CCAR2 (cell cycle and apoptosis regulator 2)

Gene

• Entrez ID: 57805
• Gene name: Cell cycle and apoptosis regulator 2
• Gene symbol: CCAR2
• Synonyms (NCBI Gene): DBC-1, DBC1, KIAA1967, NET35, p30 DBC, p30DBC
• Chromosome: 8
• Chromosome location: 8p21.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT742416	hsa-miR-548ac	HITS-CLIP	23824327
MIRT742417	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT742418	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT742419	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT742420	hsa-miR-548z	HITS-CLIP	23824327
MIRT742421	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT742422	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT742423	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT742424	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT742425	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT742426	hsa-miR-6083	HITS-CLIP	23824327

Transcription factors

Transcription factor	Regulation	Reference
SIRT1	Repression	23892437

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000774	Function	Adenyl-nucleotide exchange factor activity	IBA
GO:0000785	Component	Chromatin	IDA	23352644
GO:0000993	Function	RNA polymerase II complex binding	IDA	22446626
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0004857	Function	Enzyme inhibitor activity	IDA	18235501, 18235502
GO:0004857	Function	Enzyme inhibitor activity	IEA
GO:0004857	Function	Enzyme inhibitor activity	IMP	19218236
GO:0005515	Function	Protein binding	IPI	17314511, 18235501, 18235502, 19131338, 20074560, 20160719, 21030595, 22190034, 22446626, 23398316, 24824780, 25661920, 32814053
GO:0005634	Component	Nucleus	IDA	15824730, 18445686, 20074560, 20160719, 24824780, 25661920
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	15824730, 20160719, 24824780
GO:0005737	Component	Cytoplasm	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	15824730
GO:0005819	Component	Spindle	IDA	18445686
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	IMP	22446626
GO:0009411	Process	Response to UV	IMP	23352644
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0019899	Function	Enzyme binding	IPI	18235501, 19218236, 23382074
GO:0030308	Process	Negative regulation of cell growth	IMP	25661920
GO:0031647	Process	Regulation of protein stability	IDA	23398316
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	23398316
GO:0032784	Process	Regulation of DNA-templated transcription elongation	IMP	22446626
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0043065	Process	Positive regulation of apoptotic process	IMP	18235501, 18235502
GO:0043086	Process	Negative regulation of catalytic activity	IMP	21030595
GO:0043653	Process	Mitochondrial fragmentation involved in apoptotic process	IDA	15824730
GO:0044609	Component	DBIRD complex	IDA	22446626
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	20160719
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	20074560, 25661920
GO:0048511	Process	Rhythmic process	IEA
GO:0051082	Function	Unfolded protein binding	IBA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IMP	24824780
GO:0090311	Process	Regulation of protein deacetylation	IDA	21030595
GO:1902230	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IMP	23352644
GO:2000003	Process	Positive regulation of DNA damage checkpoint	IMP	23352644

Other IDs

• MIM: 607359
• HGNC: 23360
• e!Ensembl: ENSG00000158941

Protein

• UniProt ID: Q8N163
• Protein name: Cell cycle and apoptosis regulator protein 2 (Cell division cycle and apoptosis regulator protein 2) (DBIRD complex subunit KIAA1967) (Deleted in breast cancer gene 1 protein) (DBC-1) (DBC.1) (NET35) (p30 DBC)
• Protein function: Core component of the DBIRD complex, a multiprotein complex that acts at the interface between core mRNP particles and RNA polymerase II (RNAPII) and integrates transcript elongation with the regulation of alternative splicing: the DBIRD complex
• PDB: 8EZ6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14444	S1-like	55 → 112	S1-like	Domain
  PF14443	DBC1	340 → 457	DBC1	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in gastric carcinoma tissue and the expression gradually increases with the progression of the carcinoma (at protein level). Expressed ubiquitously in normal tissues. Expressed in 84 to 100% of neoplastic breast, lung, and co
• Sequence:

  MSQFKRQRINPLPGGRNFSGTASTSLLGPPPGLLTPPVATELSQNARHLQGGEKQRVFTG
  IVTSLHDYFGVVDEEVFFQLSVVKGRLPQLGEKVLVKAAYNPGQAVPWNAVKVQTLSNQP
  LLKSPAPPLLHVAALGQKQGILGAQPQLIFQPHRIPPLFPQKPLSLFQTSHTLHLSHLNR
  FPARGPHGRLDQGRSDDYDSKKRKQRAGGEPWGAKKPRHDLPPYRVHLTPYTVDSPICDF
  LELQRRYRSLLVPSDFLSVHLSWLSAFPLSQPFSLHHPSRIQVSSEKEAAPDAGAEPITA
  DSDPAYSSKVLLLSSPGLEELYRCCMLFVDDMAEPRETPEHPLKQIKFLLGRKEEEAVLV
  GGEWSPSLDGLDPQADPQVLVRTAIRCAQAQTGIDLSGCTKWWRFAEFQYLQPGPPRRLQ
  TVVVYLPDVWTIMPTLEEWEALCQQKAAEAAPPTQEAQGETEPTEQAPDALEQAADTSRR
  NAETPEATTQQETDTDLPEAPPPPLEPAVIARPGCVNLSLHGIVEDRRPKERISFEVMVL
  AELFLEMLQRDFGYRVYKMLLSLPEKVVSPPEPEKEEAAKEEATKEEEAIKEEVVKEPKD
  EAQNEGPATESEAPLKEDGLLPKPLSSGGEEEEKPRGEASEDLCEMALDPELLLLRDDGE
  EEFAGAKLEDSEVRSVASNQSEMEFSSLQDMPKELDPSAVLPLDCLLAFVFFDANWCGYL
  HRRDLERILLTLGIRLSAEQAKQLVSRVVTQNICQYRSLQYSRQEGLDGGLPEEVLFGNL
  DLLPPPGKSTKPGAAPTEHKALVSHNGSLINVGSLLQRAEQQDSGRLYLENKIHTLELKL
  EESHNRFSATEVTNKTLAAEMQELRVRLAEAEETARTAERQKSQLQRLLQELRRRLTPLQ
  LEIQRVVEKADSWVEKEEPAPSN

• Sequence length: 923

Pathways

KEGG:

Wnt signaling pathway

Reactome:

Regulation of HSF1-mediated heat shock response

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
CCAR2-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WALLERIAN DEGENERATION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma of Lung	Associate	19649206	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	20160719, 20205715, 20412117, 21596782, 23588592, 26617872, 30597111, 33809336, 35913115	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Inhibit	24126058	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	20160719, 26249023, 26657080, 30893604, 34921839, 35913115	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Inhibit	20412117, 26617872	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	25085583	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Associate	19649206	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	30082743, 35801925	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Inhibit	27904654	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Associate	26617872	★☆☆☆☆ Found in Text Mining only
Hypopharyngeal Neoplasms	Associate	23805287	★☆☆☆☆ Found in Text Mining only
Hypoxia	Associate	35913115	★☆☆☆☆ Found in Text Mining only
Hypoxia Brain	Associate	35913115	★☆☆☆☆ Found in Text Mining only
Leukemia Lymphocytic Chronic B Cell	Associate	18264085	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	20808941	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Inhibit	23805287	★☆☆☆☆ Found in Text Mining only
Lymphoma	Associate	18264085	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Associate	18264085	★☆☆☆☆ Found in Text Mining only
Lymphoma Large B Cell Diffuse	Associate	18264085	★☆☆☆☆ Found in Text Mining only
Lymphoma Mantle Cell	Associate	18264085	★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Associate	18264085	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Associate	18366677	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	24019980	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	16846474, 18264085, 19649206, 19750229, 20160719, 20412117, 22815913, 23588592, 23805287, 24019980, 25823848, 26657080, 27809307, 30082743, 30609639, 30893604, 34921839, 36567509	★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	26617872	★☆☆☆☆ Found in Text Mining only
Neoplasms Cystic Mucinous and Serous	Stimulate	25823848	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Associate	30609639	★☆☆☆☆ Found in Text Mining only
Non alcoholic Fatty Liver Disease	Associate	38533551	★☆☆☆☆ Found in Text Mining only
Obesity	Associate	38533551	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	26249023	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	25823848	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	18264085	★☆☆☆☆ Found in Text Mining only
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Inhibit	16846474	★☆☆☆☆ Found in Text Mining only
Sarcoma	Associate	24019980	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	23805287	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	25146318	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	21586619, 36567509	★☆☆☆☆ Found in Text Mining only