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    DDX12P DEAD/H-box helicase 12, pseudogene [ Homo sapiens (human) ]

    Gene ID: 440081, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DDX12Pprovided by HGNC
    Official Full Name
    DEAD/H-box helicase 12, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:2737
    See related
    MIM:601151; AllianceGenome:HGNC:2737
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CHLR2; DDX12
    Summary
    Predicted to enable DNA helicase activity. Predicted to be involved in DNA duplex unwinding and establishment of sister chromatid cohesion. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in bone marrow (RPKM 14.1), lymph node (RPKM 7.1) and 25 other tissues See more
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    Genomic context

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    See DDX12P in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (9417691..9448172, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (9400442..9430908, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (9570287..9600768, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:9555514-9556155 Neighboring gene ovostatin homolog 2 Neighboring gene uncharacterized LOC105369647 Neighboring gene uncharacterized LOC124902873 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:9590133-9590632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4227 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:9600631-9600851 Neighboring gene alpha-2-macroglobulin like 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4228 Neighboring gene RAN binding protein 6 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:9721455-9722278 Neighboring gene killer cell lectin like receptor B1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion. van Schie JJM, et al. Nat Commun, 2020 Aug 27. PMID 32855419, Free PMC Article
    2. Localization of chi1-related helicase genes to human chromosome regions 12p11 and 12p13: similarity between parts of these genes and conserved human telomeric-associated DNA. Amann J, et al. Genomics, 1996 Mar 1. PMID 8833153
    3. Characterization of putative human homologues of the yeast chromosome transmission fidelity gene, CHL1. Amann J, et al. J Biol Chem, 1997 Feb 7. PMID 9013641
    4. Lineage-specific gene duplication and loss in human and great ape evolution. Fortna A, et al. PLoS Biol, 2004 Jul. PMID 15252450, Free PMC Article
    5. C9orf72 protein quality control by UBR5-mediated heterotypic ubiquitin chains. Jülg J, et al. EMBO Rep, 2023 Aug 3. PMID 37317656, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    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

    Other Names

    • CHL1-like helicase homolog 2
    • CHL1-related protein 2
    • DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 (CHL1-like helicase homolog, S. cerevisiae)
    • DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene
    • DEAD/H box protein 12
    • DEAD/H box-12
    • hCHLR2
    • probable ATP-dependent RNA helicase DDX12

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables iron-sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of sister chromatid cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nucleobase-containing compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    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.

    RNA

    1. NR_033399.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC092821, AC141557

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      9417691..9448172 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      9400442..9430908 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_004400.1: Suppressed sequence

      Description
      NM_004400.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92771.3 GenPept UniProtKB/Swiss-Prot:Q92771

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials