Q13554
EV
Gene name |
CAMK2B (CAM2, CAMK2, CAMKB) |
Protein name |
Calcium/calmodulin-dependent protein kinase type II subunit beta |
Names |
CaM kinase II subunit beta, CaMK-II subunit beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:816 |
EC number |
2.7.11.17: Protein-serine/threonine kinases |
Protein Class |
SERINE/THREONINE-PROTEIN KINASE (PTHR24347) |
Descriptions
Calcium/calmodulin-dependent protein kinase II (CaMKII) is a serine/threonine kinase that is highly abundant in the brain, especially in the postsynaptic density (PSD). CaMKII forms a homomeric or heteromeric dodecamer of four different isoforms (α, β, γ, δ) encoded by four genes (CAMK2A, CAMK2B, CAMK2G, and CAMK2D, respectively), and α and β isoforms are predominant in the brain. In the resting state, the kinase activity of each subunit of CaMKII is inhibited by binding of the regulatory segment of CaMKII to the substrate binding groove of its kinase domain, which is called autoinhibition. When Ca2+-bound calmodulin (Ca2+/CaM) increases upon intracellular Ca2+ elevation, Ca2+/CaM binding to the regulatory segment dissociates the segment from the kinase domain, and within the regulatory segment, Thr286 in CaMKIIα and Thr287 in CaMKIIβ are phosphorylated by adjacent subunits, preventing the segment from returning to the kinase domain. This CaMKII activity is essential for neuronal plasticity and learning.
Autoinhibitory domains (AIDs)
Target domain |
14-272 (Protein kinase domain) |
Relief mechanism |
Partner binding |
Assay |
Mutagenesis experiment |
Accessory elements
156-179 (Activation loop from InterPro)
Target domain |
14-272 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Rellos P et al. (2010) "Structure of the CaMKIIdelta/calmodulin complex reveals the molecular mechanism of CaMKII kinase activation", PLoS biology, 8, e1000426
- Akita T et al. (2018) "De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders", Annals of clinical and translational neurology, 5, 280-296
Autoinhibited structure
Activated structure
5 structures for Q13554
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3BHH | X-ray | 240 A | A/B/C/D | 11-303 | PDB |
| 7URW | X-ray | 311 A | A/B/C/D/E/F/G | 534-666 | PDB |
| 7URY | X-ray | 264 A | A/B/C/D/E/F/G | 534-666 | PDB |
| 7URZ | X-ray | 345 A | A/B/C/G | 534-666 | PDB |
| AF-Q13554-F1 | Predicted | AlphaFoldDB |
350 variants for Q13554
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000577898 RCV000760472 rs1554434435 CA367379940 RCV000516157 |
29 | R>* | Intellectual disability Intellectual disability, autosomal dominant 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA367370474 RCV000516161 RCV000577922 VAR_080589 rs1554402092 |
110 | E>K | MRD54; decreased protein abundance; increased autophosphorylation; decreased neuronal migration Intellectual disability Intellectual disability, autosomal dominant 54 [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000516163 VAR_080590 RCV000623203 CA367366362 RCV000577890 rs1554389088 |
139 | P>L | MRD54; decreased protein abundance; increased autophosphorylation; decreased neuronal migration Intellectual disability Intellectual disability, autosomal dominant 54 Inborn genetic diseases [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2096701703 RCV001267540 |
150 | G>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2096699885 RCV001267413 |
175 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA367365085 rs1554387293 VAR_081162 RCV000678219 |
213 | P>L | Intellectual disability, autosomal dominant 54 MRD54 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1554386687 RCV000516159 RCV000577912 VAR_080591 CA367364320 COSM1549766 |
237 | E>K | lung Intellectual disability urinary_tract MRD54; no effect on protein abundance; increased autophosphorylation; decreased neuronal migration Intellectual disability, autosomal dominant 54 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1554385203 VAR_081163 RCV000678220 CA367363610 |
284 | R>S | Intellectual disability, autosomal dominant 54 MRD54 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2096680726 RCV001260651 |
295 | N>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000624255 RCV000516162 CA367363495 rs1554385111 VAR_080592 RCV000577892 |
301 | K>E | Intellectual disability Intellectual disability, autosomal dominant 54 MRD54; no effect on protein abundance; loss of autophosphorylation; changed function in neuronal migration Inborn genetic diseases [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2096555926 RCV001260650 |
444 | P>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1344342135 CA367373279 RCV001267607 |
454 | L>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2096392954 RCV001253753 |
552 | G>missing | Intellectual disability, autosomal dominant 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1489151076 RCV001880126 CA367368101 RCV001266837 |
647 | D>N | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA367553527 rs1488399289 |
2 | A>S | No |
ClinGen TOPMed |
|
|
CA367553483 rs1483027166 |
5 | V>M | No |
ClinGen gnomAD |
|
|
CA367553455 rs1563141925 |
6 | T>N | No |
ClinGen Ensembl |
|
|
rs1211025603 CA367553422 |
8 | T>S | No |
ClinGen gnomAD |
|
|
CA367553356 rs1327510300 |
12 | D>E | No |
ClinGen gnomAD |
|
|
rs751520988 CA4240880 |
13 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1288344957 CA367553351 |
13 | E>K | No |
ClinGen gnomAD |
|
|
rs1340565139 CA367553319 |
16 | L>P | No |
ClinGen gnomAD |
|
|
rs1198809863 CA367379933 |
29 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4240849 rs774834635 |
30 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4240848 rs771521406 |
33 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771521406 CA367379867 |
33 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs921406995 CA157928039 |
34 | L>F | No |
ClinGen TOPMed |
|
|
rs1584585336 CA367379826 |
36 | T>P | No |
ClinGen Ensembl |
|
|
CA4240846 rs534044589 |
37 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367379735 rs1475372090 |
40 | Y>F | No |
ClinGen TOPMed |
|
|
rs748466047 CA4240844 COSM601242 |
44 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA157908696 rs903714376 |
63 | R>P | No |
ClinGen Ensembl |
|
|
rs758417712 CA4240820 |
66 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4240819 rs745930853 |
66 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs745930853 CA367373505 |
66 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA367373409 rs1206764113 |
73 | I>V | No |
ClinGen gnomAD |
|
|
CA4240795 rs780774430 |
75 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4240793 rs766018083 |
78 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs766018083 CA4240792 |
78 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA367371978 rs1192876011 |
82 | E>D | No |
ClinGen gnomAD |
|
|
rs200233877 CA157904929 |
84 | G>R | No |
ClinGen 1000Genomes |
|
|
CA4240790 rs754406437 |
89 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1173032650 CA367371835 |
91 | D>N | No |
ClinGen TOPMed |
|
|
rs781715401 CA4240732 |
124 | V>I | No |
ClinGen ExAC |
|
|
CA4240730 rs576987913 |
130 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA367368789 rs1267339772 |
133 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4240694 rs772426145 |
145 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4240693 rs746289450 |
151 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1025234020 CA157892152 |
162 | I>F | No |
ClinGen Ensembl |
|
|
CA367366068 rs1303270924 |
162 | I>T | No |
ClinGen gnomAD |
|
|
COSM1549765 rs1337288705 CA367366001 |
168 | Q>K | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1184743239 CA367365971 |
170 | A>S | No |
ClinGen gnomAD |
|
|
CA367365723 rs1584102674 |
185 | V>G | No |
ClinGen Ensembl |
|
|
rs1477202799 CA367365704 |
187 | R>C | No |
ClinGen TOPMed |
|
|
CA157891987 rs865933857 |
188 | K>T | No |
ClinGen Ensembl |
|
|
CA4240665 rs751458189 |
189 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs956111777 CA157891943 |
194 | P>L | No |
ClinGen TOPMed |
|
|
rs1584092614 CA367365307 |
202 | V>G | No |
ClinGen Ensembl |
|
|
CA367365147 rs1584092386 |
211 | Y>C | No |
ClinGen Ensembl |
|
|
CA367365117 rs1238749139 |
212 | P>A | No |
ClinGen gnomAD |
|
|
rs1359771547 CA367365094 |
213 | P>S | No |
ClinGen gnomAD |
|
|
rs1288416326 CA367364595 |
229 | G>S | No |
ClinGen gnomAD |
|
|
CA367364546 rs1425366555 |
230 | A>V | No |
ClinGen gnomAD |
|
|
CA157891232 rs891289416 |
231 | Y>H | No |
ClinGen TOPMed |
|
|
CA4240603 rs373043381 |
234 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367364133 rs1256260822 |
245 | A>V | No |
ClinGen TOPMed |
|
|
rs1584087052 CA367363943 |
254 | T>I | No |
ClinGen Ensembl |
|
|
rs1399945084 CA367363950 |
254 | T>S | No |
ClinGen gnomAD |
|
|
rs1421318771 CA367363924 |
255 | I>T | No |
ClinGen TOPMed |
|
|
rs754258634 CA4240598 |
255 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367363906 rs1584086882 |
256 | N>T | No |
ClinGen Ensembl |
|
|
CA4240596 rs760887147 |
258 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1453717415 CA367363863 |
259 | K>Q | No |
ClinGen gnomAD |
|
|
CA157890835 rs140934351 |
262 | T>I | No |
ClinGen ESP gnomAD |
|
|
rs1562871726 CA367363782 |
263 | A>V | No |
ClinGen Ensembl |
|
|
rs1562871664 CA367363771 |
264 | H>P | No |
ClinGen Ensembl |
|
|
rs767719361 CA4240594 |
266 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4240593 rs759654384 |
270 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367363675 rs1487965817 |
275 | R>C | No |
ClinGen gnomAD |
|
|
CA157890305 COSM73998 rs769713153 |
275 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1312543484 CA367363661 |
277 | T>K | No |
ClinGen TOPMed |
|
|
rs771666855 CA4240562 |
281 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1584062208 CA367362913 |
306 | T>P | No |
ClinGen Ensembl |
|
|
CA4240538 rs748663090 |
312 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA367362497 rs1245515229 |
320 | T>P | No |
ClinGen gnomAD |
|
|
rs1245515229 CA367362489 |
320 | T>S | No |
ClinGen gnomAD |
|
|
rs1584042469 CA367362477 |
321 | T>P | No |
ClinGen Ensembl |
|
|
rs867587128 CA157888244 |
322 | A>T | No |
ClinGen gnomAD |
|
|
rs371618486 CA4240522 |
323 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367362415 rs1251724404 |
323 | P>S | No |
ClinGen Ensembl |
|
|
rs1032682791 CA157888216 |
324 | A>S | No |
ClinGen TOPMed |
|
|
CA367362353 rs1239169240 |
326 | M>T | No |
ClinGen gnomAD |
|
|
CA4240520 rs369063061 |
326 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1339440353 CA367362311 |
327 | S>F | No |
ClinGen TOPMed |
|
|
CA367362306 rs1204418539 |
328 | T>P | No |
ClinGen TOPMed |
|
|
rs1317099616 CA367362275 |
329 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1317099616 CA367362279 |
329 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA367362271 rs1394172840 |
329 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367362270 rs1289568154 |
330 | A>T | No |
ClinGen gnomAD |
|
|
rs1043165989 CA157888187 |
331 | S>P | No |
ClinGen Ensembl |
|
|
rs560190297 CA367362232 |
332 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560190297 CA4240518 RCV001171987 |
332 | G>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA367362168 rs1445631813 |
335 | M>I | No |
ClinGen gnomAD |
|
|
rs1158204114 CA367362181 |
335 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1169467321 CA367362188 |
335 | M>V | No |
ClinGen TOPMed |
|
|
CA157888184 rs1021196377 |
338 | V>L | No |
ClinGen TOPMed |
|
|
CA157922985 rs773451547 |
343 | S>N | No |
ClinGen gnomAD |
|
|
CA367377482 rs773451547 |
343 | S>T | No |
ClinGen gnomAD |
|
|
CA367377445 rs1562841357 |
346 | N>S | No |
ClinGen Ensembl |
|
|
CA367377371 rs1315953612 |
352 | V>A | No |
ClinGen gnomAD |
|
|
CA367377369 rs1315953612 |
352 | V>G | No |
ClinGen gnomAD |
|
|
CA367377309 rs1170478984 |
354 | P>L | No |
ClinGen gnomAD |
|
|
CA4240481 rs368239239 |
354 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs539202355 CA4240480 |
355 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs774876084 CA4240479 |
356 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA157922755 rs984553405 |
357 | N>D | No |
ClinGen TOPMed |
|
|
CA367377263 rs1335272520 |
358 | S>N | No |
ClinGen TOPMed |
|
|
CA4240478 rs771385014 |
361 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237510151 CA367377212 |
362 | S>N | No |
ClinGen gnomAD |
|
|
CA4240476 rs375397173 |
365 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375397173 CA4240475 COSM1199466 |
365 | A>T | oesophagus large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs867728010 CA367377108 |
370 | G>R | No |
ClinGen gnomAD |
|
|
CA157922703 rs867728010 |
370 | G>W | No |
ClinGen gnomAD |
|
|
CA4240474 rs748259717 |
371 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA157922694 rs918980747 |
371 | T>M | No |
ClinGen TOPMed |
|
|
CA367377064 rs1238433773 |
373 | P>H | No |
ClinGen gnomAD |
|
|
CA367377061 rs1238433773 |
373 | P>R | No |
ClinGen gnomAD |
|
|
CA4240472 rs754924723 |
373 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1376547619 RCV001311274 CA367377035 |
375 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA4240470 rs779826525 |
376 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367377001 rs1562839556 |
377 | L>R | No |
ClinGen Ensembl |
|
|
CA4240451 rs746959677 |
381 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4240450 rs746959677 |
381 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1583938856 CA367376375 |
382 | T>P | No |
ClinGen Ensembl |
|
|
rs370415166 CA4240448 |
383 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1478203275 CA367376359 |
384 | I>V | No |
ClinGen gnomAD |
|
|
CA367376327 rs1191559981 |
385 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs750201545 CA4240447 |
385 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs763666251 CA4240443 |
390 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216262587 CA367375326 |
396 | D>E | No |
ClinGen gnomAD |
|
|
CA367375313 rs1562825322 |
397 | S>N | No |
ClinGen Ensembl |
|
|
CA367375239 rs1321613429 |
402 | I>T | No |
ClinGen TOPMed |
|
|
rs1316687114 CA367375240 |
402 | I>V | No |
ClinGen gnomAD |
|
|
CA157919736 RCV001280691 rs936218134 |
404 | D>N | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs748985577 CA4240426 |
407 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274079126 CA367375125 |
407 | A>V | No |
ClinGen gnomAD |
|
|
CA157919731 rs372707181 |
408 | K>N | No |
ClinGen ESP TOPMed |
|
|
rs1562818686 CA367374836 |
410 | P>L | No |
ClinGen Ensembl |
|
|
rs1554364694 CA367374832 |
411 | R>K | No |
ClinGen Ensembl |
|
|
CA367374813 rs1268348390 |
412 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1421929860 CA367374793 |
414 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1315502870 CA367374702 |
417 | S>N | No |
ClinGen gnomAD |
|
|
CA367374620 rs1227211856 |
421 | R>G | No |
ClinGen TOPMed |
|
|
CA4240403 rs370915741 |
422 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA367374585 rs1258856700 |
422 | G>S | No |
ClinGen gnomAD |
|
|
CA4240404 rs370915741 |
