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

Gene ID: 80323, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in placenta (RPKM 6.2), small intestine (RPKM 5.9) and 20 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (54901509..54959461, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (55104591..55162630, complement)
105.20220307 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
  • 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. 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
  2. Tissue expression and sero-reactivity of tumor-specific antigens in colorectal cancer. Gerhardt A, et al. Cancer Lett, 2004 May 28. PMID 15142679
  3. CCDC68 Upregulation by IL-6 Promotes Endometrial Carcinoma Progression. Li X, et al. J Interferon Cytokine Res, 2021 Jan. PMID 33471616
  4. 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
  5. Serological detection of cutaneous T-cell lymphoma-associated antigens. Eichmuller S, et al. Proc Natl Acad Sci U S A, 2001 Jan 16. PMID 11149944, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CCDC68 Upregulation by IL-6 Promotes Endometrial Carcinoma Progression.
    Title: CCDC68 Upregulation by IL-6 Promotes Endometrial Carcinoma Progression.
  2. 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.
  3. 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 intracellular signal transduction 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 
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in intracellular anatomical structure IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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

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