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    CCDC97 coiled-coil domain containing 97 [ Homo sapiens (human) ]

    Gene ID: 90324, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CCDC97provided by HGNC
    Official Full Name
    coiled-coil domain containing 97provided by HGNC
    Primary source
    HGNC:HGNC:28289
    See related
    Ensembl:ENSG00000142039 AllianceGenome:HGNC:28289
    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
    Expression
    Ubiquitous expression in testis (RPKM 8.9), ovary (RPKM 6.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (41310172..41324873)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44131031..44145731)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41816077..41830778)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein U like 1 Neighboring gene RNA, 7SL, cytoplasmic 34, pseudogene Neighboring gene Sharpr-MPRA regulatory region 15507 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:41806393-41807592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14672 Neighboring gene uncharacterized LOC105372401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41825837-41826574 Neighboring gene Sharpr-MPRA regulatory regions 2264 and 10656 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41828472-41828958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41829057-41829826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41830597-41831366 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41831367-41832136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41833547-41834068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14676 Neighboring gene transforming growth factor beta 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41860203-41860704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14679 Neighboring gene B9 domain containing 2 Neighboring gene transmembrane protein 91

    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 nuclear interactome of DYRK1A reveals a functional role in DNA damage repair. Guard SE, et al. Sci Rep, 2019 Apr 25. PMID 31024071, Free PMC Article
    2. WW domains provide a platform for the assembly of multiprotein networks. Ingham RJ, et al. Mol Cell Biol, 2005 Aug. PMID 16055720, Free PMC Article
    3. CD95/Fas suppresses NF-κB activation through recruitment of KPC2 in a CD95L/FasL-independent mechanism. Guégan JP, et al. iScience, 2021 Dec 17. PMID 34917906, Free PMC Article
    4. SETD1A Methyltransferase Is Physically and Functionally Linked to the DNA Damage Repair Protein RAD18. Alsulami M, et al. Mol Cell Proteomics, 2019 Jul. PMID 31076518, Free PMC Article
    5. WDR76 Co-Localizes with Heterochromatin Related Proteins and Rapidly Responds to DNA Damage. Gilmore JM, et al. PLoS One, 2016. PMID 27248496, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic susceptibility to distinct bladder cancer subphenotypes.
    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

    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

    • FLJ40267, MGC20255

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 97

    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_001346100.2 → NP_001333029.1  coiled-coil domain-containing protein 97 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC011462
      Conserved Domains (1) summary
      pfam09747
      Location:94 → 256
      DUF2052; Coiled-coil domain containing protein (DUF2052)

    2. NM_052848.3 → NP_443080.1  coiled-coil domain-containing protein 97 isoform 1

      See identical proteins and their annotated locations for NP_443080.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC011577, DR001364
      Consensus CDS
      CCDS12578.1
      UniProtKB/Swiss-Prot
      Q658N6, Q96F63, Q96IF3
      Related
      ENSP00000269967.2, ENST00000269967.4
      Conserved Domains (1) summary
      pfam09747
      Location:159 → 321
      DUF2052; Coiled-coil domain containing protein (DUF2052)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      41310172..41324873
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      44131031..44145731
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96F63.1 GenPept UniProtKB/Swiss-Prot:Q96F63

    Gene LinkOut

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

    Chemical Information
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