422 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA367374556 rs1216676516 |
423 | S>A | No |
ClinGen TOPMed |
|
|
CA4240402 rs536606877 |
423 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs983736422 CA157918249 |
424 | G>E | No |
ClinGen Ensembl |
|
|
rs1437336560 CA367374542 |
424 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA157918247 rs955151983 |
425 | A>P | No |
ClinGen Ensembl |
|
|
COSM227507 rs376228133 CA4240400 |
426 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1158203436 CA367374502 |
427 | E>K | No |
ClinGen gnomAD |
|
|
rs1482341374 CA367374486 |
428 | A>T | No |
ClinGen TOPMed |
|
|
CA157918225 rs548090397 |
429 | E>G | No |
ClinGen 1000Genomes gnomAD |
|
|
COSM1698625 CA157918231 rs1049233035 |
429 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1314702076 CA367374424 |
431 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA367374402 rs1394382306 |
432 | L>P | No |
ClinGen gnomAD |
|
|
CA367374368 rs1378469789 |
433 | P>L | No |
ClinGen gnomAD |
|
|
CA367374331 rs1299068073 |
435 | P>L | No |
ClinGen gnomAD |
|
|
rs201975711 CA4240396 COSM1450912 |
437 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs754175758 CA4240394 |
439 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs972983607 CA157918208 |
441 | S>R | No |
ClinGen TOPMed |
|
|
rs764392617 CA4240393 |
442 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA367374113 rs1206321745 |
444 | P>R | No |
ClinGen Ensembl |
|
|
CA367374119 rs1421574475 |
444 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA367374117 rs1421574475 |
444 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA157918198 rs961587393 |
445 | A>V | No |
ClinGen TOPMed |
|
|
rs773750991 CA4240338 |
447 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367374072 rs190242175 |
447 | S>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs190242175 CA157918196 |
447 | S>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs773750991 CA367373365 |
447 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340744466 CA367373359 |
448 | P>T | No |
ClinGen gnomAD |
|
|
rs781445599 CA4240335 |
455 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA157917788 rs893430420 |
457 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4240334 rs755307162 |
457 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4240332 rs542942171 |
459 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4240330 rs750505899 |
461 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1273027714 CA367373182 |
463 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs757288207 CA157917739 |
463 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757288207 CA4240328 |
463 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753741079 CA4240327 |
464 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1290485813 CA367373159 |
465 | E>A | No |
ClinGen gnomAD |
|
|
rs775071445 CA4240324 |
466 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA367373131 rs1466230358 |
467 | E>D | No |
ClinGen gnomAD |
|
|
CA4240321 rs773875653 |
467 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374476287 CA4240322 |
467 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4240320 rs770390072 |
468 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA367373129 rs1402500324 |
468 | G>S | No |
ClinGen gnomAD |
|
|
CA367373120 rs770390072 |
468 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA157917696 rs981949694 |
470 | L>V | No |
ClinGen TOPMed |
|
|
rs202187533 CA367373070 |
472 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202187533 CA4240318 |
472 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1252942045 CA367373056 |
473 | G>E | No |
ClinGen gnomAD |
|
|
CA367373038 rs1459456612 |
474 | P>H | No |
ClinGen gnomAD |
|
|
CA4240314 rs772443083 |
474 | P>S | No |
ClinGen ExAC |
|
|
rs1252609453 CA367373029 |
475 | P>A | No |
ClinGen gnomAD |
|
|
COSM3431618 rs537871427 CA4240313 |
475 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1252609453 CA367373028 |
475 | P>S | No |
ClinGen gnomAD |
|
|
rs1306631557 CA367373000 |
477 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1422587566 CA367372984 |
478 | L>R | No |
ClinGen TOPMed |
|
|
rs757353069 CA4240311 |
480 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368457756 CA367372964 |
482 | L>F | No |
ClinGen gnomAD |
|
|
rs1296591384 CA367372913 |
485 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs867514255 CA157917637 |
486 | L>M | No |
ClinGen Ensembl |
|
|
CA4240306 rs752514706 |
486 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4240304 rs759218951 |
487 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951136458 CA157917621 |
487 | S>F | No |
ClinGen TOPMed |
|
|
rs751148662 CA4240303 |
488 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs574003384 CA157917620 |
488 | S>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
rs555460132 CA4240302 VAR_045581 COSM20487 |
489 | P>L | large_intestine a colorectal adenocarcinoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA367372846 rs1249033741 |
490 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA367371756 rs1193622254 |
