Q15555
PR
Gene name |
MAPRE2 (RP1) |
Protein name |
Microtubule-associated protein RP/EB family member 2 |
Names |
APC-binding protein EB2, End-binding protein 2, EB2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10982 |
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 Q15555
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q15555-F1 | Predicted | AlphaFoldDB |
126 variants for Q15555
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000781519 rs1568991852 |
57 | T>missing | Skin creases, congenital symmetric circumferential, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000203276 rs864309719 CA278790 VAR_076540 |
68 | N>S | Skin creases, congenital symmetric circumferential, 2 CSCSC2; enhances binding to microtubules [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000203280 CA278792 rs864309717 VAR_076541 |
87 | Y>C | Skin creases, congenital symmetric circumferential, 2 CSCSC2; enhances binding to microtubules [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1603400699 CA402276506 RCV000856827 |
127 | R>Q | Skin creases, congenital symmetric circumferential, 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000203279 VAR_076542 rs864309720 CA278791 RCV003126592 |
143 | R>C | Skin creases, congenital symmetric circumferential, 2 Variant assessed as Somatic; impact. Developmental disorder CSCSC2; enhances binding to microtubules [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs864309718 CA278793 RCV000203284 |
152 | Q>* | Skin creases, congenital symmetric circumferential, 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402275503 rs1179546530 |
2 | P>S | No |
ClinGen TOPMed |
|
|
CA402275544 rs1318128440 |
8 | L>P | No |
ClinGen gnomAD |
|
|
rs1196529655 CA402275550 |
9 | S>F | No |
ClinGen TOPMed |
|
|
rs1346194730 CA402275559 |
11 | N>D | No |
ClinGen gnomAD |
|
|
CA402275571 rs1346848206 |
12 | G>V | No |
ClinGen TOPMed |
|
|
rs1568980597 CA402275623 |
18 | I>T | No |
ClinGen Ensembl |
|
|
rs1328903077 CA402275649 |
21 | D>G | No |
ClinGen TOPMed |
|
|
CA402275645 rs1196864281 |
21 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1283839348 CA402275657 |
22 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 30 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402275770 rs1283243558 |
35 | R>C | No |
ClinGen gnomAD |
|
|
rs1368719289 CA402277293 |
52 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 62 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs898388614 CA298604098 |
76 | T>I | No |
ClinGen Ensembl |
|
|
rs1603397439 CA402277492 |
79 | E>Q | No |
ClinGen Ensembl |
|
|
CA402277516 rs1246186754 |
82 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 83 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1293116676 CA402276247 |
91 | M>T | No |
ClinGen TOPMed |
|
|
CA402276278 rs1221557416 |
95 | F>S | No |
ClinGen TOPMed |
|
|
CA8936112 rs759836232 |
97 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA298606972 rs768005185 |
112 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 114 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752927476 CA8936114 |
117 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA402276476 rs1174180030 |
123 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8936116 rs764213967 |
128 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA402276523 rs750392221 |
129 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM282666 CA8936118 rs756121791 |
130 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8936141 rs147506025 |
146 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 157 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402276742 rs1569004058 |
158 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs11538994 CA298607408 |
159 | D>G | No |
ClinGen Ensembl |
|
|
rs11538993 CA298607409 VAR_050018 |
162 | Y>C | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA402276774 rs1422319384 |
163 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 167 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8936145 rs777234105 |
171 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8936146 rs746545426 |
174 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs770392383 CA8936147 |
179 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202589749 CA402276973 |
192 | P>T | No |
ClinGen gnomAD |
|
|
rs928697491 CA298607413 |
198 | A>G | No |
ClinGen TOPMed |
|
|
rs1569004137 CA402277023 |
199 | N>D | No |
ClinGen Ensembl |
|
|
CA8936152 rs763167211 |
200 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8936153 rs768941257 |
201 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs774392045 CA8936154 |
203 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs141745175 CA298609968 |
204 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141745175 CA8936166 |
204 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745307533 CA8936167 |
205 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756654280 CA8936168 |
205 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402277563 rs1428602871 |
208 | S>A | No |
ClinGen gnomAD |
|
|
rs1555921982 CA402277572 |
209 | S>T | No |
ClinGen Ensembl |
|
|
CA402277580 rs1432058742 |
210 | P>L | No |
ClinGen gnomAD |
|
|
CA8936169 rs780373450 |
210 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402277586 rs1569014116 |
211 | A>V | No |
ClinGen Ensembl |
|
|
rs562039880 CA402277591 |
212 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1306417700 CA402277589 |
212 | A>S | No |
ClinGen TOPMed |
|
|
CA8936170 rs562039880 |
212 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA298609969 rs991080402 |
215 | G>A | No |
ClinGen TOPMed |
|
|
CA8936173 rs748365855 |
216 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748365855 CA8936174 |
216 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374637046 CA8936175 |
218 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA298609971 rs939240559 |
219 | S>C | No |
ClinGen gnomAD |
|
|
CA402277632 rs1569014161 |
220 | R>* | No |
ClinGen Ensembl |
|
|
rs1243213927 CA402277641 |
221 | P>L | No |
ClinGen gnomAD |
|
|
rs1321378923 CA402277664 |
225 | K>R | No |
ClinGen gnomAD |
|
|
rs762849644 CA8936179 |
229 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402721416 CA402277696 |
230 | S>T | No |
ClinGen Ensembl |
|
|
CA298609972 rs897619253 |
233 | A>S | No |
ClinGen Ensembl |
|
|
rs1241232090 CA402277735 |
236 | S>C | No |
ClinGen gnomAD |
|
|
CA402277737 rs1195269032 |
237 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8936182 rs756901516 |
242 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8936183 rs201185911 |
242 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1172856523 CA402277788 |
244 | V>I | No |
ClinGen TOPMed |
|
|
CA402277798 rs1603403792 |
245 | I>T | No |
ClinGen Ensembl |
|
|
rs150519996 CA8936227 |
252 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374989698 CA8936229 |
256 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8936230 rs759069184 |
258 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA298610505 rs769409687 |
259 | E>G | No |
ClinGen Ensembl |
|
|
CA402277971 rs1245106872 |
260 | G>D | No |
ClinGen gnomAD |
|
|
CA8936232 rs546828147 |
261 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402277994 rs1195665596 |
263 | K>N | No |
ClinGen gnomAD |
|
|
CA298610506 rs530247593 |
268 | Y>C | No |
ClinGen Ensembl |
|
|
rs757427475 CA8936236 |
273 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA402278076 rs781424078 |
275 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8936237 rs781424078 |
275 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8936239 rs769830095 |
278 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8936240 rs778867243 |
280 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1466970107 CA402278145 |
285 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs894434085 CA298610511 |
288 | D>G | No |
ClinGen TOPMed |
|
|
CA298610512 rs751229964 |
290 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8936245 rs751229964 |
290 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372950772 CA8936246 |
291 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8936247 rs759157135 |
291 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1569016395 CA402278197 |
292 | R>S | No |
ClinGen Ensembl |
|
|
CA8936248 rs764818526 |
294 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202150740 CA298610513 |
296 | I>S | No |
ClinGen TOPMed |
|
|
CA402278259 rs1483789299 |
302 | E>* | No |
ClinGen gnomAD |
|
|
CA402278269 rs1202324344 |
303 | H>N | No |
ClinGen gnomAD |
|
|
rs376071715 CA8936251 |
303 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402278294 rs1203249033 |
305 | G>S | No |
ClinGen TOPMed |
|
|
CA298611355 COSM1388556 rs919525609 |
307 | T>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA8936275 rs756333635 |
309 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756333635 CA298611356 |
309 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553548164 CA8936276 |
310 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 310 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755045711 CA8936278 |
314 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1427667454 CA402278363 |
315 | Q>* | No |
ClinGen gnomAD |
|
|
rs1315365905 CA402278369 |
316 | A>T | No |
ClinGen TOPMed |
|
|
rs1488746098 CA402278373 |
316 | A>V | No |
ClinGen gnomAD |
|
|
rs374139204 CA8936279 |
317 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1248077714 CA402278382 |
318 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA402278391 rs1438854082 |
319 | Q>* | No |
ClinGen gnomAD |
|
|
CA8936281 rs757060130 |
319 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1381840761 CA402278406 |
321 | P>A | No |
ClinGen gnomAD |
|
|
rs1319659059 CA402278410 |
321 | P>L | No |
ClinGen TOPMed |
|
|
CA8936282 rs781038745 |
322 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157332782 CA402278419 |
323 | Q>P | No |
ClinGen TOPMed |
|
|
rs769588442 CA8936284 |
325 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA298611357 rs1035526695 |
328 | Y>C | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q15555
[MIM: 616734]: Skin creases, congenital symmetric circumferential, 2 (CSCSC2)
An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. {ECO:0000269|PubMed:26637975}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. {ECO:0000269|PubMed:26637975}. Note=The disease is caused by variants affecting the gene represented in this entry.
