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

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: mouse all
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Genomic context

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
The CDC42 effector protein MRCKbeta autophosphorylates on Threonine 1108.
Title: The CDC42 effector protein MRCKβ autophosphorylates on Threonine 1108.
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.
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.
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.
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.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G35357 (e-PCR)
- UniSTS:38152

G35915 (e-PCR)
- UniSTS:9483

GDB:434012 (e-PCR)
- UniSTS:157204

G35359 (e-PCR)
- UniSTS:26929

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

SGC30775 (e-PCR)
- UniSTS:41013

G35358 (e-PCR)
- UniSTS:39506

G36112 (e-PCR)
- UniSTS:73047

L18426 (e-PCR)
- UniSTS:34648

G54051 (e-PCR)
- UniSTS:109433

G35410 (e-PCR)
- UniSTS:44155

D11S3114 (e-PCR)
- UniSTS:152207

RH99029 (e-PCR)
- UniSTS:88980

G60371 (e-PCR)
- UniSTS:137627

L17971 (e-PCR)
- UniSTS:43966

GDB:631813 (e-PCR)
- UniSTS:158430

G24046 (e-PCR)
- UniSTS:32484

G35487 (e-PCR)
- UniSTS:64487

D14S293 (e-PCR), detects polymorphism
- UniSTS:41467

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 more info	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

EC 2.7.11.1

NP_006026.3

EC 2.7.11.1

XP_005268284.1

EC 2.7.11.1

XP_005268285.1

EC 2.7.11.1

XP_005268287.1

EC 2.7.11.1

XP_011535689.1

EC 2.7.11.1

XP_047287937.1

EC 2.7.11.1

XP_047287938.1

EC 2.7.11.1

XP_054233064.1

EC 2.7.11.1

XP_054233065.1

EC 2.7.11.1

XP_054233066.1

EC 2.7.11.1

XP_054233067.1

EC 2.7.11.1

XP_054233068.1

EC 2.7.11.1

XP_054233069.1

EC 2.7.11.1

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)

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
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

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

102932380..103057549 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_047431982.1 → XP_047287938.1 serine/threonine-protein kinase MRCK beta isoform X6
XM_047431981.1 → XP_047287937.1 serine/threonine-protein kinase MRCK beta isoform X5
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
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

NC_060938.1 Alternate T2T-CHM13v2.0

Range

97168625..97293800 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054377090.1 → XP_054233065.1 serine/threonine-protein kinase MRCK beta isoform X2
XM_054377089.1 → XP_054233064.1 serine/threonine-protein kinase MRCK beta isoform X1
XM_054377094.1 → XP_054233069.1 serine/threonine-protein kinase MRCK beta isoform X6
XM_054377093.1 → XP_054233068.1 serine/threonine-protein kinase MRCK beta isoform X5
XM_054377092.1 → XP_054233067.1 serine/threonine-protein kinase MRCK beta isoform X4
XM_054377091.1 → XP_054233066.1 serine/threonine-protein kinase MRCK beta isoform X3