UniProtKB - Q6DN12 (MCTP2_HUMAN)
Protein
Multiple C2 and transmembrane domain-containing protein 2
Gene
MCTP2
Organism
Homo sapiens (Human)
Status
Functioni
Might play a role in the development of cardiac outflow tract.1 Publication
Cofactori
Ca2+PROSITE-ProRule annotation1 PublicationNote: Binds Ca2+ via the C2 domains in absence of phospholipids.1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 210 | Calcium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 210 | Calcium 2PROSITE-ProRule annotation | 1 | |
Metal bindingi | 216 | Calcium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 263 | Calcium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 263 | Calcium 2PROSITE-ProRule annotation | 1 | |
Metal bindingi | 265 | Calcium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 265 | Calcium 2PROSITE-ProRule annotation | 1 | |
Metal bindingi | 270 | Calcium 2PROSITE-ProRule annotation | 1 | |
Metal bindingi | 525 | Calcium 3PROSITE-ProRule annotation | 1 | |
Metal bindingi | 525 | Calcium 4PROSITE-ProRule annotation | 1 | |
Metal bindingi | 531 | Calcium 3PROSITE-ProRule annotation | 1 | |
Metal bindingi | 577 | Calcium 3PROSITE-ProRule annotation | 1 | |
Metal bindingi | 577 | Calcium 4PROSITE-ProRule annotation | 1 | |
Metal bindingi | 579 | Calcium 3PROSITE-ProRule annotation | 1 | |
Metal bindingi | 579 | Calcium 4PROSITE-ProRule annotation | 1 | |
Metal bindingi | 585 | Calcium 4PROSITE-ProRule annotation | 1 |
GO - Molecular functioni
- calcium ion binding Source: HGNC-UCL
GO - Biological processi
- calcium-mediated signaling Source: HGNC-UCL
- multicellular organism development Source: UniProtKB-KW
- regulation of neurotransmitter secretion Source: GO_Central
Keywordsi
Molecular function | Developmental protein |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q6DN12 |
Protein family/group databases
TCDBi | 9.A.57.1.6, the extended-synaptotagmin (e-syt) family |
Names & Taxonomyi
Protein namesi | Recommended name: Multiple C2 and transmembrane domain-containing protein 2 |
Gene namesi | Name:MCTP2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000140563.14 |
HGNCi | HGNC:25636, MCTP2 |
MIMi | 616297, gene |
neXtProti | NX_Q6DN12 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Cytosol
- cytosol Source: HPA
Nucleus
- nucleoplasm Source: HPA
Other locations
- integral component of membrane Source: HGNC-UCL
- membrane Source: UniProtKB
- synaptic vesicle membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 697 – 717 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 802 – 822 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Heterozygosity for a 2.2-Mb deletion at chromosome 15q26.2, encompassing MCTP2, has been identified in a 10-year-old girl and her 3-year-old half brother, who had both coarctation of the aorta associated with dysmorphic features and ventricular septal defects. An intragenic MCTP2 duplication, leading to premature truncation (F697X) within the first transmembrane region of the protein, has also been observed in a male patient with a non-syndromic complex cardiac malformation involving coarctation, hypoplastic left heart, mitral atresia, bicuspid aortic valve and muscular ventricular septal defect. Although the link between left ventricular outflow tract malformations and MCTP2 could not be established, it has been proposed that defects in the MCTP2 gene may contribute to phenotype. This hypothesis is supported by the observation that Xenopus laevis embryos treated with MCTP2 morpholinos show no evidence of endocardial cushion formation at any level of the developing outflow tract (PubMed:23773997).1 Publication
Organism-specific databases
DisGeNETi | 55784 |
MalaCardsi | MCTP2 |
OpenTargetsi | ENSG00000140563 |
