RAG2 (recombination activating 2)

Gene

• Entrez ID: 5897
• Gene name: Recombination activating 2
• Gene symbol: RAG2
• Synonyms: RAG-2
• Chromosome: 11
• Chromosome location: 11p12
• Summary: This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand b

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1288430	hsa-miR-142-5p	CLIP-seq
MIRT1288431	hsa-miR-154	CLIP-seq
MIRT1288432	hsa-miR-186	CLIP-seq
MIRT1288433	hsa-miR-299-3p	CLIP-seq
MIRT1288434	hsa-miR-3133	CLIP-seq
MIRT1288435	hsa-miR-3185	CLIP-seq
MIRT1288436	hsa-miR-340	CLIP-seq
MIRT1288437	hsa-miR-383	CLIP-seq
MIRT1288438	hsa-miR-410	CLIP-seq
MIRT1288439	hsa-miR-4276	CLIP-seq
MIRT1288440	hsa-miR-4648	CLIP-seq
MIRT1288441	hsa-miR-4654	CLIP-seq
MIRT1288442	hsa-miR-4769-5p	CLIP-seq
MIRT2085492	hsa-miR-1225-5p	CLIP-seq
MIRT2085493	hsa-miR-4314	CLIP-seq
MIRT2085494	hsa-miR-4455	CLIP-seq
MIRT2085495	hsa-miR-4477b	CLIP-seq
MIRT2085496	hsa-miR-496	CLIP-seq
MIRT2085497	hsa-miR-555	CLIP-seq
MIRT2085498	hsa-miR-609	CLIP-seq
MIRT1288436	hsa-miR-340	CLIP-seq
MIRT2607216	hsa-miR-513a-3p	CLIP-seq
MIRT2607216	hsa-miR-513a-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HMGA1	Unknown	15713121
LEF1	Unknown	12244173
MYB	Unknown	12044781
PAX5	Unknown	11094072;12044781

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002326	Process	B cell lineage commitment	IEA
GO:0002331	Process	Pre-B cell allelic exclusion	ISS
GO:0002358	Process	B cell homeostatic proliferation	IEA
GO:0002360	Process	T cell lineage commitment	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	ISS
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	ISS
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0008270	Function	Zinc ion binding	ISS
GO:0016567	Process	Protein ubiquitination	IEA
GO:0030183	Process	B cell differentiation	ISS
GO:0033077	Process	T cell differentiation in thymus	ISS
GO:0033151	Process	V(D)J recombination	IBA	21873635
GO:0033151	Process	V(D)J recombination	ISS
GO:0035064	Function	Methylated histone binding	ISS
GO:0035091	Function	Phosphatidylinositol binding	ISS
GO:0042742	Process	Defense response to bacterium	IEA
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	ISS
GO:0043565	Function	Sequence-specific DNA binding	IBA	21873635
GO:0046622	Process	Positive regulation of organ growth	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	ISS
GO:0097519	Component	DNA recombinase complex	IBA	21873635

Other IDs

• MIM: 179616
• HGNC: 9832
• e!Ensembl: ENSG00000175097

Protein

• UniProt ID: P55895
• Protein name: V(D)J recombination-activating protein 2 (RAG-2)
• Protein function: Core component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-lymph
• PDB: 8T4R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03089	RAG2	51 → 389	Recombination activating protein 2	Family
  PF13341	RAG2_PHD	414 → 491	RAG2 PHD domain	Domain

• Sequence:

  MSLQMVTVSNNIALIQPGFSLMNFDGQVFFFGQKGWPKRSCPTGVFHLDVKHNHVKLKPT
  IFSKDSCYLPPLRYPATCTFKGSLESEKHQYIIHGGKTPNNEVSDKIYVMSIVCKNNKKV
  TFRCTEKDLVGDVPEARYGHSINVVYSRGKSMGVLFGGRSYMPSTHRTTEKWNSVADCLP
  CVFLVDFEFGCATSYILPELQDGLSFHVSIAKNDTIYILGGHSLANNIRPANLYRIRVDL
  PLGSPAVNCTVLPGGISVSSAILTQTNNDEFVIVGGYQLENQKRMICNIISLEDNKIEIR
  EMETPDWTPDIKHSKIWFGSNMGNGTVFLGIPGDNKQVVSEGFYFYMLKCAEDDTNEEQT
  TFTNSQTSTEDPGDSTPFEDSEEFCFSAEANSFDGDDEFDTYNEDDEEDESETGYWITCC
  PTCDVDINTWVPFYSTELNKPAMIYCSHGDGHWVHAQCMDLAERTLIHLSAGSNKYYCNE
  HVEIARALHTPQRVLPLKKPPMKSLRKKGSGKILTPAKKSFLRRLFD

• Sequence length: 527

Pathways

KEGG:

FoxO signaling pathway
Primary immunodeficiency

Reactome:

MAPK6/MAPK4 signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	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
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Immunodeficiency	Primary immune deficiency disorder	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs193922740, rs193922741, rs104894199, rs483352927, rs104894286, rs1571865049, rs886041032, rs2069709, rs587776822, rs74315444, rs587776823, rs1315265916, rs104893893, rs104893894, rs121434560, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776857, rs104893974, rs121912715, rs1393707607, rs113994136, rs387906593, rs587776870, rs387906763, rs387906913, rs199469663, rs199469662, rs199469664, rs193922640, rs193922641, rs193922645, rs398122890, rs387907316, rs397514710, rs398122383, rs397515453, rs397514332, rs398123058, rs397518423, rs587777075, rs199676861, rs77563738, rs587777337, rs28730670, rs587777389, rs587777390, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs587778405, rs587777446, rs587777562, rs587777564, rs587777565, rs869320745, rs587777709, rs606231305, rs672601318, rs727503779, rs727503780, rs730880296, rs786200953, rs375323253, rs794729666, rs886041037, rs886041038, rs796051887, rs796051888, rs749956849, rs199641706, rs775739391, rs869312886, rs869312857, rs879253731, rs879253732, rs201025290, rs770927552, rs878853275, rs878853276, rs878853277, rs878853278, rs1567506566, rs886037920, rs886037921, rs750610248, rs200044623, rs886043118, rs886060531, rs1057519074, rs1057519075, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747, rs782178147, rs55729925, rs1064795762, rs1064794957, rs1085307649, rs745463649, rs773694113, rs1192554889, rs779575307, rs1554051075, rs1554051067, rs1554051033, rs1554067182, rs1555167566, rs1555169270, rs1555908409, rs1555719963, rs1554064929, rs768091235, rs1404084330, rs144104577, rs1553238837, rs1553243550, rs1554020278, rs1554066684, rs762678772, rs570768621, rs1443126481, rs1553721236, rs121434258, rs888230251, rs1759915032, rs1759514836, rs138156467, rs1560914625, rs755373718, rs1561423197, rs1560938296, rs200803157, rs766555082, rs201543770, rs114951157, rs775578531, rs201128237, rs778624945, rs1563340753, rs1561772403, rs1484948342, rs777878144, rs1562364898, rs1561254290, rs1569296295, rs1568815169, rs1568822574, rs1571880832, rs934523851, rs1922072844, rs1266114717, rs137869655, rs869320689, rs1571880941, rs1580875488, rs1581303476, rs1448018291, rs1390410878, rs774803573, rs1591278347, rs1602300615, rs1601340933, rs757598952, rs1181595292, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926, rs1601861196, rs1601861199, rs756541321, rs1594389703, rs1594390415, rs1581401865, rs1236009877, rs753213766, rs778993919, rs1602878106, rs141698985, rs1264504989, rs1580974401, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs1206185362, rs1581573705, rs1596718225, rs1004337827, rs1573613529, rs1574636674, rs1574657735, rs1574657762, rs1574672718, rs1581573640, rs1553657429, rs200666300, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1171694504, rs1578971328, rs140800288, rs374333820, rs1584926133, rs1585040113, rs1584409386, rs1379376784, rs1586940273, rs1587143342, rs748910652, rs1592117677, rs758555433, rs1596712783, rs34019455, rs147766868, rs751386365, rs1600631294, rs1489114116, rs1057520578, rs1603007888, rs1603008329, rs1574450161, rs1578735709, rs1403833564, rs1580262965, rs570910902, rs1589866171, rs1578999313, rs1582635229, rs1582637044, rs1580851910, rs1750760771, rs745453685, rs1249197356, rs201840561, rs1940921909, rs1941410085, rs1941465194, rs1321690789, rs1302362911, rs1730552437, rs2052705192, rs1941856970	15025726, 22841008, 12200379, 26457731, 21624848, 11313270, 18463379, 16960852, 19470080, 10891502, 11133745, 21131235, 23243423
Severe combined immunodeficiency disease	Severe Combined Immunodeficiency, Combined immunodeficiency, Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, Severe combined immunodeficiency due to complete RAG1/2 deficiency	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	18463379, 17572155, 20956421, 11213808, 27484032, 18768869, 25869295, 11971977, 11313270, 21624848, 8810255, 11133745, 18442948, 25707801, 23243423, 19458910, 15025726, 16960852, 18033247, 16111638, 24290284, 26692406, 17572155, 26186701, 18701881, 10891502

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia
Combined cellular and humoral immune defects with granulomas	Combined Cellular And Humoral Immune Defects With Granulomas, Combined immunodeficiency with granulomatosis		11313270, 10891502, 24290284, 18033247, 16960852, 26692406, 18463379, 19458910, 15025726, 18701881, 26186701, 11133745, 16111638, 25707801, 18442948, 17572155
Congenital hypoplasia of thymus	Congenital hypoplasia of thymus
Conjunctivitis	Conjunctivitis
Eosinophilia	Eosinophilia, Eosinophilia, Tropical		27315767
Exfoliative dermatitis	Exfoliative dermatitis
Hypoproteinemia	Hypoproteinemia
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Lymphadenitis	Lymphadenitis
Mastoiditis	Mastoiditis
Non-alcoholic fatty liver disease	Non-alcoholic Fatty Liver Disease, Nonalcoholic Steatohepatitis		24211274
Omenn syndrome	Omenn Syndrome		15025726, 11133745, 11313270, 23243423, 12200379, 9630231, 25707801, 19470080, 26457731, 22841008, 21131235, 16960852, 26186701, 10891502, 21624848
Otitis media	Otitis Media	rs601338, rs1047781, rs1800028
Reticuloendotheliosis with eosinophilia	Reticuloendotheliosis, familial, with eosinophilia
Thyroiditis	Thyroiditis