receptor signaling p
athway
 IEA biological_process
GO:0050870 positive regulation of T
cell activation
 IEA biological_process
GO:0060169 negative regulation of ad
enosine receptor signalin
g pathway
 IDA biological_process
GO:0060205 cytoplasmic vesicle lumen
 IEA cellular_component
GO:0060407 negative regulation of pe
nile erection
 IEA biological_process
GO:0070244 negative regulation of th
ymocyte apoptotic process
 IEA biological_process
GO:0070256 negative regulation of mu
cus secretion
 IEA biological_process
GO:0001666 response to hypoxia
 IDA biological_process
GO:0004000 adenosine deaminase activ
ity
 ISS molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0004000 adenosine deaminase activ
ity
 EXP molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0004000 adenosine deaminase activ
ity
 IDA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005764 lysosome
 IDA cellular_component
GO:0005829 cytosol
 IBA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0006154 adenosine catabolic proce
ss
 ISS biological_process
GO:0006154 adenosine catabolic proce
ss
 IDA biological_process
GO:0006154 adenosine catabolic proce
ss
 IDA biological_process
GO:0008270 zinc ion binding
 ISS molecular_function
GO:0008270 zinc ion binding
 IMP molecular_function
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009986 cell surface
 IDA cellular_component
GO:0009986 cell surface
 IDA cellular_component
GO:0016020 membrane
 IDA cellular_component
GO:0032261 purine nucleotide salvage
 IMP biological_process
GO:0033632 regulation of cell-cell a
dhesion mediated by integ
rin
 IDA biological_process
GO:0042110 T cell activation
 IDA biological_process
GO:0043101 purine-containing compoun
d salvage
 TAS biological_process
GO:0043103 hypoxanthine salvage
 IBA biological_process
GO:0046103 inosine biosynthetic proc
ess
 ISS biological_process
GO:0046103 inosine biosynthetic proc
ess
 IDA biological_process
GO:0060169 negative regulation of ad
enosine receptor signalin
g pathway
 IDA biological_process

Diseases

Associated diseases References
Asthma PMID: 16224193
Atherosclerosis PMID: 17287605
Autism PMID: 11121182
Autism PMID: 11354825
Colorectal cancer PMID: 20615890
Coronary artery disease PMID: 19845893
Crohn's disease PMID: 15761857
Diabetes PMID: 1446805
Diabetes PMID: 621091
Endometriosis PMID: 26216523
Hypertension PMID: 15257174
Hypertension PMID: 12935677
Lymphopenia PMID: 14726805
Mental retardation PMID: 16970880
Metabolic syndrome PMID: 19470168
Psychiatric disorders PMID: 19086053
Rheumatoid arthritis PMID: 20943049
Endometriosis INFBASE26216523

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26216523 Endometrio
sis
380 (130 women
hospitalized fo
r endometriosis
, 250 women wit
hout endometrio
sis)
 ACP1
ADA
PTPN22
 Show abstract