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

Gene ID: 79742, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in placenta (RPKM 14.6), fat (RPKM 13.7) and 19 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (45148373..45200876, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (44557298..44609794, complement)
105.20220307 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
  • 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_2023_10

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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