Name | Number of supported studies | Average coverage | |
---|---|---|---|
glutamatergic neuron | 8 studies | 45% ± 26% | |
endothelial cell | 7 studies | 24% ± 11% | |
oligodendrocyte precursor cell | 7 studies | 25% ± 10% | |
GABAergic neuron | 7 studies | 44% ± 22% | |
oligodendrocyte | 7 studies | 29% ± 12% | |
interneuron | 6 studies | 43% ± 23% | |
retinal cone cell | 6 studies | 38% ± 8% | |
neuron | 5 studies | 36% ± 13% | |
retinal rod cell | 5 studies | 22% ± 2% | |
granule cell | 4 studies | 21% ± 5% | |
epithelial cell | 4 studies | 26% ± 9% | |
astrocyte | 4 studies | 32% ± 17% | |
GABAergic interneuron | 3 studies | 23% ± 5% | |
ciliated cell | 3 studies | 21% ± 3% | |
transit amplifying cell | 3 studies | 34% ± 12% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
ovary | 100% | 858.98 | 180 / 180 | 100% | 11.72 | 430 / 430 |
brain | 100% | 1523.42 | 2636 / 2642 | 100% | 8.95 | 704 / 705 |
breast | 100% | 1159.56 | 458 / 459 | 100% | 14.08 | 1115 / 1118 |
uterus | 100% | 948.67 | 170 / 170 | 99% | 14.78 | 455 / 459 |
thymus | 100% | 1344.83 | 653 / 653 | 99% | 10.45 | 599 / 605 |
esophagus | 99% | 867.69 | 1429 / 1445 | 100% | 10.05 | 183 / 183 |
bladder | 100% | 837.86 | 21 / 21 | 99% | 11.08 | 498 / 504 |
intestine | 100% | 959.82 | 962 / 966 | 98% | 9.60 | 517 / 527 |
stomach | 98% | 630.74 | 351 / 359 | 98% | 9.30 | 281 / 286 |
skin | 100% | 1737.90 | 1809 / 1809 | 96% | 11.47 | 452 / 472 |
prostate | 99% | 683.54 | 243 / 245 | 96% | 6.63 | 482 / 502 |
lung | 95% | 756.94 | 551 / 578 | 100% | 11.30 | 1151 / 1155 |
pancreas | 98% | 558.69 | 321 / 328 | 96% | 5.60 | 170 / 178 |
kidney | 100% | 691.34 | 89 / 89 | 88% | 5.22 | 792 / 901 |
adrenal gland | 97% | 1095.61 | 251 / 258 | 88% | 5.35 | 203 / 230 |
liver | 76% | 300.55 | 172 / 226 | 76% | 3.85 | 310 / 406 |
lymph node | 0% | 0 | 0 / 0 | 100% | 14.42 | 29 / 29 |
spleen | 100% | 1137.34 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 12.75 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 2.89 | 1 / 1 |
adipose | 100% | 944.55 | 1202 / 1204 | 0% | 0 | 0 / 0 |
blood vessel | 98% | 640.17 | 1308 / 1335 | 0% | 0 | 0 / 0 |
muscle | 94% | 511.48 | 755 / 803 | 0% | 0 | 0 / 0 |
heart | 93% | 608.15 | 801 / 861 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 79% | 4.96 | 63 / 80 |
peripheral blood | 53% | 1030.95 | 494 / 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_0048298 | Biological process | positive regulation of isotype switching to IgA isotypes |
GO_0006281 | Biological process | DNA repair |
GO_0006119 | Biological process | oxidative phosphorylation |
GO_0010165 | Biological process | response to X-ray |
GO_0001701 | Biological process | in utero embryonic development |
GO_0008340 | Biological process | determination of adult lifespan |
GO_0006302 | Biological process | double-strand break repair |
GO_0042771 | Biological process | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator |
GO_0006301 | Biological process | postreplication repair |
GO_0010224 | Biological process | response to UV-B |
GO_0016447 | Biological process | somatic recombination of immunoglobulin gene segments |
GO_0007281 | Biological process | germ cell development |
GO_0048304 | Biological process | positive regulation of isotype switching to IgG isotypes |
GO_0071168 | Biological process | protein localization to chromatin |
GO_0008584 | Biological process | male gonad development |
GO_0051096 | Biological process | positive regulation of helicase activity |
GO_0031573 | Biological process | mitotic intra-S DNA damage checkpoint signaling |
GO_0045190 | Biological process | isotype switching |
GO_0016446 | Biological process | somatic hypermutation of immunoglobulin genes |
GO_0006298 | Biological process | mismatch repair |
GO_0006312 | Biological process | mitotic recombination |
GO_0019724 | Biological process | B cell mediated immunity |
GO_0043570 | Biological process | maintenance of DNA repeat elements |
GO_0043524 | Biological process | negative regulation of neuron apoptotic process |
GO_0002204 | Biological process | somatic recombination of immunoglobulin genes involved in immune response |
GO_0030183 | Biological process | B cell differentiation |
GO_0045910 | Biological process | negative regulation of DNA recombination |
GO_0016020 | Cellular component | membrane |
GO_0032302 | Cellular component | MutSbeta complex |
GO_0005654 | Cellular component | nucleoplasm |
GO_0032301 | Cellular component | MutSalpha complex |
GO_0000781 | Cellular component | chromosome, telomeric region |
GO_0005634 | Cellular component | nucleus |
GO_0003677 | Molecular function | DNA binding |
GO_0042803 | Molecular function | protein homodimerization activity |
GO_0043531 | Molecular function | ADP binding |
GO_0032142 | Molecular function | single guanine insertion binding |
GO_0003682 | Molecular function | chromatin binding |
GO_0003697 | Molecular function | single-stranded DNA binding |
GO_0140664 | Molecular function | ATP-dependent DNA damage sensor activity |
GO_0003690 | Molecular function | double-stranded DNA binding |
GO_0032181 | Molecular function | dinucleotide repeat insertion binding |
GO_0032137 | Molecular function | guanine/thymine mispair binding |
GO_0032405 | Molecular function | MutLalpha complex binding |
GO_0030983 | Molecular function | mismatched DNA binding |
GO_0000287 | Molecular function | magnesium ion binding |
GO_0000400 | Molecular function | four-way junction DNA binding |
GO_0032143 | Molecular function | single thymine insertion binding |
GO_0032139 | Molecular function | dinucleotide insertion or deletion binding |
GO_0005524 | Molecular function | ATP binding |
GO_0019237 | Molecular function | centromeric DNA binding |
GO_0008094 | Molecular function | ATP-dependent activity, acting on DNA |
GO_0032357 | Molecular function | oxidized purine DNA binding |
GO_0005515 | Molecular function | protein binding |
GO_0016887 | Molecular function | ATP hydrolysis activity |
Gene name | MSH2 |
Protein name | MutS homolog 2 MSH2+ins9a isoform Truncated mutS homolog 2 protein DNA mismatch repair protein DNA mismatch repair protein Msh2 (hMSH2) (MutS protein homolog 2) MutS homolog 2 protein MSH2-Ex10 isoform MSH2-Ex3 isoform Uncharacterized protein MSH2 Mutant mismatch repair protein MSH2-Ex5 isoform MSH2 protein |
Synonyms | hCG_17836 |
Description | FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Recruits DNA helicase MCM9 to chromatin which unwinds the mismatch containing DNA strand . ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. In melanocytes may modulate both UV-B-induced cell cycle regulation and apoptosis. . FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). . FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). . FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). . FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). . FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). . FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). . |
Accessions | A5JTU9 A0A2R8Y713 A0A2R8YFH0 Q0ZAJ1 V9H0D5 Q53RU4 ENST00000645339.1 Q6VBB7 V9H019 Q0ZAJ2 V9H015 A0A2R8Y7S8 ENST00000646415.1 A5JTV3 Q0ZAJ0 ENST00000406134.5 ENST00000645506.1 ENST00000233146.7 [P43246-1] ENST00000543555.6 [P43246-2] V9H023 A0A2R8YG02 A0A2R8Y6P0 A5JTV2 ENST00000644092.1 P43246 Q0ZAI9 E9PHA6 V9H0B2 V9H068 ENST00000644900.2 |