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

Gene ID: 151254, updated on 2-Nov-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
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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

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