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

    Gene ID: 151254, updated on 5-Feb-2023

    Summary

    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
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    Genomic context

    See C2CD6 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (201487421..201619178, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (201968199..202099830, complement)
    105.20220307 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 SCYL2 pseudogene 1 Neighboring gene STE20 related adaptor beta Neighboring gene uncharacterized LOC124906113 Neighboring gene MT-ATP6 pseudogene 16 Neighboring gene MT-CO1 pseudogene 16 Neighboring gene MT-CO2 pseudogene 16 Neighboring gene MT-ND4L 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 enolase 1 pseudogene 4 Neighboring gene RNA, U6 small nuclear 651, pseudogene Neighboring gene MAGUK p55 scaffold protein 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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

    Preferred Names
    cation channel sperm-associated targeting subunit tau; C2 calcium-dependent domain-containing protein 6
    Names
    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_001168216.2NP_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:84388
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11
    2. NM_001168217.2NP_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:84502
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11
    3. NM_001168221.2NP_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
      Q53TS8, Q96LN4
      Related
      ENSP00000409937.1, ENST00000439140.6
      Conserved Domains (1) summary
      pfam15729
      Location:84502
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11
    4. NM_152525.6NP_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/Swiss-Prot
      Q53TS8
      UniProtKB/TrEMBL
      A0A140VJE2
      Related
      ENSP00000286195.3, ENST00000286195.7
      Conserved Domains (1) summary
      pfam15729
      Location:84502
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    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_047443510.1XP_047299466.1  C2 calcium-dependent domain-containing protein 6 isoform X6

    2. XM_047443509.1XP_047299465.1  C2 calcium-dependent domain-containing protein 6 isoform X5

    3. XM_047443508.1XP_047299464.1  C2 calcium-dependent domain-containing protein 6 isoform X4

    4. XM_047443507.1XP_047299463.1  C2 calcium-dependent domain-containing protein 6 isoform X3

    5. XM_047443506.1XP_047299462.1  C2 calcium-dependent domain-containing protein 6 isoform X2

    6. XM_006712336.4XP_006712399.1  C2 calcium-dependent domain-containing protein 6 isoform X14

      Conserved Domains (1) summary
      pfam15729
      Location:84388
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11
    7. XM_024452728.2XP_024308496.1  C2 calcium-dependent domain-containing protein 6 isoform X10

      Conserved Domains (1) summary
      pfam15729
      Location:84501
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11
    8. XM_006712335.5XP_006712398.1  C2 calcium-dependent domain-containing protein 6 isoform X12

      Conserved Domains (1) summary
      pfam15729
      Location:84464
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11
    9. XM_006712333.4XP_006712396.1  C2 calcium-dependent domain-containing protein 6 isoform X11

      See identical proteins and their annotated locations for XP_006712396.1

      Conserved Domains (1) summary
      pfam15729
      Location:84464
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11
    10. XM_006712332.4XP_006712395.1  C2 calcium-dependent domain-containing protein 6 isoform X9

      Conserved Domains (1) summary
      pfam15729
      Location:84503
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11
    11. XM_006712331.4XP_006712394.1  C2 calcium-dependent domain-containing protein 6 isoform X8

      Conserved Domains (1) summary
      pfam15729
      Location:84503
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11
    12. XM_047443505.1XP_047299461.1  C2 calcium-dependent domain-containing protein 6 isoform X1

    13. XM_047443511.1XP_047299467.1  C2 calcium-dependent domain-containing protein 6 isoform X7

    14. XM_047443513.1XP_047299469.1  C2 calcium-dependent domain-containing protein 6 isoform X7

    15. XM_024452727.2XP_024308495.1  C2 calcium-dependent domain-containing protein 6 isoform X7

    16. XM_011510736.3XP_011509038.1  C2 calcium-dependent domain-containing protein 6 isoform X13

      See identical proteins and their annotated locations for XP_011509038.1

      UniProtKB/Swiss-Prot
      Q53TS8
      Conserved Domains (1) summary
      pfam15729
      Location:84388
      ALS2CR11; Amyotrophic lateral sclerosis 2 candidate 11
    17. XM_006712334.4XP_006712397.1  C2 calcium-dependent domain-containing protein 6 isoform X11

      See identical proteins and their annotated locations for XP_006712397.1

      Conserved Domains (1) summary
      pfam15729
      Location:84464
      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)