mutation-missense Gene Set

Dataset Phosphosite Textmining Biological Term Annotations
Category structural or functional annotations
Type biological term
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Genes

230 proteins co-occuring with the biological term mutation-missense in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

Symbol Name
ACACA acetyl-CoA carboxylase alpha
ACE angiotensin I converting enzyme
ADRA2A adrenoceptor alpha 2A
AICDA activation-induced cytidine deaminase
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT1S1 AKT1 substrate 1 (proline-rich)
ALOX5 arachidonate 5-lipoxygenase
ANXA2 annexin A2
APOBEC3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G
APTX aprataxin
AQP4 aquaporin 4
AR androgen receptor
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ATF2 activating transcription factor 2
ATM ATM serine/threonine kinase
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATR ATR serine/threonine kinase
BAD BCL2-associated agonist of cell death
BCL10 B-cell CLL/lymphoma 10
BIRC5 baculoviral IAP repeat containing 5
BMP15 bone morphogenetic protein 15
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTK Bruton agammaglobulinemia tyrosine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CARHSP1 calcium regulated heat stable protein 1, 24kDa
CCDC88A coiled-coil domain containing 88A
CCND1 cyclin D1
CDC25B cell division cycle 25B
CDC25C cell division cycle 25C
CDC27 cell division cycle 27
CDCA5 cell division cycle associated 5
CDCA8 cell division cycle associated 8
CDK11B cyclin-dependent kinase 11B
CDK2 cyclin-dependent kinase 2
CFL1 cofilin 1 (non-muscle)
CFLAR CASP8 and FADD-like apoptosis regulator
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3
CHEK1 checkpoint kinase 1
CHEK2 checkpoint kinase 2
CHUK conserved helix-loop-helix ubiquitous kinase
CIITA class II, major histocompatibility complex, transactivator
CKAP2 cytoskeleton associated protein 2
COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
CREB1 cAMP responsive element binding protein 1
CSNK1A1 casein kinase 1, alpha 1
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYTH1 cytohesin 1
DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)
DAB2IP DAB2 interacting protein
DAPK1 death-associated protein kinase 1
DES desmin
DNM1 dynamin 1
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DPYSL2 dihydropyrimidinase-like 2
ECT2 epithelial cell transforming 2
EEF1B2 eukaryotic translation elongation factor 1 beta 2
EEF1D eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)
EFNB1 ephrin-B1
EGFR epidermal growth factor receptor
EIF6 eukaryotic translation initiation factor 6
ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific )
EMD emerin
EPHA2 EPH receptor A2
EPOR erythropoietin receptor
ERMN ermin, ERM-like protein
ESR1 estrogen receptor 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
EZR ezrin
FLT3 fms-related tyrosine kinase 3
FOXO3 forkhead box O3
FPR2 formyl peptide receptor 2
FXYD1 FXYD domain containing ion transport regulator 1
GAB1 GRB2-associated binding protein 1
GHR growth hormone receptor
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GMFG glia maturation factor, gamma
GORASP1 golgi reassembly stacking protein 1, 65kDa
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GSK3A glycogen synthase kinase 3 alpha
GSK3B glycogen synthase kinase 3 beta
GYS2 glycogen synthase 2 (liver)
HCLS1 hematopoietic cell-specific Lyn substrate 1
HIST1H1E histone cluster 1, H1e
HIST1H2BB histone cluster 1, H2bb
HIST1H3A histone cluster 1, H3a
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1
HSPB6 heat shock protein, alpha-crystallin-related, B6
HVCN1 hydrogen voltage gated channel 1
IBTK inhibitor of Bruton agammaglobulinemia tyrosine kinase
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IP6K2 inositol hexakisphosphate kinase 2
IRS2 insulin receptor substrate 2
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2
JAK2 Janus kinase 2
JPH2 junctophilin 2
JUN jun proto-oncogene
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDR kinase insert domain receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF16 Kruppel-like factor 16
KRT8 keratin 8, type II
L1CAM L1 cell adhesion molecule
LCK LCK proto-oncogene, Src family tyrosine kinase
LIMK1 LIM domain kinase 1
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LRRK2 leucine-rich repeat kinase 2
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MAPK7 mitogen-activated protein kinase 7
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MAPT microtubule-associated protein tau
MARK2 MAP/microtubule affinity-regulating kinase 2
MCM3 minichromosome maintenance complex component 3
MITF microphthalmia-associated transcription factor
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MORC2 MORC family CW-type zinc finger 2
MSN moesin
MTMR2 myotubularin related protein 2
MYBPC3 myosin binding protein C, cardiac
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYH9 myosin, heavy chain 9, non-muscle
MYOD1 myogenic differentiation 1
NCOA3 nuclear receptor coactivator 3
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NGEF neuronal guanine nucleotide exchange factor
NOS3 nitric oxide synthase 3 (endothelial cell)
NOX4 NADPH oxidase 4
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPR1 natriuretic peptide receptor 1
NPR2 natriuretic peptide receptor 2
NR1I3 nuclear receptor subfamily 1, group I, member 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OCLN occludin
OPRK1 opioid receptor, kappa 1
OSBP oxysterol binding protein
OXSR1 oxidative stress responsive 1
PA2G4 proliferation-associated 2G4, 38kDa
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDPK1 3-phosphoinositide dependent protein kinase 1
PER2 period circadian clock 2
PFN2 profilin 2
PINK1 PTEN induced putative kinase 1
PLCG1 phospholipase C, gamma 1
PLN phospholamban
PNPLA8 patatin-like phospholipase domain containing 8
PNPT1 polyribonucleotide nucleotidyltransferase 1
POLH polymerase (DNA directed), eta
POU4F1 POU class 4 homeobox 1
PPP1R12A protein phosphatase 1, regulatory subunit 12A
PPP1R16B protein phosphatase 1, regulatory subunit 16B
PPP1R1A protein phosphatase 1, regulatory (inhibitor) subunit 1A
PPP2R5A protein phosphatase 2, regulatory subunit B', alpha
PRDX6 peroxiredoxin 6
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR2A protein kinase, cAMP-dependent, regulatory, type II, alpha
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRKCG protein kinase C, gamma
PRKCZ protein kinase C, zeta
PRKD1 protein kinase D1
PRMT3 protein arginine methyltransferase 3
PTGES3 prostaglandin E synthase 3 (cytosolic)
PTK2 protein tyrosine kinase 2
PTK2B protein tyrosine kinase 2 beta
PTPN1 protein tyrosine phosphatase, non-receptor type 1
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RB1 retinoblastoma 1
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RIOK2 RIO kinase 2
RPA2 replication protein A2, 32kDa
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX1 runt-related transcription factor 1
RYR1 ryanodine receptor 1 (skeletal)
RYR2 ryanodine receptor 2 (cardiac)
SCN10A sodium channel, voltage gated, type X alpha subunit
SH2D3C SH2 domain containing 3C
SIK2 salt-inducible kinase 2
SIRT1 sirtuin 1
SKAP2 src kinase associated phosphoprotein 2
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC9A5 solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNAP25 synaptosomal-associated protein, 25kDa
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SSB Sjogren syndrome antigen B (autoantigen La)
SSH1 slingshot protein phosphatase 1
SSTR2 somatostatin receptor 2
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT5A signal transducer and activator of transcription 5A
STK11 serine/threonine kinase 11
STK39 serine threonine kinase 39
SUFU suppressor of fused homolog (Drosophila)
SYK spleen tyrosine kinase
TARDBP TAR DNA binding protein
TERT telomerase reverse transcriptase
TLR4 toll-like receptor 4
TNNI3 troponin I type 3 (cardiac)
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP53 tumor protein p53
TRIM28 tripartite motif containing 28
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TSPY1 testis specific protein, Y-linked 1
TTK TTK protein kinase
UIMC1 ubiquitin interaction motif containing 1
ULK1 unc-51 like autophagy activating kinase 1
VASP vasodilator-stimulated phosphoprotein
VAV1 vav 1 guanine nucleotide exchange factor
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta