Gene Gene information from NCBI Gene database.
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 miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616297 25636 ENSG00000140563
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
VWDEIVVLPIQSLDQKLRVKVYDRDLTTSDFMGSAFVILSDLELNRTTEHILKL
EDPNSL
EDDMGVIVLNLNLVVKQGDFKRHRWSNRKRLSASKSSLIRNLRLSESLKKNQLWNGIISI
TLLEGKNVSGGSMTEMFVQLKLGDQRYKSKTLCKSANPQWQEQFDFHYFSDRMGILDIEV
WGKDNKKHEERLGTCKVDISALPLKQANCLELPL
DSCLGALLMLVTLTPCAGVSVSDLCV
CPLADLSERKQITQRYCLQNSLKDVKDVGILQVKVLKAADLLAADFSGKSDPFCLLELGN
DRLQTHTVYKNLNPEWNKVFTFPIKDIHDVLEVTVFDEDGDKPPDFLGKVAIPLLSIRDG
QPNCYVLK
NKDLEQAFKGVIYLEMDLIYNPVKASIRTFTPREKRFVEDSRKLSKKILSRD
VDRVKRITMAIWNTMQFLKSCFQWESTLRSTIAFAVFLITVWNFELYMIPLALLLIFVYN
FIRPVKGKVSSIQDSQESTDIDDEEDEDDKESEKKGLIERIYMVQDIVSTVQNVLEEIAS
FGERIKNTFNWTVPFLSSLACLILAAATIILYFIPLRYIILIWGINKFTKKLRNPYSIDN
NELLDFLSRVPSDVQKV
QYAELKLCSSHSPLRKKRSAL
Sequence length 878
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
45
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Benign rs149237812, rs79112132 RCV005938795
RCV005935546
Clear cell carcinoma of kidney Benign rs79112132 RCV005935548
Colon adenocarcinoma Likely benign rs140648009 RCV005904547
Familial cancer of breast Likely benign rs149237812 RCV005938794
Associations from Text MiningDisease associations identified through Pubtator
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