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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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