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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism spectrum disorder Likely pathogenic rs1595127294 RCV003127490
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CDC42BPB-related disorder Likely pathogenic; Pathogenic rs1595472764 RCV002051901
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CDC42BPB-related neurodevelopmental syndrome Likely pathogenic; Pathogenic rs1595450125, rs1595450393, rs1595472739, rs1595472741, rs1595472756, rs1595472764, rs1595476797, rs1595482918, rs1016320330, rs1595127294, rs1595208914 RCV001007681
RCV001007680
RCV001007679
RCV001007678
RCV001007677
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chilton-Okur-Chung neurodevelopmental syndrome Likely pathogenic; Pathogenic rs2503747057, rs2542847763, rs2542847797, rs2542842943, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294 RCV003387695
RCV003885334
RCV003458977
RCV004566596
RCV002249555
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CDC42BPB-related Neurodevelopmental disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIFFUSE LARGE B-CELL LYMPHOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of large intestine Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22464443
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22464443, 30667325 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Palsy Cerebral palsy Pubtator 40243517 Associate
★☆☆☆☆
Found in Text Mining only
Diffuse Large B-Cell Lymphoma Diffuse Lymphoma GWASCAT_DG 21471979
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors Gastrointestinal stromal tumor Pubtator 35319816 Associate
★☆☆☆☆
Found in Text Mining only
Infiltrating duct carcinoma of female breast Infiltrating Duct Carcinoma Of Female Breast UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Large cell carcinoma of lung Lung Carcinoma UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Lymphoma Lymphoma BEFREE 21471979
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 29662059
★★☆☆☆
Found in Text Mining + Unknown/Other Associations