Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9578
Gene name Gene Name - the full gene name approved by the HGNC.
CDC42 binding protein kinase beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDC42BPB
Synonyms (NCBI Gene) Gene synonyms aliases
CHOCNS, MRCKB
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CHOCNS
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dyst
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1016320330 G>C,T Likely-pathogenic Synonymous variant, coding sequence variant, non coding transcript variant, missense variant
rs1198710710 C>T Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs1595127294 C>A Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs1595208914 CGTCCAGGAGCAGC>- Likely-pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs1595450125 C>G Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020532 hsa-miR-155-5p Proteomics 18668040
MIRT023484 hsa-miR-1-3p Proteomics 18668040
MIRT877829 hsa-miR-1207-5p CLIP-seq
MIRT877830 hsa-miR-1225-5p CLIP-seq
MIRT877831 hsa-miR-1250 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding ISS
GO:0004672 Function Protein kinase activity IDA 21949762
GO:0004674 Function Protein serine/threonine kinase activity IBA 21873635
GO:0004674 Function Protein serine/threonine kinase activity ISS
GO:0005524 Function ATP binding ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614062 1738 ENSG00000198752
Protein
UniProt ID Q9Y5S2
Protein name Serine/threonine-protein kinase MRCK beta (EC 2.7.11.1) (CDC42-binding protein kinase beta) (CDC42BP-beta) (DMPK-like beta) (Myotonic dystrophy kinase-related CDC42-binding kinase beta) (MRCK beta) (Myotonic dystrophy protein kinase-like beta)
Protein function Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration. Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C
PDB 3QFV , 3TKU , 4UAK , 4UAL , 5OTE , 5OTF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 76 342 Protein kinase domain Domain
PF15796 KELK 527 606 KELK-motif containing domain of MRCK Ser/Thr protein kinase Coiled-coil
PF08826 DMPK_coil 878 939 DMPK coiled coil domain like Coiled-coil
PF00130 C1_1 1026 1077 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00780 CNH 1245 1510 CNH domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues examined, with high levels in heart, brain, placenta and lung. {ECO:0000269|PubMed:10198171}.
Sequence
MSAKVRLKKLEQLLLDGPWRNESALSVETLLDVLVCLYTECSHSALRRDKYVAEFLEWAK
PFTQLVKEMQLHREDFEIIKVIGRGAFGEVAVVKMKNTERIYAMKILNKWEMLKRAETAC
FREERDVLVNGDCQWITALHYAFQDENHLYLVMDYYVGGDLLTLLSKFEDKLPEDMARFY
IGEMVLAIDSIHQLHYVHRDIKPDNVLLDVNGHIRLADFGSCLKMNDDGTVQSSVAVGTP
DYISPEILQAMEDGMGKYGPECDWWSLGVCMYEMLYGETPFYAESLVETYGKIMNHEERF
QFPSHVTDVSEEAKDLIQRLICSRERRLGQNGIEDFKKHAFF
EGLNWENIRNLEAPYIPD
VSSPSDTSNFDVDDDVLRNTEILPPGSHTGFSGLHLPFIGFTFTTESCFSDRGSLKSIMQ
SNTLTKDEDVQRDLEHSLQMEAYERRIRRLEQEKLELSRKLQESTQTVQSLHGSSRALSN
SNRDKEIKKLNEEIERLKNKIADSNRLERQLEDTVALRQEREDSTQRLRGLEKQHRVVRQ
EKEELHKQLVEASERLKSQAKELKDAHQQRKLALQEFSELNERMAELRAQKQKVSRQLRD
KEEEME
VATQKVDAMRQEMRRAEKLRKELEAQLDDAVAEASKERKLREHSENFCKQMESE
LEALKVKQGGRGAGATLEHQQEISKIKSELEKKVLFYEEELVRREASHVLEVKNVKKEVH
DSESHQLALQKEILMLKDKLEKSKRERHNEMEEAVGTIKDKYERERAMLFDENKKLTAEN
EKLCSFVDKLTAQNRQLEDELQDLAAKKESVAHWEAQIAEIIQWVSDEKDARGYLQALAS
KMTEELEALRSSSLGSRTLDPLWKVRRSQKLDMSARLELQSALEAEIRAKQLVQEELRKV
KDANLTLESKLKDSEAKNRELLEEMEILKKKMEEKFRAD
TGLKLPDFQDSIFEYFNTAPL
AHDLTFRTSSASEQETQAPKPEASPSMSVAASEQQEDMARPPQRPSAVPLPTTQALALAG
PKPKAHQFSIKSFSSPTQCSHCTSLMVGLIRQGYACEVCSFACHVSCKDGAPQVCPIPPE
QSKRPLGVDVQRGIGTAYKGHVKVPKPTGVKKGWQRAYAVVCDCKLFLYDLPEGKSTQPG
VIASQVLDLRDDEFSVSSVLASDVIHATRRDIPCIFRVTASLLGAPSKTSSLLILTENEN
EKRKWVGILEGLQSILHKNRLRNQVVHVPLEAYDSSLPLIKAILTAAIVDADRIAVGLEE
GLYVIEVTRDVIVRAADCKKVHQIELAPREKIVILLCGRNHHVHLYPWSSLDGAEGSFDI
KLPETKGCQLMATATLKRNSGTCLFVAVKRLILCYEIQRTKPFHRKFNEIVAPGSVQCLA
VLRDRLCVGYPSGFCLLSIQGDGQPLNLVNPNDPSLAFLSQQSFDALCAVELESEEYLLC
FSHMGLYVDPQGRRARAQELMWPAAPVACSCSPTHVTVYSEYGVDVFDVRTMEWVQTIGL
RRIRPLNSEG
TLNLLNCEPPRLIYFKSKFSGAVLNVPDTSDNSKKQMLRTRSKRRFVFKV
PEEERLQQRREMLRDPELRSKMISNPTNFNHVAHMGPGDGMQVLMDLPLSAVPPSQEERP
GPAPTNLARQPPSRNKPYISWPSSGGSEPSVTVPLRSMSDPDQDFDKEPDSDSTKHSTPS
NSSNPSGPPSPNSPHRSQLPLEGLEQPACDT
Sequence length 1711
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Adenocarcinoma of large intestine rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Diffuse lymphoma Diffuse Large B-Cell Lymphoma rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291 21471979
Lung carcinoma Large cell carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355
View all (44 more)
Neurodevelopmental disorders Neurodevelopmental Disorders rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330
View all (2 more)
28191889
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 29662059 ClinVar
Neurodevelopmental Disorders Chilton-Okur-Chung neurodevelopmental syndrome, complex neurodevelopmental disorder GenCC
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 22464443, 30667325
Cerebral Palsy Associate 40243517
Gastrointestinal Stromal Tumors Associate 35319816
Myocardial Infarction Associate 33836805
Myotonic Dystrophy Associate 30667325
Neoplasms Associate 16319398, 21352556
Optic Atrophy Hereditary Leber Associate 36233195
Urinary Bladder Neoplasms Associate 28193625