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

Gene ID: 9578, updated on 3-Nov-2024

Summary

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

See CDC42BPB in Genome Data Viewer
Location:
14q32.32
Exon count:
39
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (102932380..103057549, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (97168625..97293800, complement)
RS_2024_09 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

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 histone H2AS1 kinase activity IEA
Inferred from Electronic Annotation
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 chromatin remodeling IEA
Inferred from Electronic Annotation
more info
 
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 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

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_001411054.1NP_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_006035.4NP_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:878939
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:76342
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00029
    Location:10261075
    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:10851219
    PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
    cd05624
    Location:3411
    STKc_MRCK_beta; Catalytic domain of the Protein Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) beta
    pfam00780
    Location:12451510
    CNH; CNH domain
    pfam13868
    Location:426786
    TPH; Trichohyalin-plectin-homology domain
    pfam15796
    Location:528606
    KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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_005268228.2XP_005268285.1  serine/threonine-protein kinase MRCK beta isoform X2

    Conserved Domains (8) summary
    pfam08826
    Location:878939
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:76342
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00029
    Location:10171066
    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:10761210
    PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
    cd05624
    Location:3411
    STKc_MRCK_beta; Catalytic domain of the Protein Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) beta
    pfam00780
    Location:12361501
    CNH; CNH domain
    pfam13868
    Location:426786
    TPH; Trichohyalin-plectin-homology domain
    pfam15796
    Location:528606
    KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase
  2. XM_005268227.2XP_005268284.1  serine/threonine-protein kinase MRCK beta isoform X1

    Conserved Domains (8) summary
    pfam08826
    Location:878939
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:76342
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00029
    Location:10431092
    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:11021236
    PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
    cd05624
    Location:3411
    STKc_MRCK_beta; Catalytic domain of the Protein Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) beta
    pfam00780
    Location:12621527
    CNH; CNH domain
    pfam13868
    Location:426786
    TPH; Trichohyalin-plectin-homology domain
    pfam15796
    Location:528606
    KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase
  3. XM_047431982.1XP_047287938.1  serine/threonine-protein kinase MRCK beta isoform X6

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

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

    Conserved Domains (8) summary
    pfam08826
    Location:878934
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:76342
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    COG1340
    Location:435709
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00029
    Location:10431092
    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:11021236
    PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
    cd05624
    Location:3411
    STKc_MRCK_beta; Catalytic domain of the Protein Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) beta
    pfam15796
    Location:528606
    KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase
    cl02434
    Location:12621419
    CNH; CNH domain
  6. XM_005268230.5XP_005268287.1  serine/threonine-protein kinase MRCK beta isoform X3

    Conserved Domains (8) summary
    pfam08826
    Location:878934
    DMPK_coil; DMPK coiled coil domain like
    smart00220
    Location:76342
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    COG1340
    Location:435709
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00029
    Location:10431092
    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:11021236
    PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
    cd05624
    Location:3411
    STKc_MRCK_beta; Catalytic domain of the Protein Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) beta
    pfam00780
    Location:12621486
    CNH; CNH domain
    pfam15796
    Location:528606
    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_054377090.1XP_054233065.1  serine/threonine-protein kinase MRCK beta isoform X2

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

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

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

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

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