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    CCDC68 coiled-coil domain containing 68 [ Homo sapiens (human) ]

    Gene ID: 80323, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CCDC68provided by HGNC
    Official Full Name
    coiled-coil domain containing 68provided by HGNC
    Primary source
    HGNC:HGNC:24350
    See related
    Ensembl:ENSG00000166510 MIM:616909; AllianceGenome:HGNC:24350
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SE57-1
    Summary
    Involved in microtubule anchoring at centrosome and protein localization. Located in centriole. Part of centriolar subdistal appendage. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in placenta (RPKM 6.2), small intestine (RPKM 5.9) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC68 in Genome Data Viewer
    Location:
    18q21.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (54901509..54959461, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (55104591..55162630, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (52568740..52626692, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904308 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:52274507-52275298 Neighboring gene Sharpr-MPRA regulatory region 14135 Neighboring gene Sharpr-MPRA regulatory region 5858 Neighboring gene RAB27B, member RAS oncogene family Neighboring gene ribosomal protein SA pseudogene 57 Neighboring gene Sharpr-MPRA regulatory region 14713 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:52573135-52573366 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:52635171-52636370 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:52642293-52643492 Neighboring gene microtubule associated protein 1 light chain 3 pseudogene Neighboring gene uncharacterized LOC107985125 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:52673697-52674896 Neighboring gene VISTA enhancer hs1013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13351 Neighboring gene long intergenic non-protein coding RNA 3035

    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. Tissue expression and sero-reactivity of tumor-specific antigens in colorectal cancer. Gerhardt A, et al. Cancer Lett, 2004 May 28. PMID 15142679
    2. Coiled-coil domain containing 68 (CCDC68) demonstrates a tumor-suppressive role in pancreatic ductal adenocarcinoma. Radulovich N, et al. Oncogene, 2015 Aug 6. PMID 25381825, Free PMC Article
    3. CCDC68 Maintains Mitotic Checkpoint Activation by Promoting CDC20 Integration into the MCC. Li Q, et al. Adv Sci (Weinh), 2024 Sep. PMID 39018254, Free PMC Article
    4. CCDC68 Upregulation by IL-6 Promotes Endometrial Carcinoma Progression. Li X, et al. J Interferon Cytokine Res, 2021 Jan. PMID 33471616
    5. Hierarchical assembly of centriole subdistal appendages via centrosome binding proteins CCDC120 and CCDC68. Huang N, et al. Nat Commun, 2017 Apr 19. PMID 28422092, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CCDC68 Maintains Mitotic Checkpoint Activation by Promoting CDC20 Integration into the MCC.
      Title: CCDC68 Maintains Mitotic Checkpoint Activation by Promoting CDC20 Integration into the MCC.
    2. CCDC68 Upregulation by IL-6 Promotes Endometrial Carcinoma Progression.
      Title: CCDC68 Upregulation by IL-6 Promotes Endometrial Carcinoma Progression.
    3. centrosome-binding proteins, coiled-coil domain containing (CCDC) 120 and CCDC68 are two novel subdistal appendages (SDA) components required for hierarchical SDA assembly in human cells.
      Title: Hierarchical assembly of centriole subdistal appendages via centrosome binding proteins CCDC120 and CCDC68.
    4. Data indicate coiled-coil domain containing 68 (CCDC68) as a tumor suppressor gene (TSG) in pancreatic ductal adenocarcinoma (PDAC).
      Title: Coiled-coil domain containing 68 (CCDC68) demonstrates a tumor-suppressive role in pancreatic ductal adenocarcinoma.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies five new schizophrenia loci.
    EBI GWAS Catalog
    Genome-wide meta-analysis for severe diabetic retinopathy.
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog

    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

    • FLJ25368

    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 microtubule anchoring at centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in microtubule anchoring at centrosome IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in microtubule anchoring at centrosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of centriolar subdistal appendage IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 68
    Names
    CTCL tumor antigen se57-1
    CTCL-associated antigen se57-1
    cutaneous T-cell lymphoma associated antigen
    cutaneous T-cell lymphoma-associated antigen se57-1

    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_001143829.2 → NP_001137301.1  coiled-coil domain-containing protein 68

      See identical proteins and their annotated locations for NP_001137301.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC098848, AI823801, AK058097
      Consensus CDS
      CCDS11959.1
      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9
      Related
      ENSP00000337209.3, ENST00000337363.8
      Conserved Domains (1) summary
      cl25732
      Location:93 → 300
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_025214.3 → NP_079490.1  coiled-coil domain-containing protein 68

      See identical proteins and their annotated locations for NP_079490.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC098848, AI823801
      Consensus CDS
      CCDS11959.1
      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9
      Related
      ENSP00000466690.1, ENST00000591504.6
      Conserved Domains (1) summary
      cl25732
      Location:93 → 300
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      54901509..54959461 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526199.3 → XP_011524501.1  coiled-coil domain-containing protein 68 isoform X1

      See identical proteins and their annotated locations for XP_011524501.1

      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9
      Conserved Domains (1) summary
      cl25732
      Location:93 → 300
      SMC_N; RecF/RecN/SMC N terminal domain

    2. XM_047437870.1 → XP_047293826.1  coiled-coil domain-containing protein 68 isoform X3

    3. XM_047437867.1 → XP_047293823.1  coiled-coil domain-containing protein 68 isoform X2

    4. XM_047437864.1 → XP_047293820.1  coiled-coil domain-containing protein 68 isoform X1

      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9

    5. XM_011526203.3 → XP_011524505.1  coiled-coil domain-containing protein 68 isoform X3

      Conserved Domains (1) summary
      pfam08702
      Location:114 → 247
      Fib_alpha; Fibrinogen alpha/beta chain family

    6. XM_011526202.2 → XP_011524504.1  coiled-coil domain-containing protein 68 isoform X2

      Conserved Domains (1) summary
      COG1196
      Location:133 → 291
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    7. XM_017026011.2 → XP_016881500.1  coiled-coil domain-containing protein 68 isoform X3

      Conserved Domains (1) summary
      pfam08702
      Location:114 → 247
      Fib_alpha; Fibrinogen alpha/beta chain family

    8. XM_011526200.3 → XP_011524502.1  coiled-coil domain-containing protein 68 isoform X1

      See identical proteins and their annotated locations for XP_011524502.1

      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9
      Conserved Domains (1) summary
      cl25732
      Location:93 → 300
      SMC_N; RecF/RecN/SMC N terminal domain

    9. XM_047437868.1 → XP_047293824.1  coiled-coil domain-containing protein 68 isoform X2

    10. XM_047437865.1 → XP_047293821.1  coiled-coil domain-containing protein 68 isoform X1

      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9

    11. XM_047437869.1 → XP_047293825.1  coiled-coil domain-containing protein 68 isoform X3

    12. XM_006722552.4 → XP_006722615.1  coiled-coil domain-containing protein 68 isoform X1

      See identical proteins and their annotated locations for XP_006722615.1

      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9
      Conserved Domains (1) summary
      cl25732
      Location:93 → 300
      SMC_N; RecF/RecN/SMC N terminal domain

    13. XM_011526201.3 → XP_011524503.1  coiled-coil domain-containing protein 68 isoform X1

      See identical proteins and their annotated locations for XP_011524503.1

      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9
      Related
      ENSP00000413406.1, ENST00000432185.5
      Conserved Domains (1) summary
      cl25732
      Location:93 → 300
      SMC_N; RecF/RecN/SMC N terminal domain

    14. XM_047437871.1 → XP_047293827.1  coiled-coil domain-containing protein 68 isoform X3

    15. XM_047437866.1 → XP_047293822.1  coiled-coil domain-containing protein 68 isoform X1

      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9

    16. XM_047437873.1 → XP_047293829.1  coiled-coil domain-containing protein 68 isoform X4

    17. XM_011526204.4 → XP_011524506.1  coiled-coil domain-containing protein 68 isoform X4

      Conserved Domains (1) summary
      PRK12724
      Location:94 → 229
      PRK12724; flagellar biosynthesis regulator FlhF; Provisional

    18. XM_047437874.1 → XP_047293830.1  coiled-coil domain-containing protein 68 isoform X4

    19. XM_047437872.1 → XP_047293828.1  coiled-coil domain-containing protein 68 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      55104591..55162630 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319219.1 → XP_054175194.1  coiled-coil domain-containing protein 68 isoform X3

    2. XM_054319210.1 → XP_054175185.1  coiled-coil domain-containing protein 68 isoform X1

      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9

    3. XM_054319207.1 → XP_054175182.1  coiled-coil domain-containing protein 68 isoform X1

      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9

    4. XM_054319217.1 → XP_054175192.1  coiled-coil domain-containing protein 68 isoform X3

    5. XM_054319213.1 → XP_054175188.1  coiled-coil domain-containing protein 68 isoform X2

    6. XM_054319205.1 → XP_054175180.1  coiled-coil domain-containing protein 68 isoform X1

      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9

    7. XM_054319215.1 → XP_054175190.1  coiled-coil domain-containing protein 68 isoform X3

    8. XM_054319212.1 → XP_054175187.1  coiled-coil domain-containing protein 68 isoform X2

    9. XM_054319216.1 → XP_054175191.1  coiled-coil domain-containing protein 68 isoform X3

    10. XM_054319208.1 → XP_054175183.1  coiled-coil domain-containing protein 68 isoform X1

      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9

    11. XM_054319214.1 → XP_054175189.1  coiled-coil domain-containing protein 68 isoform X2

    12. XM_054319206.1 → XP_054175181.1  coiled-coil domain-containing protein 68 isoform X1

      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9

    13. XM_054319211.1 → XP_054175186.1  coiled-coil domain-containing protein 68 isoform X1

      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9

    14. XM_054319218.1 → XP_054175193.1  coiled-coil domain-containing protein 68 isoform X3

    15. XM_054319209.1 → XP_054175184.1  coiled-coil domain-containing protein 68 isoform X1

      UniProtKB/Swiss-Prot
      B2R9I3, Q9H2F9

    16. XM_054319222.1 → XP_054175197.1  coiled-coil domain-containing protein 68 isoform X4

    17. XM_054319220.1 → XP_054175195.1  coiled-coil domain-containing protein 68 isoform X4

    18. XM_054319223.1 → XP_054175198.1  coiled-coil domain-containing protein 68 isoform X4

    19. XM_054319221.1 → XP_054175196.1  coiled-coil domain-containing protein 68 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H2F9.1 GenPept UniProtKB/Swiss-Prot:Q9H2F9

    Gene LinkOut

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

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