CHN1 (chimerin 1)

Gene

• Entrez ID: 1123
• Gene name: Chimerin 1
• Gene symbol: CHN1
• Synonyms: ARHGAP2, CHN, DURS2, NC, RHOGAP2
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912792	T>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant, synonymous variant, genic upstream transcript variant
rs121912793	A>C	Pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121912794	A>G	Pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121912795	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121912796	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121912797	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121912798	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs387906599	G>A	Pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, missense variant
rs387906600	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1553475005	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1558939623	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049652	hsa-miR-92a-3p	CLASH	23622248
MIRT036041	hsa-miR-1301-3p	CLASH	23622248
MIRT890922	hsa-miR-3921	CLIP-seq
MIRT890923	hsa-miR-4539	CLIP-seq
MIRT890924	hsa-miR-4653-5p	CLIP-seq
MIRT890925	hsa-miR-4768-5p	CLIP-seq
MIRT1964120	hsa-miR-3675-5p	CLIP-seq
MIRT1964120	hsa-miR-3675-5p	CLIP-seq
MIRT2200276	hsa-miR-376c	CLIP-seq
MIRT2503134	hsa-miR-1202	CLIP-seq
MIRT2503135	hsa-miR-1287	CLIP-seq
MIRT2503136	hsa-miR-1912	CLIP-seq
MIRT2503137	hsa-miR-224	CLIP-seq
MIRT2503138	hsa-miR-2467-3p	CLIP-seq
MIRT2503139	hsa-miR-3130-5p	CLIP-seq
MIRT2503140	hsa-miR-3135b	CLIP-seq
MIRT2503141	hsa-miR-3170	CLIP-seq
MIRT2503142	hsa-miR-3182	CLIP-seq
MIRT2503143	hsa-miR-3664-5p	CLIP-seq
MIRT1964120	hsa-miR-3675-5p	CLIP-seq
MIRT2503144	hsa-miR-3686	CLIP-seq
MIRT2200276	hsa-miR-376c	CLIP-seq
MIRT890922	hsa-miR-3921	CLIP-seq
MIRT2503145	hsa-miR-3972	CLIP-seq
MIRT2503146	hsa-miR-4278	CLIP-seq
MIRT2503147	hsa-miR-4438	CLIP-seq
MIRT2503148	hsa-miR-4453	CLIP-seq
MIRT2503149	hsa-miR-4464	CLIP-seq
MIRT2503150	hsa-miR-4482	CLIP-seq
MIRT2503151	hsa-miR-4489	CLIP-seq
MIRT2503152	hsa-miR-4538	CLIP-seq
MIRT890923	hsa-miR-4539	CLIP-seq
MIRT890924	hsa-miR-4653-5p	CLIP-seq
MIRT2503153	hsa-miR-4659a-3p	CLIP-seq
MIRT2503154	hsa-miR-4659b-3p	CLIP-seq
MIRT2503155	hsa-miR-4714-5p	CLIP-seq
MIRT2503156	hsa-miR-4716-3p	CLIP-seq
MIRT2503157	hsa-miR-4742-3p	CLIP-seq
MIRT2503158	hsa-miR-4746-3p	CLIP-seq
MIRT2503159	hsa-miR-4748	CLIP-seq
MIRT890925	hsa-miR-4768-5p	CLIP-seq
MIRT2503160	hsa-miR-494	CLIP-seq
MIRT2503161	hsa-miR-502-5p	CLIP-seq
MIRT2503162	hsa-miR-550b	CLIP-seq
MIRT2503163	hsa-miR-657	CLIP-seq
MIRT2503160	hsa-miR-494	CLIP-seq
MIRT2503134	hsa-miR-1202	CLIP-seq
MIRT2503135	hsa-miR-1287	CLIP-seq
MIRT2503136	hsa-miR-1912	CLIP-seq
MIRT2503137	hsa-miR-224	CLIP-seq
MIRT2503138	hsa-miR-2467-3p	CLIP-seq
MIRT2503139	hsa-miR-3130-5p	CLIP-seq
MIRT2503140	hsa-miR-3135b	CLIP-seq
MIRT2503141	hsa-miR-3170	CLIP-seq
MIRT2503142	hsa-miR-3182	CLIP-seq
MIRT2503143	hsa-miR-3664-5p	CLIP-seq
MIRT1964120	hsa-miR-3675-5p	CLIP-seq
MIRT2503144	hsa-miR-3686	CLIP-seq
MIRT2200276	hsa-miR-376c	CLIP-seq
MIRT2503145	hsa-miR-3972	CLIP-seq
MIRT2503146	hsa-miR-4278	CLIP-seq
MIRT2503147	hsa-miR-4438	CLIP-seq
MIRT2503148	hsa-miR-4453	CLIP-seq
MIRT2503149	hsa-miR-4464	CLIP-seq
MIRT2503150	hsa-miR-4482	CLIP-seq
MIRT2503151	hsa-miR-4489	CLIP-seq
MIRT2503152	hsa-miR-4538	CLIP-seq
MIRT2503153	hsa-miR-4659a-3p	CLIP-seq
MIRT2503154	hsa-miR-4659b-3p	CLIP-seq
MIRT2503155	hsa-miR-4714-5p	CLIP-seq
MIRT2503156	hsa-miR-4716-3p	CLIP-seq
MIRT2503157	hsa-miR-4742-3p	CLIP-seq
MIRT2503158	hsa-miR-4746-3p	CLIP-seq
MIRT2503159	hsa-miR-4748	CLIP-seq
MIRT890925	hsa-miR-4768-5p	CLIP-seq
MIRT2503160	hsa-miR-494	CLIP-seq
MIRT2503161	hsa-miR-502-5p	CLIP-seq
MIRT2503162	hsa-miR-550b	CLIP-seq
MIRT2503163	hsa-miR-657	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 25910212, 31515488, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0008045	Process	Motor neuron axon guidance	ISS
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0043087	Process	Regulation of GTPase activity	IBA	21873635
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046875	Function	Ephrin receptor binding	IBA	21873635
GO:0048013	Process	Ephrin receptor signaling pathway	IBA	21873635
GO:0048013	Process	Ephrin receptor signaling pathway	ISS
GO:0050770	Process	Regulation of axonogenesis	ISS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS

Other IDs

• MIM: 118423
• HGNC: 1943
• e!Ensembl: ENSG00000128656

Protein

• UniProt ID: P15882
• Protein name: N-chimaerin (A-chimaerin) (Alpha-chimerin) (N-chimerin) (NC) (Rho GTPase-activating protein 2)
• Protein function: GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal locomotor circuits as a direct effector of EPHA4 in axon guidance.
• PDB: 2OSA, 3CXL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00017	SH2	50 → 119	SH2 domain	Domain
  PF00130	C1_1	206 → 258	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
  PF00620	RhoGAP	282 → 435	RhoGAP domain	Domain

• Sequence:

  MALTLFDTDEYRPPVWKSYLYQLQQEAPHPRRITCTCEVENRPKYYGREFHGMISREAAD
  QLLIVAEGSYLIRESQRQPGTYTLALRFGSQTRNFRLYYDGKHFVGEKRFESIHDLVTDG
  LITLYIETKAAEYIAKMTINPIYEHVGYTTLNREPAYKKHMPVLKETHDERDSTGQDGVS
  EKRLTSLVRRATLKENEQIPKYEKIHNFKVHTFRGPHWCEYCANFMWGLIAQGVKCADCG
  LNVHKQCSKMVPNDCKPDLKHVKKVYSCDLTTLVKAHTTKRPMVVDMCIREIESRGLNSE
  GLYRVSGFSDLIEDVKMAFDRDGEKADISVNMYEDINIITGALKLYFRDLPIPLITYDAY
  PKFIESAKIMDPDEQLETLHEALKLLPPAHCETLRYLMAHLKRVTLHEKENLMNAENLGI
  VFGPTLMRSPELDAMAALNDIRYQRLVVELLIKNEDILF

• Sequence length: 459

Pathways

Reactome:

Rho GTPase cycle

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
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
Duane-radial ray syndrome	Okihiro Syndrome	rs74315424, rs1601170510, rs1601170799, rs1601168967, rs74315425, rs1601168015, rs1601171949, rs74315426, rs74315427, rs74315428, rs74315429, rs879255537, rs1555850961, rs1568864697, rs1568865283, rs1568866374, rs2078031226
Aniridia	Aniridia	rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979, rs121907929, rs397514640, rs398123295, rs606231388, rs864309681, rs886041222, rs886041221, rs1057517785, rs1057517783, rs757259413, rs1057517780, rs1131692319, rs1131692317, rs1131692316, rs1131692315, rs1131692314, rs1131692313, rs1131692312, rs1131692310, rs1131692309, rs1131692308, rs1131692307, rs1131692306, rs1131692305, rs1131692304, rs1131692303, rs1131692302, rs1131692301, rs1131692300, rs1131692299, rs1131692298, rs1131692297, rs1131692296, rs1131692295, rs1131692294, rs1131692293, rs1131692292, rs1131692291, rs1131692290, rs1554985709, rs1131692289, rs141873759, rs1131692287, rs1131692286, rs1131692285, rs1131692284, rs1131692282, rs1554985714, rs1554984996, rs1554983586, rs1554982537, rs1554983229, rs1554983571, rs1554985305, rs1554985378, rs1554985737, rs1554986754, rs1554985028, rs1411880763, rs1554985320, rs1565264372, rs1565264387, rs1565264399, rs1554986858, rs1565277245, rs1565245598, rs1565246499, rs1565238322, rs1592416305, rs1592563428, rs1592348310, rs750848278, rs1592348542, rs1592348901, rs1592349567, rs1592367444, rs1592367623, rs1592369407, rs1592369500, rs1592369895, rs1592370052, rs1592409736, rs1592409876, rs1592410582, rs1592411896, rs1592414464, rs1592415563, rs1592415745, rs1592415868, rs1592415958, rs1592416453, rs1592420967, rs1592421398, rs1592433022, rs1592433545, rs1592433606, rs1592434096, rs1592435423, rs151086737, rs1592530126, rs1592530379, rs1592530521, rs1592531953, rs1592532084, rs1592532169, rs1554985100, rs1592542273, rs1592542705, rs1357628990, rs1592542942, rs1592543032, rs1592543499, rs1592543841, rs769095184, rs1592544327, rs1592544553, rs759557055, rs1592545392, rs760490431, rs763807196, rs1592545972, rs1592546024, rs1592546120, rs1592546273, rs1592562717, rs1592562836, rs1592562910, rs1592563047, rs1592563240, rs1592563333, rs1592563636, rs1592563721, rs1592564013, rs1592564157, rs1592564219, rs1592564366, rs1388158419, rs1592610205, rs1592350356, rs1592370265, rs1592412022, rs1592416538, rs1592421981, rs1592422097, rs1592435527, rs1592435632, rs1592435653, rs1592532561, rs1592532580, rs1592542002, rs1592542060, rs1592546340, rs1592546566, rs1592546589, rs1592564908, rs1592614756, rs1592654547, rs1592610121, rs1954534591
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
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
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polydactyly	Polydactyly preaxial type 1	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987
Duane syndrome	Duane Retraction Syndrome, Type 2, Duane Retraction Syndrome, Type 3	rs121912792, rs121912793, rs121912794, rs121912795, rs121912796, rs121912797, rs121912798, rs387906599	18653847

Unknown
Disease name	Disease term	dbSNP ID	References
Duane retraction syndrome	Duane Retraction Syndrome, Type 1 Duane Retraction Syndrome	rs121912838, rs574270883, rs375494218, rs886055152, rs547068631, rs66480716	18653847
Ptosis	Blepharoptosis, Ptosis	rs139920573
Arachnodactyly	Arachnodactyly
Blepharophimosis	Blepharophimosis
Blepharospasm	Blepharospasm
Congenital camptodactyly	Congenital Camptodactyly
Congenital clubfoot	Congenital clubfoot
Congenital coloboma of iris	Congenital coloboma of iris
Congenital hypoplasia of radius	Congenital hypoplasia of radius
Dandy-walker syndrome	Dandy-Walker Syndrome
Diaphragmatic eventration	Diaphragmatic Eventration
Dysphagia	Deglutition Disorders
Ectopic kidney	Ectopic kidney
Fundus coloboma	Fundus coloboma
Hydronephrosis	Hydronephrosis
Hypoplasia of optic disc	Hypoplasia of optic disc
Laryngomalacia	Laryngomalacia
Microcornea	Microcornea
Microglossia	Microglossia
Micrognathism	Micrognathism
Neck webbing	Neck webbing
Nyctalopia	Nyctalopia
Oculomotor nerve palsy	Oculomotor Nerve Paralysis
Plagiocephaly	Plagiocephaly
Retinal coloboma	Coloboma of the Retina
Spina bifida occulta	Spina Bifida Occulta
Stenosis of external auditory canal	Stenosis of external auditory canal
Strabismus	Strabismus
Uranostaphyloschisis	Uranostaphyloschisis