U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    CCDC39 coiled-coil domain 39 molecular ruler complex subunit [ Homo sapiens (human) ]

    Gene ID: 339829, updated on 3-Nov-2024

    Summary

    Official Symbol
    CCDC39provided by HGNC
    Official Full Name
    coiled-coil domain 39 molecular ruler complex subunitprovided by HGNC
    Primary source
    HGNC:HGNC:25244
    See related
    Ensembl:ENSG00000284862 MIM:613798; AllianceGenome:HGNC:25244
    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
    FAP59; CFAP59; CILD14
    Summary
    The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]
    Expression
    Broad expression in testis (RPKM 5.3), lymph node (RPKM 2.5) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CCDC39 in Genome Data Viewer
    Location:
    3q26.33
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (180614008..180679489, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (183415869..183481362, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (180331796..180397277, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene TTC14 divergent transcript Neighboring gene U8 small nucleolar RNA Neighboring gene RNA, U6 small nuclear 486, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20875 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:180323279-180323534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14926 Neighboring gene tetratricopeptide repeat domain 14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20877 Neighboring gene CCDC39 antisense RNA 1 Neighboring gene uncharacterized LOC101928882 Neighboring gene VISTA enhancer hs258 Neighboring gene RNA, 7SL, cytoplasmic 229, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • DKFZp434A128

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in axonemal dynein complex assembly PubMed 
    involved_in brain development  
    involved_in cerebrospinal fluid circulation  
    acts_upstream_of_or_within cilium movement PubMed 
    involved_in cilium-dependent cell motility  
    involved_in cilium-dependent cell motility PubMed 
    involved_in determination of digestive tract left/right asymmetry PubMed 
    involved_in determination of liver left/right asymmetry PubMed 
    involved_in determination of pancreatic left/right asymmetry PubMed 
    involved_in epithelial cilium movement involved in determination of left/right asymmetry  
    involved_in epithelial cilium movement involved in determination of left/right asymmetry PubMed 
    involved_in establishment of left/right asymmetry  
    involved_in establishment of localization in cell  
    acts_upstream_of_or_within flagellated sperm motility PubMed 
    involved_in heart looping PubMed 
    involved_in inner dynein arm assembly  
    acts_upstream_of_or_within inner dynein arm assembly PubMed 
    involved_in lung development PubMed 
    acts_upstream_of_or_within motile cilium assembly PubMed 
    involved_in protein localization to cilium  
    acts_upstream_of_or_within regulation of cilium beat frequency PubMed 
    Component Evidence Code Pubs
    is_active_in axoneme  
    located_in axoneme PubMed 
    located_in cilium PubMed 
    located_in cytosol  
    located_in extracellular region  

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 39
    Names
    coiled-coil domain containing 39

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_029581.1 RefSeqGene

      Range
      5007..70488
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_181426.2NP_852091.1  coiled-coil domain-containing protein 39

      See identical proteins and their annotated locations for NP_852091.1

      Status: VALIDATED

      Source sequence(s)
      AL122120, BG205877, DC399927
      Consensus CDS
      CCDS46964.1
      UniProtKB/Swiss-Prot
      B4E2H1, Q9UFE4
      UniProtKB/TrEMBL
      A0A494C1Q3
      Related
      ENSP00000417960.2, ENST00000476379.6
      Conserved Domains (1) summary
      COG1196
      Location:22848
      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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      180614008..180679489 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      183415869..183481362 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    External link. Please review our privacy policy.