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    CCDC27 coiled-coil domain containing 27 [ Homo sapiens (human) ]

    Gene ID: 148870, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CCDC27provided by HGNC
    Official Full Name
    coiled-coil domain containing 27provided by HGNC
    Primary source
    HGNC:HGNC:26546
    See related
    Ensembl:ENSG00000162592 AllianceGenome:HGNC:26546
    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
    Restricted expression toward testis (RPKM 5.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC27 in Genome Data Viewer
    Location:
    1p36.32
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (3752450..3771645)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (3264051..3283241)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (3669014..3688209)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tumor protein p73 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:3631158-3631397 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3634425-3634984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3634985-3635544 Neighboring gene TP73 antisense RNA 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3636665-3637223 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3637224-3637783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3637784-3638342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 65 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3650019-3650807 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3661686-3662521 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3662522-3663358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 123 Neighboring gene Gfo/Idh/MocA-like oxidoreductase domain containing 3, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3678785-3679286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3679287-3679786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3687696-3688374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3689661-3690176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3690177-3690692 Neighboring gene MPRA functional variant 1:3691528:A:G red blood cell enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3691725-3692240 Neighboring gene small integral membrane protein 1 (Vel blood group) Neighboring gene RNA, 7SL, cytoplasmic 574, pseudogene Neighboring gene leucine rich repeat containing 47

    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. High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density. Zhang H, et al. Osteoporos Int, 2009 Feb. PMID 18597038
    2. The E3 ubiquitin ligase thyroid hormone receptor-interacting protein 12 targets pancreas transcription factor 1a for proteasomal degradation. Hanoun N, et al. J Biol Chem, 2014 Dec 19. PMID 25355311, Free PMC Article
    3. Genome-wide association study identifies loci affecting blood copper, selenium and zinc. Evans DM, et al. Hum Mol Genet, 2013 Oct 1. PMID 23720494, Free PMC Article
    4. Combined treatment of human multiple myeloma cells with bortezomib and doxorubicin alters the interactome of 20S proteasomes. Mittenberg AG, et al. Cell Cycle, 2018. PMID 30009671, Free PMC Article
    5. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. Fox CS, et al. PLoS Genet, 2012. PMID 22589738, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32825, MGC138313, MGC138317

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 27

    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_152492.3 → NP_689705.2  coiled-coil domain-containing protein 27

      See identical proteins and their annotated locations for NP_689705.2

      Status: VALIDATED

      Source sequence(s)
      AK057387, AL136528, BC112112, DB048639
      Consensus CDS
      CCDS50.1
      UniProtKB/Swiss-Prot
      Q2M243, Q5TBV3, Q96M50
      Related
      ENSP00000294600.2, ENST00000294600.7
      Conserved Domains (3) summary
      pfam10211
      Location:425 → 511
      Ax_dynein_light; Axonemal dynein light chain
      pfam10267
      Location:465 → 587
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
      pfam15619
      Location:443 → 606
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      3752450..3771645
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      3264051..3283241
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2M243.2 GenPept UniProtKB/Swiss-Prot:Q2M243

    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
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