RASA2 (RAS p21 protein activator 2)

Gene

• Entrez ID: 5922
• Gene name: RAS p21 protein activator 2
• Gene symbol: RASA2
• Synonyms (NCBI Gene): GAP1M
• Chromosome: 3
• Chromosome location: 3q23
• Summary: The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018937	hsa-miR-335-5p	Microarray	18185580
MIRT447367	hsa-miR-548l	PAR-CLIP	22100165
MIRT447365	hsa-miR-3973	PAR-CLIP	22100165
MIRT447366	hsa-miR-4635	PAR-CLIP	22100165
MIRT447364	hsa-miR-4470	PAR-CLIP	22100165
MIRT447363	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT447362	hsa-miR-182-5p	PAR-CLIP	22100165
MIRT736525	hsa-miR-31-3p	Microarray, qRT-PCR	32925730
MIRT447367	hsa-miR-548l	PAR-CLIP	22100165
MIRT447365	hsa-miR-3973	PAR-CLIP	22100165
MIRT447366	hsa-miR-4635	PAR-CLIP	22100165
MIRT447364	hsa-miR-4470	PAR-CLIP	22100165
MIRT447363	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT447362	hsa-miR-182-5p	PAR-CLIP	22100165
MIRT2086816	hsa-miR-145	CLIP-seq
MIRT2086817	hsa-miR-3180-5p	CLIP-seq
MIRT2086818	hsa-miR-3182	CLIP-seq
MIRT2086819	hsa-miR-4277	CLIP-seq
MIRT2086820	hsa-miR-4539	CLIP-seq
MIRT2086821	hsa-miR-4659a-3p	CLIP-seq
MIRT2086822	hsa-miR-4659b-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0005096	Function	GTPase activator activity	IEA
GO:0005543	Function	Phospholipid binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007165	Process	Signal transduction	TAS	8699317, 8812506
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

Other IDs

• MIM: 601589
• HGNC: 9872
• e!Ensembl: ENSG00000155903

Protein

• UniProt ID: Q15283
• Protein name: Ras GTPase-activating protein 2 (GTPase-activating protein 1m) (GAP1m)
• Protein function: Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00168	C2	38 → 140	C2 domain	Domain
  PF00168	C2	171 → 291	C2 domain	Domain
  PF00616	RasGAP	377 → 454	GTPase-activator protein for Ras-like GTPase	Family
  PF00616	RasGAP	444 → 550	GTPase-activator protein for Ras-like GTPase	Family
  PF00169	PH	605 → 706	PH domain	Domain
  PF00779	BTK	714 → 743	BTK motif	Motif

• Sequence:

  MAAAAPAAAAASSEAPAASATAEPEAGDQDSREVRVLQSLRGKICEAKNLLPYLGPHKMR
  DCFCTINLDQEEVYRTQVVEKSLSPFFSEEFYFEIPRTFQYLSFYVYDKNVLQRDLRIGK
  VAIKKEDLCNHSGKETWFSLQPVDSNSEVQGKVHLELKLNELITENGTVCQQLVVHIKAC
  HGLPLINGQSCDPYATVSLVGPSRNDQKKTKVKKKTSNPQFNEIFYFEVTRSSSYTRKSQ
  FQVEEEDIEKLEIRIDLWNNGNLVQDVFLGEIKVPVNVLRTDSSHQAWYLLQPRDNGNKS
  SKTDDLGSLRLNICYTEDYVLPSEYYGPLKTLLLKSPDVQPISASAAYILSEICRDKNDA
  VLPLVRLLLHHDKLVPFATAVAELDLKDTQDANTIFRGNSLATRCLDEMMKIVGGHYLKV
  TLKPILDEICDSSKSCEIDPIKLKEGDNVENNKENLRYYVDKLFNTIVKSSMSCPTVMCD
  IFYSLRQMATQRFPNDPHVQYSAVSSFVFLRFFAVAVVSPHTFHLRPHHPDAQTIRTLTL
  ISKTIQTLGSWGSLSKSKSSFKETFMCEFFKMFQEEGYIIAVKKFLDEISSTETKESSGT
  SEPVHLKEGEMYKRAQGRTRIGKKNFKKRWFCLTSRELTYHKQPGSKDAIYTIPVKNILA
  VEKLEESSFNKKNMFQVIHTEKPLYVQANNCVEANEWIDVLCRVSRCNQNRLSFYHPSVY
  LNGNWLCCQETGENTLGCKPCTAGVPADIQIDIDEDRETERIYSLFTLSLLKLQKMEEAC
  GTIAVYQGPQKEPDDYSNFVIEDSVTTFKTIQQIKSIIEKLDEPHEKYRKKRSSSAKYGS
  KENPIVGKAS

• Sequence length: 850

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway
Viral carcinogenesis

Reactome:

Regulation of RAS by GAPs

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683
Cardiofaciocutaneous syndrome	Cardio-facio-cutaneous syndrome	rs121434497, rs121434498, rs121434499, rs267607230, rs121913530, rs104894359, rs104894360, rs104894366, rs104894361, rs104894362, rs121908594, rs121908595, rs121908596, rs121913348, rs180177034, rs121913357, rs180177035, rs121913355, rs180177036, rs180177039, rs180177040, rs180177041, rs387906660, rs387906661, rs387906800, rs387907205, rs387907206, rs397507465, rs397507466, rs397507473, rs397507474, rs397507475, rs397507476, rs397507479, rs397507480, rs397507483, rs113488022, rs397507484, rs397516792, rs397516793, rs730880517, rs397516790, rs727504317, rs727504382, rs397516791, rs397516892, rs397516893, rs180177038, rs397516894, rs397516895, rs397516904, rs121913341, rs180177042, rs727504370, rs797044593, rs794729219, rs869025339, rs869025606, rs869025608, rs876657651, rs886041310, rs727504819, rs121913349, rs121913337, rs121913338, rs1057519732, rs1057519733, rs1057519805, rs1057519806, rs1135401787, rs1586126581, rs1586140436, rs1586140512, rs1595860875, rs1599307313, rs2041142587
Costello syndrome	Costello syndrome (disorder)	rs104894230, rs104894229, rs104894226, rs104894227, rs104894228, rs104894231, rs121917756, rs121917757, rs121917758, rs121917759, rs398122808, rs398122809, rs727503093, rs730880460, rs587777239, rs727504747, rs727503094, rs1554884966, rs1589792804
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Leopard syndrome	LEOPARD Syndrome	rs28933386, rs121918455, rs121918456, rs121918461, rs121918457, rs121918462, rs121918463, rs121918468, rs121918469, rs121918470, rs267606990, rs80338796, rs80338797, rs180177035, rs387906661, rs397507466, rs397507505, rs397507510, rs397507519, rs376607329, rs397507527, rs397507531, rs397507540, rs397507541, rs397507542, rs397507546, rs397507548, rs397507549, rs397507550, rs397516813, rs397516801, rs397516827, rs727503380, rs1575573330
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	26502337, 26214590
Noonan syndrome	Noonan Syndrome, Noonan syndrome	rs121434312, rs267607048, rs121434499, rs113954997, rs104894359, rs104894360, rs104894364, rs104894365, rs104894366, rs104894367, rs193929331, rs28933406, rs104894230, rs104894226, rs104894228, rs137852812, rs137852813, rs137852814, rs267607079, rs267607080, rs121918453, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918458, rs121918459, rs121918462, rs121918463, rs121918465, rs121918466, rs121918468, rs121918469, rs121918470, rs80338836, rs267606990, rs121908595, rs267606704, rs121434595, rs11554290, rs121434596, rs267606921, rs267606920, rs80338796, rs121434594, rs80338799, rs80338797, rs180177034, rs121913369, rs180177035, rs121913355, rs180177037, rs180177040, rs387906660, rs606231228, rs397514553, rs121913237, rs397507466, rs397507467, rs121913348, rs397507473, rs397507475, rs180177039, rs397507477, rs397507480, rs121913375, rs397507484, rs727503110, rs730880471, rs121913250, rs397507501, rs397507503, rs397507504, rs397507505, rs397507506, rs397507507, rs397507509, rs397507510, rs397507511, rs397507512, rs397507513, rs397507514, rs397507517, rs397507518, rs397507519, rs397507520, rs397507523, rs397507524, rs397507525, rs397507526, rs376607329, rs397507527, rs397507529, rs397507530, rs397507531, rs397507537, rs397507539, rs397507540, rs397507541, rs397507543, rs397507544, rs397507545, rs397507546, rs397507547, rs397507548, rs397507549, rs397507550, rs397516826, rs727505017, rs3730271, rs397516827, rs397516828, rs397516830, rs397516813, rs730881002, rs730881003, rs397516815, rs730881054, rs397517164, rs397517172, rs397517147, rs397517148, rs727504295, rs397517149, rs730881045, rs397517153, rs397517154, rs727505381, rs397517156, rs574088829, rs397517159, rs397516792, rs397516791, rs397516801, rs397516802, rs397516803, rs397516809, rs397516810, rs397516825, rs397516829, rs397516891, rs397516903, rs397516904, rs397516905, rs397517041, rs397517042, rs397517076, rs397517077, rs397517146, rs397517150, rs397517163, rs397517174, rs397517180, rs397509343, rs672601334, rs672601335, rs587777179, rs587777180, rs483352822, rs587777613, rs202247812, rs121913233, rs727503384, rs121913341, rs180177036, rs180177042, rs121913357, rs727504426, rs727503380, rs727503381, rs727504662, rs727504370, rs727504170, rs727503996, rs730881014, rs267606706, rs121918464, rs869025197, rs869025196, rs869025195, rs869025194, rs869025193, rs869025192, rs869025191, rs869025189, rs869320686, rs797045165, rs797045166, rs869320687, rs797045167, rs864622410, rs869025340, rs869025573, rs869312687, rs876657651, rs886037952, rs886039607, rs886039463, rs777520196, rs886041414, rs189150283, rs868208063, rs1057519732, rs121913496, rs1057519963, rs781431741, rs1135401776, rs1555194026, rs1460026299, rs1553362937, rs1052382672, rs1553196539, rs149850248, rs1398859175, rs761685529, rs1034395178, rs1194536394, rs1555928249, rs750777752, rs1555391053, rs1553610155, rs145594158, rs770933647, rs777243508, rs1390048261, rs1223430276, rs1557962794, rs1249726034, rs150419186, rs782457908, rs1591495767, rs1591495776, rs1591495779, rs1576359216, rs1576387876, rs1576387885, rs727505093, rs1601718760, rs1592808357, rs1592798693, rs869025501, rs397507478, rs1572830693, rs1594982548, rs1458682620, rs1571999498, rs1572830219, rs1593351503, rs1592852902, rs1671004485, rs1673399238, rs397507536	25049390
Noonan-like syndrome with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair, Noonan syndrome-like disorder with loose anagen hair	rs267607048, rs730881020, rs886037952, rs886037954, rs886037955, rs1114167429, rs1553311527
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Noonan Syndrome	Noonan syndrome			GenCC
Metabolic Syndrome	Metabolic Syndrome			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinogenesis	Associate	27039262
Creutzfeldt Jakob Syndrome	Associate	29216791
Insomnia Fatal Familial	Associate	29216791
Lung Neoplasms	Associate	40311306
Melanoma	Associate	26502337
Myoclonus	Associate	29216791
Neoplasms	Inhibit	26502337
Noonan Syndrome	Associate	25049390
Prion Diseases	Associate	29216791
Prostatic Neoplasms	Associate	26925973
Scoliosis	Associate	34440387
Sezary Syndrome	Associate	27039262
Thyroid cancer medullary	Associate	31298226