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    C2cd6 C2 calcium dependent domain containing 6 [ Mus musculus (house mouse) ]

    Gene ID: 73463, updated on 9-Dec-2024

    Summary

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    Official Symbol
    C2cd6provided by MGI
    Official Full Name
    C2 calcium dependent domain containing 6provided by MGI
    Primary source
    MGI:MGI:1920713
    See related
    Ensembl:ENSMUSG00000072295 AllianceGenome:MGI:1920713
    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
    C2cd6b; Gm33589; Als2cr11; Als2cr11b; 1700052H20Rik; 4930408G06Rik
    Summary
    Involved in flagellated sperm motility; sperm capacitation; and vesicle-mediated transport to the plasma membrane. Acts upstream of or within calcium ion transmembrane transport; protein-containing complex assembly; and single fertilization. Located in sperm principal piece. Part of CatSper complex. Is active in sperm flagellum. Human ortholog(s) of this gene implicated in spermatogenic failure 68. Orthologous to human C2CD6 (C2 calcium dependent domain containing 6). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis adult (RPKM 30.5) See more
    Orthologs
    human all
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    Genomic context

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    See C2cd6 in Genome Data Viewer
    Location:
    1 C1.3; 1 29.2 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (59036275..59134283, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (58997116..59095023, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene 28802 Neighboring gene STARR-seq mESC enhancer starr_01024 Neighboring gene STARR-seq mESC enhancer starr_01025 Neighboring gene trafficking protein, kinesin binding 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:59013204-59013435 Neighboring gene STARR-seq mESC enhancer starr_01027 Neighboring gene STARR-positive B cell enhancer ABC_E982 Neighboring gene STE20-related kinase adaptor beta Neighboring gene STARR-seq mESC enhancer starr_01029 Neighboring gene predicted gene 29018 Neighboring gene predicted gene, 25502 Neighboring gene transmembrane protein 237 Neighboring gene STARR-seq mESC enhancer starr_01030 Neighboring gene membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) Neighboring gene predicted gene, 19125

    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. C2CD6 regulates targeting and organization of the CatSper calcium channel complex in sperm flagella. Yang F, et al. Development, 2022 Jan 15. PMID 34919125, Free PMC Article
    2. C2cd6-encoded CatSperτ targets sperm calcium channel to Ca(2+) signaling domains in the flagellar membrane. Hwang JY, et al. Cell Rep, 2022 Jan 18. PMID 34998468, Free PMC Article
    3. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    4. 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
    5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

    See all (13) 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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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within calcium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein-containing complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within single fertilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sperm capacitation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm capacitation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle-mediated transport to the plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of CatSper complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of CatSper complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    part_of CatSper complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm principal piece IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm principal piece ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    cation channel sperm-associated targeting subunit tau
    Names
    C2 calcium dependent domain containing 6B
    C2 calcium-dependent domain-containing protein 6
    C2CD6 long isoform
    amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11
    amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11B
    catSper-tau

    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_026600.1 → NP_080876.1  cation channel sperm-associated targeting subunit tau isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC133162, AC169382
      Consensus CDS
      CCDS87833.1
      UniProtKB/Swiss-Prot
      A0A5F8MPU3, E9Q152
      Related
      ENSMUSP00000159118.2, ENSMUST00000238949.2
      Conserved Domains (2) summary
      PTZ00108
      Location:739 → 997
      PTZ00108; DNA topoisomerase 2-like protein; Provisional
      pfam15729
      Location:128 → 533
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    2. NM_175200.4 → NP_780409.2  cation channel sperm-associated targeting subunit tau isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK076617, BB614746
      Consensus CDS
      CCDS14982.2
      UniProtKB/TrEMBL
      E9Q152, Q8C639
      Related
      ENSMUSP00000094845.4, ENSMUST00000097080.4
      Conserved Domains (1) summary
      pfam15729
      Location:128 → 533
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      59036275..59134283 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017313438.2 → XP_017168927.1  cation channel sperm-associated targeting subunit tau isoform X4

      Conserved Domains (1) summary
      NF000535
      Location:102 → 350
      MSCRAMM_SdrC; MSCRAMM family adhesin SdrC

    2. XM_011238636.3 → XP_011236938.1  cation channel sperm-associated targeting subunit tau isoform X3

      See identical proteins and their annotated locations for XP_011236938.1

      Conserved Domains (1) summary
      NF000535
      Location:102 → 350
      MSCRAMM_SdrC; MSCRAMM family adhesin SdrC

    3. XM_011238635.3 → XP_011236937.1  cation channel sperm-associated targeting subunit tau isoform X2

      Conserved Domains (1) summary
      COG5099
      Location:181 → 436
      COG5099; RNA-binding protein of the Puf family, translational repressor [Translation, ribosomal structure and biogenesis]

    4. XM_011238634.3 → XP_011236936.1  cation channel sperm-associated targeting subunit tau isoform X1

      Conserved Domains (1) summary
      PTZ00108
      Location:202 → 460
      PTZ00108; DNA topoisomerase 2-like protein; Provisional

    5. XM_011238605.4 → XP_011236907.1  cation channel sperm-associated targeting subunit tau isoform X5

      Conserved Domains (1) summary
      pfam15729
      Location:128 → 534
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    6. XM_030243180.1 → XP_030099040.1  cation channel sperm-associated targeting subunit tau isoform X7

      UniProtKB/TrEMBL
      Q8C639
      Conserved Domains (1) summary
      pfam15729
      Location:29 → 434
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    7. XM_017312469.1 → XP_017167958.1  cation channel sperm-associated targeting subunit tau isoform X6

      UniProtKB/TrEMBL
      Q8C639
      Conserved Domains (1) summary
      pfam15729
      Location:29 → 435
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A5F8MPU3.1 GenPept UniProtKB/Swiss-Prot:A0A5F8MPU3

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