C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: breast cancer 2, early onset
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000139618 BRCA2 9606 + 13:32315474-32400266 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000380152 BRCA2-001 32315474-32400266 protein_coding
  ENST00000470094 BRCA2-002 32379840-32398272 nonsense_mediated_decay
  ENST00000528762 BRCA2-005 32370971-32379495 nonsense_mediated_decay
  ENST00000530893 BRCA2-003 32315505-32333291 processed_transcript
  ENST00000533776 BRCA2-006 32396809-32398448 retained_intron
  ENST00000544455 BRCA2-201 32315480-32399668 protein_coding
  ENST00000614259 BRCA2-004 32316461-32362659 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeBladderBrainBreastColonHeartKidneyLiverMuscleOvaryPlacentaTestisENST00000380152ENST00000470094ENST00000528762ENST00000530893ENST00000533776ENST00000544455ENST00000614259
Transcript ID Adipose Bladder Brain Breast Colon Heart Kidney Liver Muscle Ovary Placenta Testis
ENST00000380152 0.081±0.00 N/A N/A 0.331±0.25 0.249±0.21 0.014±0.01 N/A 0.013±0.00 N/A 0.762±0.87 0.163±0.13 0.531±0.23
ENST00000470094 N/A N/A N/A N/A N/A 0.093±0.00 N/A 0.131±0.00 N/A N/A N/A N/A
ENST00000528762 N/A N/A 0.487±0.00 N/A N/A N/A N/A 0.179±0.00 N/A 11.161±0.00 2.459±0.00 6.320±0.00
ENST00000530893 N/A 0.164±0.00 N/A N/A 0.475±0.00 N/A 0.305±0.00 0.085±0.00 N/A N/A N/A N/A
ENST00000533776 N/A N/A N/A N/A N/A 0.159±0.00 N/A N/A N/A N/A N/A N/A
ENST00000544455 N/A 0.037±0.00 N/A N/A N/A N/A 0.058±0.04 0.043±0.00 N/A 1.145±0.00 N/A 0.479±0.00
ENST00000614259 N/A N/A 0.017±0.00 0.145±0.00 0.198±0.00 N/A N/A 0.095±0.00 0.020±0.00 2.196±0.00 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0000V0 CIL_0000V0_0001 CGP 13:32303700-32400266
CIL_0000UZ CIL_0000UZ_0001 CGP 13:32315474-32428178

Gene Ontology

GO IDEvidence TypeGO Description
GO:0000724 IDA:IEA double-strand break repair via homologous recombination
GO:0000910 IDA cytokinesis
GO:0001556 IEA oocyte maturation
GO:0001833 IEA inner cell mass cell proliferation
GO:0002020 IPI protease binding
GO:0003697 IDA single-stranded DNA binding
GO:0005515 IPI protein binding
GO:0005634 IDA nucleus
GO:0005654 TAS nucleoplasm
GO:0005737 IDA cytoplasm
GO:0005813 IDA centrosome
GO:0006281 TAS:IEA DNA repair
GO:0006289 IMP nucleotide-excision repair
GO:0006302 IMP double-strand break repair
GO:0006974 IEA cellular response to DNA damage stimulus
GO:0006978 IEA DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
GO:0007141 IEA male meiosis I
GO:0007283 IEA spermatogenesis
GO:0007420 IEA brain development
GO:0007569 IEA cell aging
GO:0008283 IEA cell proliferation
GO:0008585 IEA female gonad development
GO:0008630 IEA intrinsic apoptotic signaling pathway in response to DNA damage
GO:0010165 IEA response to X-ray
GO:0010225 IEA response to UV-C
GO:0010332 IEA response to gamma radiation
GO:0010484 IDA H3 histone acetyltransferase activity
GO:0010485 IDA H4 histone acetyltransferase activity
GO:0030097 IEA hemopoiesis
GO:0030141 IDA secretory granule
GO:0032465 IEA regulation of cytokinesis
GO:0033593 IDA BRCA2-MAGE-D1 complex
GO:0033600 IDA negative regulation of mammary gland epithelial cell proliferation
GO:0042771 IEA intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
GO:0043009 IEA chordate embryonic development
GO:0043015 IPI gamma-tubulin binding
GO:0043234 IDA protein complex
GO:0043966 IDA histone H3 acetylation
GO:0043967 IDA histone H4 acetylation
GO:0045893 IDA positive regulation of transcription, DNA-templated
GO:0045931 IEA positive regulation of mitotic cell cycle
GO:0048478 IEA replication fork protection
GO:0051276 IEA chromosome organization
GO:0051298 IMP centrosome duplication

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000079015 brca2 breast cancer 2, early onset protein_coding Danio_rerio
ENSMUSG00000041147 Brca2 breast cancer 2 protein_coding Mus_musculus

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