MCTP2 (multiple C2 and transmembrane domain containing 2)

Gene

• Entrez ID: 55784
• Gene name: Multiple C2 and transmembrane domain containing 2
• Gene symbol: MCTP2
• Synonyms (NCBI Gene): -
• Chromosome: 15
• Chromosome location: 15q26.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029558	hsa-miR-26b-5p	Microarray	19088304
MIRT1138071	hsa-miR-1184	CLIP-seq
MIRT1138072	hsa-miR-1205	CLIP-seq
MIRT1138073	hsa-miR-1286	CLIP-seq
MIRT1138074	hsa-miR-1290	CLIP-seq
MIRT1138075	hsa-miR-135a	CLIP-seq
MIRT1138076	hsa-miR-135b	CLIP-seq
MIRT1138077	hsa-miR-140-3p	CLIP-seq
MIRT1138078	hsa-miR-153	CLIP-seq
MIRT1138079	hsa-miR-182	CLIP-seq
MIRT1138080	hsa-miR-2681	CLIP-seq
MIRT1138081	hsa-miR-300	CLIP-seq
MIRT1138082	hsa-miR-3064-3p	CLIP-seq
MIRT1138083	hsa-miR-31	CLIP-seq
MIRT1138084	hsa-miR-3121-5p	CLIP-seq
MIRT1138085	hsa-miR-3152-5p	CLIP-seq
MIRT1138086	hsa-miR-3158-5p	CLIP-seq
MIRT1138087	hsa-miR-381	CLIP-seq
MIRT1138088	hsa-miR-3942-3p	CLIP-seq
MIRT1138089	hsa-miR-421	CLIP-seq
MIRT1138090	hsa-miR-4253	CLIP-seq
MIRT1138091	hsa-miR-4469	CLIP-seq
MIRT1138092	hsa-miR-4527	CLIP-seq
MIRT1138093	hsa-miR-4642	CLIP-seq
MIRT1138094	hsa-miR-4666-3p	CLIP-seq
MIRT1138095	hsa-miR-4666-5p	CLIP-seq
MIRT1138096	hsa-miR-4684-5p	CLIP-seq
MIRT1138097	hsa-miR-4695-3p	CLIP-seq
MIRT1138098	hsa-miR-4696	CLIP-seq
MIRT1138099	hsa-miR-4720-5p	CLIP-seq
MIRT1138100	hsa-miR-4722-5p	CLIP-seq
MIRT1138101	hsa-miR-4761-3p	CLIP-seq
MIRT1138102	hsa-miR-4768-3p	CLIP-seq
MIRT1138103	hsa-miR-4773	CLIP-seq
MIRT1138104	hsa-miR-4774-3p	CLIP-seq
MIRT1138105	hsa-miR-4799-3p	CLIP-seq
MIRT1138106	hsa-miR-4802-3p	CLIP-seq
MIRT1138107	hsa-miR-574-3p	CLIP-seq
MIRT1138108	hsa-miR-582-3p	CLIP-seq
MIRT1138109	hsa-miR-586	CLIP-seq
MIRT1138110	hsa-miR-604	CLIP-seq
MIRT1138111	hsa-miR-647	CLIP-seq
MIRT1138112	hsa-miR-942	CLIP-seq
MIRT1138113	hsa-miR-361-3p	CLIP-seq
MIRT1138114	hsa-miR-3679-3p	CLIP-seq
MIRT1138115	hsa-miR-3684	CLIP-seq
MIRT1138116	hsa-miR-4307	CLIP-seq
MIRT1138117	hsa-miR-4446-5p	CLIP-seq
MIRT1138118	hsa-miR-875-5p	CLIP-seq
MIRT1138119	hsa-miR-1	CLIP-seq
MIRT1138120	hsa-miR-105	CLIP-seq
MIRT1138074	hsa-miR-1290	CLIP-seq
MIRT1138121	hsa-miR-2052	CLIP-seq
MIRT1138122	hsa-miR-206	CLIP-seq
MIRT1138123	hsa-miR-297	CLIP-seq
MIRT1138124	hsa-miR-3115	CLIP-seq
MIRT1138125	hsa-miR-3120-5p	CLIP-seq
MIRT1138126	hsa-miR-3130-5p	CLIP-seq
MIRT1138127	hsa-miR-3650	CLIP-seq
MIRT1138128	hsa-miR-4455	CLIP-seq
MIRT1138129	hsa-miR-4482	CLIP-seq
MIRT1138130	hsa-miR-4652-3p	CLIP-seq
MIRT1138095	hsa-miR-4666-5p	CLIP-seq
MIRT1138131	hsa-miR-4731-5p	CLIP-seq
MIRT1138106	hsa-miR-4802-3p	CLIP-seq
MIRT1138132	hsa-miR-522	CLIP-seq
MIRT1138133	hsa-miR-567	CLIP-seq
MIRT1138134	hsa-miR-613	CLIP-seq
MIRT1138074	hsa-miR-1290	CLIP-seq
MIRT2039209	hsa-miR-3665	CLIP-seq
MIRT2039210	hsa-miR-376c	CLIP-seq
MIRT2039211	hsa-miR-3944-5p	CLIP-seq
MIRT2039212	hsa-miR-4464	CLIP-seq
MIRT1138095	hsa-miR-4666-5p	CLIP-seq
MIRT2039213	hsa-miR-4699-3p	CLIP-seq
MIRT2039214	hsa-miR-4748	CLIP-seq
MIRT1138106	hsa-miR-4802-3p	CLIP-seq
MIRT2039215	hsa-miR-657	CLIP-seq
MIRT2269242	hsa-miR-10a	CLIP-seq
MIRT2269243	hsa-miR-10b	CLIP-seq
MIRT2269244	hsa-miR-1289	CLIP-seq
MIRT1138074	hsa-miR-1290	CLIP-seq
MIRT1138075	hsa-miR-135a	CLIP-seq
MIRT1138076	hsa-miR-135b	CLIP-seq
MIRT1138077	hsa-miR-140-3p	CLIP-seq
MIRT2269245	hsa-miR-141	CLIP-seq
MIRT1138078	hsa-miR-153	CLIP-seq
MIRT2269246	hsa-miR-1912	CLIP-seq
MIRT2269247	hsa-miR-200a	CLIP-seq
MIRT2269248	hsa-miR-3129-3p	CLIP-seq
MIRT2269249	hsa-miR-3145-5p	CLIP-seq
MIRT2269250	hsa-miR-3198	CLIP-seq
MIRT2269251	hsa-miR-339-5p	CLIP-seq
MIRT2269252	hsa-miR-3545-3p	CLIP-seq
MIRT2269253	hsa-miR-3620	CLIP-seq
MIRT2269254	hsa-miR-3646	CLIP-seq
MIRT2039209	hsa-miR-3665	CLIP-seq
MIRT2269255	hsa-miR-3692	CLIP-seq
MIRT2039210	hsa-miR-376c	CLIP-seq
MIRT2269256	hsa-miR-3925-3p	CLIP-seq
MIRT2039211	hsa-miR-3944-5p	CLIP-seq
MIRT2269257	hsa-miR-4251	CLIP-seq
MIRT2269258	hsa-miR-4294	CLIP-seq
MIRT2269259	hsa-miR-4309	CLIP-seq
MIRT2269260	hsa-miR-4436b-5p	CLIP-seq
MIRT2039212	hsa-miR-4464	CLIP-seq
MIRT1138130	hsa-miR-4652-3p	CLIP-seq
MIRT1138095	hsa-miR-4666-5p	CLIP-seq
MIRT1138097	hsa-miR-4695-3p	CLIP-seq
MIRT2269261	hsa-miR-4699-5p	CLIP-seq
MIRT2269262	hsa-miR-4735-5p	CLIP-seq
MIRT2039214	hsa-miR-4748	CLIP-seq
MIRT1138106	hsa-miR-4802-3p	CLIP-seq
MIRT2269263	hsa-miR-487a	CLIP-seq
MIRT2269264	hsa-miR-580	CLIP-seq
MIRT2269265	hsa-miR-587	CLIP-seq
MIRT1138110	hsa-miR-604	CLIP-seq
MIRT1138111	hsa-miR-647	CLIP-seq
MIRT2039215	hsa-miR-657	CLIP-seq
MIRT2269266	hsa-miR-665	CLIP-seq
MIRT2269267	hsa-miR-766	CLIP-seq
MIRT2269268	hsa-miR-1827	CLIP-seq
MIRT1138074	hsa-miR-1290	CLIP-seq
MIRT1138095	hsa-miR-4666-5p	CLIP-seq
MIRT2390749	hsa-miR-4766-5p	CLIP-seq
MIRT1138106	hsa-miR-4802-3p	CLIP-seq
MIRT2431055	hsa-miR-4523	CLIP-seq
MIRT2431056	hsa-miR-539	CLIP-seq
MIRT2442353	hsa-miR-1248	CLIP-seq
MIRT2442354	hsa-miR-1322	CLIP-seq
MIRT2269248	hsa-miR-3129-3p	CLIP-seq
MIRT2442355	hsa-miR-3655	CLIP-seq
MIRT2442356	hsa-miR-4297	CLIP-seq
MIRT2442357	hsa-miR-532-5p	CLIP-seq
MIRT2442358	hsa-miR-578	CLIP-seq
MIRT2453834	hsa-miR-4470	CLIP-seq
MIRT1138077	hsa-miR-140-3p	CLIP-seq
MIRT1138077	hsa-miR-140-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005509	Function	Calcium ion binding	IDA	15528213
GO:0005544	Function	Calcium-dependent phospholipid binding	IDA	15528213
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0007275	Process	Multicellular organism development	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IDA	15528213
GO:0019722	Process	Calcium-mediated signaling	NAS	15528213
GO:0030672	Component	Synaptic vesicle membrane	IBA	21873635
GO:0046928	Process	Regulation of neurotransmitter secretion	IBA	21873635

Other IDs

• MIM: 616297
• HGNC: 25636
• e!Ensembl: ENSG00000140563

Protein

• UniProt ID: Q6DN12
• Protein name: Multiple C2 and transmembrane domain-containing protein 2
• Protein function: Might play a role in the development of cardiac outflow tract.
• PDB: 2EP6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00168	C2	194 → 294	C2 domain	Domain
  PF00168	C2	356 → 454	C2 domain	Domain
  PF00168	C2	509 → 608	C2 domain	Domain
  PF08372	PRT_C	690 → 857	Plant phosphoribosyltransferase C-terminal	Family

• Sequence:

  MDLDKPSVWGSLKQRTRPLLINLSKKKVKKNPSKPPDLRARHHLDRRLSLSVPDLLEAEA
  LAPEGRPYSGPQSSYTSVPSSLSTAGIFPKSSSSSLKQSEEELDWSQEEASHLHVVETDS
  EEAYASPAERRRVSSNGIFDLQKTSLGGDAPEEPEKLCGSSDLNASMTSQHFEEQSVPGE
  ASDGLSNLPSPFAYLLTIHLKEGRNLVVRDRCGTSDPYVKFKLNGKTLYKSKVIYKNLNP
  VWDEIVVLPIQSLDQKLRVKVYDRDLTTSDFMGSAFVILSDLELNRTTEHILKLEDPNSL
  EDDMGVIVLNLNLVVKQGDFKRHRWSNRKRLSASKSSLIRNLRLSESLKKNQLWNGIISI
  TLLEGKNVSGGSMTEMFVQLKLGDQRYKSKTLCKSANPQWQEQFDFHYFSDRMGILDIEV
  WGKDNKKHEERLGTCKVDISALPLKQANCLELPLDSCLGALLMLVTLTPCAGVSVSDLCV
  CPLADLSERKQITQRYCLQNSLKDVKDVGILQVKVLKAADLLAADFSGKSDPFCLLELGN
  DRLQTHTVYKNLNPEWNKVFTFPIKDIHDVLEVTVFDEDGDKPPDFLGKVAIPLLSIRDG
  QPNCYVLKNKDLEQAFKGVIYLEMDLIYNPVKASIRTFTPREKRFVEDSRKLSKKILSRD
  VDRVKRITMAIWNTMQFLKSCFQWESTLRSTIAFAVFLITVWNFELYMIPLALLLIFVYN
  FIRPVKGKVSSIQDSQESTDIDDEEDEDDKESEKKGLIERIYMVQDIVSTVQNVLEEIAS
  FGERIKNTFNWTVPFLSSLACLILAAATIILYFIPLRYIILIWGINKFTKKLRNPYSIDN
  NELLDFLSRVPSDVQKVQYAELKLCSSHSPLRKKRSAL

• Sequence length: 878

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Aplasia cutis congenita	Aplasia cutis congenita over the scalp vertex	rs587777706
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Bicuspid aortic valve	Bicuspid aortic valve	rs1569484234, rs1569484208
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs775394591
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Hypoplastic left heart syndrome	Hypoplastic Left Heart Syndrome	rs1554284604, rs1843006535
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
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	19223264
Syndactyly	Simple syndactyly of toes, first web space	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304

Unknown
Disease term	Disease name	Evidence	References	Source
Pulmonary hypoplasia	Congenital hypoplasia of lung			ClinVar
Mental depression	Unipolar Depression, Major Depressive Disorder		18367154	ClinVar
Congenital heart defects	congenital heart defects, multiple types			GenCC
Coronary artery disease	Coronary artery disease			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Aortic Dissection	Associate	36868039
Carcinoma Hepatocellular	Associate	36035299
Mitral Valve Insufficiency	Associate	35132965
Neoplasms Adipose Tissue	Associate	17712124
Obesity	Associate	17712124
Small Cell Lung Carcinoma	Associate	34621500