Orphaneti | 1596, Distal monosomy 15q |
PharmGKBi | PA142671473 |
Miscellaneous databases
Pharosi | Q6DN12, Tbio |
Polymorphism and mutation databases
BioMutai | MCTP2 |
DMDMi | 294862501 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000294472 | 1 – 878 | Multiple C2 and transmembrane domain-containing protein 2Add BLAST | 878 |
Proteomic databases
EPDi | Q6DN12 |
jPOSTi | Q6DN12 |
MassIVEi | Q6DN12 |
MaxQBi | Q6DN12 |
PaxDbi | Q6DN12 |
PeptideAtlasi | Q6DN12 |
PRIDEi | Q6DN12 |
ProteomicsDBi | 66238 [Q6DN12-1] 66239 [Q6DN12-2] 66240 [Q6DN12-3] 66241 [Q6DN12-4] 66242 [Q6DN12-6] |
PTM databases
iPTMneti | Q6DN12 |
PhosphoSitePlusi | Q6DN12 |
Expressioni
Gene expression databases
Bgeei | ENSG00000140563, Expressed in blood and 201 other tissues |
ExpressionAtlasi | Q6DN12, baseline and differential |
Genevisiblei | Q6DN12, HS |
Organism-specific databases
HPAi | ENSG00000140563, Tissue enhanced (lymphoid) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 120898, 2 interactors |
IntActi | Q6DN12, 1 interactor |
STRINGi | 9606.ENSP00000350377 |
Miscellaneous databases
RNActi | Q6DN12, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q6DN12 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q6DN12 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 177 – 292 | C2 1PROSITE-ProRule annotationAdd BLAST | 116 | |
Domaini | 334 – 452 | C2 2PROSITE-ProRule annotationAdd BLAST | 119 | |
Domaini | 494 – 607 | C2 3PROSITE-ProRule annotationAdd BLAST | 114 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 91 – 95 | Poly-Ser | 5 |
Sequence similaritiesi
Belongs to the MCTP family.Curated
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1030, Eukaryota |
GeneTreei | ENSGT00940000156291 |
HOGENOMi | CLU_1371782_0_0_1 |
InParanoidi | Q6DN12 |
OMAi | QFLRSCF |
OrthoDBi | 234298at2759 |
PhylomeDBi | Q6DN12 |
TreeFami | TF323373 |
Family and domain databases
Gene3Di | 2.60.40.150, 3 hits |
InterProi | View protein in InterPro IPR000008, C2_dom IPR035892, C2_domain_sf IPR013583, PRibTrfase_C |
Pfami | View protein in Pfam PF00168, C2, 3 hits PF08372, PRT_C, 1 hit |
SMARTi | View protein in SMART SM00239, C2, 3 hits |
PROSITEi | View protein in PROSITE PS50004, C2, 3 hits |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q6DN12-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDLDKPSVWG SLKQRTRPLL INLSKKKVKK NPSKPPDLRA RHHLDRRLSL
60 70 80 90 100
SVPDLLEAEA LAPEGRPYSG PQSSYTSVPS SLSTAGIFPK SSSSSLKQSE
110 120 130 140 150
EELDWSQEEA SHLHVVETDS EEAYASPAER RRVSSNGIFD LQKTSLGGDA
160 170 180 190 200
PEEPEKLCGS SDLNASMTSQ HFEEQSVPGE ASDGLSNLPS PFAYLLTIHL
210 220 230 240 250
KEGRNLVVRD RCGTSDPYVK FKLNGKTLYK SKVIYKNLNP VWDEIVVLPI
260 270 280 290 300
QSLDQKLRVK VYDRDLTTSD FMGSAFVILS DLELNRTTEH ILKLEDPNSL
310 320 330 340 350
EDDMGVIVLN LNLVVKQGDF KRHRWSNRKR LSASKSSLIR NLRLSESLKK
360 370 380 390 400
NQLWNGIISI TLLEGKNVSG GSMTEMFVQL KLGDQRYKSK TLCKSANPQW
410 420 430 440 450
QEQFDFHYFS DRMGILDIEV WGKDNKKHEE RLGTCKVDIS ALPLKQANCL
460 470 480 490 500
ELPLDSCLGA LLMLVTLTPC AGVSVSDLCV CPLADLSERK QITQRYCLQN
510 520 530 540 550
SLKDVKDVGI LQVKVLKAAD LLAADFSGKS DPFCLLELGN DRLQTHTVYK
560 570 580 590 600
NLNPEWNKVF TFPIKDIHDV LEVTVFDEDG DKPPDFLGKV AIPLLSIRDG
610 620 630 640 650
QPNCYVLKNK DLEQAFKGVI YLEMDLIYNP VKASIRTFTP REKRFVEDSR
660 670 680 690 700
KLSKKILSRD VDRVKRITMA IWNTMQFLKS CFQWESTLRS TIAFAVFLIT
710 720 730 740 750
VWNFELYMIP LALLLIFVYN FIRPVKGKVS SIQDSQESTD IDDEEDEDDK
760 770 780 790 800
ESEKKGLIER IYMVQDIVST VQNVLEEIAS FGERIKNTFN WTVPFLSSLA
810 820 830 840 850
CLILAAATII LYFIPLRYII LIWGINKFTK KLRNPYSIDN NELLDFLSRV
860 870
PSDVQKVQYA ELKLCSSHSP LRKKRSAL
Isoform 5 (identifier: Q6DN12-6) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
177-199: VPGEASDGLSNLPSPFAYLLTIH → DSQKFEMTQKFNWAHVIHIQKQT
200-878: Missing.
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketF5H415 | F5H415_HUMAN | Multiple C2 and transmembrane domai... | MCTP2 | 396 | Annotation score: |
Sequence cautioni
The sequence AAH41387 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence BAA91998 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 403 | Q → H in AAT73060 (PubMed:15528213).Curated | 1 | |
Sequence conflicti | 501 | S → P in AAT73060 (PubMed:15528213).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073421 | 46 | R → H Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61735139EnsemblClinVar. | 1 | |
Natural variantiVAR_073422 | 47 | R → H Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149133063EnsemblClinVar. | 1 | |
Natural variantiVAR_073423 | 60 | A → T Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143256791EnsemblClinVar. | 1 | |
Natural variantiVAR_073424 | 203 | G → D Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance; alters Ca(2+)-binding affinity. 1 PublicationCorresponds to variant dbSNP:rs201530723EnsemblClinVar. | 1 | |
Natural variantiVAR_073425 | 235 | Y → C Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance; alters Ca(2+)-binding affinity. 1 PublicationCorresponds to variant dbSNP:rs191271656Ensembl. | 1 | |
Natural variantiVAR_073426 | 475 | V → I Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200107854Ensembl. | 1 | |
Natural variantiVAR_073427 | 695 | A → V Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs370153540Ensembl. | 1 | |
Natural variantiVAR_033190 | 877 | A → T. Corresponds to variant dbSNP:rs34193492EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_026662 | 1 – 412 | Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST | 412 | |
Alternative sequenceiVSP_038981 | 177 – 199 | VPGEA…LLTIH → DSQKFEMTQKFNWAHVIHIQ KQT in isoform 5. 1 PublicationAdd BLAST | 23 | |
Alternative sequenceiVSP_038982 | 200 – 878 | Missing in isoform 5. 1 PublicationAdd BLAST | 679 | |
Alternative sequenceiVSP_026664 | 696 – 750 | Missing in isoform 2. 1 PublicationAdd BLAST | 55 | |
Alternative sequenceiVSP_026665 | 696 – 718 | VFLIT…LLIFV → HRKEEPPLSMKCTLFSGDIG PSL in isoform 4. 1 PublicationAdd BLAST | 23 | |
Alternative sequenceiVSP_026666 | 719 – 878 | Missing in isoform 4. 1 PublicationAdd BLAST | 160 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY656717 mRNA Translation: AAT73060.1 AK001953 mRNA Translation: BAA91998.1 Different initiation. AK002037 mRNA Translation: BAA92048.1 FJ515839 Genomic DNA Translation: ACS13731.1 FJ515839 Genomic DNA Translation: ACS13732.1 AC103749 Genomic DNA No translation available. AC135626 Genomic DNA No translation available. BC025708 mRNA Translation: AAH25708.1 BC041387 mRNA Translation: AAH41387.1 Sequence problems. BC111024 mRNA Translation: AAI11025.1 BC131527 mRNA Translation: AAI31528.1 |
CCDSi | CCDS32338.1 [Q6DN12-1] CCDS53975.1 [Q6DN12-2] CCDS53976.1 [Q6DN12-4] |
RefSeqi | NP_001153115.1, NM_001159643.1 [Q6DN12-2] NP_001153116.1, NM_001159644.1 [Q6DN12-4] NP_060819.3, NM_018349.3 [Q6DN12-1] XP_005255012.1, XM_005254955.3 XP_005255017.1, XM_005254960.2 [Q6DN12-3] XP_006720666.1, XM_006720603.2 XP_011520073.1, XM_011521771.2 XP_011520074.1, XM_011521772.2 XP_016877893.1, XM_017022404.1 [Q6DN12-2] XP_016877894.1, XM_017022405.1 [Q6DN12-2] |
Genome annotation databases
Ensembli | ENST00000357742; ENSP00000350377; ENSG00000140563 [Q6DN12-1] ENST00000451018; ENSP00000395109; ENSG00000140563 [Q6DN12-2] ENST00000456504; ENSP00000388887; ENSG00000140563 [Q6DN12-6] ENST00000557742; ENSP00000454847; ENSG00000140563 [Q6DN12-4] |
GeneIDi | 55784 |
KEGGi | hsa:55784 |
UCSCi | uc002btj.4, human [Q6DN12-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY656717 mRNA Translation: AAT73060.1 AK001953 mRNA Translation: BAA91998.1 Different initiation. AK002037 mRNA Translation: BAA92048.1 FJ515839 Genomic DNA Translation: ACS13731.1 FJ515839 Genomic DNA Translation: ACS13732.1 AC103749 Genomic DNA No translation available. AC135626 Genomic DNA No translation available. BC025708 mRNA Translation: AAH25708.1 BC041387 mRNA Translation: AAH41387.1 Sequence problems. BC111024 mRNA Translation: AAI11025.1 BC131527 mRNA Translation: AAI31528.1 |
CCDSi | CCDS32338.1 [Q6DN12-1] CCDS53975.1 [Q6DN12-2] CCDS53976.1 [Q6DN12-4] |
RefSeqi | NP_001153115.1, NM_001159643.1 [Q6DN12-2] NP_001153116.1, NM_001159644.1 [Q6DN12-4] NP_060819.3, NM_018349.3 [Q6DN12-1] XP_005255012.1, XM_005254955.3 XP_005255017.1, XM_005254960.2 [Q6DN12-3] XP_006720666.1, XM_006720603.2 XP_011520073.1, XM_011521771.2 XP_011520074.1, XM_011521772.2 XP_016877893.1, XM_017022404.1 [Q6DN12-2] XP_016877894.1, XM_017022405.1 [Q6DN12-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2EP6 | NMR | - | A | 504-629 | [»] | |
SMRi | Q6DN12 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 120898, 2 interactors |
IntActi | Q6DN12, 1 interactor |
STRINGi | 9606.ENSP00000350377 |
Protein family/group databases
TCDBi | 9.A.57.1.6, the extended-synaptotagmin (e-syt) family |
PTM databases
iPTMneti | Q6DN12 |
PhosphoSitePlusi | Q6DN12 |
Polymorphism and mutation databases
BioMutai | MCTP2 |
DMDMi | 294862501 |
Proteomic databases
EPDi | Q6DN12 |
jPOSTi | Q6DN12 |
MassIVEi | Q6DN12 |
MaxQBi | Q6DN12 |
PaxDbi | Q6DN12 |
PeptideAtlasi | Q6DN12 |
PRIDEi | Q6DN12 |
ProteomicsDBi | 66238 [Q6DN12-1] 66239 [Q6DN12-2] 66240 [Q6DN12-3] 66241 [Q6DN12-4] 66242 [Q6DN12-6] |
Protocols and materials databases
Antibodypediai | 29077, 133 antibodies |
Genome annotation databases
Ensembli | ENST00000357742; ENSP00000350377; ENSG00000140563 [Q6DN12-1] ENST00000451018; ENSP00000395109; ENSG00000140563 [Q6DN12-2] ENST00000456504; ENSP00000388887; ENSG00000140563 [Q6DN12-6] ENST00000557742; ENSP00000454847; ENSG00000140563 [Q6DN12-4] |
GeneIDi | 55784 |
KEGGi | hsa:55784 |
UCSCi | uc002btj.4, human [Q6DN12-1] |
Organism-specific databases
CTDi | 55784 |
DisGeNETi | 55784 |
EuPathDBi | HostDB:ENSG00000140563.14 |
GeneCardsi | MCTP2 |
HGNCi | HGNC:25636, MCTP2 |
HPAi | ENSG00000140563, Tissue enhanced (lymphoid) |
MalaCardsi | MCTP2 |
MIMi | 616297, gene |
neXtProti | NX_Q6DN12 |
OpenTargetsi | ENSG00000140563 |
Orphaneti | 1596, Distal monosomy 15q |
PharmGKBi | PA142671473 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1030, Eukaryota |
GeneTreei | ENSGT00940000156291 |
HOGENOMi | CLU_1371782_0_0_1 |
InParanoidi | Q6DN12 |
OMAi | QFLRSCF |
OrthoDBi | 234298at2759 |
PhylomeDBi | Q6DN12 |
TreeFami | TF323373 |
Enzyme and pathway databases
PathwayCommonsi | Q6DN12 |
Miscellaneous databases
BioGRID-ORCSi | 55784, 3 hits in 837 CRISPR screens |
ChiTaRSi | MCTP2, human |
EvolutionaryTracei | Q6DN12 |
GenomeRNAii | 55784 |
Pharosi | Q6DN12, Tbio |
PROi | PR:Q6DN12 |
RNActi | Q6DN12, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000140563, Expressed in blood and 201 other tissues |
ExpressionAtlasi | Q6DN12, baseline and differential |
Genevisiblei | Q6DN12, HS |
Family and domain databases
Gene3Di | 2.60.40.150, 3 hits |
InterProi | View protein in InterPro IPR000008, C2_dom IPR035892, C2_domain_sf IPR013583, PRibTrfase_C |
Pfami | View protein in Pfam PF00168, C2, 3 hits PF08372, PRT_C, 1 hit |
SMARTi | View protein in SMART SM00239, C2, 3 hits |
PROSITEi | View protein in PROSITE PS50004, C2, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MCTP2_HUMAN | |
Accessioni | Q6DN12Primary (citable) accession number: Q6DN12 Secondary accession number(s): A2RRC2 Q9NUW7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 10, 2007 |
Last sequence update: | April 20, 2010 | |
Last modified: | December 2, 2020 | |
This is version 131 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations