CCDC78 (coiled-coil domain containing 78)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
124093
Gene name Gene Name - the full gene name approved by the HGNC.
Coiled-coil domain containing 78
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CCDC78
Synonyms (NCBI Gene) Gene synonyms aliases
C16orf25, CNM4, JFP10, hsCCDC78
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CNM4
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs148595483 G>A,T Conflicting-interpretations-of-pathogenicity Missense variant, genic upstream transcript variant, synonymous variant, non coding transcript variant, intron variant, upstream transcript variant, coding sequence variant
rs200865845 G>A Likely-pathogenic Missense variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT869851 hsa-miR-1202 CLIP-seq
MIRT869852 hsa-miR-3130-3p CLIP-seq
MIRT869853 hsa-miR-3180-5p CLIP-seq
MIRT869854 hsa-miR-3194-5p CLIP-seq
MIRT869855 hsa-miR-331-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0003009 Process Skeletal muscle contraction IMP 22818856
GO:0005814 Component Centriole IDA 24075808
GO:0016529 Component Sarcoplasmic reticulum IDA 22818856
GO:0030030 Process Cell projection organization IEA
GO:0042383 Component Sarcolemma IDA 22818856
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614666 14153 ENSG00000162004
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID A2IDD5
Protein name Coiled-coil domain-containing protein 78 (hsCCDC78)
Protein function Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multicili
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14739 DUF4472 54 → 165 Domain of unknown function (DUF4472) Family
Tissue specificity TISSUE SPECIFICITY: Expressed primarily in skeletal muscle. {ECO:0000269|PubMed:22818856}.
Sequence 
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQ
ISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPR
HPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQ
QALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK
DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYH
KRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLS
SPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWSGPRWLKSNF
LSYRSTWTSTWAGTSTKS
Sequence length 438
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Centronuclear myopathy Centronuclear myopathy, Autosomal Recessive Centronuclear Myopathy, Autosomal Dominant Myotubular Myopathy rs80356529, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs132630304, rs587783791, rs397518445, rs132630306, rs122458143, rs587783594, rs587783595, rs587783597, rs587783598
View all (25 more)		 22818856, 25635128
Congenital myopathy with fiber type disproportion Congenital Fiber Type Disproportion rs121908184, rs121908188, rs121964853, rs121964854, rs121909529, rs121909531, rs367543058, rs118192117, rs143849895, rs367543055, rs367543049, rs367543048, rs118192178, rs193922810, rs587783772
View all (11 more)
Myopathy Myopathy, Centronuclear, Autosomal Dominant, MYOPATHY, CENTRONUCLEAR, 4, Myopathy, Centronuclear, 1 rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166
View all (81 more)		 22818856
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Congenital myopathy with internal nuclei and atypical cores Congenital myopathy with internal nuclei and atypical cores ClinVar
Centronuclear Myopathy centronuclear myopathy GenCC
Show/Hide Text Mining Associations (3)
Associations from Text Mining
Disease Name Relationship Type References
Colorectal Neoplasms Associate 31612869
Myopathies Structural Congenital Associate 39273074
Neoplastic Syndromes Hereditary Associate 39273074