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    C2CD6 C2 calcium dependent domain containing 6 [ Homo sapiens (human) ]

    Gene ID: 151254, updated on 28-Oct-2024

    Summary

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    Official Symbol
    C2CD6provided by HGNC
    Official Full Name
    C2 calcium dependent domain containing 6provided by HGNC
    Primary source
    HGNC:HGNC:14438
    See related
    Ensembl:ENSG00000155754 MIM:619776; AllianceGenome:HGNC:14438
    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
    SPGF68; ALS2CR11
    Summary
    An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction. [provided by RefSeq, Jun 2016]
    Expression
    Restricted expression toward testis (RPKM 13.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See C2CD6 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (201487421..201619178, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (201968199..202099830, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202352144..202483901, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene trafficking kinesin protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202289002-202289502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202289503-202290003 Neighboring gene SCYL2 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:202315536-202316390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12232 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:202329405-202329904 Neighboring gene STE20 related adaptor beta Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:202348230-202348988 Neighboring gene uncharacterized LOC124906113 Neighboring gene MPRA-validated peak4010 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12233 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:202427174-202427863 Neighboring gene MT-ATP6 pseudogene 16 Neighboring gene MT-CO1 pseudogene 16 Neighboring gene MT-ND4L pseudogene 16 Neighboring gene MT-CO2 pseudogene 16 Neighboring gene MT-CO3 pseudogene 16 Neighboring gene MT-ND3 pseudogene 16 Neighboring gene MT-ND4 pseudogene 29 Neighboring gene MT-ND5 pseudogene 31 Neighboring gene transmembrane protein 237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12235 Neighboring gene enolase 1 pseudogene 4 Neighboring gene RNA, U6 small nuclear 651, pseudogene Neighboring gene MAGUK p55 scaffold protein 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. Lin WY, et al. Hum Mol Genet, 2015 Jan 1. PMID 25168388, 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. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Hadano S, et al. Nat Genet, 2001 Oct. PMID 11586298
    4. Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis. Jia L, et al. Genomics, 2002 Jan. PMID 11827452
    5. Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage. Hill SJ, et al. Genes Dev, 2014 Sep 1. PMID 25184681, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Spermatogenic failure 68
    MedGen: C5676949 OMIM: 619805 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25351, FLJ40332, DKFZp686H0636

    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 flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sperm capacitation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in vesicle-mediated transport to the plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of CatSper complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm principal piece IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cation channel sperm-associated targeting subunit tau
    Names
    C2 calcium-dependent domain-containing protein 6
    amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11
    amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein
    amyotrophic lateral sclerosis 2 chromosome region candidate 11
    catSper-tau
    testicular tissue protein Li 16

    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_051007.2 RefSeqGene

      Range
      5000..136757
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001168216.2 → NP_001161688.1  cation channel sperm-associated targeting subunit tau isoform 4

      See identical proteins and their annotated locations for NP_001161688.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks several alternate exons in the 3' coding region, compared to variant 1, one of which results in a frameshift. The resulting protein (isoform 4) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC007282
      Consensus CDS
      CCDS54428.1
      UniProtKB/Swiss-Prot
      Q53TS8
      Related
      ENSP00000400672.1, ENST00000439802.5
      Conserved Domains (1) summary
      pfam15729
      Location:84 → 388
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    2. NM_001168217.2 → NP_001161689.1  cation channel sperm-associated targeting subunit tau isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and 3' coding region, compared to variant 1. It encodes isoform 3 which has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC007282
      Consensus CDS
      CCDS54429.1
      UniProtKB/Swiss-Prot
      Q53TS8
      Related
      ENSP00000399016.1, ENST00000450242.1
      Conserved Domains (1) summary
      pfam15729
      Location:84 → 502
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    3. NM_001168221.2 → NP_001161693.1  cation channel sperm-associated targeting subunit tau isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC007282
      Consensus CDS
      CCDS54430.1
      UniProtKB/Swiss-Prot
      C9IZH7, E9PGG4, Q53TS8, Q8NCN6, Q96LN4
      Related
      ENSP00000409937.1, ENST00000439140.6
      Conserved Domains (1) summary
      pfam15729
      Location:84 → 502
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    4. NM_152525.6 → NP_689738.3  cation channel sperm-associated targeting subunit tau isoform 2

      See identical proteins and their annotated locations for NP_689738.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AC007282
      Consensus CDS
      CCDS2349.1
      UniProtKB/TrEMBL
      A0A140VJE2
      Related
      ENSP00000286195.3, ENST00000286195.7
      Conserved Domains (1) summary
      pfam15729
      Location:84 → 502
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      201487421..201619178 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443510.1 → XP_047299466.1  cation channel sperm-associated targeting subunit tau isoform X6

    2. XM_047443509.1 → XP_047299465.1  cation channel sperm-associated targeting subunit tau isoform X5

    3. XM_047443508.1 → XP_047299464.1  cation channel sperm-associated targeting subunit tau isoform X4

    4. XM_047443507.1 → XP_047299463.1  cation channel sperm-associated targeting subunit tau isoform X3

    5. XM_047443506.1 → XP_047299462.1  cation channel sperm-associated targeting subunit tau isoform X2

    6. XM_006712336.4 → XP_006712399.1  cation channel sperm-associated targeting subunit tau isoform X14

      Conserved Domains (1) summary
      pfam15729
      Location:84 → 388
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    7. XM_024452728.2 → XP_024308496.1  cation channel sperm-associated targeting subunit tau isoform X10

      Conserved Domains (1) summary
      pfam15729
      Location:84 → 501
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    8. XM_006712335.5 → XP_006712398.1  cation channel sperm-associated targeting subunit tau isoform X12

      Conserved Domains (1) summary
      pfam15729
      Location:84 → 464
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    9. XM_006712333.4 → XP_006712396.1  cation channel sperm-associated targeting subunit tau isoform X11

      See identical proteins and their annotated locations for XP_006712396.1

      Conserved Domains (1) summary
      pfam15729
      Location:84 → 464
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    10. XM_006712332.4 → XP_006712395.1  cation channel sperm-associated targeting subunit tau isoform X9

      Conserved Domains (1) summary
      pfam15729
      Location:84 → 503
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    11. XM_006712331.4 → XP_006712394.1  cation channel sperm-associated targeting subunit tau isoform X8

      Conserved Domains (1) summary
      pfam15729
      Location:84 → 503
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    12. XM_047443505.1 → XP_047299461.1  cation channel sperm-associated targeting subunit tau isoform X1

    13. XM_047443511.1 → XP_047299467.1  cation channel sperm-associated targeting subunit tau isoform X7

    14. XM_047443513.1 → XP_047299469.1  cation channel sperm-associated targeting subunit tau isoform X7

    15. XM_024452727.2 → XP_024308495.1  cation channel sperm-associated targeting subunit tau isoform X7

    16. XM_011510736.3 → XP_011509038.1  cation channel sperm-associated targeting subunit tau isoform X13

      See identical proteins and their annotated locations for XP_011509038.1

      UniProtKB/Swiss-Prot
      Q53TS8
      Conserved Domains (1) summary
      pfam15729
      Location:84 → 388
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    17. XM_006712334.4 → XP_006712397.1  cation channel sperm-associated targeting subunit tau isoform X11

      See identical proteins and their annotated locations for XP_006712397.1

      Conserved Domains (1) summary
      pfam15729
      Location:84 → 464
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    RNA

    1. XR_007069662.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      201968199..202099830 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340770.1 → XP_054196745.1  cation channel sperm-associated targeting subunit tau isoform X6

    2. XM_054340769.1 → XP_054196744.1  cation channel sperm-associated targeting subunit tau isoform X5

    3. XM_054340768.1 → XP_054196743.1  cation channel sperm-associated targeting subunit tau isoform X4

    4. XM_054340767.1 → XP_054196742.1  cation channel sperm-associated targeting subunit tau isoform X3

    5. XM_054340766.1 → XP_054196741.1  cation channel sperm-associated targeting subunit tau isoform X2

    6. XM_054340778.1 → XP_054196753.1  cation channel sperm-associated targeting subunit tau isoform X14

    7. XM_054340773.1 → XP_054196748.1  cation channel sperm-associated targeting subunit tau isoform X10

    8. XM_054340776.1 → XP_054196751.1  cation channel sperm-associated targeting subunit tau isoform X12

    9. XM_054340774.1 → XP_054196749.1  cation channel sperm-associated targeting subunit tau isoform X11

    10. XM_054340772.1 → XP_054196747.1  cation channel sperm-associated targeting subunit tau isoform X9

    11. XM_054340771.1 → XP_054196746.1  cation channel sperm-associated targeting subunit tau isoform X8

    12. XM_054340765.1 → XP_054196740.1  cation channel sperm-associated targeting subunit tau isoform X1

    13. XM_054340777.1 → XP_054196752.1  cation channel sperm-associated targeting subunit tau isoform X13

    14. XM_054340775.1 → XP_054196750.1  cation channel sperm-associated targeting subunit tau isoform X11

    RNA

    1. XR_008486293.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53TS8.2 GenPept UniProtKB/Swiss-Prot:Q53TS8

    Gene LinkOut

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

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