495 | D>N | No |
ClinGen gnomAD |
|
|
CA367371745 rs929743647 |
496 | I>S | No |
ClinGen TOPMed |
|
|
rs929743647 CA157915558 |
496 | I>T | No |
ClinGen TOPMed |
|
|
rs1334193111 CA367371702 |
500 | V>A | No |
ClinGen gnomAD |
|
|
rs768106630 CA4240262 |
500 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA367371660 rs537194603 |
503 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367371664 rs1229941607 |
503 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA367371666 rs1229941607 |
503 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4240261 rs537194603 |
503 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4240260 rs774879849 |
504 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA157915540 rs570082976 |
504 | S>P | No |
ClinGen 1000Genomes |
|
|
rs927741364 CA157915512 |
506 | T>N | No |
ClinGen TOPMed |
|
|
CA367371610 rs931493867 |
508 | E>K | No |
ClinGen Ensembl |
|
|
rs931493867 CA157915501 |
508 | E>Q | No |
ClinGen Ensembl |
|
|
CA4240255 rs35452727 |
510 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367371578 rs1463251780 |
510 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
VAR_045582 CA4240254 rs35452727 |
510 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4240256 rs35452727 |
510 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768562469 CA4240253 |
511 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA367371553 rs1422450842 |
512 | P>L | No |
ClinGen TOPMed |
|
|
rs779899109 CA4240251 |
512 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4240248 rs771401633 |
513 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745590498 CA4240249 |
513 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763648872 CA4240245 |
514 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA157915433 rs766781890 |
515 | V>A | No |
ClinGen ExAC |
|
|
CA4240242 rs766781890 |
515 | V>G | No |
ClinGen ExAC |
|
|
CA367371532 rs367731329 |
515 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4240243 rs367731329 |
515 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367731329 CA4240244 |
515 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1031006721 CA157915417 |
516 | G>R | No |
ClinGen TOPMed |
|
|
CA4240239 rs200866892 |
518 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4240240 rs200866892 |
518 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776719958 RCV000998794 CA4240237 |
519 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs768652289 CA4240236 |
520 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760616937 CA4240235 |
521 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA367371468 rs1378275801 |
521 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4240233 rs771967423 |
522 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371087765 CA4240232 |
523 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770729206 CA4240230 |
524 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748909417 CA4240229 |
525 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA367371424 rs1462662820 |
525 | I>V | No |
ClinGen TOPMed |
|
|
CA157915319 rs528355050 |
526 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4240228 rs528355050 |
526 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA157915311 rs1013428830 |
527 | G>S | No |
ClinGen Ensembl |
|
|
rs1583783050 CA367371387 |
528 | P>L | No |
ClinGen Ensembl |
|
|
CA4240226 rs752168876 |
529 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780422852 CA4240225 |
531 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312414736 CA367371345 |
532 | P>L | No |
ClinGen TOPMed |
|
|
CA4240223 rs750734346 |
533 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs370358128 CA157910123 |
534 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370358128 CA4240178 |
534 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1393489232 CA367370137 |
534 | R>W | No |
ClinGen TOPMed |
|
|
CA367370099 rs1562766446 |
537 | E>G | No |
ClinGen Ensembl |
|
|
CA367370079 rs1334807244 |
539 | I>F | No |
ClinGen TOPMed |
|
|
CA367370054 rs1244990681 |
541 | T>N | No |
ClinGen TOPMed |
|
|
CA367370058 rs1583691765 |
541 | T>P | No |
ClinGen Ensembl |
|
|
rs1356605013 CA367370047 |
542 | T>A | No |
ClinGen TOPMed |
|
|
rs1160420267 CA367370022 |
544 | Q>* | No |
ClinGen gnomAD |
|
|
CA157910110 rs373065396 |
548 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs776330459 CA4240174 |
548 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs771606853 CA4240172 |
549 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367369955 rs1292336597 |
550 | N>K | No |
ClinGen gnomAD |
|
|
CA367369936 rs1387200972 |
552 | G>A | No |
ClinGen TOPMed |
|
|
CA4240171 rs774886422 |
552 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4240170 rs771448991 |
556 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1163572646 CA367369874 |
558 | A>T | No |
ClinGen TOPMed |
|
|
CA4240169 COSM295369 rs749755008 |
558 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4240127 rs767063074 |
