CCDC107 (coiled-coil domain containing 107)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 203260
Gene name Coiled-coil domain containing 107
Gene symbol CCDC107
Synonyms (NCBI Gene)
PSEC0222
Chromosome 9
Chromosome location 9p13.3
Summary This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
miRNA miRNA information provided by mirtarbase database.
14
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
miRTarBase ID miRNA Experiments Reference
MIRT630558 hsa-miR-5193 HITS-CLIP 23824327
MIRT630557 hsa-miR-660-3p HITS-CLIP 23824327
MIRT630556 hsa-miR-4279 HITS-CLIP 23824327
MIRT630558 hsa-miR-5193 HITS-CLIP 23824327
MIRT630557 hsa-miR-660-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WV48
Protein name Coiled-coil domain-containing protein 107
Family and domains
Sequence 
MAGAVSLLGVVGLLLVSALSGVLGDRANPDLRAHPGNAAHPGSGATEPRRRPPLKDQRER
TRAGSLPLGALYTAAVAAFVLYKCLQGKDETAVLHEEASKQQPLQSEQQLAQLTQQLAQT
EQHLNNLMAQLDPLFERVTTLAGAQQELLNMKLWTIHELLQDSKPDKDMEASEPGEGSGG
ESAGGGDKVSETGTFLISPHTEASRPLPEDFCLKEDEEEIGDSQAWEEPTNWSTETWNLA
TSWEVGRGLRRRCSQAVAKGPSHSLGWEGGTTAEGRLKQSLFS
Sequence length 283
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene miRNA Gene ontology Other IDs Protein 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 (5)
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
ANAUXETIC DYSPLASIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANAUXETIC DYSPLASIA 1 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARTILAGE-HAIR HYPOPLASIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations