Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55784
Gene name	Multiple C2 and transmembrane domain containing 2
Gene symbol	MCTP2
Synonyms (NCBI Gene)	-
Chromosome	15
Chromosome location	15q26.2

138

Show/Hide all (138)

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

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	15528213
GO:0005509	Function	Calcium ion binding	IEA
GO:0005544	Function	Calcium-dependent phospholipid binding	IDA	15528213
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	15528213
GO:0016020	Component	Membrane	IEA
GO:0019722	Process	Calcium-mediated signaling	NAS	15528213
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	IBA

MIM	HGNC	e!Ensembl
616297	25636	ENSG00000140563

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

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS, MULTIPLE TYPE S	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL DELETION 15Q SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL MONOSOMY 15Q	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MCTP2-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (44)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aortic coarctation	Aortic Coarctation	BEFREE	23773997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	36868039	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia cutis congenita over the scalp vertex	Aplasia Cutis Congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36035299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome 15q26-Qter Deletion Syndrome	15q26-qter Deletion Syndrome	ORPHANET_DG	23773997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	23028342, 23543049, 24871321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28779365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal monosomy 15q	Distal Monosomy 15q	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	23773997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	23028342, 23543049, 24871321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	18367154		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	18367154		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17712124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	17712124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19223264		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	19223264		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Simple syndactyly of toes, first web space	Syndactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	34621500	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	18367154		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	18367154		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MCTP2 (multiple C2 and transmembrane domain containing 2)