CCDC102B (coiled-coil domain containing 102B)

Gene

• Entrez ID: 79839
• Gene name: Coiled-coil domain containing 102B
• Gene symbol: CCDC102B
• Synonyms (NCBI Gene): ACY1L, AN, C18orf14, HsT1731
• Chromosome: 18
• Chromosome location: 18q22.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022256	hsa-miR-124-3p	Microarray	18668037
MIRT867307	hsa-miR-3148	CLIP-seq
MIRT867308	hsa-miR-331-5p	CLIP-seq
MIRT867309	hsa-miR-3647-3p	CLIP-seq
MIRT867310	hsa-miR-3688-3p	CLIP-seq
MIRT867311	hsa-miR-4678	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 29892012, 30404835, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005814	Component	Centriole	IDA	30404835
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0010457	Process	Centriole-centriole cohesion	IMP	30404835
GO:0120283	Function	Protein serine/threonine kinase binding	IPI	30404835

Other IDs

• MIM: 621147
• HGNC: 26295
• e!Ensembl: ENSG00000150636

Protein

• UniProt ID: Q68D86
• Protein name: Coiled-coil domain-containing protein 102B
• Protein function: During interphase, forms fibers at the proximal ends of centrioles to maintain centrosome cohesion (PubMed:30404835). During mitosis, dissociates from the centrosome following phosphorylation to allow centrosome separation (PubMed:30404835). Con
• Sequence:

  MNLDSIHRLIEETQIFQMQQSSIKSRGDMVAPASPPRDTCNTCFPLHGLQSHAAHNFCAH
  SYNTNKWDICEELRLRELEEVKARAAQMEKTMRWWSDCTANWREKWSKVRAERNSAREEG
  RQLRIKLEMAMKELSTLKKKQSLPPQKEALEAKVTQDLKLPGFVEESCEHTDQFQLSSQM
  HESIREYLVKRQFSTKEDTNNKEQGVVIDSLKLSEEMKPNLDGVDLFNNGGSGNGETKTG
  LRLKAINLPLENEVTEISALQVHLDEFQKILWKEREMRTALEKEIERLESALSLWKWKYE
  ELKESKPKNVKEFDILLGQHNDEMQELSGNIKEESKSQNSKDRVICELRAELERLQAENT
  SEWDKREILEREKQGLERENRRLKIQVKEMEELLDKKNRLSANSQSPDFKMSQIDLQEKN
  QELLNLQHAYYKLNRQYQANIAELTHANNRVDQNEAEVKKLRLRVEELKQGLNQKEDELD
  DSLNQIRKLQRSLDEEKERNENLETELRHLQNW

• Sequence length: 513

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM OF ADRENAL GLAND	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	29064472		★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	29725004	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36936167	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASDB_DG	23422753		★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	29725004		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	29725004	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	29725004		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29725004	Associate	★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	GWASCAT_DG	29064472		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	29064472		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	29725004		★☆☆☆☆ Found in Text Mining only