ENSG00000139618


Homo sapiens

Features
Gene ID: ENSG00000139618
  
Biological name :BRCA2
  
Synonyms : BRCA2 / BRCA2, DNA repair associated / P51587
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: 1
Band: q13.1
Gene start: 32315474
Gene end: 32400266
  
Corresponding Affymetrix probe sets: 208368_s_at (Human Genome U133 Plus 2.0 Array)   214727_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000439902
Ensembl peptide - ENSP00000369497
Ensembl peptide - ENSP00000433168
Ensembl peptide - ENSP00000434898
NCBI entrez gene - 675     See in Manteia.
OMIM - 600185
RefSeq - NM_000059
RefSeq Peptide - NP_000050
swissprot - H0YD86
swissprot - H0YE37
swissprot - P51587
Ensembl - ENSG00000139618
  
Related genetic diseases (OMIM): 605724 - Fanconi anemia, complementation group D1, 605724
  194070 - Wilms tumor, 194070
  114480 - {Breast cancer, male, susceptibility to}, 114480
  612555 - {Breast-ovarian cancer, familial, 2}, 612555
  613029 - {Glioblastoma 3}, 613029
  155255 - {Medulloblastoma}, 155255
  613347 - {Pancreatic cancer 2}, 613347
  176807 - {Prostate cancer}, 176807
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 brca2ENSDARG00000079015Danio rerio
 BRCA2ENSGALG00000017073Gallus gallus
 Brca2ENSMUSG00000041147Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002093  BRCA2 repeat
 IPR012340  Nucleic acid-binding, OB-fold
 IPR015187  BRCA2, OB1
 IPR015188  BRCA2, OB3
 IPR015205  Tower domain
 IPR015252  Breast cancer type 2 susceptibility protein, helical domain
 IPR015525  Breast cancer type 2 susceptibility protein
 IPR036315  BRCA2 helical domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000281 mitotic cytokinesis IDA
 biological_processGO:0000722 telomere maintenance via recombination IEA
 biological_processGO:0000724 double-strand break repair via homologous recombination IMP
 biological_processGO:0000731 DNA synthesis involved in DNA repair TAS
 biological_processGO:0000732 strand displacement TAS
 biological_processGO:0001556 oocyte maturation IEA
 biological_processGO:0001833 inner cell mass cell proliferation IEA
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006289 nucleotide-excision repair IMP
 biological_processGO:0006302 double-strand break repair IMP
 biological_processGO:0006310 DNA recombination IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007141 male meiosis I IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007569 cell aging IEA
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0008585 female gonad development IEA
 biological_processGO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IEA
 biological_processGO:0010165 response to X-ray IEA
 biological_processGO:0010225 response to UV-C IEA
 biological_processGO:0010332 response to gamma radiation IEA
 biological_processGO:0030097 hemopoiesis IEA
 biological_processGO:0032465 regulation of cytokinesis IEA
 biological_processGO:0033600 negative regulation of mammary gland epithelial cell proliferation IDA
 biological_processGO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IEA
 biological_processGO:0043009 chordate embryonic development IEA
 biological_processGO:0043966 histone H3 acetylation IDA
 biological_processGO:0043967 histone H4 acetylation IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045931 positive regulation of mitotic cell cycle IEA
 biological_processGO:0048478 replication fork protection IEA
 biological_processGO:0051276 chromosome organization IEA
 biological_processGO:0051298 centrosome duplication IMP
 biological_processGO:0070200 establishment of protein localization to telomere IDA
 biological_processGO:1990426 mitotic recombination-dependent replication fork processing IMP
 cellular_componentGO:0000784 nuclear chromosome, telomeric region IDA
 cellular_componentGO:0000800 lateral element IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0030141 secretory granule IDA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0033593 BRCA2-MAGE-D1 complex IDA
 molecular_functionGO:0002020 protease binding IPI
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003697 single-stranded DNA binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IDA
 molecular_functionGO:0010484 H3 histone acetyltransferase activity IDA
 molecular_functionGO:0010485 H4 histone acetyltransferase activity IDA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0043015 gamma-tubulin binding IPI


Pathways (from Reactome)
Pathway description
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Presynaptic phase of homologous DNA pairing and strand exchange
Meiotic recombination


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000010 Recurrent urinary tract infections "Repeated infections of the urinary tract." [HPO:curators]
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 HP:0000027 Azoospermia 
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 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000047 Hypospadias "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators]
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 HP:0000072 Hydroureter "The distention of the ureter with urine." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000135 Hypogonadism "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators]
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
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 HP:0000238 Hydrocephalus 
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000268 Dolichocephaly 
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 HP:0000286 Epicanthus "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators]
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 HP:0000316 Hypertelorism 
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 HP:0000324 Facial asymmetry 
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 HP:0000340 Sloping forehead "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000365 Hearing loss 
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 HP:0000453 Choanal atresia "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators]
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 HP:0000483 Astigmatism 
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000520 Proptosis 
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 HP:0000526 Aniridia "Congenital absence of the iris." [HPO:curators]
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 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0000582 Upslanting palpebral fissures 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0000813 Bicornuate uterus 
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 HP:0000819 Diabetes mellitus 
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000864 Abnormality of the hypothalamus-pituitary axis 
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 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
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 HP:0000957 Cafe-au-lait spots 
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 HP:0001053 Hypopigmented skin patches 
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 HP:0001199 Triphalangeal thumb "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. The thumb normally consists of the first metacarpal and a proximal and distal phalanx. All other digits have an additional middle phalanx. This term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0001392 Abnormality of the liver 
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 HP:0001425 Heterogeneous 
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 HP:0001428 Somatic mutation 
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 HP:0001433 Hepatosplenomegaly 
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 HP:0001508 Failure to thrive 
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001537 Umbilical hernia "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators]
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 HP:0001562 Oligohydramnios 
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 HP:0001631 Atrial septal defect "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators]
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 HP:0001636 Tetralogy of Fallot "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:curators]
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 HP:0001639 Hypertrophic cardiomyopathy 
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 HP:0001643 Patent ductus arteriosus 
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 HP:0001646 Abnormality of the aortic valve "Any abnormality of the `aortic valve` (FMA:7236)." [HPO:curators]
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 HP:0001679 Abnormalities of the aorta 
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 HP:0001738 Exocrine pancreatic insufficiency 
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 HP:0001763 Pes planus "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators]
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 HP:0001770 Toe syndactyly "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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 HP:0001824 Weight loss 
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 HP:0001873 Thrombocytopenia 
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 HP:0001882 Leukopenia 
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 HP:0001945 Fever 
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002017 Nausea and vomiting 
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 HP:0002023 Anal atresia "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators]
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 HP:0002027 Abdominal pain 
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 HP:0002032 Esophageal atresia "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [HPO:curators]
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 HP:0002039 Anorexia 
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 HP:0002119 Ventriculomegaly 
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 HP:0002245 Meckel diverticulum 
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 HP:0002251 Congenital megacolon "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:curators]
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 HP:0002254 Intermittent diarrhea 
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 HP:0002414 Spina bifida "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open." [HPO:curators]
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 HP:0002575 Tracheoesophageal fistula "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002667 Nephroblastoma (Wilms tumor) "A kind of renal tumor primarily affecting children. It is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever." [HPO:curators]
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 HP:0002716 Lymphadenopathy 
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 HP:0002823 Abnormality of the femur "Abnormality of the femur (i.e., the thigh bone)." [HPO:curators]
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 HP:0002827 Dislocated hips 
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 HP:0002861 Malignant melanoma "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators]
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 HP:0002863 Myelodysplasia 
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 HP:0002894 Pancreatic cancer 
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 HP:0002896 Liver cancer 
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 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
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 HP:0003002 Breast cancer 
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 HP:0003003 Colon cancer 
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 HP:0003022 Hypoplasia of the ulna "Underdevelopment of the ulna." [HPO:curators]
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 HP:0003220 Tendency to chromosomal breakage "A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents." [HPO:curators]
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 HP:0003221 Chromosomal breakage induced by diepoxybutane (DEB), and mitomycin C 
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 HP:0003418 Back pain 
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 HP:0004209 Clinodactyly of the 5th finger "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004349 Reduced bone mineral density "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators]
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 HP:0004389 Intestinal pseudo-obstruction 
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 HP:0004396 Poor appetite 
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 HP:0004808 Acute myeloid leukemia "A form of leukemia characterized by overproduction of an early myeloid cell." [HPO:curators]
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 HP:0005249 Functional intestinal obstruction 
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 HP:0005344 Abnormality of the carotid arteries 
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 HP:0005522 Anemia, pyridoxine-responsive 
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 HP:0005528 Bone marrow hypoplasia 
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 HP:0006101 Finger syndactyly "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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 HP:0006265 Aplasia/Hypoplasia of fingers "Small/hypoplastic or absent/aplastic fingers." [HPO:curators]
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 HP:0006501 Aplasia/Hypoplasia of the radius "A small/hypoplastic or absent/aplastic radius." [HPO:curators]
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 HP:0006725 Pancreatic adenocarcinoma 
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 HP:0006727 T-cell acute lymphoblastic leukemias 
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 HP:0006824 Cranial nerve paralysis 
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 HP:0007400 Irregular hyperpigmentation 
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 HP:0007565 Multiple cafe-au-lait spots 
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 HP:0007874 Almond-shaped palpebral fissures 
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 HP:0008053 Aplasia/Hypoplasia of the iris "Absence or underdevelopment of the iris." [HPO:curators]
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 HP:0008572 External ear malformation 
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 HP:0008678 Renal hypoplasia/aplasia 
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 HP:0009778 Hypoplastic/small thumb 
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 HP:0010293 Aplasia/Hypoplasia of the uvula "Underdevelopment or absence of the uvula." [HPO:curators]
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 HP:0010469 Aplasia of the testes "Absence of the testes." [HPO:curators]
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 HP:0011027 Abnormality of the fallopian tube "An abnormality of the `fallopian tube` (FMA:18245)." [HPO:probinson]
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 HP:0012041 Decreased fertility in males 
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 HP:0012125 Prostate cancer "A cancer of the `prostate` (FMA:9600)." [HPO:probinson]
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 HP:0012334 Extrahepatic cholestasis "Impairment of bile flow due to obstruction in large bile ducts outside the liver." [HPO:probinson]
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 HP:0012432 Chronic fatigue "Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer." [ORCID:0000-0001-5208-3432]
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 HP:0012745 Short palpebral fissure "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [pmid:19125427]
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 HP:0025318 Ovarian carcinoma "A malignant neoplasm originating from the surface ovarian epithelium." []
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 HP:0030406 Primary peritoneal carcinoma "A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum." [HPO:probinson]
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 HP:0100026 Arteriovenous malformations 
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 HP:0100526 Neoplasia of the lungs 
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 HP:0100542 Abnormal localization of kidneys 
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 HP:0100587 Abnormality of the preputium 
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 HP:0100592 Peritoneal abscess "The presence of an `abscess` (MPATH:608) of the `peritoneum` (FMA:9584)." [HPO:probinson]
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 HP:0100615 Ovarian neoplasm "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson]
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 HP:0100760 Clubbing of toes "Terminal broadening of the toes (distal phalanges of the toes)." [HPO:sdoelken]
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 HP:0100867 Duodenal stenosis "The narrowing or partial blockage of a portion of the duodenum." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000111247 Q96B01 / RAD51AP1 / RAD51 associated protein 1  / complex
 ENSG00000083093 PALB2 / Q86YC2 / partner and localizer of BRCA2  / complex
 ENSG00000138376 BARD1 / Q99728 / BRCA1 associated RING domain 1  / complex
 ENSG00000149554 CHEK1 / O14757 / checkpoint kinase 1  / reaction
 ENSG00000101773 RBBP8 / Q99708 / RB binding protein 8, endonuclease  / complex
 ENSG00000012048 BRCA1 / P38398 / BRCA1, DNA repair associated  / complex
 ENSG00000051180 RAD51 / Q06609 / RAD51 recombinase  / reaction / complex






 

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