Q8WVK7
PR
Gene name |
SKA2 (FAM33A) |
Protein name |
Spindle and kinetochore-associated protein 2 |
Names |
Protein FAM33A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:348235 |
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
2 structures for Q8WVK7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4AJ5 | X-ray | 332 A | K/L/M/N/O/P/Q/R/S/T | 1-121 | PDB |
| AF-Q8WVK7-F1 | Predicted | AlphaFoldDB |
90 variants for Q8WVK7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA292083478 rs1050102876 |
2 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1314137396 CA400393409 |
3 | A>E | No |
ClinGen gnomAD |
|
|
CA400393419 rs1362783529 |
3 | A>T | No |
ClinGen TOPMed |
|
|
CA400393396 rs1415047086 |
4 | E>K | No |
ClinGen gnomAD |
|
|
rs769540487 CA8679008 |
5 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA400393345 rs1326412904 |
6 | D>E | No |
ClinGen gnomAD |
|
|
rs1468145519 CA400393337 |
7 | K>E | No |
ClinGen TOPMed |
|
|
rs781155337 CA8679006 |
8 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs747758423 CA292083443 |
11 | M>I | No |
ClinGen Ensembl |
|
|
rs746482031 CA8679004 |
11 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA8679003 rs779562136 |
11 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400393242 rs779562136 |
11 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8678891 rs755189538 |
12 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs925335744 CA292105432 |
14 | K>E | No |
ClinGen TOPMed |
|
|
CA8678890 rs746771947 |
16 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA400408295 rs1395433449 |
20 | D>N | No |
ClinGen gnomAD |
|
|
rs140203033 CA8678889 |
21 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400408212 rs374720606 |
23 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA292105408 rs371736916 |
24 | Y>C | No |
ClinGen ESP gnomAD |
|
|
rs750452824 CA8678887 |
26 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764826695 CA8678885 |
27 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1213268710 CA400408142 |
32 | T>A | No |
ClinGen gnomAD |
|
|
rs1443366889 CA400408139 |
32 | T>S | No |
ClinGen gnomAD |
|
|
CA8678884 rs756832285 |
34 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8678883 rs753319228 |
36 | D>Y | No |
ClinGen ExAC |
|
|
rs1194620132 CA400408098 |
37 | S>L | No |
ClinGen gnomAD |
|
|
rs568404718 CA8678882 |
38 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA292105372 rs777599766 |
39 | S>N | No |
ClinGen gnomAD |
|
|
CA292098417 rs898220637 |
41 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA400405121 rs1406003968 |
43 | P>A | No |
ClinGen gnomAD |
|
|
CA400405107 rs1467200469 |
44 | V>G | No |
ClinGen TOPMed |
|
|
CA292098413 rs1038072175 |
45 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 46 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8678863 rs745768798 |
48 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1288167842 CA400404977 |
50 | L>F | No |
ClinGen Ensembl |
|
|
CA8678862 rs112928700 |
52 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8678861 rs757162532 |
56 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs753330101 CA8678860 |
56 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221716558 CA400404811 |
57 | Y>F | No |
ClinGen gnomAD |
|
|
CA400404827 rs1248945273 |
57 | Y>H | No |
ClinGen gnomAD |
|
|
CA8678858 rs755784070 |
58 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755784070 CA400404801 |
58 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354173524 CA400404739 |
60 | L>S | No |
ClinGen Ensembl |
|
|
rs1225052644 CA400404708 |
61 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1239361343 CA400404691 |
62 | A>D | No |
ClinGen gnomAD |
|
|
rs763351009 CA8678855 |
63 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs773602021 CA8678854 |
63 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1351012562 CA400404611 |
68 | A>V | No |
ClinGen TOPMed |
|
|
rs1294007645 CA400404609 |
69 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA400404568 rs1316505493 |
71 | Q>H | No |
ClinGen gnomAD |
|
|
CA400404513 rs1381345148 |
74 | S>N | No |
ClinGen gnomAD |
|
|
CA400404484 rs1452932441 |
77 | R>C | No |
ClinGen gnomAD |
|
|
CA8678851 rs762243020 |
77 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8678849 rs768687939 |
78 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8678847 rs763662759 |
79 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8678846 rs374605061 |
79 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745609269 CA8678845 |
81 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA292098261 rs1056347315 |
82 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA400404414 rs1056347315 |
82 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8678844 rs778862571 |
82 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770832991 CA8678843 |
86 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs749248114 CA8678841 |
87 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8678840 rs777321085 |
88 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA8678839 rs755624768 |
90 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1312499116 CA400404285 |
91 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA292098238 rs201290080 |
91 | K>R | No |
ClinGen 1000Genomes |
|
|
rs569990001 CA292098234 |
93 | Q>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs752312389 CA8678838 |
93 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA292098200 rs199733352 |
94 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs967355881 CA292098197 |
95 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1416796895 CA400404165 |
98 | L>P | No |
ClinGen gnomAD |
|
|
CA292098180 rs911861408 |
98 | L>V | No |
ClinGen TOPMed |
|
|
CA292098177 rs557971944 |
99 | E>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
CA400402763 rs1599654334 |
100 | L>V | No |
ClinGen Ensembl |
|
|
CA8678820 rs542480699 |
103 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1242908512 CA400402682 |
104 | T>I | No |
ClinGen gnomAD |
|
|
rs950370558 CA292094537 |
108 | K>R | No |
ClinGen Ensembl |
|
|
CA8678818 rs370187685 |
110 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8678817 rs754560777 |
111 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400402549 rs1391245555 |
112 | E>G | No |
ClinGen gnomAD |
|
|
CA400402537 rs1375130345 |
113 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1333957722 CA400402520 |
114 | F>L | No |
ClinGen gnomAD |
|
|
rs1369186810 CA400402495 |
115 | K>N | No |
ClinGen TOPMed |
|
|
CA8678816 rs751281331 |
116 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 117 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278502517 CA400402447 |
118 | M>I | No |
ClinGen gnomAD |
|
|
rs1025945783 CA400402457 |
118 | M>L | No |
ClinGen Ensembl |
|
|
CA292094523 rs1025945783 |
118 | M>V | No |
ClinGen Ensembl |
|
|
rs758466478 CA292094517 |
121 | L>V | No |
ClinGen TOPMed |
|
|
rs779324999 CA400402393 CA8678815 |
122 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q8WVK7
1 regional properties for Q8WVK7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ska2, N-terminal | 2 - 115 | IPR042091 |
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
| outer kinetochore | The region of a kinetochore most external to centromeric DNA; this outer region mediates kinetochore-microtubule interactions. |
| spindle microtubule | Any microtubule that is part of a mitotic or meiotic spindle; anchored at one spindle pole. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| chromosome segregation | The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
| regulation of microtubule polymerization or depolymerization | Any process that modulates the frequency, rate or extent of microtubule polymerization or depolymerization by the addition or removal of tubulin heterodimers from a microtubule. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAEVDKLEL | MFQKAESDLD | YIQYRLEYEI | KTNHPDSASE | KNPVTLLKEL | SVIKSRYQTL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YARFKPVAVE | QKESKSRICA | TVKKTMNMIQ | KLQKQTDLEL | SPLTKEEKTA | AEQFKFHMPD |
| L |