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    CCDC146 coiled-coil domain containing 146 [ Homo sapiens (human) ]

    Gene ID: 57639, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CCDC146provided by HGNC
    Official Full Name
    coiled-coil domain containing 146provided by HGNC
    Primary source
    HGNC:HGNC:29296
    See related
    Ensembl:ENSG00000135205 MIM:619829; AllianceGenome:HGNC:29296
    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
    MBO2; SPGF94
    Summary
    Involved in spermatid development. Located in several cellular components, including microtubule organizing center; midbody; and sperm flagellum. Implicated in spermatogenic failure 94. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 14.9), skin (RPKM 7.4) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC146 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (77122615..77295204)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (78373727..78546266)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (76751932..76924521)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene SNF2 related chromatin remodeling ATPase 5 pseudogene Neighboring gene family with sequence similarity 185, member A pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76750721-76751222 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76751223-76751722 Neighboring gene uncharacterized LOC124901678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26203 Neighboring gene ribosomal protein L7a pseudogene 43 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26204 Neighboring gene uncharacterized LOC105375359 Neighboring gene fibrinogen like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18319 Neighboring gene uncharacterized LOC102723791 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:76900911-76901093 Neighboring gene NANOG hESC enhancer GRCh37_chr7:76945409-76945910 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:76977350-76977924 Neighboring gene gamma-secretase activating protein Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:77021860-77023059 Neighboring gene uncharacterized LOC101927243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18322 Neighboring gene small nucleolar RNA U13

    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 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. Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse. Muroňová J, et al. Elife, 2024 Mar 5. PMID 38441556, Free PMC Article
    2. Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice. Ye JW, et al. Zool Res, 2024 Sep 18. PMID 39245651, Free PMC Article
    3. The Human Centrosomal Protein CCDC146 Binds Chlamydia trachomatis Inclusion Membrane Protein CT288 and Is Recruited to the Periphery of the Chlamydia-Containing Vacuole. Almeida F, et al. Front Cell Infect Microbiol, 2018. PMID 30094225, Free PMC Article
    4. Enoyl-CoA hydratase-1 regulates mTOR signaling and apoptosis by sensing nutrients. Zhang YK, et al. Nat Commun, 2017 Sep 6. PMID 28878358, Free PMC Article
    5. Proteomic analysis of mammalian sperm cells identifies new components of the centrosome. Firat-Karalar EN, et al. J Cell Sci, 2014 Oct 1. PMID 25074808, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice.
      Title: Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice.
    2. Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.
      Title: Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.
    3. The results suggest a model in which chlamydial proteins other than CT288 recruit CCDC146 to the periphery of the inclusion, where the CT288-CCDC146 interaction might contribute to modulate the function of this host protein.
      Title: The Human Centrosomal Protein CCDC146 Binds Chlamydia trachomatis Inclusion Membrane Protein CT288 and Is Recruited to the Periphery of the Chlamydia-Containing Vacuole.
    4. 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.
    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
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    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

    • KIAA1505

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in manchette assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in nucleus organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sperm axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sperm flagellum assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatid development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm head-tail coupling apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 146

    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_020879.3 → NP_065930.2  coiled-coil domain-containing protein 146

      See identical proteins and their annotated locations for NP_065930.2

      Status: VALIDATED

      Source sequence(s)
      AC007000, AK056542, BC036053, DB099681
      Consensus CDS
      CCDS34671.1
      UniProtKB/Swiss-Prot
      A8K8X6, Q8IYE0, Q9P223
      Related
      ENSP00000285871.4, ENST00000285871.5
      Conserved Domains (1) summary
      COG1196
      Location:68 → 859
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      77122615..77295204
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420662.1 → XP_047276618.1  coiled-coil domain-containing protein 146 isoform X1

      UniProtKB/Swiss-Prot
      A8K8X6, Q8IYE0, Q9P223

    2. XM_047420664.1 → XP_047276620.1  coiled-coil domain-containing protein 146 isoform X3

    3. XM_047420669.1 → XP_047276625.1  coiled-coil domain-containing protein 146 isoform X8

      Related
      ENST00000415740.6

    4. XM_047420665.1 → XP_047276621.1  coiled-coil domain-containing protein 146 isoform X4

    5. XM_047420663.1 → XP_047276619.1  coiled-coil domain-containing protein 146 isoform X2

    6. XM_047420666.1 → XP_047276622.1  coiled-coil domain-containing protein 146 isoform X5

    7. XM_047420668.1 → XP_047276624.1  coiled-coil domain-containing protein 146 isoform X7

    8. XM_047420667.1 → XP_047276623.1  coiled-coil domain-containing protein 146 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      78373727..78546266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358720.1 → XP_054214695.1  coiled-coil domain-containing protein 146 isoform X1

      UniProtKB/Swiss-Prot
      A8K8X6, Q8IYE0, Q9P223

    2. XM_054358722.1 → XP_054214697.1  coiled-coil domain-containing protein 146 isoform X3

    3. XM_054358727.1 → XP_054214702.1  coiled-coil domain-containing protein 146 isoform X8

    4. XM_054358723.1 → XP_054214698.1  coiled-coil domain-containing protein 146 isoform X4

    5. XM_054358724.1 → XP_054214699.1  coiled-coil domain-containing protein 146 isoform X5

    6. XM_054358721.1 → XP_054214696.1  coiled-coil domain-containing protein 146 isoform X2

    7. XM_054358726.1 → XP_054214701.1  coiled-coil domain-containing protein 146 isoform X7

    8. XM_054358725.1 → XP_054214700.1  coiled-coil domain-containing protein 146 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYE0.2 GenPept UniProtKB/Swiss-Prot:Q8IYE0

    Gene LinkOut

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

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