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    DIPK2B divergent protein kinase domain 2B [ Homo sapiens (human) ]

    Gene ID: 79742, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DIPK2Bprovided by HGNC
    Official Full Name
    divergent protein kinase domain 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:25866
    See related
    Ensembl:ENSG00000147113 MIM:300959; AllianceGenome:HGNC:25866
    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
    DIA1R; CXorf36; PRO3743; EPQL1862; bA435K1.1; 4930578C19Rik
    Summary
    Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in placenta (RPKM 14.6), fat (RPKM 13.7) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DIPK2B in Genome Data Viewer
    Location:
    Xp11.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (45148373..45200876, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (44557298..44609794, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (45007618..45060121, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20787 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:44738216-44738357 Neighboring gene lysine demethylase 6A Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:44811731-44812256 Neighboring gene Sharpr-MPRA regulatory region 12888 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:44834497-44835696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29568 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:44900925-44901669 Neighboring gene uncharacterized LOC105373191 Neighboring gene PLLP pseudogene 1

    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. DIA1R is an X-linked gene related to Deleted In Autism-1. Aziz A, et al. PLoS One, 2011 Jan 17. PMID 21264219, Free PMC Article
    2. A novel predicted calcium-regulated kinase family implicated in neurological disorders. Dudkiewicz M, et al. PLoS One, 2013. PMID 23840464, Free PMC Article
    3. Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders. Aziz A, et al. PLoS One, 2011 Jan 19. PMID 21283809, Free PMC Article
    4. An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders. Thiselton DL, et al. Genomics, 2002 Apr. PMID 11944989
    5. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Tarpey PS, et al. Nat Genet, 2009 May. PMID 19377476, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Clone Names

    • FLJ14103, FLJ55198, DKFZp313K0825

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    divergent protein kinase domain 2B
    Names
    UPF0672 protein CXorf36
    deleted in autism-1 related protein
    deleted in autism-related protein 1
    hCG1981635

    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.

    Genomic

    1. NG_027895.1 RefSeqGene

      Range
      5026..57529
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024689.3 → NP_078965.2  divergent protein kinase domain 2B isoform 2 precursor

      See identical proteins and their annotated locations for NP_078965.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different segment for the 3' coding region and 3' UTR, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus when it is compared to isoform 1.
      Source sequence(s)
      AK024165, BC035375, BP231945
      Consensus CDS
      CCDS14266.1
      UniProtKB/Swiss-Prot
      Q9H7Y0
      Related
      ENSP00000367168.4, ENST00000377934.4

    2. NM_176819.4 → NP_789789.2  divergent protein kinase domain 2B isoform 1 precursor

      See identical proteins and their annotated locations for NP_789789.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AC136488, AF289581, AK024165, BP231945, DA378381, DC332862
      Consensus CDS
      CCDS48096.1
      UniProtKB/Swiss-Prot
      A8MUU5, B2RPN7, Q6UWJ5, Q9H7Y0
      Related
      ENSP00000381086.2, ENST00000398000.7
      Conserved Domains (1) summary
      pfam12260
      Location:211 → 389
      PIP49_C; Protein-kinase domain of FAM69

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      45148373..45200876 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724559.1 → XP_006724622.1  divergent protein kinase domain 2B isoform X2

      Conserved Domains (1) summary
      cl21453
      Location:164 → 305
      PKc_like; Protein Kinases, catalytic domain

    2. XM_005272670.1 → XP_005272727.1  divergent protein kinase domain 2B isoform X1

      Conserved Domains (1) summary
      pfam12260
      Location:164 → 331
      PIP49_C; Protein-kinase domain of FAM69

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      44557298..44609794 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327871.1 → XP_054183846.1  divergent protein kinase domain 2B isoform X2

    2. XM_054327870.1 → XP_054183845.1  divergent protein kinase domain 2B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H7Y0.3 GenPept UniProtKB/Swiss-Prot:Q9H7Y0

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