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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MCTP2 Gene

protein-coding GIFtS: 47
GCID: GC15P094774

multiple C2 domains, transmembrane 2

Explore 1 disease affiliated with
MCTP2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Multiple C2 Domains, Transmembrane 2¹ ²
FLJ11175¹
FLJ33303¹
Multiple C2 And Transmembrane Domain-Containing Protein 2²
Multiple C2-Domains With Two Transmembrane Regions 2 1²

External Ids:	HGNC: 25636¹	Entrez Gene: 55784²	Ensembl: ENSG00000140563⁷	UniProtKB: Q6DN12³

Export aliases for MCTP2 gene to outside databases

Previous GC identifers: GC15P092575 GC15P092642 GC15P070976

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010274.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MCTP2 gene promoter:
HFH-3 Tal-1 STAT5A E47 FOXI1 CREB RORalpha1 POU2F1 deltaCREB POU2F1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MCTP2 promoter sequence

Search SABiosciences Chromatin IP Primers for MCTP2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCTP2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q26.2 Ensembl cytogenetic band: 15q26.2 HGNC cytogenetic band: 15q26.2

MCTP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCTP2 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P094774: view genomic region (about GC identifiers)

Start:	94,774,767 bp from pter	End:	95,027,181 bp from pter
Size:	252,415 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MCTP2_HUMAN, Q6DN12 (See protein sequence)

Recommended Name: Multiple C2 and transmembrane domain-containing protein 2

Size: 878 amino acids; 99596 Da

Cofactor: Binds calcium via the C2 domains in absence of phospholipids

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Sequence caution: Sequence=AAH41387.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAA91998.1;

Type=Erroneous initiation; Note=Translation N-terminally extended;

1 PDB 3D structure from and Proteopedia for MCTP2:

2EP6 (3D)

Secondary accessions: A2RRC2 C6G483 C6G484 Q49AB0 Q8TAX2 Q9NUS2 Q9NUW7

Alternative splicing: 5 isoforms: Q6DN12-1 Q6DN12-2 Q6DN12-3 Q6DN12-4 Q6DN12-6 (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for MCTP2: NX_Q6DN12

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6DN12

MCTP2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001153115.1 NP_001153116.1 NP_060819.3

ENSEMBL proteins:

ENSP00000438521 ENSP00000388887 ENSP00000395109 ENSP00000350377 ENSP00000454847

ENSP00000329646

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	Uscn Proteins for MCTP2

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0016021	integral to membrane	IDA	15528213

MCTP2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MCTP2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MCTP2 for domains About GeneDecksing

4 InterPro domains/families:

IPR013583 PRibTrfase_C

IPR018029 C2_membr_targeting

IPR008973 C2_Ca/lipid-bd_dom_CaLB

IPR000008 C2_Ca-dep

Graphical View of Domain Structure for InterPro Entry Q6DN12

ProtoNet protein and cluster: Q6DN12

1 Blocks protein family: IPB000008 C2 domain

UniProtKB/Swiss-Prot: MCTP2_HUMAN, Q6DN12

Similarity: Belongs to the MCTP family

Similarity: Contains 3 C2 domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA Products:		OriGene 3'-UTR Clone (see all 3): MCTP2 Browse MicroRNA Expression Plasmids
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In Situ Assay
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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IDA	15528213
GO:0005544	NOT calcium-dependent phospholipid binding	IDA	15528213

MCTP2 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MCTP2

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for MCTP2 (Q6DN12³ ENSP00000350377⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MYC	P01106³, ENSP00000367207⁴	I2D: score=1 STRING: ENSP00000367207
METTL9	ENSP00000350874⁴	STRING: ENSP00000350874

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0019722	calcium-mediated signaling	NAS	15528213

MCTP2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MCTP2

1 HMDB Compound for MCTP2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

Search CenterWatch for drugs/clinical trials and news about MCTP2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MCTP2 gene (3 alternative transcripts):

NM_001159643.1 NM_001159644.1 NM_018349.3

Unigene Cluster for MCTP2:

Multiple C2 domains, transmembrane 2

Hs.33368 [show with all ESTs]

Unigene Representative Sequence: NM_018349

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000543482(uc010urg.1) ENST00000561608 ENST00000556363(uc002btg.4 uc002bth.4)

ENST00000456504(uc010boj.3 uc002btj.3 uc010bok.3 uc002btl.3)

ENST00000451018 ENST00000357742 ENST00000557742(uc002btk.4) ENST00000557505

ENST00000449432 ENST00000331706(uc002bti.2)

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Additional cDNA sequence:

AK001953.1 AK002037.1 AK026984.1 AK090622.1 AK300325.1 AL360258.1 AL832048.1 AL832717.1

AY656717.1 BC025708.1 BC041387.1 BC111024.1 BC131527.1

11 DOTS entries:

DT.95158352 DT.95158351 DT.97785146 DT.410812 DT.100016136 DT.210483 DT.75164910 DT.99933072

DT.100777969 DT.121054434 DT.40111500

24/83 AceView cDNA sequences (see all 83):

BU073254 BC025708 AA451742 AK090622 AA827812 BM661960 AK001953 CB131405

AA748418 AA279534 AK002037 AI742835 AA564430 AL360258 BX485665 AA554052

AX746539 AA309413 AI093216 AA477006 CA430843 AU137844 AI052257 AA280207

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for MCTP2 (see all 8) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10a	·	10b	^	11	^	12a	·	12b	·	12c	^	13a	·	13b	^	14	^	15	^	16	^	17a	·	17b	^	18	^	19a	·	19b	^	20	^
SP1:					-																-				-																		-				-
SP2:																															-												-				-
SP3:			-		-						-										-				-
SP4:																															-												-				-
SP5:			-								-