564 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs981667182 CA157909791 |
567 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773658061 CA4240125 |
570 | P>S | No |
ClinGen ExAC |
|
|
CA157909771 rs1035999594 |
577 | V>I | No |
ClinGen Ensembl |
|
|
rs762167090 CA4240123 |
579 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1267258071 CA367369507 |
580 | M>K | No |
ClinGen TOPMed |
|
|
rs1202178755 CA367369515 |
580 | M>V | No |
ClinGen TOPMed |
|
|
CA367369496 rs1327333288 |
581 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA367369349 rs1182519876 |
587 | F>S | No |
ClinGen TOPMed |
|
|
CA367369131 rs1352014497 |
592 | A>V | No |
ClinGen gnomAD |
|
|
rs749296914 CA4240094 |
596 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367368971 rs1287272814 |
597 | P>L | No |
ClinGen gnomAD |
|
|
rs1357180212 CA367368947 |
599 | H>Y | No |
ClinGen gnomAD |
|
|
CA367368917 rs1331928428 |
600 | T>M | No |
ClinGen gnomAD |
|
|
CA367368884 rs1413901078 |
602 | I>V | No |
ClinGen gnomAD |
|
|
rs1583679739 CA367368818 |
604 | N>T | No |
ClinGen Ensembl |
|
|
rs1455660734 CA367368773 |
607 | V>M | No |
ClinGen gnomAD |
|
|
CA367368725 rs780905919 |
608 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754627779 CA4240089 |
609 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255919334 CA367368687 |
610 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs757820225 CA157909243 |
615 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757820225 CA4240086 COSM1450910 |
615 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1326416779 CA367368555 |
617 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754439797 CA4240085 |
617 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1233579662 CA367368547 |
618 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1233579662 CA367368549 |
618 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs761209172 CA4240083 |
621 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs767955476 CA4240081 COSM145190 |
623 | T>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4240078 rs771083993 |
626 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs139081314 CA4240079 |
626 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773190468 CA4240076 |
628 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4240077 rs773190468 |
628 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4240075 rs769734307 |
629 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs780992261 CA4240073 |
630 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs375830029 CA4240071 |
631 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4240072 rs768283399 |
631 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs757988232 CA4240069 |
633 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4240068 rs200115000 |
633 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367368320 rs200115000 |
633 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200115000 CA4240067 |
633 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199710782 CA4240065 |
634 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1479321111 CA367368288 |
635 | S>N | No |
ClinGen TOPMed |
|
|
rs1065358 CA157909104 |
637 | S>F | No |
ClinGen Ensembl |
|
|
rs994631293 CA157909089 |
642 | V>L | No |
ClinGen gnomAD |
|
|
CA367368180 rs994631293 |
642 | V>M | No |
ClinGen gnomAD |
|
|
rs879551788 CA367368152 |
643 | W>* | No |
ClinGen gnomAD |
|
|
rs879551788 CA157909087 |
643 | W>C | No |
ClinGen gnomAD |
|
|
rs1410718291 CA367368140 |
644 | H>P | No |
ClinGen gnomAD |
|
|
CA367368124 rs1454449702 |
645 | R>C | No |
ClinGen TOPMed |
|
|
CA4240060 rs766495678 |
645 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs773282618 CA4240058 |
646 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4240057 rs769822221 |
646 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867389105 CA157909017 |
648 | G>D | No |
ClinGen Ensembl |
|
|
CA4240054 rs368245002 |
648 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1282961937 CA367367982 |
653 | V>L | No |
ClinGen TOPMed |
|
|
rs565318645 RCV000584951 CA4240050 |
660 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs778590827 CA4240049 |
660 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1039889497 COSM3778449 CA157908975 |
664 | P>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs753298278 CA4240047 |
664 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs755427879 CA4240045 |
665 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA157908946 rs897949633 |
667 | Q>G | No |
ClinGen TOPMed |
No associated diseases with Q13554
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.17 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24347 | SERINE/THREONINE-PROTEIN KINASE |
| PANTHER Subfamily | PTHR24347:SF403 | CALCIUM_CALMODULIN-DEPENDENT PROTEIN KINASE TYPE II SUBUNIT BETA |
| PANTHER Protein Class |
non-receptor serine/threonine protein kinase
protein modifying enzyme |
|
| PANTHER Pathway Category |
Inflammation mediated by chemokine and cytokine signaling pathway CaMK Gonadotropin-releasing hormone receptor pathway Ca/CaMK II Ionotropic glutamate receptor pathway CaMKII |
|
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| calcium- and calmodulin-dependent protein kinase complex | An enzyme complex which in eukaryotes is composed of four different chains: alpha, beta, gamma, and delta. The different isoforms assemble into homo- or heteromultimeric holoenzymes composed of 8 to 12 subunits. Catalyzes the phosphorylation of proteins to O-phosphoproteins. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endocytic vesicle membrane | The lipid bilayer surrounding an endocytic vesicle. |
| 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. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| sarcoplasmic reticulum membrane | The lipid bilayer surrounding the sarcoplasmic reticulum. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| calmodulin-dependent protein kinase activity | Calmodulin-dependent catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate. |
| identical protein binding | Binding to an identical protein or proteins. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of dendritic spine morphogenesis | Any process that increases the rate, frequency, or extent of dendritic spine morphogenesis, the process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission. |
| positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| positive regulation of synapse maturation | Any process that increases the extent of synapse maturation, the process that organizes a synapse so that it attains its fully functional state. |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of calcium ion transport | Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of dendritic spine development | Any process that modulates the rate, frequency, or extent of dendritic spine development, the process whose specific outcome is the progression of the dendritic spine over time, from its formation to the mature structure. |
| regulation of long-term neuronal synaptic plasticity | A process that modulates long-term neuronal synaptic plasticity, the ability of neuronal synapses to change long-term as circumstances require. Long-term neuronal synaptic plasticity generally involves increase or decrease in actual synapse numbers. |
| regulation of neuron migration | Any process that modulates the frequency, rate or extent of neuron migration. |
| regulation of skeletal muscle adaptation | Any process in which skeletal muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. These adaptive events occur in both muscle fibers and associated structures (motoneurons and capillaries), and they involve alterations in regulatory mechanisms, contractile properties and metabolic capacities. |
| regulation of synapse structural plasticity | Any process that modulates the frequency, rate or extent of synapse structural plasticity. Synapse structural plasticity is a type of cytoskeletal remodeling; this remodeling is induced by stimuli that can lead to long term potentiation and it can be activity-dependent or -independent. Examples of cytoskeletal changes include the formation of new spines and increase in spine size; this can be accompanied by the insertion of greater numbers of glutamate (or other neurotransmitter) receptors into the post-synaptic membrane. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
50 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2HJF7 | CAMK2D | Calcium/calmodulin-dependent protein kinase type II subunit delta | Bos taurus (Bovine) | SS |
| Q3MHJ9 | CAMK2B | Calcium/calmodulin-dependent protein kinase type II subunit beta | Bos taurus (Bovine) | SS |
| Q5ZKI0 | CAMK2D | Calcium/calmodulin-dependent protein kinase type II delta chain | Gallus gallus (Chicken) | SS |
| Q24210 | CASK | Peripheral plasma membrane protein CASK | Drosophila melanogaster (Fruit fly) | SS |
| Q00168 | CaMKII | Calcium/calmodulin-dependent protein kinase type II alpha chain | Drosophila melanogaster (Fruit fly) | SS |
| O14936 | CASK | Peripheral plasma membrane protein CASK | Homo sapiens (Human) | EV |
| Q16816 | PHKG1 | Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform | Homo sapiens (Human) | PR |
| P15735 | PHKG2 | Phosphorylase b kinase gamma catalytic chain, liver/testis isoform | Homo sapiens (Human) | PR |
| Q9UQM7 | CAMK2A | Calcium/calmodulin-dependent protein kinase type II subunit alpha | Homo sapiens (Human) | EV |
| Q13555 | CAMK2G | Calcium/calmodulin-dependent protein kinase type II subunit gamma | Homo sapiens (Human) | EV |
| Q13557 | CAMK2D | Calcium/calmodulin-dependent protein kinase type II subunit delta | Homo sapiens (Human) | EV |
| Q9H1R3 | MYLK2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Homo sapiens (Human) | EV |
| Q32MK0 | MYLK3 | Myosin light chain kinase 3 | Homo sapiens (Human) | SS |
| Q86YV6 | MYLK4 | Myosin light chain kinase family member 4 | Homo sapiens (Human) | SS |
| P11801 | PSKH1 | Serine/threonine-protein kinase H1 | Homo sapiens (Human) | SS |
| Q6P2M8 | PNCK | Calcium/calmodulin-dependent protein kinase type 1B | Homo sapiens (Human) | SS |
