P68400

PR
Gene name
CSNK2A1 (CK2A1)
Protein name
Casein kinase II subunit alpha
Names
CK II alpha
Species
Homo sapiens (Human)
KEGG Pathway
hsa:1457
EC number
2.7.11.1: Protein-serine/threonine kinases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

312-391 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

174-196 (Activation loop from InterPro)

Target domain

39-324 (Protein kinase domain)

Relief mechanism

Assay

References

Autoinhibited structure

Activated structure

242 structures for P68400

Entry ID Method Resolution Chain Position Source
1JWH X-ray 310 A A/B 1-337 PDB
1NA7 X-ray 240 A A 1-329 PDB
1PJK X-ray 250 A A 2-335 PDB
2PVR X-ray 160 A A 2-335 PDB
2ZJW X-ray 240 A A 1-335 PDB
3AMY X-ray 230 A A 1-335 PDB
3AT2 X-ray 160 A A 1-335 PDB
3AT3 X-ray 260 A A 1-335 PDB
3AT4 X-ray 220 A A 1-335 PDB
3AXW X-ray 250 A A 1-335 PDB
3BQC X-ray 150 A A 1-335 PDB
3C13 X-ray 195 A A 1-335 PDB
3FWQ X-ray 230 A A/B 1-335 PDB
3H30 X-ray 156 A A/B 1-334 PDB
3JUH X-ray 166 A A/B 1-335 PDB
3MB6 X-ray 175 A A 1-331 PDB
3MB7 X-ray 165 A A 1-331 PDB
3NGA X-ray 271 A A/B 1-333 PDB
3NSZ X-ray 130 A A 2-331 PDB
3OWJ X-ray 185 A A 1-331 PDB
3OWK X-ray 180 A A 1-331 PDB
3OWL X-ray 210 A A 1-331 PDB
3PE1 X-ray 160 A A 1-337 PDB
3PE2 X-ray 190 A A 1-337 PDB
3PE4 X-ray 195 A B/D 340-352 PDB
3Q04 X-ray 180 A A 3-330 PDB
3Q9W X-ray 170 A A 1-336 PDB
3Q9X X-ray 220 A A/B 1-336 PDB
3Q9Y X-ray 180 A A 1-336 PDB
3Q9Z X-ray 220 A A/B 1-336 PDB
3QA0 X-ray 250 A A/B 1-336 PDB
3R0T X-ray 175 A A 1-337 PDB
3RPS X-ray 230 A A/B 1-335 PDB
3TAX X-ray 188 A B/D 340-352 PDB
3U4U X-ray 220 A A 1-333 PDB
3U87 X-ray 290 A A/B 1-325 PDB
3U9C X-ray 320 A A/B 1-335 PDB
3W8L X-ray 240 A A/B 1-335 PDB
3WAR X-ray 104 A A 1-335 PDB
3WIK X-ray 200 A A 1-335 PDB
3WIL X-ray 290 A A 1-335 PDB
3WOW X-ray 250 A A 1-335 PDB
4DGL X-ray 300 A C/D 1-335 PDB
4FBX X-ray 233 A A 1-335 PDB
4GRB X-ray 215 A A 1-333 PDB
4GUB X-ray 220 A A 1-333 PDB
4GYW X-ray 170 A B/D 340-352 PDB
4GYY X-ray 185 A B/D 340-352 PDB
4GZ3 X-ray 190 A B/D 340-352 PDB
4IB5 X-ray 220 A A/B/C 1-335 PDB
4KWP X-ray 125 A A 1-336 PDB
4MD7 X-ray 310 A E/F/G/H 1-391 PDB
4MD8 X-ray 330 A E/F/G/H 1-391 PDB
4MD9 X-ray 350 A E/F/G/H/K/L/M/P 1-336 PDB
4NH1 X-ray 330 A A/B 1-335 PDB
4RLL X-ray 185 A A 1-335 PDB
4UB7 X-ray 210 A A 1-335 PDB
4UBA X-ray 300 A A/B 1-335 PDB
5B0X X-ray 230 A A 1-335 PDB
5CLP X-ray 168 A A/B 2-329 PDB
5CQU X-ray 235 A A 1-335 PDB
5CQW X-ray 265 A A/B 1-335 PDB
5CS6 X-ray 188 A A/B 2-329 PDB
5CSH X-ray 159 A A/B 2-329 PDB
5CSP X-ray 150 A A 2-329 PDB
5CSV X-ray 138 A A 2-329 PDB
5CT0 X-ray 201 A A/B 2-329 PDB
5CTP X-ray 203 A A/B 2-329 PDB
5CU0 X-ray 218 A A/B 2-329 PDB
5CU2 X-ray 171 A A/B 2-329 PDB
5CU3 X-ray 179 A A/B 2-329 PDB
5CU4 X-ray 156 A A 2-329 PDB
5CU6 X-ray 136 A A 2-329 PDB
5CVF X-ray 163 A A 2-329 PDB
5CVG X-ray 125 A A 2-329 PDB
5CVH X-ray 185 A A/B 2-329 PDB
5CX9 X-ray 173 A A/B 2-329 PDB
5H8B X-ray 255 A A/B 1-333 PDB
5H8E X-ray 215 A A/B 1-333 PDB
5H8G X-ray 200 A A 1-333 PDB
5HGV X-ray 205 A B/D 340-352 PDB
5KU8 X-ray 222 A A/B 2-332 PDB
5KWH X-ray 212 A A/B 1-333 PDB
5M44 X-ray 271 A A 1-335 PDB
5M4C X-ray 194 A A 1-335 PDB
5M4F X-ray 152 A A 1-335 PDB
5M4I X-ray 222 A A 1-335 PDB
5MMF X-ray 199 A A/B 2-329 PDB
5MMR X-ray 200 A A/B 2-329 PDB
5MO5 X-ray 204 A A/B 2-329 PDB
5MO6 X-ray 182 A A/B 2-329 PDB
5MO7 X-ray 215 A A/B 2-329 PDB
5MO8 X-ray 182 A A/B 2-329 PDB
5MOD X-ray 208 A A/B 2-329 PDB
5MOE X-ray 189 A A/B 2-329 PDB
5MOH X-ray 138 A A 2-329 PDB
5MOT X-ray 209 A A 2-329 PDB
5MOV X-ray 220 A A 3-327 PDB
5MOW X-ray 186 A A/B 2-329 PDB
5MP8 X-ray 192 A A/B 2-329 PDB
5MPJ X-ray 214 A A/B 2-329 PDB
5N1V X-ray 252 A A/B 1-336 PDB
5N9K X-ray 164 A A 1-335 PDB
5N9L X-ray 179 A A 1-335 PDB
5N9N X-ray 184 A A 1-335 PDB
5NQC X-ray 200 A A 2-335 PDB
5OMY X-ray 195 A A 1-391 PDB
5ONI X-ray 200 A A/B 1-391 PDB
5OQU X-ray 232 A A/B 2-329 PDB
5ORH X-ray 175 A A/B 2-329 PDB
5ORJ X-ray 199 A A/B 2-329 PDB
5ORK X-ray 214 A A/B 2-329 PDB
5OS7 X-ray 166 A A/B 2-329 PDB
5OS8 X-ray 155 A A 2-329 PDB
5OSL X-ray 195 A A 2-329 PDB
5OSP X-ray 191 A A 2-329 PDB
5OSR X-ray 157 A A 2-329 PDB
5OSU X-ray 163 A A 2-329 PDB
5OSZ X-ray 200 A A 2-329 PDB
5OT5 X-ray 163 A A/B 2-329 PDB
5OT6 X-ray 194 A A/B 2-329 PDB
5OTD X-ray 157 A A/B 2-329 PDB
5OTH X-ray 169 A A/B 2-329 PDB
5OTI X-ray 159 A A 2-329 PDB
5OTL X-ray 157 A A/B 2-329 PDB
5OTO X-ray 151 A A/B 2-329 PDB
5OTP X-ray 157 A A/B 2-329 PDB
5OTQ X-ray 138 A A 2-329 PDB
5OTR X-ray 152 A A 2-329 PDB
5OTS X-ray 190 A A 2-329 PDB
5OTY X-ray 148 A A 2-329 PDB
5OTZ X-ray 146 A A 2-329 PDB
5OUE X-ray 201 A A/B 2-329 PDB
5OUL X-ray 134 A A 2-329 PDB
5OUM X-ray 205 A A/B 2-329 PDB
5OUU X-ray 181 A A/B 2-329 PDB
5OWH X-ray 230 A A 1-335 PDB
5OWL X-ray 223 A A/B 1-335 PDB
5OYF X-ray 154 A A 2-329 PDB
5T1H X-ray 211 A A/B 1-333 PDB
5VIE X-ray 260 A B/D 339-352 PDB
5VIF X-ray 225 A B 339-352 PDB
5ZN0 Other 110 A A 1-329 PDB
5ZN1 X-ray 105 A A 1-329 PDB
5ZN2 X-ray 120 A A 1-329 PDB
5ZN3 X-ray 150 A A 1-329 PDB
5ZN4 X-ray 165 A A 1-329 PDB
5ZN5 X-ray 170 A A 1-329 PDB
6A1C X-ray 168 A A 1-335 PDB
6E37 X-ray 253 A B 339-352 PDB
6EHK X-ray 140 A A 2-329 PDB
6EHU X-ray 195 A A/B 2-329 PDB
6EII X-ray 194 A A/B 2-329 PDB
6FVF X-ray 147 A A 2-329 PDB
6FVG X-ray 160 A A 2-329 PDB
6GIH X-ray 196 A A 2-329 PDB
6GMD X-ray 166 A A/B 2-329 PDB
6HBN X-ray 159 A A/B 1-335 PDB
6HME X-ray 185 A A/B 1-335 PDB
6HNW X-ray 200 A A 1-336 PDB
6HNY X-ray 165 A A 1-336 PDB
6HOP X-ray 155 A A 1-336 PDB
6HOQ X-ray 155 A A 1-336 PDB
6HOR X-ray 180 A A 1-336 PDB
6HOT X-ray 150 A A 1-336 PDB
6HOU X-ray 180 A A 1-336 PDB
6JWA X-ray 178 A A 1-335 PDB
6L1Z X-ray 191 A A 1-335 PDB
6L21 X-ray 205 A A 1-335 PDB
6L22 X-ray 212 A A 1-335 PDB
6L23 X-ray 197 A A 1-335 PDB
6L24 X-ray 240 A A 1-335 PDB
6Q38 X-ray 174 A A 3-329 PDB
6Q4Q X-ray 145 A A/B 3-329 PDB
6QY7 X-ray 210 A A/B 1-337 PDB
6RB1 X-ray 150 A A 1-336 PDB
6RCB X-ray 205 A A 1-336 PDB
6RCM X-ray 170 A A 1-336 PDB
6RFE X-ray 154 A A 1-336 PDB
6RFF X-ray 180 A A 1-336 PDB
6SPW X-ray 160 A A 1-391 PDB
6SPX X-ray 199 A A 1-335 PDB
6TEI X-ray 176 A A/B 1-335 PDB
6TLL X-ray 188 A A 1-391 PDB
6TLO X-ray 169 A A 1-391 PDB
6TLP X-ray 193 A A 1-391 PDB
6TLR X-ray 164 A A 1-391 PDB
6TLS X-ray 146 A A 1-391 PDB
6TLU X-ray 181 A AAA 1-391 PDB
6TLV X-ray 167 A A 1-391 PDB
6TLW X-ray 173 A A 1-391 PDB
6YPG X-ray 151 A A 2-329 PDB
6YPH X-ray 167 A A/B 2-329 PDB
6YPJ X-ray 164 A A 2-329 PDB
6YPK X-ray 179 A A 2-329 PDB
6YPN X-ray 158 A B 1-329 PDB
6YUL X-ray 240 A AAA/GGG 1-391 PDB
6YUM X-ray 275 A AAA/GGG 1-391 PDB
6YZH X-ray 119 A A 3-329 PDB
6Z19 X-ray 147 A B 2-329 PDB
6Z83 X-ray 217 A AAA/BBB 1-337 PDB
6Z84 X-ray 250 A AAA/BBB 1-337 PDB
7A49 X-ray 203 A A/B 1-335 PDB
7A4B X-ray 206 A A/B 1-335 PDB
7A4C X-ray 250 A A/B 1-335 PDB
7A4Q X-ray 142 A A 3-329 PDB
7AT5 X-ray 177 A A/B 1-335 PDB
7AY9 X-ray 225 A A/B 1-336 PDB
7AYA X-ray 245 A A/B 1-336 PDB
7B8H X-ray 134 A A 1-335 PDB
7B8I X-ray 255 A A/B 1-335 PDB
7BU4 X-ray 170 A A 1-335 PDB
7L1X X-ray 180 A A 2-335 PDB
7PSU X-ray 177 A A/B 1-391 PDB
7QGB X-ray 258 A A 1-391 PDB
7QGC X-ray 255 A A 1-391 PDB
7QGD X-ray 230 A A 1-391 PDB
7QGE X-ray 227 A A 1-391 PDB
7QUX X-ray 148 A A 2-329 PDB
7X4H X-ray 177 A A 1-335 PDB
7Z39 X-ray 160 A A 2-329 PDB
7ZWE X-ray 147 A A 3-329 PDB
7ZWG X-ray 131 A A 2-329 PDB
7ZY0 X-ray 144 A A 2-329 PDB
7ZY2 X-ray 151 A A 2-329 PDB
7ZY5 X-ray 182 A A/B 2-329 PDB
7ZY8 X-ray 185 A A/B 2-329 PDB
7ZYD X-ray 140 A A 2-329 PDB
7ZYK X-ray 131 A A 2-329 PDB
7ZYO X-ray 158 A A 2-329 PDB
7ZYR X-ray 185 A A 2-329 PDB
8AE7 X-ray 128 A A 2-329 PDB
8AEC X-ray 109 A A 2-329 PDB
8AEK X-ray 165 A A 2-329 PDB
8AEM X-ray 160 A A 2-329 PDB
8BGC X-ray 280 A A/B 1-337 PDB
8C5Q X-ray 250 A A/B 1-337 PDB
8P05 X-ray 245 A A/B 1-337 PDB
8P07 X-ray 240 A A/B 1-337 PDB
8QWY X-ray 260 A A/B 1-337 PDB
8QWZ X-ray 260 A A/B 1-337 PDB
AF-P68400-F1 Predicted AlphaFoldDB

202 variants for P68400

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1568532361
RCV000757922
 1 M>V Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinVar
dbSNP
RCV001265234
rs1600392059
RCV001008513
 32 E>missing Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinVar
dbSNP
RCV000311556
CA10603364
rs886041956
RCV001265235
 47 R>G Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA358399
VAR_077045
RCV000622338
rs869312845
RCV000239488
 47 R>Q Variant assessed as Somatic; impact. Okur-Chung neurodevelopmental syndrome Inborn genetic diseases OCNDS [NCI-TCGA, ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
RCV000497586
rs869312849
RCV001249616
CA407940083
 50 Y>C Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_077046
rs869312849
CA358409
RCV000239568
 50 Y>S Okur-Chung neurodevelopmental syndrome OCNDS [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs1555764992
CA407940032
RCV000677689
 51 S>R Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001254149
rs2018549058
 52 E>K Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinVar
dbSNP
CA16043218
rs1057518092
RCV000991067
RCV000413359
RCV000509105
 80 R>H CSNK2A1- Related Disorders Variant assessed as Somatic; impact. Okur-Chung neurodevelopmental syndrome [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
rs2018375147
RCV001335875
 126 Q>missing Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinVar
dbSNP
RCV001266000
rs2018374647
 128 L>* Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
RCV001249615
RCV000479609
CA16620934
rs1064795110
 156 D>E Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA407933108
rs1568512728
RCV000757921
 156 D>H Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1568512728
RCV001265461
 156 D>Y Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinVar
dbSNP
RCV001253038
rs2018334971
 158 K>E Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinVar
dbSNP
rs2018334830
RCV001655705
RCV001252211
 160 H>R Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinVar
dbSNP
rs2018334698
RCV001335876
 161 N>D Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinVar
dbSNP
RCV001267251
rs2018253563
 175 D>E Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
rs869312848
RCV000239534
CA358401
VAR_077047
 175 D>G Okur-Chung neurodevelopmental syndrome OCNDS [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV002289912
RCV002285380
CA407931546
RCV000623336
rs1555762734
 177 G>S Okur-Chung neurodevelopmental syndrome Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV003127746
CA310634979
RCV001269781
rs1034583315
 195 R>* Autism spectrum disorder [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_077048
RCV001267578
RCV001420211
CA358394
RCV000210367
RCV002273990
rs869312840
RCV000239482
 198 K>R Okur-Chung neurodevelopmental syndrome Inborn genetic diseases OCNDS [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
dbSNP
gnomAD
rs1555762709
RCV002473076
RCV000624144
CA407930831
 199 G>D Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA407926509
RCV000622830
rs1555761969
 261 Y>* Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001572170
RCV001265462
rs2018124491
RCV001266556
RCV003127743
 312 R>W Developmental disorder Okur-Chung neurodevelopmental syndrome Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
RCV001270882
rs2018100989
 333 R>* CSNK2A1-related neurodevelopmental syndrome [ClinVar] Yes ClinVar
dbSNP
rs2018014572
RCV003128780
RCV001335874
 356 S>T Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinVar
dbSNP
RCV001330862
CA407955397
rs1193280723
 363 P>H Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs1064796883
RCV000486828
CA16620931
RCV000678356
 382 P>L Okur-Chung neurodevelopmental syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
TCGA novel 2 S>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407941926
rs1474618651
 4 P>A No ClinGen
TOPMed
rs748335364
CA407941921
 5 V>L No ClinGen
ExAC
gnomAD
rs748335364
CA9724094
 5 V>M No ClinGen
ExAC
gnomAD
TCGA novel 5 V>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407941855
rs1425717917
 14 D>E No ClinGen
TOPMed
CA407941826
rs1167115887
 18 H>Y No ClinGen
TOPMed
CA407941790
rs1298863214
 21 R>G No ClinGen
gnomAD
rs1402734448
CA407941786
 21 R>Q No ClinGen
TOPMed
rs2018650698
RCV001310441
 24 W>* No ClinVar
dbSNP
rs1349282369
CA407941692
 28 S>A No ClinGen
gnomAD
rs920360014
CA310646031
 31 V>G No ClinGen
TOPMed
TCGA novel 33 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1395098001
CA407940525
 35 N>S No ClinGen
gnomAD
rs1301632648
CA407940261
 43 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1236777749
CA407940260
 43 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 45 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA310642511
rs868337994
 48 G>D No ClinGen
Ensembl
CA310642479
rs925044842
 54 F>S No ClinGen
TOPMed
CA9724070
rs781566434
 57 I>V No ClinGen
ExAC
gnomAD
TCGA novel 59 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs2018548367
RCV001171623
 65 V>missing No ClinVar
dbSNP
rs1225143921
CA407939670
 65 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 67 V>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 69 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 74 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407937749
rs1299574584
 75 K>R No ClinGen
TOPMed
rs777370152
CA9724035
 80 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1464019395
CA407937561
 82 I>V No ClinGen
gnomAD
CA407937473
rs1555764078
RCV000658044
 85 L>W No ClinGen
ClinVar
Ensembl
dbSNP
CA310639168
rs992671508
 86 E>Q No ClinGen
TOPMed
TCGA novel 87 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9724033
rs747745661
 89 R>K No ClinGen
ExAC
gnomAD
rs754797068
CA9724031
 92 P>R No ClinGen
ExAC
gnomAD
CA407937155
rs1251034432
 93 N>S No ClinGen
TOPMed
rs902807923
CA310639135
 94 I>V No ClinGen
Ensembl
rs138635633
CA310639127
 97 L>M No ClinGen
ESP
TOPMed
gnomAD
CA407937042
rs138635633
 97 L>V No ClinGen
ESP
TOPMed
gnomAD
rs1600383015
CA407936736
 104 P>A No ClinGen
Ensembl
CA9724013
rs768238678
 107 R>* No ClinGen
ExAC
gnomAD
CA310638715
rs967518397
 108 T>P No ClinGen
Ensembl
rs2018409484
RCV001091281
 110 A>missing No ClinVar
dbSNP
rs1328131782
CA407936496
 110 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1240575566
CA407936339
 116 V>I No ClinGen
TOPMed
gnomAD
TCGA novel 123 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1600380975
CA407934908
 125 Y>S No ClinGen
Ensembl
rs769568917
CA9723990
 127 T>M No ClinGen
ExAC
gnomAD
rs61738494
CA310637977
 128 L>F No ClinGen
Ensembl
CA310637974
rs759747009
 129 T>I No ClinGen
Ensembl
CA310637961
rs61730061
 133 I>T No ClinGen
Ensembl
rs200528441
CA9723988
 134 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757192955
CA9723987
 137 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs970324180
CA310637937
 138 Y>F No ClinGen
Ensembl
TCGA novel 148 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA310636944
rs1047268876
 152 I>V No ClinGen
Ensembl
TCGA novel 158 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1555763444
RCV000627491
 168 H>missing No ClinVar
dbSNP
CA9723961
rs777780010
 168 H>R No ClinGen
ExAC
gnomAD
rs1275701295
CA407932803
 169 R>K No ClinGen
gnomAD
CA407931656
rs1442904163
 172 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 173 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1555762737
CA407931575
RCV000656281
 176 W>R No ClinGen
ClinVar
Ensembl
dbSNP
CA407931310
rs1462805243
 185 G>D No ClinGen
gnomAD
rs1323720112
CA407931327
 185 G>R No ClinGen
gnomAD
CA9723940
rs748116533
 188 Y>C No ClinGen
ExAC
gnomAD
rs769996282
CA9723938
 190 V>A No ClinGen
ExAC
gnomAD
CA407931102
rs1177251051
 191 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 196 Y>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 205 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9723916
rs375065792
 210 D>N No ClinGen
ESP
ExAC
gnomAD
rs879999327
CA310633724
 217 S>R No ClinGen
Ensembl
CA407929347
rs1294631418
 221 M>I No ClinGen
gnomAD
CA9723914
rs778161025
 222 L>Q No ClinGen
ExAC
gnomAD
CA407929204
rs1413668405
 225 M>R No ClinGen
gnomAD
CA407929185
rs1405808790
 226 I>V No ClinGen
TOPMed
rs1373050271
CA407929111
 228 R>W No ClinGen
gnomAD
TCGA novel 229 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 232 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA310633706
RCV001039100
rs61730060
 236 H>R No ClinGen
ClinVar
Ensembl
dbSNP
rs753144709
CA9723912
 237 D>A No ClinGen
ExAC
gnomAD
rs1296884320
CA407927147
 242 L>V No ClinGen
gnomAD
rs941516483
CA310633179
 242 L>W No ClinGen
TOPMed
TCGA novel 243 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs61742776
CA310633174
 248 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs1600371498
CA407926917
 248 V>G No ClinGen
Ensembl
CA9723895
rs61742776
 248 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1474371687
CA407926697
 256 D>G No ClinGen
gnomAD
CA9723892
rs755426312
 259 D>N No ClinGen
ExAC
gnomAD
CA407926444
rs1249772221
 263 I>M No ClinGen
gnomAD
TCGA novel 265 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9723890
rs375633788
 270 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755588741
CA9723889
 272 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA407925399
rs1258475591
 278 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 281 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9723867
rs780972226
 286 H>R No ClinGen
ExAC
gnomAD
TCGA novel 287 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA310632581
rs61748900
 287 S>R No ClinGen
Ensembl
rs763918843
CA9723864
 291 H>Q No ClinGen
ExAC
gnomAD
TCGA novel 291 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407924857
rs1179907889
 293 V>I No ClinGen
TOPMed
TCGA novel 296 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 300 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 300 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407924557
rs1160432247
 302 D>G No ClinGen
TOPMed
gnomAD
CA407924441
rs1380843831
 306 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA407924437
rs1416271899
 306 R>Q No ClinGen
TOPMed
rs775102602
CA310632557
 316 R>G No ClinGen
Ensembl
rs1056954
CA310632545
 319 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1056954
CA9723859
 319 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs935102053
CA310632543
 321 H>Q No ClinGen
Ensembl
TCGA novel 322 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1390086752
CA407923848
 323 Y>F No ClinGen
TOPMed
rs1232348267
CA407923421
 326 T>A No ClinGen
TOPMed
RCV001280710
rs2018101508
 328 V>L No ClinVar
dbSNP
rs1475608415
CA407923336
 329 K>Q No ClinGen
TOPMed
CA9723840
rs754828954
 330 D>N No ClinGen
ExAC
gnomAD
rs150985783
CA9723839
 333 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs767526971
CA9723838
 335 G>A No ClinGen
ExAC
gnomAD
CA407922278
rs767526971
 335 G>D No ClinGen
ExAC
gnomAD
rs761935195
CA9723837
 336 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA9723836
rs751772350
 337 S>P No ClinGen
ExAC
gnomAD
rs191244406
CA9723834
 338 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs191244406
CA9723835
 338 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201538093
CA9723832
 339 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201877131
CA9723830
 342 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407922159
rs1407828502
 343 S>I No ClinGen
TOPMed
rs1172510158
CA407922153
 344 T>A No ClinGen
gnomAD
rs1465876027
CA407922146
 344 T>M No ClinGen
gnomAD
CA9723827
RCV000997730
rs61745803
 346 V>I No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA9723826
rs771672472
 347 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA407922066
rs1324193695
 349 A>G No ClinGen
gnomAD
rs199556093
CA9723824
 349 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs754815558
CA9723823
 350 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1363352048
TCGA novel
CA407922017
 351 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
gnomAD
rs3178812
CA310632045
 351 M>V No ClinGen
gnomAD
rs1213130837
CA407921999
 352 M>T No ClinGen
TOPMed
rs1323622928
CA407955513
 354 G>E No ClinGen
gnomAD
rs749117983
CA9723803
 355 I>V No ClinGen
ExAC
gnomAD
rs779941053
CA9723802
 358 V>L No ClinGen
ExAC
rs1317096188
CA407955455
 359 P>S No ClinGen
gnomAD
rs577076268
CA9723801
 360 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9723800
rs61747403
 360 T>I No ClinGen
ExAC
gnomAD
rs1225776012
CA407955424
 361 P>L No ClinGen
TOPMed
CA9723798
rs373111548
 363 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA9723796
rs765562031
 365 G>R No ClinGen
ExAC
gnomAD
CA407955365
rs755363910
 366 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs755363910
CA9723795
 366 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA407955330
rs1489287295
 368 A>V No ClinGen
TOPMed
gnomAD
CA9723793
rs766873805
 371 P>L No ClinGen
ExAC
gnomAD
rs1347025138
CA407955276
 372 V>G No ClinGen
gnomAD
CA9723792
rs761195012
 373 I>T No ClinGen
ExAC
gnomAD
CA310650846
rs1014947146
 376 A>T No ClinGen
TOPMed
CA407955212
rs1600365306
 377 N>T No ClinGen
Ensembl
rs1367886122
CA407955193
 378 P>L No ClinGen
gnomAD
CA407955167
rs1397626830
 380 G>R No ClinGen
gnomAD
TCGA novel 380 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1015393031
CA310650838
 381 M>I No ClinGen
Ensembl
CA407955102
rs1298239859
 383 V>I No ClinGen
gnomAD
rs766921846
CA9723789
 384 P>A No ClinGen
ExAC
gnomAD
rs761453234
CA407955071
 384 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs761453234
CA9723788
 384 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs766921846
CA407955078
 384 P>S No ClinGen
ExAC
gnomAD
CA9723787
rs773840001
 385 A>P No ClinGen
ExAC
gnomAD
CA407955011
rs1184948766
 387 A>G No ClinGen
gnomAD
rs199715749
CA9723785
 387 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA407954990
rs1264051117
 388 G>D No ClinGen
gnomAD
CA310650772
rs781253490
 389 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs781253490
CA9723782
 389 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA9723781
rs781253490
 389 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs758405049
CA9723780
 389 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA9723778
rs779257091
 391 Q>E No ClinGen
ExAC
gnomAD
rs754115866
CA9723777
 391 Q>L No ClinGen
ExAC
gnomAD
CA9723776
rs754115866
 391 Q>R No ClinGen
ExAC
gnomAD

