Filter in search result
Please select a valid state.

Total number of protein in "GO:0003012" GO term:  100

Identifier UniProt Gene UniProt Accession UniProt Name Chromosome GO term Database Cancer Driver Number of missense mutations Missense mutation per residues Number of disordered residues Number of mutations in disordered regions Disordered missense mutations per residues Number of OMIM mutation
ACTA2 ACTA2 P62736 Actin, aortic smooth muscle chr10 GO:0003012 Not Cancer Driver No 50 0.133 39 4 0.103 17
ACTN3_ENST00000513398 ACTN3 Q08043 Alpha-actinin-3 chr11 GO:0003012 Not Cancer Driver No 123 0.137 135 13 0.096 0
ADORA1 ADORA1 P30542 Adenosine receptor A1 chr1 GO:0003012 Not Cancer Driver No 64 0.196 12 4 0.333 0
ADORA2B ADORA2B P29275 Adenosine receptor A2b chr17 GO:0003012 Not Cancer Driver No 23 0.069 0 0 0.0 0
AGT AGT P01019 Angiotensinogen chr1 GO:0003012 Not Cancer Driver No 85 0.179 33 10 0.303 1
ATP1A1_ENST00000295598 ATP1A1 P05023 Sodium/potassium-transporting ATPase subunit alpha-1 chr1 GO:0003012 Census Yes 115 0.112 115 16 0.139 6
ATP1A2 ATP1A2 P50993 Sodium/potassium-transporting ATPase subunit alpha-2 chr1 GO:0003012 Not Cancer Driver No 230 0.225 161 34 0.211 8
ATP1B1 ATP1B1 P05026 Sodium/potassium-transporting ATPase subunit beta-1 chr1 GO:0003012 Not Cancer Driver No 38 0.125 55 9 0.164 0
ATP2A1 ATP2A1 O14983 Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 chr16 GO:0003012 Not Cancer Driver No 157 0.157 80 11 0.138 1
ATP2A2 ATP2A2 P16615 Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 chr12 GO:0003012 Not Cancer Driver No 136 0.131 78 14 0.179 41
ATP8A2 ATP8A2 Q9NTI2 Phospholipid-transporting ATPase IB chr13 GO:0003012 Not Cancer Driver No 236 0.199 78 14 0.179 1
CAMK2D_ENST00000342666 CAMK2D Q13557 Calcium/calmodulin-dependent protein kinase type II subunit delta chr4 GO:0003012 Not Cancer Driver No 57 0.114 84 10 0.119 0
CAMTA2_ENST00000348066 CAMTA2 O94983 Calmodulin-binding transcription activator 2 chr17 GO:0003012 Not Cancer Driver No 148 0.123 613 84 0.137 0
CD38 CD38 P28907 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 chr4 GO:0003012 Not Cancer Driver No 54 0.18 3 1 0.333 0
CFLAR CFLAR O15519 CASP8 and FADD-like apoptosis regulator chr2 GO:0003012 Not Cancer Driver No 40 0.083 44 2 0.045 0
COMP COMP P49747 Cartilage oligomeric matrix protein chr19 GO:0003012 Not Cancer Driver No 97 0.128 306 52 0.17 61
CSRP3 CSRP3 P50461 Cysteine and glycine-rich protein 3 chr11 GO:0003012 Not Cancer Driver No 25 0.129 31 1 0.032 2
CYBA CYBA P13498 Cytochrome b-245 light chain chr16 GO:0003012 Not Cancer Driver No 26 0.133 66 2 0.03 12
DCANP1 DCANP1 Q8TF63 Dendritic cell nuclear protein 1 chr5 GO:0003012 Not Cancer Driver No 44 0.18 159 35 0.22 0
DLG1_ENST00000419354 DLG1 Q12959 Disks large homolog 1 chr3 GO:0003012 Not Cancer Driver No 120 0.133 460 67 0.146 0
DRD1 DRD1 P21728 D(1A) dopamine receptor chr5 GO:0003012 Not Cancer Driver No 73 0.164 30 4 0.133 0
DRD2_ENST00000542968 DRD2 P14416 D(2) dopamine receptor chr11 GO:0003012 Not Cancer Driver No 127 0.287 124 45 0.363 0
EDN1 EDN1 P05305 Endothelin-1 chr6 GO:0003012 Not Cancer Driver No 37 0.175 97 20 0.206 3
EDN2 EDN2 P20800 Endothelin-2 chr1 GO:0003012 Not Cancer Driver No 21 0.118 87 13 0.149 0
EDN3_ENST00000371028 EDN3 P14138 Endothelin-3 chr20 GO:0003012 Not Cancer Driver No 69 0.29 140 44 0.314 3
EDNRA EDNRA P25101 Endothelin-1 receptor chr4 GO:0003012 Not Cancer Driver No 62 0.145 21 6 0.286 2
EDNRB_ENST00000334286 EDNRB P24530 Endothelin receptor type B chr13 GO:0003012 Not Cancer Driver No 112 0.253 56 19 0.339 6
EZH2_ENST00000460911 EZH2 Q15910 Histone-lysine N-methyltransferase EZH2 chr7 GO:0003012 Census, Compendium Yes 120 0.161 284 44 0.155 11
GAA_ENST00000390015 GAA P10253 Lysosomal alpha-glucosidase chr17 GO:0003012 Not Cancer Driver No 101 0.106 147 18 0.122 131
GATA6 GATA6 Q92908 Transcription factor GATA-6 chr18 GO:0003012 Not Cancer Driver No 57 0.096 476 51 0.107 10
GATM GATM P50440 Glycine amidinotransferase, mitochondrial chr15 GO:0003012 Not Cancer Driver No 69 0.163 33 8 0.242 15
GDNF_ENST00000326524 GDNF P39905 Glial cell line-derived neurotrophic factor chr5 GO:0003012 Not Cancer Driver No 47 0.223 83 18 0.217 2
GRIP2_ENST00000621039 GRIP2 Q9C0E4 Glutamate receptor-interacting protein 2 chr3 GO:0003012 Not Cancer Driver No 143 0.137 586 84 0.143 0
GSN GSN P06396 Gelsolin chr9 GO:0003012 Not Cancer Driver No 76 0.097 316 28 0.089 2
GSTM2 GSTM2 P28161 Glutathione S-transferase Mu 2 chr1 GO:0003012 Not Cancer Driver No 26 0.119 5 0 0.0 0
GUCY1A1_ENST00000513574 GUCY1A1 Q02108 Guanylate cyclase soluble subunit alpha-1 chr4 GO:0003012 Not Cancer Driver No 181 0.262 54 8 0.148 0
HDAC2 HDAC2 Q92769 Histone deacetylase 2 chr6 GO:0003012 Not Cancer Driver No 46 0.094 145 14 0.097 0
HDAC4 HDAC4 P56524 Histone deacetylase 4 chr2 GO:0003012 Not Cancer Driver No 182 0.168 749 132 0.176 0
HEY2 HEY2 Q9UBP5 Hairy/enhancer-of-split related with YRPW motif protein 2 chr6 GO:0003012 Not Cancer Driver No 64 0.19 179 26 0.145 0
HMOX1 HMOX1 P09601 Heme oxygenase 1 chr22 GO:0003012 Not Cancer Driver No 46 0.16 81 13 0.16 0
HTR1D HTR1D P28221 5-hydroxytryptamine receptor 1D chr1 GO:0003012 Not Cancer Driver No 54 0.143 24 1 0.042 0
HTR2A HTR2A P28223 5-hydroxytryptamine receptor 2A chr13 GO:0003012 Not Cancer Driver No 105 0.223 44 8 0.182 0
HTR2B HTR2B P41595 5-hydroxytryptamine receptor 2B chr2 GO:0003012 Not Cancer Driver No 41 0.085 23 2 0.087 0
IGF1_ENST00000307046 IGF1 P05019 Insulin-like growth factor I chr12 GO:0003012 Not Cancer Driver No 45 0.231 87 23 0.264 0
IL15_ENST00000320650 IL15 P40933 Interleukin-15 chr4 GO:0003012 Not Cancer Driver No 25 0.154 6 1 0.167 0
IL1B IL1B P01584 Interleukin-1 beta chr2 GO:0003012 Not Cancer Driver No 39 0.145 16 3 0.188 0
INPP5F INPP5F Q9Y2H2 Phosphatidylinositide phosphatase SAC2 chr10 GO:0003012 Not Cancer Driver No 138 0.122 394 45 0.114 0
KBTBD13 KBTBD13 C9JR72 Kelch repeat and BTB domain-containing protein 13 chr15 GO:0003012 Not Cancer Driver No 32 0.07 18 1 0.056 3
KCNJ2_ENST00000535240 KCNJ2 P63252 Inward rectifier potassium channel 2 chr17 GO:0003012 Not Cancer Driver No 103 0.241 49 11 0.224 12
KCNMA1 KCNMA1 Q12791 Calcium-activated potassium channel subunit alpha-1 chr10 GO:0003012 Not Cancer Driver No 222 0.18 225 39 0.173 5
KDM4A KDM4A O75164 Lysine-specific demethylase 4A chr1 GO:0003012 Not Cancer Driver No 122 0.115 337 44 0.131 0
KLF15 KLF15 Q9UIH9 Krueppel-like factor 15 chr3 GO:0003012 Not Cancer Driver No 66 0.159 273 48 0.176 0
LEP LEP P41159 Leptin chr7 GO:0003012 Not Cancer Driver No 29 0.174 0 0 0.0 2
MKKS MKKS Q9NPJ1 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin chr20 GO:0003012 Not Cancer Driver No 56 0.098 6 1 0.167 22
MSTN MSTN O14793 Growth/differentiation factor 8 chr2 GO:0003012 Not Cancer Driver No 68 0.181 64 11 0.172 0
MYH6 MYH6 P13533 Myosin-6 chr14 GO:0003012 Not Cancer Driver No 392 0.202 1112 238 0.214 7
MYH7 MYH7 P12883 Myosin-7 chr14 GO:0003012 Not Cancer Driver No 464 0.24 1107 276 0.249 200
MYLK MYLK Q15746 Myosin light chain kinase, smooth muscle chr3 GO:0003012 Not Cancer Driver No 343 0.179 957 184 0.192 3
MYOC MYOC Q99972 Myocilin chr1 GO:0003012 Not Cancer Driver No 92 0.183 196 43 0.219 58
MYOG MYOG P15173 Myogenin chr1 GO:0003012 Not Cancer Driver No 36 0.161 132 20 0.152 0
NEUROG1 NEUROG1 Q92886 Neurogenin-1 chr5 GO:0003012 Not Cancer Driver No 27 0.114 178 18 0.101 0
NOS3 NOS3 P29474 Nitric oxide synthase, endothelial chr7 GO:0003012 Not Cancer Driver No 168 0.14 347 38 0.11 0
NPPA NPPA P01160 Natriuretic peptides A chr1 GO:0003012 Not Cancer Driver No 32 0.212 71 14 0.197 1
P2RX2_ENST00000643471 P2RX2 Q9UBL9 P2X purinoceptor 2 chr12 GO:0003012 Not Cancer Driver No 62 0.132 104 13 0.125 2
P2RX3 P2RX3 P56373 P2X purinoceptor 3 chr11 GO:0003012 Not Cancer Driver No 85 0.214 15 6 0.4 0
P2RX4_ENST00000337233 P2RX4 Q99571 P2X purinoceptor 4 chr12 GO:0003012 Not Cancer Driver No 36 0.093 0 0 0.0 0
P2RY1 P2RY1 P47900 P2Y purinoceptor 1 chr3 GO:0003012 Not Cancer Driver No 60 0.161 16 1 0.062 0
PAK2 PAK2 Q13177 Serine/threonine-protein kinase PAK 2 chr3 GO:0003012 Compendium Yes 89 0.17 242 49 0.202 0
PDE5A PDE5A O76074 cGMP-specific 3',5'-cyclic phosphodiesterase chr4 GO:0003012 Not Cancer Driver No 113 0.129 163 23 0.141 0
PIK3C2A PIK3C2A O00443 Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha chr11 GO:0003012 Not Cancer Driver No 187 0.111 350 43 0.123 0
PIK3CA PIK3CA P42336 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform chr3 GO:0003012 Census, Compendium Yes 1669 1.563 38 11 0.289 30
PLA2G6 PLA2G6 O60733 85/88 kDa calcium-independent phospholipase A2 chr22 GO:0003012 Not Cancer Driver No 108 0.134 148 23 0.155 11
PLN PLN P26678 Cardiac phospholamban chr6 GO:0003012 Not Cancer Driver No 10 0.192 0 0 0.0 3
PPP3CA PPP3CA Q08209 Protein phosphatase 3 catalytic subunit alpha chr4 GO:0003012 Compendium Yes 85 0.163 140 27 0.193 7
PRKG1_ENST00000401604 PRKG1 Q13976 cGMP-dependent protein kinase 1 chr10 GO:0003012 Not Cancer Driver No 167 0.249 93 22 0.237 1
PTGER3_ENST00000370931 PTGER3 P43115 Prostaglandin E2 receptor EP3 subtype chr1 GO:0003012 Not Cancer Driver No 79 0.203 17 2 0.118 0
RAP1GDS1_ENST00000408927 RAP1GDS1 P52306 Rap1 GTPase-GDP dissociation stimulator 1 chr4 GO:0003012 Census, Compendium Yes 93 0.153 13 0 0.0 0
RGS2 RGS2 P41220 Regulator of G-protein signaling 2 chr1 GO:0003012 Not Cancer Driver No 30 0.142 50 4 0.08 0
RPS6KB1 RPS6KB1 P23443 Ribosomal protein S6 kinase beta-1 chr17 GO:0003012 Not Cancer Driver No 45 0.086 226 26 0.115 0
RYR2 RYR2 Q92736 Ryanodine receptor 2 chr1 GO:0003012 Not Cancer Driver No 1703 0.343 782 281 0.359 51
SCNN1B SCNN1B P51168 Amiloride-sensitive sodium channel subunit beta chr16 GO:0003012 Not Cancer Driver No 90 0.141 62 4 0.065 13
SCO2_ENST00000395693 SCO2 O43819 Protein SCO2 homolog, mitochondrial chr22 GO:0003012 Not Cancer Driver No 31 0.117 51 8 0.157 8
SLC8A1_ENST00000332839 SLC8A1 P32418 Sodium/calcium exchanger 1 chr2 GO:0003012 Not Cancer Driver No 305 0.313 158 48 0.304 0
SOD1 SOD1 P00441 Superoxide dismutase [Cu-Zn] chr21 GO:0003012 Not Cancer Driver No 16 0.104 93 9 0.097 79
SSTR2 SSTR2 P30874 Somatostatin receptor type 2 chr17 GO:0003012 Not Cancer Driver No 54 0.146 22 7 0.318 0
SULF1_ENST00000458141 SULF1 Q8IWU6 Extracellular sulfatase Sulf-1 chr8 GO:0003012 Not Cancer Driver No 246 0.282 269 71 0.264 0
SULF2_ENST00000484875 SULF2 Q8IWU5 Extracellular sulfatase Sulf-2 chr20 GO:0003012 Not Cancer Driver No 145 0.167 142 18 0.127 0
SYNM SYNM O15061 Synemin chr15 GO:0003012 Not Cancer Driver No 156 0.1 1244 131 0.105 0
TACR1 TACR1 P25103 Substance-P receptor chr2 GO:0003012 Not Cancer Driver No 69 0.17 28 2 0.071 0
TACR2 TACR2 P21452 Substance-K receptor chr10 GO:0003012 Not Cancer Driver No 61 0.153 11 4 0.364 0
TBX2 TBX2 Q13207 T-box transcription factor TBX2 chr17 GO:0003012 Not Cancer Driver No 74 0.104 401 36 0.09 1
TBX3 TBX3 O15119 T-box transcription factor TBX3 chr12 GO:0003012 Census, Compendium Yes 123 0.166 352 57 0.162 2
TCAP TCAP O15273 Telethonin chr17 GO:0003012 Not Cancer Driver No 16 0.096 94 10 0.106 3
TIFAB TIFAB Q6ZNK6 TRAF-interacting protein with FHA domain-containing protein B chr5 GO:0003012 Not Cancer Driver No 32 0.199 26 7 0.269 0
TNNC1 TNNC1 P63316 Troponin C, slow skeletal and cardiac muscles chr3 GO:0003012 Not Cancer Driver No 19 0.118 67 6 0.09 6
TNNT1 TNNT1 P13805 Troponin T, slow skeletal muscle chr19 GO:0003012 Not Cancer Driver No 61 0.219 240 55 0.229 0
TRIM63 TRIM63 Q969Q1 E3 ubiquitin-protein ligase TRIM63 chr1 GO:0003012 Not Cancer Driver No 47 0.133 71 13 0.183 0
TRIM72 TRIM72 Q6ZMU5 Tripartite motif-containing protein 72 chr16 GO:0003012 Not Cancer Driver No 54 0.113 69 14 0.203 0
TRPV1_ENST00000399756 TRPV1 Q8NER1 Transient receptor potential cation channel subfamily V member 1 chr17 GO:0003012 Not Cancer Driver No 93 0.111 155 18 0.116 0
TTN_ENST00000615779 TTN Q8WZ42 Titin chr2 GO:0003012 Not Cancer Driver No 7917 0.23 12926 2861 0.221 10