Human Gene CCAR2 (ENST00000308511.9_4) from GENCODE V47lift37
  Description: cell cycle and apoptosis regulator 2, transcript variant 2 (from RefSeq NM_001393997.1)
Gencode Transcript: ENST00000308511.9_4
Gencode Gene: ENSG00000158941.17_12
Transcript (Including UTRs)
   Position: hg19 chr8:22,462,270-22,477,984 Size: 15,715 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr8:22,463,287-22,477,195 Size: 13,909 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:22,462,270-22,477,984)mRNA (may differ from genome)Protein (923 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsMalacards
MGIPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: K1967_HUMAN
DESCRIPTION: RecName: Full=DBIRD complex subunit KIAA1967; AltName: Full=Deleted in breast cancer gene 1 protein; Short=DBC-1; Short=DBC.1; AltName: Full=p30 DBC;
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 affects local transcript elongation rates and alternative splicing of a large set of exons embedded in (A + T)-rich DNA regions. Inhibits SIRT1 deacetylase activity leading to increasing levels of p53/TP53 acetylation and p53-mediated apoptosis. Inhibits SUV39H1 methyltransferase activity.
SUBUNIT: Component of the DBIRD complex. Interacts with ZNF326/ZIRD; the interaction is direct. Interacts (via N-terminus) with SIRT1. Interacts (via N-terminus) with SUV39H1; this interaction abolishes the interaction with SIRT1.
INTERACTION: P01106:MYC; NbExp=8; IntAct=EBI-355410, EBI-447544; Q9Q2G4:ORF (xeno); NbExp=5; IntAct=EBI-355410, EBI-6248094; Q96EB6:SIRT1; NbExp=9; IntAct=EBI-355410, EBI-1802965;
SUBCELLULAR LOCATION: Nucleus (Probable).
TISSUE SPECIFICITY: Expressed ubiquitously in normal tissues. Expressed in 84 to 100% of neoplastic breast, lung, and colon tissues.
SEQUENCE CAUTION: Sequence=AAG02472.1; Type=Frameshift; Positions=610, 622, 794, 810; Sequence=BAB85553.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CCAR2
Diseases sorted by gene-association score: estrogen-receptor negative breast cancer (8)

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.46 RPKM in Testis
Total median expression: 887.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -47.30124-0.381 Picture PostScript Text
3' UTR -292.60789-0.371 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025224 - DBC1/CARP1
IPR025954 - DBC1/CARP1_inactive_NUDIX_dom
IPR025223 - S1-like_RNA-bd_dom

Pfam Domains:
PF14443 - DBC1
PF14444 - S1-like
PF19256 - LAIKA domain
PF19257 - BURAN domain

SCOP Domains:
47473 - EF-hand
90257 - Myosin rod fragments
57997 - Tropomyosin

ModBase Predicted Comparative 3D Structure on Q8N163
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000993 RNA polymerase II core binding
GO:0003723 RNA binding
GO:0004857 enzyme inhibitor activity
GO:0005515 protein binding
GO:0019899 enzyme binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006397 mRNA processing
GO:0006915 apoptotic process
GO:0006974 cellular response to DNA damage stimulus
GO:0007049 cell cycle
GO:0008380 RNA splicing
GO:0009411 response to UV
GO:0016055 Wnt signaling pathway
GO:0030308 negative regulation of cell growth
GO:0031647 regulation of protein stability
GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032784 regulation of DNA-templated transcription, elongation
GO:0042752 regulation of circadian rhythm
GO:0043065 positive regulation of apoptotic process
GO:0043086 negative regulation of catalytic activity
GO:0043653 mitochondrial fragmentation involved in apoptotic process
GO:0045892 negative regulation of transcription, DNA-templated
GO:0048511 rhythmic process
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:0090311 regulation of protein deacetylation
GO:1900034 regulation of cellular response to heat
GO:1902230 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage
GO:2000003 positive regulation of DNA damage checkpoint

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005759 mitochondrial matrix
GO:0044609 DBIRD complex
GO:0005681 spliceosomal complex


-  Descriptions from all associated GenBank mRNAs
  LF210144 - JP 2014500723-A/17647: Polycomb-Associated Non-Coding RNAs.
AK314535 - Homo sapiens cDNA, FLJ95357, Homo sapiens p30 DBC protein (DBC-1), mRNA.
BX640952 - Homo sapiens mRNA; cDNA DKFZp686E20132 (from clone DKFZp686E20132).
BC065495 - Homo sapiens KIAA1967, mRNA (cDNA clone MGC:74489 IMAGE:5496068), complete cds.
AK095712 - Homo sapiens cDNA FLJ38393 fis, clone FEBRA2007212.
LF335086 - JP 2014500723-A/142589: Polycomb-Associated Non-Coding RNAs.
AL834162 - Homo sapiens mRNA; cDNA DKFZp761M0817 (from clone DKFZp761M0817).
AL834352 - Homo sapiens mRNA; cDNA DKFZp761O0817 (from clone DKFZp761O0817).
AL834351 - Homo sapiens mRNA; cDNA DKFZp761I2217 (from clone DKFZp761I2217).
JD234694 - Sequence 215718 from Patent EP1572962.
AM392706 - Synthetic construct Homo sapiens clone IMAGE:100002413 for hypothetical protein (KIAA1967 gene).
AM393823 - Synthetic construct Homo sapiens clone IMAGE:100001981 for hypothetical protein (KIAA1967 gene).
AB075847 - Homo sapiens mRNA for KIAA1967 protein.
AK096547 - Homo sapiens cDNA FLJ39228 fis, clone OCBBF2007354.
AF293335 - Homo sapiens p30 DBC mRNA, complete cds.
BC018269 - Homo sapiens KIAA1967, mRNA (cDNA clone IMAGE:3451350), partial cds.
JD471767 - Sequence 452791 from Patent EP1572962.
AK022661 - Homo sapiens cDNA FLJ12599 fis, clone NT2RM4001410.
KJ903012 - Synthetic construct Homo sapiens clone ccsbBroadEn_12406 KIAA1967 gene, encodes complete protein.
AL137523 - Homo sapiens mRNA; cDNA DKFZp434G1518 (from clone DKFZp434G1518).
JD057517 - Sequence 38541 from Patent EP1572962.
JD191988 - Sequence 173012 from Patent EP1572962.
JD187373 - Sequence 168397 from Patent EP1572962.
JD220516 - Sequence 201540 from Patent EP1572962.
JD475070 - Sequence 456094 from Patent EP1572962.
JD507073 - Sequence 488097 from Patent EP1572962.
JD403451 - Sequence 384475 from Patent EP1572962.
JD552452 - Sequence 533476 from Patent EP1572962.
JD262437 - Sequence 243461 from Patent EP1572962.
JD272304 - Sequence 253328 from Patent EP1572962.
JD215483 - Sequence 196507 from Patent EP1572962.
JD214126 - Sequence 195150 from Patent EP1572962.
JD370035 - Sequence 351059 from Patent EP1572962.
JD427863 - Sequence 408887 from Patent EP1572962.
JD209998 - Sequence 191022 from Patent EP1572962.
MA445721 - JP 2018138019-A/17647: Polycomb-Associated Non-Coding RNAs.
MA570663 - JP 2018138019-A/142589: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8N163 (Reactome details) participates in the following event(s):

R-HSA-3371567 DBC1 is phosphorylated by ATM/ART
R-HSA-3371537 DBC1 binds SIRT1
R-HSA-3371453 Regulation of HSF1-mediated heat shock response
R-HSA-3371556 Cellular response to heat stress
R-HSA-2262752 Cellular responses to stress
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: A6NL03, B2RB79, CCAR2_HUMAN, D3DSR6, DBC1, ENST00000308511.1, ENST00000308511.2, ENST00000308511.3, ENST00000308511.4, ENST00000308511.5, ENST00000308511.6, ENST00000308511.7, ENST00000308511.8, KIAA1967, NM_001393997, Q6P0Q9, Q8N163, Q8N3G7, Q8N8M1, Q8TF34, Q9H9Q9, Q9HD12, Q9NT55, uc317oid.1, uc317oid.2
UCSC ID: ENST00000308511.9_4
RefSeq Accession: NM_001393997.1
Protein: Q8N163 (aka K1967_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.