1 associated diseases with P68400

[MIM: 617062]: Okur-Chung neurodevelopmental syndrome (OCNDS)

An autosomal dominant neurodevelopmental disorder characterized by developmental delay, intellectual disability, behavioral problems, hypotonia, speech problems, microcephaly, pachygyria and variable dysmorphic features. {ECO:0000269|PubMed:27048600}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal dominant neurodevelopmental disorder characterized by developmental delay, intellectual disability, behavioral problems, hypotonia, speech problems, microcephaly, pachygyria and variable dysmorphic features. {ECO:0000269|PubMed:27048600}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P68400

Type Name Position InterPro Accession
domain Protein kinase domain 39 - 324 IPR000719
active_site Serine/threonine-protein kinase, active site 152 - 164 IPR008271
binding_site Protein kinase, ATP binding site 45 - 68 IPR017441

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 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.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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.
NuRD complex An approximately 2 MDa multi-subunit complex that exhibits ATP-dependent chromatin remodeling activity in addition to histone deacetylase (HDAC) activity, and has been shown to establish transcriptional repression of a number of target genes in vertebrates, invertebrates and fungi. Amongst its subunits, the NuRD complex contains histone deacetylases, histone binding proteins and Mi-2-like proteins.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
protein kinase CK2 complex A protein complex that possesses protein serine/threonine kinase activity, and contains two catalytic alpha subunits and two regulatory beta subunits. Protein kinase CK2 complexes are found in nearly every subcellular compartment, and can phosphorylate many protein substrates in addition to casein.
Sin3 complex A multiprotein complex that functions broadly in eukaryotic organisms as a transcriptional repressor of protein-coding genes, through the gene-specific deacetylation of histones. Amongst its subunits, the Sin3 complex contains Sin3-like proteins, and a number of core proteins that are shared with the NuRD complex (including histone deacetylases and histone binding proteins). The Sin3 complex does not directly bind DNA itself, but is targeted to specific genes through protein-protein interactions with DNA-binding proteins.

7 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
Hsp90 protein binding Binding to Hsp90 proteins, any of a group of heat shock proteins around 90kDa in size.
identical protein binding Binding to an identical protein or proteins.
kinase activity Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
protein N-terminus binding Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein serine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.

18 GO annotations of biological process

Name Definition
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cell cycle The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
chaperone-mediated protein folding The process of inhibiting aggregation and assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure that is dependent on interaction with a chaperone.
negative regulation of apoptotic signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway.
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of a cysteine-type endopeptidase activity involved in the apoptotic process.
negative regulation of ubiquitin-dependent protein catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of ubiquitin-dependent protein catabolic process.
peptidyl-serine phosphorylation The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
peptidyl-threonine phosphorylation The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine.
positive regulation of cell growth Any process that activates or increases the frequency, rate, extent or direction of cell growth.
positive regulation of cell population proliferation Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of protein catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
positive regulation of Wnt signaling pathway Any process that activates or increases the frequency, rate or extent of Wnt signal transduction.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of cell cycle Any process that modulates the rate or extent of progression through the cell cycle.
regulation of chromosome separation Any process that modulates the frequency, rate or extent of chromosome separation.
rhythmic process Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism.
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.
Wnt signaling pathway The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P19454 CKA2 Casein kinase II subunit alpha' Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
P15790 CKA1 Casein kinase II subunit alpha Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
P20427 CSNK2A2 Casein kinase II subunit alpha' Bos taurus (Bovine) PR
P21869 Casein kinase II subunit alpha' Gallus gallus (Chicken) PR
P19784 CSNK2A2 Casein kinase II subunit alpha' Homo sapiens (Human) PR
O64816 CKA4 Casein kinase II subunit alpha-4, chloroplastic Arabidopsis thaliana (Mouse-ear cress) PR
Q08466 CKA2 Casein kinase II subunit alpha-2 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MSGPVPSRAR VYTDVNTHRP REYWDYESHV VEWGNQDDYQ LVRKLGRGKY SEVFEAINIT
70 80 90 100 110 120
NNEKVVVKIL KPVKKKKIKR EIKILENLRG GPNIITLADI VKDPVSRTPA LVFEHVNNTD
130 140 150 160 170 180
FKQLYQTLTD YDIRFYMYEI LKALDYCHSM GIMHRDVKPH NVMIDHEHRK LRLIDWGLAE
190 200 210 220 230 240
FYHPGQEYNV RVASRYFKGP ELLVDYQMYD YSLDMWSLGC MLASMIFRKE PFFHGHDNYD
250 260 270 280 290 300
QLVRIAKVLG TEDLYDYIDK YNIELDPRFN DILGRHSRKR WERFVHSENQ HLVSPEALDF
310 320 330 340 350 360
LDKLLRYDHQ SRLTAREAME HPYFYTVVKD QARMGSSSMP GGSTPVSSAN MMSGISSVPT
370 380 390
PSPLGPLAGS PVIAAANPLG MPVPAAAGAQ Q