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    CCDC65 coiled-coil domain containing 65 [ Homo sapiens (human) ]

    Gene ID: 85478, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCDC65provided by HGNC
    Official Full Name
    coiled-coil domain containing 65provided by HGNC
    Primary source
    HGNC:HGNC:29937
    See related
    Ensembl:ENSG00000139537 MIM:611088; AllianceGenome:HGNC:29937
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DRC2; FAP250; CFAP250; NYD-SP28
    Summary
    This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]
    Expression
    Biased expression in testis (RPKM 23.6), lung (RPKM 1.9) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC65 in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (48904133..48921576)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (48866309..48883770)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49297916..49315359)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 600, pseudogene Neighboring gene MPRA-validated peak1724 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4414 Neighboring gene ribosomal protein L32 pseudogene 27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6296 Neighboring gene FKBP prolyl isomerase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4415 Neighboring gene ARF GTPase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49338542-49339042 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49340991-49341204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49341223-49341815 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49349467-49350462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6297 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49353706-49353915 Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Cloning and characterization of a novel sperm tail protein, NYD-SP28. Zheng Y, et al. Int J Mol Med, 2006 Dec. PMID 17089017
    2. Building blocks of the nexin-dynein regulatory complex in Chlamydomonas flagella. Lin J, et al. J Biol Chem, 2011 Aug 19. PMID 21700706, Free PMC Article
    3. CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. Horani A, et al. PLoS One, 2013. PMID 23991085, Free PMC Article
    4. CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans. Jreijiri F, et al. Clin Genet, 2024 Mar. PMID 37975235
    5. CCDC65, a Gene Knockout that leads to Early Death of Mice, acts as a potentially Novel Tumor Suppressor in Lung Adenocarcinoma. Zhang Z, et al. Int J Biol Sci, 2022. PMID 35844805, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans.
      Title: CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans.
    2. CCDC65 as a new potential tumor suppressor induced by metformin inhibits activation of AKT1 via ubiquitination of ENO1 in gastric cancer.
      Title: CCDC65 as a new potential tumor suppressor induced by metformin inhibits activation of AKT1 via ubiquitination of ENO1 in gastric cancer.
    3. Mutation in CCDC65, a nexin-dynein regulatory complex member, resulted in a frameshift mutation and PCD
      Title: CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.
    4. NYD-SP28, a sperm tail protein, was cloned and characterized.
      Title: Cloning and characterization of a novel sperm tail protein, NYD-SP28.
    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

    Associated conditions

    Description Tests
    Primary ciliary dyskinesia 27
    MedGen: C3809701 OMIM: 615504 GeneReviews: Primary Ciliary Dyskinesia
    		Compare labs

    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

    • FLJ25663, FLJ35732

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axonemal dynein complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium-dependent cell motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of axonemal dynein complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dynein regulatory complex subunit 2
    Names
    testis development protein NYD-SP28

    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.

    Genomic

    1. NG_033837.1 RefSeqGene

      Range
      5024..22467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286957.2 → NP_001273886.1  dynein regulatory complex subunit 2 isoform 2

      See identical proteins and their annotated locations for NP_001273886.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses alternate splice sites in the 5' coding region and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK302082, CA314956
      UniProtKB/TrEMBL
      B4DXQ7

    2. NM_033124.5 → NP_149115.2  dynein regulatory complex subunit 2 isoform 1

      See identical proteins and their annotated locations for NP_149115.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC039317, CA314956, DB026303
      Consensus CDS
      CCDS8772.1
      UniProtKB/Swiss-Prot
      A6NJG5, B2RBE2, Q8IXS2, Q8N7G4, Q8NA91, Q96JA0
      Related
      ENSP00000312706.4, ENST00000320516.5
      Conserved Domains (1) summary
      pfam14772
      Location:27 → 124
      NYD-SP28; Sperm tail

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      48904133..48921576
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      48866309..48883770
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXS2.2 GenPept UniProtKB/Swiss-Prot:Q8IXS2

    Gene LinkOut

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

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