| Q96NX5 | CAMK1G | Calcium/calmodulin-dependent protein kinase type 1G | Homo sapiens (Human) | SS |
| Q8IU85 | CAMK1D | Calcium/calmodulin-dependent protein kinase type 1D | Homo sapiens (Human) | SS |
| Q8NCB2 | CAMKV | CaM kinase-like vesicle-associated protein | Homo sapiens (Human) | SS |
| Q14012 | CAMK1 | Calcium/calmodulin-dependent protein kinase type 1 | Homo sapiens (Human) | EV |
| O70589 | Cask | Peripheral plasma membrane protein CASK | Mus musculus (Mouse) | SS |
| Q6PHZ2 | Camk2d | Calcium/calmodulin-dependent protein kinase type II subunit delta | Mus musculus (Mouse) | SS |
| P11798 | Camk2a | Calcium/calmodulin-dependent protein kinase type II subunit alpha | Mus musculus (Mouse) | PR |
| Q923T9 | Camk2g | Calcium/calmodulin-dependent protein kinase type II subunit gamma | Mus musculus (Mouse) | SS |
| P28652 | Camk2b | Calcium/calmodulin-dependent protein kinase type II subunit beta | Mus musculus (Mouse) | SS |
| Q95266 | CAMK2D | Calcium/calmodulin-dependent protein kinase type II subunit delta | Sus scrofa (Pig) | SS |
| P15791 | Camk2d | Calcium/calmodulin-dependent protein kinase type II subunit delta | Rattus norvegicus (Rat) | SS |
| P11275 | Camk2a | Calcium/calmodulin-dependent protein kinase type II subunit alpha | Rattus norvegicus (Rat) | PR |
| P11730 | Camk2g | Calcium/calmodulin-dependent protein kinase type II subunit gamma | Rattus norvegicus (Rat) | SS |
| P08413 | Camk2b | Calcium/calmodulin-dependent protein kinase type II subunit beta | Rattus norvegicus (Rat) | SS |
| P54936 | lin-2 | Protein lin-2 | Caenorhabditis elegans | SS |
| O62305 | unc-43 | Calcium/calmodulin-dependent protein kinase type II | Caenorhabditis elegans | EV |
| Q9ZV15 | CPK20 | Calcium-dependent protein kinase 20 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SJ61 | CPK25 | Calcium-dependent protein kinase 25 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q06850 | CPK1 | Calcium-dependent protein kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38870 | CPK2 | Calcium-dependent protein kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q3E9C0 | CPK34 | Calcium-dependent protein kinase 34 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FMP5 | CPK17 | Calcium-dependent protein kinase 17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q42479 | CPK3 | Calcium-dependent protein kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38872 | CPK6 | Calcium-dependent protein kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZSA4 | CPK27 | Calcium-dependent protein kinase 27 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39016 | CPK11 | Calcium-dependent protein kinase 11 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q38869 | CPK4 | Calcium-dependent protein kinase 4 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q42396 | CPK12 | Calcium-dependent protein kinase 12 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q7XJR9 | CPK16 | Calcium-dependent protein kinase 16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q1PE17 | CPK18 | Calcium-dependent protein kinase 18 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q38997 | KIN10 | SNF1-related protein kinase catalytic subunit alpha KIN10 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FKW4 | CPK28 | Calcium-dependent protein kinase 28 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q6DGS3 | camk2d2 | Calcium/calmodulin-dependent protein kinase type II delta 2 chain | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q6DEH3 | camk2d1 | Calcium/calmodulin-dependent protein kinase type II delta 1 chain | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATTVTCTRF | TDEYQLYEDI | GKGAFSVVRR | CVKLCTGHEY | AAKIINTKKL | SARDHQKLER |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EARICRLLKH | SNIVRLHDSI | SEEGFHYLVF | DLVTGGELFE | DIVAREYYSE | ADASHCIQQI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LEAVLHCHQM | GVVHRDLKPE | NLLLASKCKG | AAVKLADFGL | AIEVQGDQQA | WFGFAGTPGY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LSPEVLRKEA | YGKPVDIWAC | GVILYILLVG | YPPFWDEDQH | KLYQQIKAGA | YDFPSPEWDT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VTPEAKNLIN | QMLTINPAKR | ITAHEALKHP | WVCQRSTVAS | MMHRQETVEC | LKKFNARRKL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KGAILTTMLA | TRNFSVGRQT | TAPATMSTAA | SGTTMGLVEQ | AKSLLNKKAD | GVKPQTNSTK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NSAAATSPKG | TLPPAALEPQ | TTVIHNPVDG | IKESSDSANT | TIEDEDAKAP | RVPDILSSVR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RGSGAPEAEG | PLPCPSPAPF | SPLPAPSPRI | SDILNSVRRG | SGTPEAEGPL | SAGPPPCLSP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ALLGPLSSPS | PRISDILNSV | RRGSGTPEAE | GPSPVGPPPC | PSPTIPGPLP | TPSRKQEIIK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TTEQLIEAVN | NGDFEAYAKI | CDPGLTSFEP | EALGNLVEGM | DFHRFYFENL | LAKNSKPIHT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TILNPHVHVI | GEDAACIAYI | RLTQYIDGQG | RPRTSQSEET | RVWHRRDGKW | QNVHFHCSGA |
| PVAPLQ |