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

    Gene ID: 90324, updated on 10-Dec-2024

    Summary

    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
    Summary
    Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 8.9), ovary (RPKM 6.9) and 25 other tissues See more
    Orthologs
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    Genomic context

    See CCDC97 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (41310172..41324873)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44131031..44145731)
    RS_2024_09 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

    Expression

    • 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

    Interactions

    General gene information

    Clone Names

    • FLJ40267, MGC20255

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in nucleus  

    General protein information

    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_001346100.2NP_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:94256
      DUF2052; Coiled-coil domain containing protein (DUF2052)
    2. NM_052848.3NP_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:159321
      DUF2052; Coiled-coil domain containing protein (DUF2052)

    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_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)
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