I. Expression across cell types
Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| hematopoietic precursor cell | 3 studies | 19% ± 2% | |
| transit amplifying cell | 3 studies | 41% ± 20% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| hematopoietic precursor cell | 3 studies | 19% ± 2% | |
| transit amplifying cell | 3 studies | 41% ± 20% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| liver | 3 studies | 18% ± 1% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| lung | 99% | 263.59 | 572 / 578 | 90% | 3.19 | 1041 / 1155 |
| breast | 97% | 152.00 | 445 / 459 | 92% | 3.61 | 1027 / 1118 |
| uterus | 92% | 88.43 | 156 / 170 | 97% | 4.52 | 443 / 459 |
| bladder | 90% | 83.67 | 19 / 21 | 92% | 3.97 | 464 / 504 |
| stomach | 85% | 139.42 | 305 / 359 | 97% | 5.34 | 276 / 286 |
| intestine | 85% | 172.52 | 819 / 966 | 95% | 4.87 | 502 / 527 |
| skin | 100% | 553.30 | 1800 / 1809 | 81% | 2.95 | 380 / 472 |
| esophagus | 74% | 153.87 | 1076 / 1445 | 100% | 7.70 | 183 / 183 |
| ovary | 93% | 100.54 | 167 / 180 | 76% | 1.80 | 327 / 430 |
| pancreas | 77% | 69.33 | 253 / 328 | 71% | 1.91 | 127 / 178 |
| thymus | 83% | 77.42 | 544 / 653 | 38% | 0.82 | 230 / 605 |
| liver | 80% | 100.02 | 181 / 226 | 29% | 0.56 | 117 / 406 |
| spleen | 100% | 445.11 | 241 / 241 | 0% | 0 | 0 / 0 |
| adipose | 98% | 175.13 | 1180 / 1204 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 98% | 6.37 | 44 / 45 |
| lymph node | 0% | 0 | 0 / 0 | 97% | 4.27 | 28 / 29 |
| prostate | 84% | 82.42 | 206 / 245 | 10% | 0.17 | 51 / 502 |
| blood vessel | 92% | 118.33 | 1229 / 1335 | 0% | 0 | 0 / 0 |
| adrenal gland | 72% | 67.40 | 187 / 258 | 13% | 0.27 | 31 / 230 |
| kidney | 43% | 50.22 | 38 / 89 | 42% | 0.80 | 381 / 901 |
| peripheral blood | 84% | 834.78 | 776 / 929 | 0% | 0 | 0 / 0 |
| brain | 28% | 16.39 | 750 / 2642 | 41% | 0.98 | 291 / 705 |
| heart | 33% | 23.98 | 283 / 861 | 0% | 0 | 0 / 0 |
| muscle | 12% | 7.28 | 98 / 803 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 8% | 0.10 | 6 / 80 |
| abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| ureter | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 1 |
| GO_0007283 | Biological process | spermatogenesis |
| GO_1990426 | Biological process | mitotic recombination-dependent replication fork processing |
| GO_0010165 | Biological process | response to X-ray |
| GO_0010332 | Biological process | response to gamma radiation |
| GO_0006302 | Biological process | double-strand break repair |
| GO_0051298 | Biological process | centrosome duplication |
| GO_0006289 | Biological process | nucleotide-excision repair |
| GO_0001833 | Biological process | inner cell mass cell proliferation |
| GO_0010225 | Biological process | response to UV-C |
| GO_0006978 | Biological process | DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator |
| GO_0042771 | Biological process | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator |
| GO_0000722 | Biological process | telomere maintenance via recombination |
| GO_0071425 | Biological process | hematopoietic stem cell proliferation |
| GO_0006338 | Biological process | chromatin remodeling |
| GO_0007141 | Biological process | male meiosis I |
| GO_0033600 | Biological process | negative regulation of mammary gland epithelial cell proliferation |
| GO_0001556 | Biological process | oocyte maturation |
| GO_0000724 | Biological process | double-strand break repair via homologous recombination |
| GO_0045931 | Biological process | positive regulation of mitotic cell cycle |
| GO_0045893 | Biological process | positive regulation of DNA-templated transcription |
| GO_0006355 | Biological process | regulation of DNA-templated transcription |
| GO_0007420 | Biological process | brain development |
| GO_0090398 | Biological process | cellular senescence |
| GO_0070200 | Biological process | establishment of protein localization to telomere |
| GO_2000001 | Biological process | regulation of DNA damage checkpoint |
| GO_0071479 | Biological process | cellular response to ionizing radiation |
| GO_0008585 | Biological process | female gonad development |
| GO_0032465 | Biological process | regulation of cytokinesis |
| GO_0005813 | Cellular component | centrosome |
| GO_0032991 | Cellular component | protein-containing complex |
| GO_0005654 | Cellular component | nucleoplasm |
| GO_0005829 | Cellular component | cytosol |
| GO_0033593 | Cellular component | BRCA2-MAGE-D1 complex |
| GO_1990391 | Cellular component | DNA repair complex |
| GO_0000152 | Cellular component | nuclear ubiquitin ligase complex |
| GO_0000800 | Cellular component | lateral element |
| GO_0030141 | Cellular component | secretory granule |
| GO_0000781 | Cellular component | chromosome, telomeric region |
| GO_0005634 | Cellular component | nucleus |
| GO_0043015 | Molecular function | gamma-tubulin binding |
| GO_0003697 | Molecular function | single-stranded DNA binding |
| GO_0010484 | Molecular function | histone H3 acetyltransferase activity |
| GO_0042802 | Molecular function | identical protein binding |
| GO_0002020 | Molecular function | protease binding |
| GO_0010485 | Molecular function | histone H4 acetyltransferase activity |
| GO_0004402 | Molecular function | histone acetyltransferase activity |
| GO_0005515 | Molecular function | protein binding |
| Gene name | BRCA2 |
| Protein name | Truncated breast and ovarian cancer susceptibility protein 2 variant Breast and ovarian cancer susceptibility protein 2 (Breast cancer 2 tumor suppressor) Truncated breast cancer type 2 susceptibility protein Breast cancer type 2 susceptibility protein Breast and ovarian cancer susceptibility protein Truncated BRCA2 BRCA2 protein DNA repair-associated BRCA2 Truncated BRCA2 DNA repair-associated protein Breast and ovarian cancer susceptibility protein 2 BRCA2 DNA repair associated Breast cancer 2 tumor suppressor Breast and ovarian cancer susceptibility protein (Breast cancer susceptibility protein BRCA2) Mutant early onset breast cancer susceptibility protein 2 BRCA2 Breast cancer type 2 susceptibility protein (Fanconi anemia group D1 protein) Breast and ovarian cancer susceptibility protein 2 truncated variant Truncated DNA repair-associated BRCA2 Truncated breast and ovarian cancer susceptibility protein 2 Truncated BRCA2 DNA repair associated Truncated breast cancer 2 |
| Synonyms | FANCD1 FACD |
| Description | FUNCTION: Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication. Interacts with the TREX-2 complex (transcription and export complex 2) subunits PCID2 and SEM1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination . . |
| Accessions | A0A068BFU2 ENST00000528762.2 A0A068BDV3 A0A068BDS2 A0A0F7G9F8 A0A248X3Z0 A0A386IN23 ENST00000380152.8 A0A386INL2 A0A0F6TN97 A0A0F7CSW3 A0A386IP91 A0A068BEU4 A0A4P8DL22 A0A4P8DL54 ENST00000530893.7 A0A068BFY4 A0A068BDT0 A0A068BFW8 A0A248X3Y9 A0A7G9ZE26 A0A068BCC2 A0A248X3Y7 A0A0F6RAD2 A0A248X3Z6 A0A0A7E6R6 ENST00000680887.1 K4JTT2 Q9H265 A0A068BFW6 ENST00000470094.2 K4JUC8 A0A386IN22 A0A590UJ24 A0A386INE3 A0A386IQ46 A0A386IPV6 A0A248X3Y8 Q9BX99 A0A068BI30 A0A386IP96 ENST00000700202.2 A0A7G8KP82 ENST00000700201.1 A0A068BI50 ENST00000544455.6 K4JWF3 A0A0F6TMQ3 A0A248X3Z5 A0A386IPV8 A0A8A2FPR6 A0A386IPV5 A0A8E6I3X3 K4JXU1 A0A386IPY1 ENST00000666593.2 A0A7P0TAP7 K4JWF8 A0A068BC94 A0A8V8TPZ2 ENST00000614259.2 A0A386INM2 A0A4P8DKU7 A0A068BFX3 A0A386IN15 A0A068BFU7 A0A386IN16 A0A248X3Z4 A0A649UI09 A0A649UI46 K4JTT6 A0A248X3Z3 A0A068BDS6 A0A068BC92 H0YD86 A0A386IPK0 A0A0F6TN92 A0A068BEW3 K4JTS7 A0A068BEV8 A0A068BEU0 A0A386IPX7 A0A590UJI7 A0A0F6RAU8 K4K7W0 A0A386IPX8 A0A0F6TMQ7 H0YE37 A1YBP1 A0A068BCA8 A0A8A2FLM5 A0A386IPV4 A0A1S5WLI2 A0A248X3Y4 A0A386IPV1 A0A8V8TQQ4 A0A0F6RAD4 Q9H4L2 A0A0F6RAU4 Q8IU64 A0A386IPV2 A0A386IPI4 K4JXT6 A0A7G8KP83 A0A386INF6 A0A386ING9 A0A248X3Z1 A0A068BI27 A0A0F6RAU6 A0A386IP79 A0A068BDU4 A0A0F6TMZ9 A0A248X3Z2 A0A386IND4 A0A2S1WCJ3 A0A0F6TN25 A0A4P8DKN2 A0A068BI47 A0A386IPH1 A0A6G8IU57 A0A386IPY0 A0A649UI40 A0A386IPH8 A0A386IP85 A0A386IPV9 ENST00000665585.2 A0A386IPJ4 A0A7G6J4N9 A0A386IPV3 K4K7V6 A0A0F6TMZ6 A0A0F6TNI0 K4JUC3 A0A068BDU2 A0A386ING3 Q8IU77 A0A6G8IU23 A0A0F6RAD6 Q8IU82 A0A7P0T9D7 A0A386IN02 P51587 A0A068BCA9 A0A7G9ZE27 ENST00000680887 A0A068BEX2 A0A386IQ62 A0A386IQ54 A0A590UJU6 A0A248X3X9 A0A386IQ50 A0A386IN05 A0A386INK6 Q9H4L3 A0A649UIZ9 |
