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    CDC42BPG CDC42 binding protein kinase gamma [ Homo sapiens (human) ]

    Gene ID: 55561, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CDC42BPGprovided by HGNC
    Official Full Name
    CDC42 binding protein kinase gammaprovided by HGNC
    Primary source
    HGNC:HGNC:29829
    See related
    Ensembl:ENSG00000171219 MIM:613991; AllianceGenome:HGNC:29829
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DMPK2; MRCKG; HSMDPKIN; KAPPA-200; MRCKgamma
    Summary
    Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in protein phosphorylation. Located in cell leading edge; centriolar satellite; and cytosol. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in skin (RPKM 11.8), stomach (RPKM 5.1) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CDC42BPG in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64823052..64844653, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64816347..64837971, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64590524..64612125, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64557481-64557982 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 2 Neighboring gene Sharpr-MPRA regulatory region 11124 Neighboring gene MPRA-validated peak1298 silencer Neighboring gene Sharpr-MPRA regulatory region 2965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4917 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3491 Neighboring gene menin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64594480-64594980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64609163-64609975 Neighboring gene Sharpr-MPRA regulatory region 8286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64610788-64611600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4921 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64620804-64621802 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:64622049-64623248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4925 Neighboring gene EH domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64630869-64631680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4928 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64641208-64641398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64644230-64645006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4932 Neighboring gene microRNA 10392 Neighboring gene ribosomal protein S16 pseudogene 6

    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 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. Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. Yasukochi Y, et al. Mol Genet Genomics, 2018 Apr. PMID 29124443, Free PMC Article
    2. The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13. Kedra D, et al. Hum Genet, 1997 Oct. PMID 9341881
    3. Expression of the human myotonic dystrophy kinase-related Cdc42-binding kinase gamma is regulated by promoter DNA methylation and Sp1 binding. Ng Y, et al. J Biol Chem, 2004 Aug 13. PMID 15194684
    4. MRCKα is activated by caspase cleavage to assemble an apical actin ring for epithelial cell extrusion. Gagliardi PA, et al. J Cell Biol, 2018 Jan 2. PMID 29162624, Free PMC Article
    5. Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. Tin A, et al. Hum Mol Genet, 2011 Oct 15. PMID 21768215, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Findings indicate that CDC42BPG may be a susceptibility locus for hyperuricemia.
      Title: Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.
    2. CDC42BPG expression is regulated by promoter methylation and Sp1 binding.
      Title: Expression of the human myotonic dystrophy kinase-related Cdc42-binding kinase gamma is regulated by promoter DNA methylation and Sp1 binding.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein phosphorylation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell leading edge IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    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 IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    serine/threonine-protein kinase MRCK gamma
    Names
    CDC42 binding protein kinase gamma (DMPK-like)
    DMPK-like gamma
    MRCK gamma
    myotonic dystrophy kinase-related CDC42-binding kinase gamma
    myotonic dystrophy protein kinase like protein
    myotonic dystrophy protein kinase-like alpha
    myotonic dystrophy protein kinase-like gamma
    NP_059995.2
    XP_011543457.1
    XP_011543458.1
    XP_011543459.1
    XP_011543460.1
    XP_011543461.1
    XP_011543462.1
    XP_011543463.1
    XP_016873485.1
    XP_016873486.1
    XP_016873487.1
    XP_047283204.1
    XP_047283205.1
    XP_047283206.1
    XP_047283207.1
    XP_054225299.1
    XP_054225300.1
    XP_054225301.1
    XP_054225302.1
    XP_054225303.1
    XP_054225304.1
    XP_054225305.1
    XP_054225306.1
    XP_054225307.1
    XP_054225308.1
    XP_054225309.1
    XP_054225310.1
    XP_054225311.1
    XP_054225312.1

    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_017525.3 → NP_059995.2  serine/threonine-protein kinase MRCK gamma

      See identical proteins and their annotated locations for NP_059995.2

      Status: VALIDATED

      Source sequence(s)
      AP001187, AY648038, BI793270
      Consensus CDS
      CCDS31601.1
      UniProtKB/Swiss-Prot
      O00565, Q6DT37
      Related
      ENSP00000345133.5, ENST00000342711.6
      Conserved Domains (7) summary
      pfam08826
      Location:744 → 801
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:71 → 337
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd01243
      Location:938 → 1070
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05597
      Location:69 → 399
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
      pfam00130
      Location:879 → 921
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      pfam00780
      Location:1097 → 1360
      CNH; CNH domain
      pfam13868
      Location:410 → 802
      TPH; Trichohyalin-plectin-homology domain

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      64823052..64844653 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427250.1 → XP_047283206.1  serine/threonine-protein kinase MRCK gamma isoform X7

    2. XM_047427248.1 → XP_047283204.1  serine/threonine-protein kinase MRCK gamma isoform X4

    3. XM_011545156.4 → XP_011543458.1  serine/threonine-protein kinase MRCK gamma isoform X3

      Conserved Domains (7) summary
      pfam08826
      Location:737 → 794
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:71 → 337
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd01243
      Location:949 → 1081
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05597
      Location:69 → 399
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
      pfam00130
      Location:890 → 932
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      pfam00780
      Location:1108 → 1371
      CNH; CNH domain
      pfam15558
      Location:422 → 794
      DUF4659; Domain of unknown function (DUF4659)

    4. XM_017017996.3 → XP_016873485.1  serine/threonine-protein kinase MRCK gamma isoform X2

    5. XM_047427249.1 → XP_047283205.1  serine/threonine-protein kinase MRCK gamma isoform X6

    6. XM_011545158.4 → XP_011543460.1  serine/threonine-protein kinase MRCK gamma isoform X8

      Conserved Domains (7) summary
      pfam08826
      Location:744 → 801
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:71 → 337
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd01243
      Location:956 → 1088
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05597
      Location:69 → 399
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
      pfam00130
      Location:897 → 939
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      pfam13868
      Location:410 → 802
      TPH; Trichohyalin-plectin-homology domain
      cl02434
      Location:1115 → 1340
      CNH; CNH domain

    7. XM_011545157.4 → XP_011543459.1  serine/threonine-protein kinase MRCK gamma isoform X5

      Conserved Domains (7) summary
      pfam08826
      Location:744 → 801
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:71 → 337
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd01243
      Location:956 → 1088
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05597
      Location:69 → 399
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
      pfam00130
      Location:897 → 939
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      pfam13868
      Location:410 → 802
      TPH; Trichohyalin-plectin-homology domain
      cl02434
      Location:1115 → 1340
      CNH; CNH domain

    8. XM_011545155.4 → XP_011543457.1  serine/threonine-protein kinase MRCK gamma isoform X1

      See identical proteins and their annotated locations for XP_011543457.1

      Conserved Domains (7) summary
      pfam08826
      Location:744 → 801
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:71 → 337
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd01243
      Location:956 → 1088
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05597
      Location:69 → 399
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
      pfam00130
      Location:897 → 939
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      pfam00780
      Location:1115 → 1378
      CNH; CNH domain
      pfam13868
      Location:410 → 802
      TPH; Trichohyalin-plectin-homology domain

    9. XM_011545160.4 → XP_011543462.1  serine/threonine-protein kinase MRCK gamma isoform X10

      Conserved Domains (8) summary
      pfam08826
      Location:646 → 703
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:1 → 239
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd01243
      Location:858 → 990
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05597
      Location:1 → 301
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
      pfam00130
      Location:799 → 841
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      pfam00169
      Location:870 → 986
      PH; PH domain
      pfam00780
      Location:1017 → 1280
      CNH; CNH domain
      pfam13868
      Location:312 → 704
      TPH; Trichohyalin-plectin-homology domain

    10. XM_011545159.4 → XP_011543461.1  serine/threonine-protein kinase MRCK gamma isoform X9

      Conserved Domains (7) summary
      pfam08826
      Location:744 → 801
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:71 → 337
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd01243
      Location:956 → 1088
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05597
      Location:69 → 399
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
      pfam00130
      Location:897 → 939
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      pfam00780
      Location:1115 → 1378
      CNH; CNH domain
      pfam13868
      Location:410 → 802
      TPH; Trichohyalin-plectin-homology domain

    11. XM_017017998.3 → XP_016873487.1  serine/threonine-protein kinase MRCK gamma isoform X14

    12. XM_047427251.1 → XP_047283207.1  serine/threonine-protein kinase MRCK gamma isoform X13

    13. XM_017017997.3 → XP_016873486.1  serine/threonine-protein kinase MRCK gamma isoform X11

    14. XM_011545161.4 → XP_011543463.1  serine/threonine-protein kinase MRCK gamma isoform X12

      Conserved Domains (5) summary
      pfam08826
      Location:744 → 801
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:71 → 337
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd01243
      Location:956 → 1088
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05597
      Location:69 → 399
      STKc_DMPK_like; Catalytic domain of Myotonic Dystrophy protein kinase (DMPK)-like Serine/Threonine Kinases
      pfam00130
      Location:897 → 939
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

    RNA

    1. XR_949988.4 RNA Sequence

    2. XR_949989.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      64816347..64837971 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369330.1 → XP_054225305.1  serine/threonine-protein kinase MRCK gamma isoform X7

    2. XM_054369327.1 → XP_054225302.1  serine/threonine-protein kinase MRCK gamma isoform X4

    3. XM_054369326.1 → XP_054225301.1  serine/threonine-protein kinase MRCK gamma isoform X3

    4. XM_054369325.1 → XP_054225300.1  serine/threonine-protein kinase MRCK gamma isoform X2

    5. XM_054369329.1 → XP_054225304.1  serine/threonine-protein kinase MRCK gamma isoform X6

    6. XM_054369331.1 → XP_054225306.1  serine/threonine-protein kinase MRCK gamma isoform X8

    7. XM_054369328.1 → XP_054225303.1  serine/threonine-protein kinase MRCK gamma isoform X5

    8. XM_054369324.1 → XP_054225299.1  serine/threonine-protein kinase MRCK gamma isoform X1

    9. XM_054369333.1 → XP_054225308.1  serine/threonine-protein kinase MRCK gamma isoform X10

    10. XM_054369332.1 → XP_054225307.1  serine/threonine-protein kinase MRCK gamma isoform X9

    11. XM_054369337.1 → XP_054225312.1  serine/threonine-protein kinase MRCK gamma isoform X14

    12. XM_054369336.1 → XP_054225311.1  serine/threonine-protein kinase MRCK gamma isoform X13

    13. XM_054369334.1 → XP_054225309.1  serine/threonine-protein kinase MRCK gamma isoform X11

    14. XM_054369335.1 → XP_054225310.1  serine/threonine-protein kinase MRCK gamma isoform X12

    RNA

    1. XR_008488418.1 RNA Sequence

    2. XR_008488419.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6DT37.2 GenPept UniProtKB/Swiss-Prot:Q6DT37

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