Q3UEN2
PR
Gene name |
Shld2 |
Protein name |
Shieldin complex subunit 2 |
Names |
Protein FAM35A, RINN1-REV7-interacting novel NHEJ regulator 2 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:75698 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q3UEN2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q3UEN2-F1 | Predicted | AlphaFoldDB |
61 variants for Q3UEN2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs50260027 | 3 | Q>R | No | EVA | |
| rs587008363 | 11 | L>W | No | EVA | |
| rs48806678 | 42 | F>S | No | EVA | |
| rs3404940920 | 72 | P>L | No | EVA | |
| rs239613771 | 79 | V>L | No | EVA | |
| rs47459367 | 81 | T>M | No | EVA | |
| rs31221961 | 91 | D>E | No | EVA | |
| rs30990763 | 107 | Q>H | No | EVA | |
| rs220703028 | 107 | Q>L | No | EVA | |
| rs221965740 | 153 | S>A | No | EVA | |
| rs252758114 | 155 | P>L | No | EVA | |
| rs3389330832 | 156 | C>* | No | EVA | |
| rs3389335262 | 162 | R>K | No | EVA | |
| rs236975071 | 165 | F>S | No | EVA | |
| rs3389284072 | 168 | D>A | No | EVA | |
| rs3389284006 | 183 | Q>* | No | EVA | |
| rs3389284060 | 193 | T>K | No | EVA | |
| rs30207211 | 196 | R>H | No | EVA | |
| rs31095432 | 206 | D>H | No | EVA | |
| rs31095432 | 206 | D>Y | No | EVA | |
| rs31385017 | 214 | E>K | No | EVA | |
| rs30428375 | 218 | R>S | No | EVA | |
| rs227240108 | 226 | S>T | No | EVA | |
| rs214887601 | 226 | S>Y | No | EVA | |
| rs245603387 | 227 | A>T | No | EVA | |
| rs30360376 | 240 | R>Q | No | EVA | |
| rs3389330761 | 245 | Q>R | No | EVA | |
| rs228647144 | 257 | S>R | No | EVA | |
| rs3389330685 | 266 | T>I | No | EVA | |
| rs49278254 | 272 | R>S | No | EVA | |
| rs3389315369 | 296 | V>M | No | EVA | |
| rs3389320930 | 311 | S>C | No | EVA | |
| rs3389315378 | 316 | I>V | No | EVA | |
| rs3400429606 | 318 | P>L | No | EVA | |
| rs246830553 | 333 | N>H | No | EVA | |
| rs222581984 | 336 | N>T | No | EVA | |
| rs3389301301 | 343 | C>Y | No | EVA | |
| rs234517609 | 347 | P>Q | No | EVA | |
| rs217243290 | 355 | S>C | No | EVA | |
| rs252421134 | 356 | C>S | No | EVA | |
| rs3389313770 | 357 | K>I | No | EVA | |
| rs3389301280 | 361 | H>P | No | EVA | |
| rs3389311866 | 365 | A>D | No | EVA | |
| rs3389284028 | 371 | Q>H | No | EVA | |
| rs47723536 | 386 | A>D | No | EVA | |
| rs3389273307 | 432 | T>S | No | EVA | |
| rs3389319035 | 438 | N>I | No | EVA | |
| rs3389291571 | 447 | T>M | No | EVA | |
| rs3389301318 | 490 | Q>R | No | EVA | |
| rs217925619 | 568 | I>L | No | EVA | |
| rs50051369 | 599 | L>V | No | EVA | |
| rs3404945407 | 678 | N>K | No | EVA | |
| rs3389273314 | 690 | T>N | No | EVA | |
| rs1133692378 | 691 | H>N | No | EVA | |
| rs221152859 | 714 | A>G | No | EVA | |
| rs250905505 | 728 | Q>K | No | EVA | |
| rs3404194753 | 733 | S>Y | No | EVA | |
| rs3389273310 | 811 | V>E | No | EVA | |
| rs256764979 | 846 | L>F | No | EVA | |
| rs13475136 | 860 | F>S | No | EVA | |
| rs3389318961 | 874 | S>I | No | EVA |
No associated diseases with Q3UEN2
1 regional properties for Q3UEN2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Shieldin complex subunit 2, C-terminal domain | 694 - 866 | IPR031589 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| site of double-strand break | A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| negative regulation of double-strand break repair via homologous recombination | Any process that stops, prevents, or reduces the frequency, rate or extent of double-strand break repair via homologous recombination. |
| positive regulation of double-strand break repair via nonhomologous end joining | Any process that activates or increases the frequency, rate or extent of double-strand break repair via nonhomologous end joining. |
| positive regulation of isotype switching | Any process that activates or increases the frequency, rate or extent of isotype switching. |
| regulation of double-strand break repair via homologous recombination | Any process that modulates the frequency, rate or extent of the error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. |
| somatic diversification of immunoglobulins involved in immune response | The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response. |
| telomere maintenance in response to DNA damage | Any process that occur in response to the presence of critically short or damaged telomeres. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSQGSQVHIF | LGAPVAPLKT | TVSQGTASLM | STANAWEKVR | LFYKQHSLYL | KAGDQEFKNL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EDCQVPKGLG | PPGLLSGDVL | TTSVRRSAQV | DEDFKHSASE | AQSVKSQVNL | SDMTSGQMCG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LGDGVQHLPE | EEKDQKLQCK | NKKITDEQSK | NQSDPCVRNF | QRDLFALDLK | CAAKLDLGCC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TEQMSTGTKP | EPTGHRERQS | QESFSDTRCE | PQSEGAVRKA | SDQRLSAEAE | FLSVLTSSQR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AFLAQGNDKG | QDCINKSTVN | MEAEPTGSQG | VRRTEGDFSK | PGGDFEEESE | NEQSQVYSLE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LFSPVCPESE | SSHSHINPGK | NLENTSSQEL | FSNEENLPPN | ELCSSHPSTA | NRSWSCKDDS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HHSKALSEVH | QVSKKPRMDS | NIREAAKAVP | QRVMSELKDS | KKISLIKNCD | SKNQKYNCLV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MVLTPCHVKE | ITIKSGPNSG | SKVPLATIVV | IDQSEIKKRV | VLWRTAAFGA | LTVFLGDIIL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LTDVVLYEDQ | WIGETVLQST | FTSQLLNLGS | YSYVQPEKYS | NVIANVILQD | LLTYVSTKHS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YLKDLPQRQP | QKMNTVEFVE | LEQLQPDILV | HAVLRVVDVT | VLTEALYSYR | GQKQRKVVLT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VEQAQGQHYV | LVLWGPGAAW | YTQLQRKKDS | IWEFKYLFVQ | RNSILENLEL | HTTLWSSCEC |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LFDDDTRAIS | FKTKFQKNTS | SFVKISDLAT | HLEDKYSGVV | LIKAKVSELV | FSAAAAQKIA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LNARSTLQSI | FSSLPSIVYA | GCAHCGSELE | TDENRIYRQC | LSCLPFVGKK | IFYRPALMTI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VDGRYNTCVH | VGSKMMEQIL | LNISPDCLNR | VIVPSSEVTY | GMVASDLLHS | LLAVSAEPCV |
| 850 | 860 | 870 | 880 | 890 | |
| LKIQSLFELD | ENSYPLQQDF | SLLDFCPDSR | KLWSPGLSLR | AEGTGGIPGK | E |