Insufficient scRNA-seq data for expression of PALB2 at single-cell level.
Insufficient scRNA-seq data for expression of PALB2 at tissue level.
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
esophagus | 100% | 688.77 | 1445 / 1445 | 100% | 16.27 | 183 / 183 |
ovary | 100% | 613.42 | 180 / 180 | 100% | 8.96 | 430 / 430 |
intestine | 100% | 674.98 | 965 / 966 | 100% | 12.38 | 527 / 527 |
bladder | 100% | 723.10 | 21 / 21 | 100% | 12.95 | 503 / 504 |
breast | 100% | 708.63 | 459 / 459 | 100% | 15.22 | 1115 / 1118 |
uterus | 100% | 674.52 | 170 / 170 | 100% | 15.36 | 457 / 459 |
lung | 99% | 553.06 | 574 / 578 | 100% | 12.40 | 1155 / 1155 |
brain | 99% | 482.49 | 2620 / 2642 | 100% | 10.02 | 705 / 705 |
stomach | 99% | 459.23 | 357 / 359 | 100% | 12.75 | 285 / 286 |
thymus | 100% | 608.80 | 653 / 653 | 99% | 8.47 | 597 / 605 |
skin | 100% | 1007.13 | 1809 / 1809 | 99% | 13.71 | 465 / 472 |
kidney | 100% | 518.54 | 89 / 89 | 98% | 7.47 | 887 / 901 |
prostate | 100% | 535.82 | 245 / 245 | 98% | 6.17 | 490 / 502 |
pancreas | 98% | 327.42 | 322 / 328 | 99% | 10.06 | 176 / 178 |
adrenal gland | 100% | 534.25 | 257 / 258 | 96% | 6.03 | 221 / 230 |
liver | 100% | 389.05 | 226 / 226 | 91% | 5.24 | 371 / 406 |
adipose | 100% | 652.07 | 1204 / 1204 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 100% | 10.41 | 29 / 29 |
spleen | 100% | 669.86 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 16.56 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 6.36 | 1 / 1 |
blood vessel | 100% | 430.78 | 1333 / 1335 | 0% | 0 | 0 / 0 |
muscle | 99% | 390.58 | 796 / 803 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 96% | 8.25 | 77 / 80 |
heart | 93% | 263.48 | 800 / 861 | 0% | 0 | 0 / 0 |
peripheral blood | 64% | 442.51 | 597 / 929 | 0% | 0 | 0 / 0 |
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 |
GO_0000724 | Biological process | double-strand break repair via homologous recombination |
GO_0001833 | Biological process | inner cell mass cell proliferation |
GO_0006915 | Biological process | apoptotic process |
GO_0007498 | Biological process | mesoderm development |
GO_0035264 | Biological process | multicellular organism growth |
GO_0048568 | Biological process | embryonic organ development |
GO_0043066 | Biological process | negative regulation of apoptotic process |
GO_0036342 | Biological process | post-anal tail morphogenesis |
GO_0009887 | Biological process | animal organ morphogenesis |
GO_0001756 | Biological process | somitogenesis |
GO_0016607 | Cellular component | nuclear speck |
GO_0032991 | Cellular component | protein-containing complex |
GO_0005654 | Cellular component | nucleoplasm |
GO_1990391 | Cellular component | DNA repair complex |
GO_0005634 | Cellular component | nucleus |
GO_0003677 | Molecular function | DNA binding |
GO_0005515 | Molecular function | protein binding |
Gene name | PALB2 |
Protein name | Mutant partner and localizer of BRCA2 Truncated partner and localizer of BRCA2 Partner and localizer of BRCA2 |
Synonyms | FANCN hCG_1986920 FLJ21816 |
Description | FUNCTION: Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks . Strongly stimulates the DNA strand-invasion activity of RAD51, stabilizes the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA) . Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51 . Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination . Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair . Essential partner of BRCA2 that promotes the localization and stability of BRCA2 . Also enables its recombinational repair and checkpoint functions of BRCA2 . May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation . Binds DNA with high affinity for D loop, which comprises single-stranded, double-stranded and branched DNA structures . May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with BRCA2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity . . |
Accessions | ENST00000697376.1 ENST00000697383.1 ENST00000568219.5 A0A8V8TMK8 A0A8V8TMC9 ENST00000566069.6 ENST00000565038.2 A0A386NFW8 A0A7G8KP84 A0A2H4RBX9 A0A2H4N753 A0A386NC04 A0A386NC12 ENST00000261584.9 A0A4P8L986 ENST00000697377.2 ENST00000697382.1 A0A386NCW0 A0A386NC05 A0A386NC51 A0A4P8DL76 A0A386NCA1 A0A386NG36 I3L1Z5 I3L2S5 A0A8V8TKZ4 ENST00000697374.1 A0A386NDA4 H3BN63 ENST00000561514.3 ENST00000697379.2 A0AA52I2C1 A0A386NCT4 Q86YC2 A0A8V8TLC8 |