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic microtubule | Any microtubule in the cytoplasm of a cell. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
| microtubule plus-end | The growing (plus) end of a microtubule. In vitro, microtubules polymerize more quickly at the plus end than at the minus end. In vivo, microtubule growth occurs only at the plus end, and the plus end switches between periods of growth and shortening, a behavior known as dynamic instability. |
| spindle midzone | The area in the center of the spindle where the spindle microtubules from opposite poles overlap. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| microtubule plus-end binding | Binding to the plus end of a microtubule. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
8 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. |
| positive regulation of ARF protein signal transduction | Any process that activates or increases the frequency, rate or extent of ARF protein signal transduction. |
| positive regulation of focal adhesion disassembly | Any process that activates or increases the frequency, rate or extent of disaggregation of a focal adhesion into its constituent components. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| positive regulation of keratinocyte migration | Any process that activates or increases the frequency, rate or extent of keratinocyte migration. |
| protein localization to microtubule plus-end | A process in which a protein is transported to, or maintained in, a location at a microtubule plus-end. |
| 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. |
| spindle assembly | The aggregation, arrangement and bonding together of a set of components to form the spindle, the array of microtubules and associated molecules that serves to move duplicated chromosomes apart. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3ZBD9 | MAPRE1 | Microtubule-associated protein RP/EB family member 1 | Bos taurus (Bovine) | SS |
| Q5ZLC7 | MAPRE1 | Microtubule-associated protein RP/EB family member 1 | Gallus gallus (Chicken) | SS |
| Q15691 | MAPRE1 | Microtubule-associated protein RP/EB family member 1 | Homo sapiens (Human) | EV |
| Q9UPY8 | MAPRE3 | Microtubule-associated protein RP/EB family member 3 | Homo sapiens (Human) | SS |
| Q61166 | Mapre1 | Microtubule-associated protein RP/EB family member 1 | Mus musculus (Mouse) | SS |
| Q6PER3 | Mapre3 | Microtubule-associated protein RP/EB family member 3 | Mus musculus (Mouse) | SS |
| Q8R001 | Mapre2 | Microtubule-associated protein RP/EB family member 2 | Mus musculus (Mouse) | PR |
| Q5XIT1 | Mapre3 | Microtubule-associated protein RP/EB family member 3 | Rattus norvegicus (Rat) | SS |
| Q66HR2 | Mapre1 | Microtubule-associated protein RP/EB family member 1 | Rattus norvegicus (Rat) | SS |
| Q9FJJ5 | EB1B | Microtubule-associated protein RP/EB family member 1B | Arabidopsis thaliana (Mouse-ear cress) | EV |
| Q7XJ60 | EB1A | Microtubule-associated protein RP/EB family member 1A | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q6P848 | mapre1 | Microtubule-associated protein RP/EB family member 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPGPTQTLSP | NGENNNDIIQ | DNNGTIIPFR | KHTVRGERSY | SWGMAVNVYS | TSITQETMSR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HDIIAWVNDI | VSLNYTKVEQ | LCSGAAYCQF | MDMLFPGCIS | LKKVKFQAKL | EHEYIHNFKL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LQASFKRMNV | DKVIPVEKLV | KGRFQDNLDF | IQWFKKFYDA | NYDGKEYDPV | EARQGQDAIP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PPDPGEQIFN | LPKKSHHANS | PTAGAAKSSP | AAKPGSTPSR | PSSAKRASSS | GSASKSDKDL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ETQVIQLNEQ | VHSLKLALEG | VEKERDFYFG | KLREIELLCQ | EHGQENDDLV | QRLMDILYAS |
| 310 | 320 | ||||
| EEHEGHTEEP | EAEEQAHEQQ | PPQQEEY |