Gene Gene information from NCBI Gene database.
Entrez ID 92922
Gene name Coiled-coil domain containing 102A
Gene symbol CCDC102A
Synonyms (NCBI Gene)
-
Chromosome 16
Chromosome location 16q21
miRNA miRNA information provided by mirtarbase database.
29
miRTarBase ID miRNA Experiments Reference
MIRT024024 hsa-miR-1-3p Proteomics 18668040
MIRT867297 hsa-miR-1253 CLIP-seq
MIRT867298 hsa-miR-185 CLIP-seq
MIRT867299 hsa-miR-3173-5p CLIP-seq
MIRT867300 hsa-miR-3192 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0016459 Component Myosin complex IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96A19
Protein name Coiled-coil domain-containing protein 102A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01576 Myosin_tail_1 312 509 Myosin tail Coiled-coil
Sequence
MSHGPSPRLAESPQLSKGSLLTILGSPSPERMGPADSLPPTPPSGTPSPGPPPALPLPPA
PALLADGDWESREELRLRELEEARARAAQMEKTMRRWSDCTANWREKWSKVRAERNRARE
EVRQLRQRLDALTKELAGARRERQEAQGECEARGRELARLRGARGVADQTRDGPEPEAER
EPVRDVGSERPPGSQELELVESLLKSMPEESEDCWEARSLGAGGPRGSSGRQERSRLPWE
DTAATEEEASKLTALRLRLDESQKVLLKEREDKLALSRNIEKLEGELSQWKIKYEELSKT
KQEMLKQLSILKEAHQDELGRMSEDLEDELGARSSMDRKMAELRGEMERLQAENAAEWGR
RERLETEKLGLERENKKLRAQVGDLEEALARRRRQTASALDCDLRASQAALFEKNKELAD
LKHVHGKLKKQFQEKVAELAHANRRVEQHEAEVKKLRLRVEELKKELAQAEDELDEAHNQ
ARKLQRSLDEQTEQSENLQVQLEHLQSRL
RRQQQNAPLFGKIRSARFGTEEAEDGTSDLD
EDEDLQIQVA
Sequence length 550
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS TYPE 2 ASSOCIATED CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Psoriasis Psoriasis Pubtator 39344312 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations