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    PDZD9 PDZ domain containing 9 [ Homo sapiens (human) ]

    Gene ID: 255762, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PDZD9provided by HGNC
    Official Full Name
    PDZ domain containing 9provided by HGNC
    Primary source
    HGNC:HGNC:28740
    See related
    Ensembl:ENSG00000155714 AllianceGenome:HGNC:28740
    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
    C16orf65
    Expression
    Broad expression in testis (RPKM 11.6), heart (RPKM 5.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PDZD9 in Genome Data Viewer
    Location:
    16p12.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (21957540..22001116, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (22216077..22259661)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (21995186..22012437, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene SMG1 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21945923-21946424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21946425-21946924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10562 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:21964563-21965280 Neighboring gene ABCA3 pseudogene 1 Neighboring gene ubiquinol-cytochrome c reductase core protein 2 Neighboring gene cell division cycle associated 8 pseudogene Neighboring gene islet cell autoantigen 1, 69kDa pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7258 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:22037440-22038639 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7259 Neighboring gene modulator of smoothened Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10566 Neighboring gene uncharacterized LOC124903665 Neighboring gene Sharpr-MPRA regulatory region 14412 Neighboring gene uncharacterized LOC105371129

    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. The sequence and analysis of duplication-rich human chromosome 16. Martin J, et al. Nature, 2004 Dec 23. PMID 15616553
    2. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Hu Q, et al. Cell Res, 2019 Apr. PMID 30631154, Free PMC Article
    3. Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF-κB-dependent inflammation response. Lou LQ, et al. J Mol Med (Berl), 2023 Mar. PMID 36629882
    4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    5. Human-chromatin-related protein interactions identify a demethylase complex required for chromosome segregation. Marcon E, et al. Cell Rep, 2014 Jul 10. PMID 24981860

    See all (9) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC50721

    General protein information

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    Preferred Names
    PDZ domain-containing protein 9
    Names
    PDZ domain-containing protein C16orf65

    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_001363519.1 → NP_001350448.1  PDZ domain-containing protein 9 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC092119
      Consensus CDS
      CCDS92124.1
      UniProtKB/Swiss-Prot
      F5GWW8, Q8IXQ8
      Related
      ENSP00000400514.2, ENST00000424898.3
      Conserved Domains (1) summary
      cd00992
      Location:39 → 106
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    2. NM_001370530.1 → NP_001357459.1  PDZ domain-containing protein 9 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC092119

    3. NM_173806.4 → NP_776167.2  PDZ domain-containing protein 9 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC092119
      Consensus CDS
      CCDS10602.2
      UniProtKB/Swiss-Prot
      Q8IXQ8
      Related
      ENSP00000441685.2, ENST00000537222.6

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      21957540..22001116 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023109.2 → XP_016878598.1  PDZ domain-containing protein 9 isoform X1

    2. XM_047433888.1 → XP_047289844.1  PDZ domain-containing protein 9 isoform X2

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017852933.1 Reference GRCh38.p14 PATCHES

      Range
      1103923..1147498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332147.1 → XP_054188122.1  PDZ domain-containing protein 9 isoform X1

    2. XM_054332148.1 → XP_054188123.1  PDZ domain-containing protein 9 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      22216077..22259661
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379996.1 → XP_054235971.1  PDZ domain-containing protein 9 isoform X1

    2. XM_054379997.1 → XP_054235972.1  PDZ domain-containing protein 9 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXQ8.2 GenPept UniProtKB/Swiss-Prot:Q8IXQ8

    Gene LinkOut

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

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