ExUns:	21	^	22	^	23	^	24	^	25	^	26	^	27	^	28a	·	28b	·	28c
SP1:	-										-
SP2:	-										-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for MCTP2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MCTP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAAAAATCCT

About this image
See MCTP2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MCTP2

SOURCE GeneReport for Unigene cluster: Hs.33368

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCTP2 gene from 7/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC426324¹	multiple C2 and transmembrane domain-containing protein more	72.44(n) 71.27(a)		426324 XM_003641820.1 XP_003641868.1
lizard (Anolis carolinensis)	Reptilia	MCTP2⁶	--	68(a)	1 ↔ 1	GL343351.1(42153-149482)
zebrafish (Danio rerio)	Actinopterygii	mctp2a¹	multiple C2 domains, transmembrane 2a	56.44(n) 50.12(a)		562393 XM_685778.5 XP_690870.5
fruit fly (Drosophila melanogaster)	Insecta	Mctp⁶	Multiple C2 domain and transmembrane region protei...	30(a)	1 → many	2R(14649263-14662172)
worm (Caenorhabditis elegans)	Secernentea	D2092.1⁶	--	30(a)	1 → many	I(6629760-6637430)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT1G51570⁶ AT3G57880⁶ (see all 17)	anthranilate phosphoribosyltransferase-like protei... calcium-dependent lipid-binding domain-containing ... (see all 17)	18(a) 17(a) (see all 17)	many ↔ many many ↔ many (see all 17)	1(19122170-19124688) 3(21430983-21434600)
rice (Oryza sativa)	Liliopsida	-- -- (see all 15)	anthranilate phosphoribosyltransferase, putative, ... anthranilate phosphoribosyltransferase, putative, ... (see all 15)	17(a) 16(a) (see all 15)	many ↔ many many ↔ many (see all 15)	5(21018429-21021499) 5(17751559-17755951)

ENSEMBL Gene Tree for MCTP2 (if available)
TreeFam Gene Tree for MCTP2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MCTP2 gene

ESYT1² ESYT3² MCTP1² ESYT2²

1 SIMAP similar gene for MCTP2 using alignment to 2 protein entries: MCTP2_HUMAN (see all proteins):

MCTP1

MCTP2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs35468711^1,2	C,	--	71137773(+)	`ATAGG-/TTTTTT`	1	--	int¹		1		NA	2
rs7175871^1,2	H	--	94839477(+)	`TATGAG/AATGTG`	2	--	us2k¹		4		NS EA	418
rs188426229^1,2		--	94839499(+)	`CTTGCA/GTATTG`	2	--	us2k¹		0	--	--	--	--
rs1378597^1,2	C,F,A,H,	--	94839569(-)	`AAATAG/TTTTAC`	2	--	us2k¹		8		NA WA EA	370
rs114865148^1,2	F,	--	94839591(+)	`AGCCAA/GAATGA`	2	--	us2k¹		1		WA	118
rs147624461^1,2		--	94839747(+)	`TGTTAA/GACTCA`	2	--	us2k¹		0	--	--	--	--
rs74030929^1,2	C,	--	94839773(+)	`TAACAG/ATGAGA`	2	--	us2k¹		3		WA NA	240
rs139611953^1,2		--	94839859(+)	`TGTCTC/GAGCAC`	2	--	us2k¹		0	--	--	--	--
rs149758502^1,2		--	94839928(+)	`ATCTCA/GTCCCC`	2	--	us2k¹		0	--	--	--	--
rs181587744^1,2		--	94839948(+)	`GTGAGA/GCAATG`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MCTP2 (94774767 - 95024767 bp, first 250kb of MCTP2)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for MCTP2
5 CNVs: 72366 87850 49626 66878 77074
1 Indel: 102167

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MCTP2 for disorders About GeneDecksing

1 disease for MCTP2: About MalaCards

schizophrenia

Human Genome Epidemiology (HuGE) Navigator: MCTP2 (4 documents)

Export disorders for MCTP2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MCTP2 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with MCTP2)

Utopia: connect your pdf to the dynamic
world of online information

Evolutionarily conserved multiple C2 domain proteins with two transmembrane regions (MCTPs) and unusual Ca2+ binding properties. (PubMed id 15528213)^{1, 2, 3} Shin O.H.... Sudhof T.C. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
GWAS for discovery and replication of genetic loci as sociated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)¹ Aouizerat B.E....Tseng Z.H. (2011)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Common genetic variation and performance on standardi zed cognitive tests. (PubMed id 20125193)¹ Cirulli E.T....Goldstein D.B. (2010)
Association of MCTP2 gene variants with schizophrenia in three independent samples of Scandinavian origin (SCOPE). (PubMed id 19223264)¹ Djurovic S....Andreassen O.A. (2009)
HLA-B*5701 genotype is a major determinant of drug-in duced liver injury due to flucloxacillin. (PubMed id 19483685)¹ Daly A.K....Day C.P. (2009)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 55784	HGNC: 25636	AceView: MCTP2	Ensembl:ENSG00000140563	euGenes: HUgn55784
ECgene: MCTP2	H-InvDB: MCTP2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MCTP2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MCTP2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MCTP2 gene:
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multiple C2 domains, transmembrane 2

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multiple C2 domains, transmembrane 2

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