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    Ccdc34 coiled-coil domain containing 34 [ Mus musculus (house mouse) ]

    Gene ID: 68201, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Ccdc34provided by MGI
    Official Full Name
    coiled-coil domain containing 34provided by MGI
    Primary source
    MGI:MGI:1915451
    See related
    Ensembl:ENSMUSG00000027160 AllianceGenome:MGI:1915451
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2810027O19Rik; 4930522P10Rik
    Summary
    Involved in spermatogenesis. Located in sperm midpiece. Used to study spermatogenic failure. Human ortholog(s) of this gene implicated in spermatogenic failure 76. Orthologous to human CCDC34 (coiled-coil domain containing 34). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 8.5), liver E14 (RPKM 4.0) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ccdc34 in Genome Data Viewer
    Location:
    2 E3; 2 56.66 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (109847816..110006007)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (110017499..110175662)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E813 Neighboring gene STARR-seq mESC enhancer starr_05361 Neighboring gene STARR-positive B cell enhancer ABC_E5957 Neighboring gene pluripotency associated transcript 8 Neighboring gene STARR-seq mESC enhancer starr_05363 Neighboring gene leucine-rich repeat-containing G protein-coupled receptor 4 Neighboring gene STARR-positive B cell enhancer ABC_E5958 Neighboring gene coiled-coil domain containing 34, opposite strand Neighboring gene predicted gene, 30258 Neighboring gene STARR-seq mESC enhancer starr_05366 Neighboring gene lactate dehydrogenase A pseudogene Neighboring gene predicted gene, 22997

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice. Cong J, et al. J Med Genet, 2022 Jul. PMID 34348960
    2. Functional gene screening in embryonic stem cells implicates Wnt antagonism in neural differentiation. Aubert J, et al. Nat Biotechnol, 2002 Dec. PMID 12447396
    3. Differences in health status affect susceptibility and mapping of genetic loci for atherosclerosis (fatty streak) in inbred mice. Srivastava U, et al. Arterioscler Thromb Vasc Biol, 2012 Oct. PMID 22837474, Free PMC Article
    4. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
    5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in sperm midpiece IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm midpiece ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 34

    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_001355581.1 → NP_001342510.1  coiled-coil domain-containing protein 34 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AL928922, BC089458
      Conserved Domains (1) summary
      cl25548
      Location:17 → 135
      DUF4670; Domain of unknown function (DUF4670)

    2. NM_001355582.1 → NP_001342511.1  coiled-coil domain-containing protein 34 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AL928922
      Conserved Domains (1) summary
      cl25548
      Location:17 → 135
      DUF4670; Domain of unknown function (DUF4670)

    3. NM_026613.4 → NP_080889.3  coiled-coil domain-containing protein 34 isoform a

      See identical proteins and their annotated locations for NP_080889.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AK033555, AK147056, BQ748443
      Consensus CDS
      CCDS50655.1
      UniProtKB/Swiss-Prot
      Q3UI66, Q9CS29, Q9CS41
      Related
      ENSMUSP00000028580.6, ENSMUST00000028580.12
      Conserved Domains (1) summary
      pfam13904
      Location:63 → 315
      DUF4207; Domain of unknown function (DUF4207)

    RNA

    1. NR_149736.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon and uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL928922

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      109847816..110006007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011239755.4 → XP_011238057.1  coiled-coil domain-containing protein 34 isoform X2

      Conserved Domains (1) summary
      pfam13904
      Location:62 → 204
      DUF4207; Domain of unknown function (DUF4207)

    2. XM_011239754.3 → XP_011238056.1  coiled-coil domain-containing protein 34 isoform X1

      UniProtKB/TrEMBL
      F6QKZ7
      Related
      ENSMUSP00000130554.2, ENSMUST00000127630.8
      Conserved Domains (1) summary
      pfam13904
      Location:62 → 197
      DUF4207; Domain of unknown function (DUF4207)

    RNA

    1. XR_003953707.2 RNA Sequence

    2. XR_001783173.2 RNA Sequence

    3. XR_003953708.2 RNA Sequence

    4. XR_001783172.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UI66.1 GenPept UniProtKB/Swiss-Prot:Q3UI66

    Gene LinkOut

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

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