CCDC12 (coiled-coil domain containing 12)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 151903
Gene name Coiled-coil domain containing 12
Gene symbol CCDC12
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3p21.31
miRNA miRNA information provided by mirtarbase database.
5
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT043621 hsa-miR-326 CLASH 23622248
MIRT1957506 hsa-miR-299-5p CLIP-seq
MIRT1957507 hsa-miR-4786-3p CLIP-seq
MIRT1957508 hsa-miR-629 CLIP-seq
MIRT1957509 hsa-miR-767-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20562859, 22365833, 32296183, 33961781
GO:0005654 Component Nucleoplasm TAS
GO:0005684 Component U2-type spliceosomal complex IBA
GO:0071014 Component Post-mRNA release spliceosomal complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WUD4
Protein name Coiled-coil domain-containing protein 12
PDB 8RO2 , 9FMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08315 cwf18 10 → 143 cwf18 pre-mRNA splicing factor Family
Sequence
Sequence length 166
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Spliceosome  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GRAY PLATELET SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colonic Neoplasms Colonic neoplasm Pubtator 35217636 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 27120998, 35217636 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only