CCDC112 (coiled-coil domain containing 112)

Gene

• Entrez ID: 153733
• Gene name: Coiled-coil domain containing 112
• Gene symbol: CCDC112
• Synonyms (NCBI Gene): MBC1
• Chromosome: 5
• Chromosome location: 5q22.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018839	hsa-miR-335-5p	Microarray	18185580
MIRT1957448	hsa-miR-3143	CLIP-seq
MIRT1957449	hsa-miR-3908	CLIP-seq
MIRT1957450	hsa-miR-3942-5p	CLIP-seq
MIRT1957451	hsa-miR-4282	CLIP-seq
MIRT1957452	hsa-miR-4287	CLIP-seq
MIRT1957453	hsa-miR-4292	CLIP-seq
MIRT1957454	hsa-miR-4308	CLIP-seq
MIRT1957455	hsa-miR-4469	CLIP-seq
MIRT1957456	hsa-miR-4685-3p	CLIP-seq
MIRT1957457	hsa-miR-4703-5p	CLIP-seq
MIRT1957458	hsa-miR-4766-3p	CLIP-seq
MIRT1957459	hsa-miR-4774-5p	CLIP-seq
MIRT1957460	hsa-miR-543	CLIP-seq
MIRT1957461	hsa-miR-567	CLIP-seq
MIRT1957448	hsa-miR-3143	CLIP-seq
MIRT1957449	hsa-miR-3908	CLIP-seq
MIRT1957450	hsa-miR-3942-5p	CLIP-seq
MIRT1957457	hsa-miR-4703-5p	CLIP-seq
MIRT1957458	hsa-miR-4766-3p	CLIP-seq
MIRT1957459	hsa-miR-4774-5p	CLIP-seq
MIRT1957460	hsa-miR-543	CLIP-seq
MIRT1957461	hsa-miR-567	CLIP-seq
MIRT2385604	hsa-miR-3145-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0034451	Component	Centriolar satellite	IDA	26638075
GO:0034451	Component	Centriolar satellite	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q8NEF3
• Protein name: Coiled-coil domain-containing protein 112 (Mutated in bladder cancer protein 1)
• Sequence:

  MEKDKHSHFYNQKSDFRIEHSMLEELENKLIHSRKTERAKIQQQLAKIHNNVKKLQHQLK
  DVKPTPDFVEKLREMMEEIENAINTFKEEQRLIYEELIKEEKTTNNELSAISRKIDTWAL
  GNSETEKAFRAISSKVPVDKVTPSTLPEEVLDFEKFLQQTGGRQGAWDDYDHQNFVKVRN
  KHKGKPTFMEEVLEHLPGKTQDEVQQHEKWYQKFLALEERKKESIQIWKTKKQQKREEIF
  KLKEKADNTPVLFHNKQEDNQKQKEEQRKKQKLAVEAWKKQKSIEMSMKCASQLKEEEEK
  EKKHQKERQRQFKLKLLLESYTQQKKEQEEFLRLEKEIREKAEKAEKRKNAADEISRFQE
  RDLHKLELKILDRQAKEDEKSQKQRRLAKLKEKVENNVSRDPSRLYKPTKGWEERTKKIG
  PTGSGPLLHIPHRAIPTWRQGIQRRV

• Sequence length: 446

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
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36881382, 37309005	Associate	★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	31704365		★☆☆☆☆ Found in Text Mining only