ADA2 (adenosine deaminase 2)

Gene

• Entrez ID: 51816
• Gene name: Adenosine deaminase 2
• Gene symbol: ADA2
• Synonyms: ADGF, CECR1, IDGFL, PAN, SNEDS, VAIHS
• Chromosome: 22
• Chromosome location: 22q11.1
• Summary: This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from m

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74317375	C>T	Likely-benign, pathogenic, benign-likely-benign	Coding sequence variant, missense variant
rs77563738	C>G,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs139750129	T>C	Pathogenic	Splice acceptor variant
rs146597836	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs148936893	G>A	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs199614299	G>A	Uncertain-significance, pathogenic	Intron variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs200930463	C>A,G	Pathogenic	Intron variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs202134424	C>A,G,T	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic	Intron variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs376785840	T>C	Pathogenic	Missense variant, coding sequence variant
rs587777240	G>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs587777241	G>C	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs587777242	C>G	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs747774101	T>C	Pathogenic	Coding sequence variant, missense variant
rs750868279	G>A	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs756881285	C>-,CC	Pathogenic, likely-pathogenic	Intron variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs766602945	GCGT>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs770689762	C>T	Pathogenic	Missense variant, coding sequence variant
rs774963498	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs775440641	T>C	Pathogenic	Missense variant, coding sequence variant
rs1226708979	G>A,C	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs1489114116	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1568966771	C>T	Pathogenic	Coding sequence variant, stop gained
rs1568968051	T>-	Pathogenic	Intron variant
rs1601419986	TGTAC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT497202	hsa-miR-3622a-5p	PAR-CLIP	22291592
MIRT454002	hsa-miR-302c-3p	PAR-CLIP	23592263
MIRT454001	hsa-miR-520f-3p	PAR-CLIP	23592263
MIRT454000	hsa-miR-1825	PAR-CLIP	23592263
MIRT453999	hsa-miR-6089	PAR-CLIP	23592263
MIRT453998	hsa-miR-6087	PAR-CLIP	23592263
MIRT453996	hsa-miR-3656	PAR-CLIP	23592263
MIRT453997	hsa-miR-1251-3p	PAR-CLIP	23592263
MIRT453995	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT453994	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT453993	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT453992	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT453991	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT453990	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT453989	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT453988	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT453986	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT453987	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT453985	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT453984	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT453983	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT453982	hsa-miR-3689c	PAR-CLIP	23592263
MIRT453981	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT453980	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT453979	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT453978	hsa-miR-3122	PAR-CLIP	23592263
MIRT453977	hsa-miR-3913-5p	PAR-CLIP	23592263
MIRT453976	hsa-miR-887-5p	PAR-CLIP	23592263
MIRT453975	hsa-miR-6513-5p	PAR-CLIP	23592263

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004000	Function	Adenosine deaminase activity	IBA	21873635
GO:0004000	Function	Adenosine deaminase activity	IDA	20147294
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	20147294
GO:0006154	Process	Adenosine catabolic process	IBA	21873635
GO:0006154	Process	Adenosine catabolic process	IDA	20147294
GO:0007165	Process	Signal transduction	IEA
GO:0007275	Process	Multicellular organism development	NAS	10756095
GO:0008083	Function	Growth factor activity	NAS	10756095
GO:0008201	Function	Heparin binding	IEA
GO:0008270	Function	Zinc ion binding	IDA	20147294
GO:0031685	Function	Adenosine receptor binding	IDA	20147294
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042803	Function	Protein homodimerization activity	IPI	20147294
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0043394	Function	Proteoglycan binding	IDA	20147294
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0046103	Process	Inosine biosynthetic process	IBA	21873635

Other IDs

• MIM: 607575
• HGNC: 1839
• e!Ensembl: ENSG00000093072

Protein

• UniProt ID: Q9NZK5
• Protein name: Adenosine deaminase 2 (EC 3.5.4.4) (Cat eye syndrome critical region protein 1)
• Protein 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
• PDB: 3LGD, 3LGG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08451	A_deaminase_N	12 → 102	Adenosine/AMP deaminase N-terminal	Family
  PF00962	A_deaminase	174 → 496	Adenosine/AMP deaminase	Domain

• Sequence:

  MLVDGPSERPALCFLLLAVAMSFFGSALSIDETRAHLLLKEKMMRLGGRLVLNTKEELAN
  ERLMTLKIAEMKEAMRTLIFPPSMHFFQAKHLIERSQVFNILRMMPKGAALHLHDIGIVT
  MDWLVRNVTYRPHCHICFTPRGIMQFRFAHPTPRPSEKCSKWILLEDYRKRVQNVTEFDD
  SLLRNFTLVTQHPEVIYTNQNVVWSKFETIFFTISGLIHYAPVFRDYVFRSMQEFYEDNV
  LYMEIRARLLPVYELSGEHHDEEWSVKTYQEVAQKFVETHPEFIGIKIIYSDHRSKDVAV
  IAESIRMAMGLRIKFPTVVAGFDLVGHEDTGHSLHDYKEALMIPAKDGVKLPYFFHAGET
  DWQGTSIDRNILDALMLNTTRIGHGFALSKHPAVRTYSWKKDIPIEVCPISNQVLKLVSD
  LRNHPVATLMATGHPMVISSDDPAMFGAKGLSYDFYEVFMGIGGMKADLRTLKQLAMNSI
  KYSTLLESEKNTFMEIWKKRWDKFIADVATK

• Sequence length: 511

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Nucleotide metabolism

Reactome:

Surfactant metabolism
Neutrophil degranulation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia, Macrocytic, Anemia, Diamond-Blackfan	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	24552284, 30503522
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autoinflammatory disease	Autoinflammatory disorder	rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924	29564582
Behcet syndrome	Behcet Syndrome	rs886040969, rs886039866, rs746055479, rs752615209, rs774164456, rs751454741
Developmental regression	Developmental regression	rs1224421127
Diamond-blackfan anemia	Diamond-Blackfan Anemia 1	rs121434389, rs1570566590, rs151155897, rs143951267, rs267607023, rs786200892, rs148622862, rs397507554, rs121434405, rs1571026775, rs142156224, rs267607021, rs1581931541, rs267607022, rs61762293, rs104894711, rs104894716, rs121908649, rs786200935, rs786200936, rs104894188, rs104894189, rs116840806, rs116840811, rs116840812, rs116840808, rs116840809, rs397518451, rs6991, rs587777117, rs587777118, rs587777119, rs587777120, rs587777568, rs587777569, rs148942765, rs786203998, rs797045919, rs878854146, rs886039545, rs1057519624, rs144337183, rs138938035, rs1057520746, rs1060503527, rs1060503688, rs1085307115, rs1085307119, rs1064794604, rs1555841379, rs1553121909, rs1555208596, rs1555841301, rs1555841356, rs1553121678, rs1553121795, rs1553121684, rs1553811551, rs1554841994, rs1555524370, rs1555524354, rs1558283792, rs1558283853, rs1558284033, rs1558284062, rs1560120302, rs869066130, rs1568796003, rs1567287990, rs1568425218, rs1564307664, rs1570566592, rs148673599, rs1571024385, rs1571024430, rs1581931439, rs1589326484, rs1570569383, rs146366047, rs111833764, rs1571032029, rs1572360944, rs1581106084, rs138979590, rs1644516691, rs1686990557, rs1686990676, rs149420497, rs1765648528, rs113752862, rs1704930969, rs1553284997	30503522
Hypertension	Hypertensive disease	rs13306026, rs13333226
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Leukemia	Acute leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601
Migraine	Migraine Disorders	rs794727411
Severe combined immunodeficiency disease	Combined immunodeficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	29564582
Sneddon syndrome	Sneddon Syndrome	rs77563738, rs202134424, rs775440641, rs770689762, rs139750129	25075847, 25551694, 3471198
Vasculitis	Vasculitis, Vasculitis due to ADA2 deficiency	rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054

Unknown
Disease name	Disease term	dbSNP ID	References
Aase-smith syndrome	Aase Smith syndrome 2		30503522
Aphasia	Aphasia
Blackfan-diamond anemia	Blackfan-Diamond anemia
Cutis marmorata	Cutis marmorata
Dementia	Dementia
Dwarfism	Dwarfism
Dysarthria	Dysarthria
Erythema nodosum	Erythema Nodosum
Evans syndrome	Evans syndrome		29564582
Facial paralysis	Facial paralysis
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Leukopenia	Leukopenia
Motor delay	Clumsiness - motor delay
Nervous system diseases	Peripheral Nervous System Diseases
Panniculitis	Panniculitis
Polyarteritis nodosa	Polyarteritis Nodosa, POLYARTERITIS NODOSA, CHILDHOOD-ONSET		24552284, 29564582, 3471198, 24552284, 24552285, 27252897, 25888558, 28983775, 28493328, 27059682, 26867732, 29564582, 28522451, 29951947
Raynaud phenomenon	Raynaud Phenomenon
Stroke	Cerebrovascular accident
Thrombocytosis	Thrombocytosis
Thromboembolic stroke	Thromboembolic stroke