ADA2
entrez
51816
canonical
uniprot
Q9NZK5
canonical
ensembl
ENSG00000093072
resolver
ensp
ENSP00000332871
resolver
ensp
ENSP00000382731
resolver
ensp
ENSP00000382733
resolver
ensp
ENSP00000406443
resolver
ensp
ENSP00000442482
resolver
ensp
ENSP00000483418
resolver
ensp
ENSP00000497469
resolver
ensp
ENSP00000512492
resolver
enst
ENST00000449907
resolver
enst
ENST00000610390
resolver
enst
ENST00000649540
resolver
genesymbol
ADA2
resolver
genesymbol_syn
ADGF
resolver
genesymbol_syn
CECR1
resolver
genesymbol_syn
IDGFL
resolver
hgnc
HGNC:1839
resolver
uniprot
A0A087X0I3
resolver
uniprot
A0A3B3ISU8
resolver
uniprot
A8K9H4
resolver
uniprot
B4E3Q4
resolver
uniprot
Q6ICF1
resolver
uniprot
Q86UB6
resolver
uniprot
Q8NCJ2
resolver
uniprot
Q96K41
resolver
uniprot_entry
A0A087X0I3_HUMAN
resolver
uniprot_entry
A0A3B3ISU8_HUMAN
resolver
uniprot_entry
ADA2_HUMAN
resolver
uniprot_entry
B4E3Q4_HUMAN
resolver
uniprot_sec
A8K9H4
resolver
uniprot_sec
Q6ICF1
resolver
uniprot_sec
Q86UB6
resolver
uniprot_sec
Q8NCJ2
resolver
uniprot_sec
Q96K41
resolver
amino_acid_sequence
MLVDGPSERPALCFLLLAVAMSFFGSALSIDETRAHLLLKEKMMRLGGRLVLNTKEELANERLMTLKIAEMKEAMRTLIFPPSMHFFQAKHLIERSQVFNILRMMPKGAALHLHDIGIVTMDWLVRNVTYRPHCHICFTPRGIMQFRFAHPTPRPSEKCSKWILLEDYRKRVQNVTEFDDSLLRNFTLVTQHPEVIYTNQNVVWSKFETIFFTISGLIHYAPVFRDYVFRSMQEFYEDNVLYMEIRARLLPVYELSGEHHDEEWSVKTYQEVAQKFVETHPEFIGIKIIYSDHRSKDVAVIAESIRMAMGLRIKFPTVVAGFDLVGHEDTGHSLHDYKEALMIPAKDGVKLPYFFHAGETDWQGTSIDRNILDALMLNTTRIGHGFALSKHPAVRTYSWKKDIPIEVCPISNQVLKLVSDLRNHPVATLMATGHPMVISSDDPAMFGAKGLSYDFYEVFMGIGGMKADLRTLKQLAMNSIKYSTLLESEKNTFMEIWKKRWDKFIADVATK
uniprot
proteins
disease_involvement
DISEASE: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]: An autosomal recessive, systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly. {ECO:0000269|PubMed:24552284, ECO:0000269|PubMed:24552285}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Sneddon syndrome (SNDNS) [MIM:182410]: An autosomal recessive, systemic non-inflammatory thrombotic vasculopathy characterized by the association of livedo racemosa, and in some cases livedo reticularis, with cerebrovascular disease. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin affecting the legs, the arms, the buttocks and the trunk; livedo reticularis is limited to the extremities and is visible only in the cold. Cerebrovascular features include recurrent transient ischemic attacks, infarcts, and rarely spinal strokes or intracranial or subarachnoid hemorrhages. Headache and vertigo may precede the onset of livedo racemosa and cerebrovascular manifestations by several years. Rare neurologic symptoms include seizures, chorea, or myelopathies. {ECO:0000269|PubMed:25075847}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.5.4.4
uniprot
proteins
function
FUNCTION: Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity. {ECO:0000269|PubMed:20147294, ECO:0000269|PubMed:20453107}.
uniprot
proteins
mass_dalton
58934
uniprot
proteins
mutagenesis
MUTAGEN 137; /note="C->G: Abolishes secretion."; /evidence="ECO:0000269|PubMed:20147294"; MUTAGEN 362; /note="W->G: Reduces dimerization and enzyme activity."; /evidence="ECO:0000269|PubMed:20147294
uniprot
proteins
protein_family
ADGF subfamily
uniprot
proteins
protein_family
Adenosine and AMP deaminases family
uniprot
proteins
protein_family
Metallo-dependent hydrolases superfamily
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
10756095
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15926889
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
20147294
uniprot
proteins
pubmed
20453107
uniprot
proteins
pubmed
24552284
uniprot
proteins
pubmed
24552285
uniprot
proteins
pubmed
25075847
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
511
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15926889, ECO:0000269|PubMed:20147294, ECO:0000269|PubMed:20453107}.
uniprot
proteins