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    CCDC102A coiled-coil domain containing 102A [ Homo sapiens (human) ]

    Gene ID: 92922, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CCDC102Aprovided by HGNC
    Official Full Name
    coiled-coil domain containing 102Aprovided by HGNC
    Primary source
    HGNC:HGNC:28097
    See related
    Ensembl:ENSG00000135736 AllianceGenome:HGNC:28097
    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 part of myosin complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in prostate (RPKM 2.8), endometrium (RPKM 2.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16q21
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (57512181..57537016, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (63307389..63331765, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (57546093..57570483, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5957 Neighboring gene Sharpr-MPRA regulatory region 83 Neighboring gene coenzyme Q9 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57506902-57507423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57507424-57507944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57508610-57509398 Neighboring gene RNA polymerase II subunit C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57519658-57520454 Neighboring gene docking protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57541954-57542946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57543642-57544142 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43689 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:57562855-57563355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10897 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57566372-57566931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57566932-57567490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10900 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43712 Neighboring gene adhesion G protein-coupled receptor G5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57598339-57598840 Neighboring gene uncharacterized LOC105371291 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10902 Neighboring gene uncharacterized LOC107984889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10903 Neighboring gene high mobility group box 3 pseudogene 32

    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. Novel susceptibility genes associated with diabetic cataract in a Taiwanese population. Lin HJ, et al. Ophthalmic Genet, 2013 Mar-Jun. PMID 23137000
    2. Low BACH2 Expression Predicts Adverse Outcome in Chronic Lymphocytic Leukaemia. Ciardullo C, et al. Cancers (Basel), 2021 Dec 21. PMID 35008187, Free PMC Article
    3. Targeting TRIM37-driven centrosome dysfunction in 17q23-amplified breast cancer. Yeow ZY, et al. Nature, 2020 Sep. PMID 32908313, Free PMC Article
    4. Elucidation of the BMI1 interactome identifies novel regulatory roles in glioblastoma. Freire-Benéitez V, et al. NAR Cancer, 2021 Mar. PMID 34316702, Free PMC Article
    5. Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS. Yamauchi T, et al. Cancer Cell, 2018 Mar 12. PMID 29478914, Free PMC Article

    See all (14) 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

    EBI GWAS Catalog

    Description
    Novel susceptibility genes associated with diabetic cataract in a Taiwanese population.
    EBI GWAS Catalog

    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

    • MGC10992, MGC13119

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of myosin complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 102A

    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_033212.4 → NP_149989.2  coiled-coil domain-containing protein 102A

      See identical proteins and their annotated locations for NP_149989.2

      Status: VALIDATED

      Source sequence(s)
      AC004382, BC009941, CA449463
      Consensus CDS
      CCDS10784.1
      UniProtKB/Swiss-Prot
      Q96A19, Q9BT74
      Related
      ENSP00000258214.2, ENST00000258214.3
      Conserved Domains (1) summary
      pfam16046
      Location:382 → 465
      FAM76; FAM76 protein

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      57512181..57537016 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523469.3 → XP_011521771.1  coiled-coil domain-containing protein 102A isoform X1

      See identical proteins and their annotated locations for XP_011521771.1

      UniProtKB/Swiss-Prot
      Q96A19, Q9BT74
      Conserved Domains (1) summary
      pfam16046
      Location:382 → 465
      FAM76; FAM76 protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      63307389..63331765 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96A19.2 GenPept UniProtKB/Swiss-Prot:Q96A19

    Gene LinkOut

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

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