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CDC42BPB CDC42 binding protein kinase beta [ Homo sapiens (human) ]

Gene ID: 9578, updated on 5-Mar-2024

Summary

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Official Symbol
CDC42BPBprovided by HGNC
Official Full Name
CDC42 binding protein kinase betaprovided by HGNC
Primary source
HGNC:HGNC:1738
See related
Ensembl:ENSG00000198752 MIM:614062; AllianceGenome:HGNC:1738
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRCKB; CHOCNS
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 dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 24.8), fat (RPKM 20.9) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
14q32.32
Exon count:
39
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (102932380..103057549, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (97168625..97293800, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (103398717..103523886, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene TNF receptor associated factor 3 Neighboring gene RNA, U6 small nuclear 1316, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:103352003-103353202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103357046-103357546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103357547-103358047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103366521-103367022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103367023-103367522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103379429-103380018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103380019-103380608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103380952-103381452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6134 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:103390587-103390785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6136 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:103411482-103412681 Neighboring gene amnion associated transmembrane protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103452779-103453413 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103453414-103454047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103464738-103465284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9093 Neighboring gene Sharpr-MPRA regulatory region 6354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103486267-103486822 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:103489632-103489899 Neighboring gene Sharpr-MPRA regulatory region 14595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103524373-103525023 Neighboring gene ribosomal protein L13 pseudogene 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103541151-103541742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103559931-103560500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103561071-103561640 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:103564684-103564853 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103576643-103577253 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103576032-103576642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9095 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103570895-103571645 Neighboring gene LBH domain containing 2 Neighboring gene exocyst complex component 3 like 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Sequence variant in the CDC42BPB gene is potentially associated with Mullerian duct anomalies. Luo LJ, et al. J Obstet Gynaecol Res, 2020 May. PMID 32043305
  2. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Chilton I, et al. Am J Med Genet A, 2020 May. PMID 32031333
  3. Helicobacter pylori-induced gastric cancer is orchestrated by MRCKβ-mediated Siah2 phosphorylation. Dixit P, et al. J Biomed Sci, 2021 Feb 3. PMID 33536006, Free PMC Article
  4. The CDC42 effector protein MRCKβ autophosphorylates on Threonine 1108. Unbekandt M, et al. Small GTPases, 2020 Nov. PMID 30667325, Free PMC Article
  5. DNA Methylation Signatures of Depressive Symptoms in Middle-aged and Elderly Persons: Meta-analysis of Multiethnic Epigenome-wide Studies. Story Jovanova O, et al. JAMA Psychiatry, 2018 Sep 1. PMID 29998287, Free PMC Article

See all (78) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Helicobacter pylori-induced gastric cancer is orchestrated by MRCKbeta-mediated Siah2 phosphorylation.
    Title: Helicobacter pylori-induced gastric cancer is orchestrated by MRCKβ-mediated Siah2 phosphorylation.
  2. The CDC42 effector protein MRCKbeta autophosphorylates on Threonine 1108.
    Title: The CDC42 effector protein MRCKβ autophosphorylates on Threonine 1108.
  3. Sequence variant in the CDC42BPB gene is potentially associated with Mullerian duct anomalies.
    Title: Sequence variant in the CDC42BPB gene is potentially associated with Mullerian duct anomalies.
  4. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
    Title: De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
  5. The predicted expression of the CDC42BPB gene in the brain (basal ganglia) (effect, 0.14; P = 2.7 x 10-03) was associated with Major Depression.
    Title: DNA Methylation Signatures of Depressive Symptoms in Middle-aged and Elderly Persons: Meta-analysis of Multiethnic Epigenome-wide Studies.
  6. these results provide further validation for MRCK involvement in regulation of cancer cell invasion.
    Title: Co-crystal structures of inhibitors with MRCKβ, a key regulator of tumor cell invasion.
  7. Cdc42-dependent formation of the ZO-1/MRCKbeta complex at the leading edge controls cell migration.
    Title: Cdc42-dependent formation of the ZO-1/MRCKβ complex at the leading edge controls cell migration.
  8. Q-PCR results demonstrated VH2 genes were overexpressed in ankylosing spondylitis patients. The sequence analysis revealed the majority of them contained CDC42 binding protein kinase Beta (CDC42 BPB) genes.
    Title: Overexpression and unique rearrangement of VH2 transcripts in immunoglobulin variable heavy chain genes in ankylosing spondylitis patients.
  9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  10. analysis of the interaction of phorbol esters with the C1 domain of MRCK (myotonic dystrophy kinase-related Cdc42 binding kinase) alpha/beta
    Title: Characterization of the interaction of phorbol esters with the C1 domain of MRCK (myotonic dystrophy kinase-related Cdc42 binding kinase) alpha/beta.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Chilton-Okur-Chung neurodevelopmental syndrome
MedGen: C5677022 OMIM: 619841 GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2018-10-24)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2018-10-24)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ37601, FLJ44730, KIAA1124, DKFZp686H1431

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables magnesium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein-containing complex binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in actomyosin structure organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in actomyosin structure organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cytoskeleton organization TAS
Traceable Author Statement
more info
 PubMed 
involved_in establishment or maintenance of cell polarity TAS
Traceable Author Statement
more info
 PubMed 
involved_in peptidyl-threonine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in actomyosin IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in actomyosin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell leading edge ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cell-cell junction ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
serine/threonine-protein kinase MRCK beta
Names
CDC42 binding protein kinase beta (DMPK-like)
CDC42BP-beta
DMPK-like beta
MRCK beta
myotonic dystrophy kinase-related CDC42-binding kinase beta
myotonic dystrophy protein kinase-like beta
NP_001397983.1
NP_006026.3
XP_005268284.1
XP_005268285.1
XP_005268287.1
XP_011535689.1
XP_047287937.1
XP_047287938.1
XP_054233064.1
XP_054233065.1
XP_054233066.1
XP_054233067.1
XP_054233068.1
XP_054233069.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001411054.1 → NP_001397983.1  serine/threonine-protein kinase MRCK beta isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL117209, AL133455
    Consensus CDS
    CCDS91935.1
    UniProtKB/TrEMBL
    H0YLY0
    Related
    ENSP00000453384.2, ENST00000559043.2

  2. NM_006035.4 → NP_006026.3  serine/threonine-protein kinase MRCK beta isoform 1

    See identical proteins and their annotated locations for NP_006026.3

    Status: REVIEWED

    Source sequence(s)
    AB032950, AF128625, AL117209, AL133455, BC048261
    Consensus CDS
    CCDS9978.1
    UniProtKB/Swiss-Prot
    A9JR72, Q2L7A5, Q86TJ1, Q9ULU5, Q9Y5S2
    Related
    ENSP00000355237.2, ENST00000361246.7
    Conserved Domains (8) summary
    pfam08826
    Location:878 → 939
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:76 → 342
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00029
    Location:1026 → 1075
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd01243
    Location:1085 → 1219
    PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
    cd05624
    Location:3 → 411
    STKc_MRCK_beta; Catalytic domain of the Protein Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) beta
    pfam00780
    Location:1245 → 1510
    CNH; CNH domain
    pfam13868
    Location:426 → 786
    TPH; Trichohyalin-plectin-homology domain
    pfam15796
    Location:528 → 606
    KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    102932380..103057549 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268228.2 → XP_005268285.1  serine/threonine-protein kinase MRCK beta isoform X2

    Conserved Domains (8) summary
    pfam08826
    Location:878 → 939
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:76 → 342
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00029
    Location:1017 → 1066
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd01243
    Location:1076 → 1210
    PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
    cd05624
    Location:3 → 411
    STKc_MRCK_beta; Catalytic domain of the Protein Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) beta
    pfam00780
    Location:1236 → 1501
    CNH; CNH domain
    pfam13868
    Location:426 → 786
    TPH; Trichohyalin-plectin-homology domain
    pfam15796
    Location:528 → 606
    KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

  2. XM_005268227.2 → XP_005268284.1  serine/threonine-protein kinase MRCK beta isoform X1

    Conserved Domains (8) summary
    pfam08826
    Location:878 → 939
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:76 → 342
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00029
    Location:1043 → 1092
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd01243
    Location:1102 → 1236
    PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
    cd05624
    Location:3 → 411
    STKc_MRCK_beta; Catalytic domain of the Protein Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) beta
    pfam00780
    Location:1262 → 1527
    CNH; CNH domain
    pfam13868
    Location:426 → 786
    TPH; Trichohyalin-plectin-homology domain
    pfam15796
    Location:528 → 606
    KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

  3. XM_047431982.1 → XP_047287938.1  serine/threonine-protein kinase MRCK beta isoform X6

  4. XM_047431981.1 → XP_047287937.1  serine/threonine-protein kinase MRCK beta isoform X5

  5. XM_011537387.2 → XP_011535689.1  serine/threonine-protein kinase MRCK beta isoform X4

    Conserved Domains (8) summary
    pfam08826
    Location:878 → 934
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:76 → 342
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    COG1340
    Location:435 → 709
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00029
    Location:1043 → 1092
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd01243
    Location:1102 → 1236
    PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
    cd05624
    Location:3 → 411
    STKc_MRCK_beta; Catalytic domain of the Protein Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) beta
    pfam15796
    Location:528 → 606
    KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase
    cl02434
    Location:1262 → 1419
    CNH; CNH domain

  6. XM_005268230.5 → XP_005268287.1  serine/threonine-protein kinase MRCK beta isoform X3

    Conserved Domains (8) summary
    pfam08826
    Location:878 → 934
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:76 → 342
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    COG1340
    Location:435 → 709
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00029
    Location:1043 → 1092
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd01243
    Location:1102 → 1236
    PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
    cd05624
    Location:3 → 411
    STKc_MRCK_beta; Catalytic domain of the Protein Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) beta
    pfam00780
    Location:1262 → 1486
    CNH; CNH domain
    pfam15796
    Location:528 → 606
    KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    97168625..97293800 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377090.1 → XP_054233065.1  serine/threonine-protein kinase MRCK beta isoform X2

  2. XM_054377089.1 → XP_054233064.1  serine/threonine-protein kinase MRCK beta isoform X1

  3. XM_054377094.1 → XP_054233069.1  serine/threonine-protein kinase MRCK beta isoform X6

  4. XM_054377093.1 → XP_054233068.1  serine/threonine-protein kinase MRCK beta isoform X5

  5. XM_054377092.1 → XP_054233067.1  serine/threonine-protein kinase MRCK beta isoform X4

  6. XM_054377091.1 → XP_054233066.1  serine/threonine-protein kinase MRCK beta isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y5S2.2 GenPept UniProtKB/Swiss-Prot:Q9Y5S2

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