Gene Gene information from NCBI Gene database.
Entrez ID 9578
Gene name CDC42 binding protein kinase beta
Gene symbol CDC42BPB
Synonyms (NCBI Gene)
CHOCNSMRCKB
Chromosome 14
Chromosome location 14q32.32
Summary 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.
12
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.
512
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding ISS
GO:0004672 Function Protein kinase activity IDA 21949762
GO:0004672 Function Protein kinase activity IEA
GO:0004672 Function Protein kinase activity TAS 9418861
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614062 1738 ENSG00000198752
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
92
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely pathogenic rs1595127294 RCV003127490
CDC42BPB-related disorder Likely pathogenic; Pathogenic rs1595472764 RCV002051901
CDC42BPB-related neurodevelopmental syndrome Likely pathogenic; Pathogenic rs1595450125, rs1595450393, rs1595472739, rs1595472741, rs1595472756, rs1595472764, rs1595476797, rs1595482918, rs1016320330, rs1595127294, rs1595208914 RCV001007681
RCV001007680
RCV001007679
RCV001007678
RCV001007677
RCV001007676
RCV001007684
RCV001007683
RCV001007675
RCV001007674
RCV001007682
Chilton-Okur-Chung neurodevelopmental syndrome Likely pathogenic; Pathogenic rs2503747057, rs2542847763, rs2542847797, rs2542842943, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294 RCV003387695
RCV003885334
RCV003458977
RCV004566596
RCV002249555
RCV002249554
RCV002249556
RCV002251523
RCV002249553
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CDC42BPB-related Neurodevelopmental disorder Uncertain significance rs1384767070 RCV001839070
EBV-positive nodal T- and NK-cell lymphoma Uncertain significance rs200810382 RCV004560167
See cases Uncertain significance rs1893332407, rs2139515520, rs1184748794, rs2503745416, rs2542771988, rs2542736579 RCV001542378
RCV001542456
RCV002287750
RCV003128541
RCV003232945
RCV003985704
Associations from Text MiningDisease associations identified through Pubtator
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