Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55784
Gene name Gene Name - the full gene name approved by the HGNC.
Multiple C2 and transmembrane domain containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MCTP2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q26.2
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616297 25636 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
VWDEIVVLPIQSLDQKLRVKVYDRDLTTSDFMGSAFVILSDLELNRTTEHILKL
EDPNSL
EDDMGVIVLNLNLVVKQGDFKRHRWSNRKRLSASKSSLIRNLRLSESLKKNQLWNGIISI
TLLEGKNVSGGSMTEMFVQLKLGDQRYKSKTLCKSANPQWQEQFDFHYFSDRMGILDIEV
WGKDNKKHEERLGTCKVDISALPLKQANCLELPL
DSCLGALLMLVTLTPCAGVSVSDLCV
CPLADLSERKQITQRYCLQNSLKDVKDVGILQVKVLKAADLLAADFSGKSDPFCLLELGN
DRLQTHTVYKNLNPEWNKVFTFPIKDIHDVLEVTVFDEDGDKPPDFLGKVAIPLLSIRDG
QPNCYVLK
NKDLEQAFKGVIYLEMDLIYNPVKASIRTFTPREKRFVEDSRKLSKKILSRD
VDRVKRITMAIWNTMQFLKSCFQWESTLRSTIAFAVFLITVWNFELYMIPLALLLIFVYN
FIRPVKGKVSSIQDSQESTDIDDEEDEDDKESEKKGLIERIYMVQDIVSTVQNVLEEIAS
FGERIKNTFNWTVPFLSSLACLILAAATIILYFIPLRYIILIWGINKFTKKLRNPYSIDN
NELLDFLSRVPSDVQKV
QYAELKLCSSHSPLRKKRSAL
Sequence length 878
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital heart defects congenital heart defects, multiple types N/A N/A GenCC
Coronary artery disease Coronary artery disease N/A N/A GWAS
Metabolic Syndrome Bitter taste perception (phenylthiocarbamide) in obesity with metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease 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