CCDC68 Gene (Protein Coding)

Coiled-Coil Domain Containing 68

GC18M054901
GIFtS:
36
See more...

Aliases for CCDC68 Gene

Aliases for CCDC68 Gene

  • Coiled-Coil Domain Containing 68 2 3 5
  • Cutaneous T-Cell Lymphoma-Associated Antigen Se57-1 3 4
  • Cutaneous T-Cell Lymphoma Associated Antigen 2 3
  • Coiled-Coil Domain-Containing Protein 68 3 4
  • CTCL-Associated Antigen Se57-1 3 4
  • SE57-1 2 3
  • CTCL Tumor Antigen Se57-1 3
  • CCDC68 5

External Ids for CCDC68 Gene

Previous GeneCards Identifiers for CCDC68 Gene

  • GC18M050720
  • GC18M052568
  • GC18M049277

Summaries for CCDC68 Gene

GeneCards Summary for CCDC68 Gene

CCDC68 (Coiled-Coil Domain Containing 68) is a Protein Coding gene. Diseases associated with CCDC68 include Cutaneous T Cell Lymphoma and Pregnancy Loss, Recurrent 1. An important paralog of this gene is GCOM1.

UniProtKB/Swiss-Prot Summary for CCDC68 Gene

  • Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC120, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092).

Additional gene information for CCDC68 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC68 Gene

Genomics for CCDC68 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CCDC68 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH18J054957 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 264.3 -0.1 -138 5 FEZF1 BRCA1 KDM6A THAP11 FOXA2 SMAD4 SAP130 ZNF341 GABPB1 RARA CCDC68 POLI ENSG00000267311 lnc-CCDC68-3 TCF4
GH18J055000 Promoter 0.3 EPDnew 250.3 -41.4 -41353 0.1 CCDC68 HSALNG0121674 piR-50852-064 TCF4
GH18J054717 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 11 +241.4 241373 0.9 ZNF143 POLR2A RAD21 CTCF RUNX3 RAB27B CCDC68 lnc-DYNAP-36
GH18J054945 Enhancer 1 ENCODE 14.3 +12.3 12294 3.9 MXD4 CEBPA FOXA1 IKZF1 IRF2 MBD2 HOMEZ KDM6A THAP11 CEBPB CCDC68 POLI STARD6 HSALNG0121670 lnc-RAB27B-1 RAB27B
GH18J054827 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 5.8 +130.1 130057 3.5 FEZF1 IKZF1 ZNF217 SIX4 ELF1 ZIC2 CEBPB MAX ZNF341 GABPB1 RAB27B CCDC68 POLI piR-48325-079 HSALNG0121662
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC68 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC68

Top Transcription factor binding sites by QIAGEN in the CCDC68 gene promoter:
  • C/EBPalpha
  • Chx10
  • FOXL1
  • FOXO4
  • HNF-3beta
  • SRY

Genomic Locations for CCDC68 Gene

Latest Assembly
chr18:54,901,509-54,959,539
(GRCh38/hg38)
Size:
58,031 bases
Orientation:
Minus strand

Previous Assembly
chr18:52,568,740-52,626,692
(GRCh37/hg19 by Entrez Gene)
Size:
57,953 bases
Orientation:
Minus strand

chr18:52,568,740-52,626,739
(GRCh37/hg19 by Ensembl)
Size:
58,000 bases
Orientation:
Minus strand

Genomic View for CCDC68 Gene

Genes around CCDC68 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC68 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC68 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CCDC68 Gene

Proteins for CCDC68 Gene

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  • Protein details for CCDC68 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2F9-CCD68_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 68
    Protein Accession:
    Q9H2F9
    Secondary Accessions:
    • B2R9I3

    Protein attributes for CCDC68 Gene

    Size:
    335 amino acids
    Molecular mass:
    38869 Da
    Quaternary structure:
    • Interacts with CEP170 (PubMed:28422092).

neXtProt entry for CCDC68 Gene

Protein Expression for CCDC68 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CCDC68 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC68 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC68 Gene

Domains & Families for CCDC68 Gene

Gene Families for CCDC68 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC68 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC68 Gene

GenScript: Design optimal peptide antigens:
  • Cutaneous T-cell lymphoma-associated antigen se57-1 (CCD68_HUMAN)
genes like me logo Genes that share domains with CCDC68: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC68 Gene

Function for CCDC68 Gene

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  6. Cell Lines for research

Molecular function for CCDC68 Gene

UniProtKB/Swiss-Prot Function:
Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC120, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092).

Phenotypes From GWAS Catalog for CCDC68 Gene

Gene Ontology (GO) - Molecular Function for CCDC68 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CCDC68: view
genes like me logo Genes that share phenotypes with CCDC68: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC68

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC68 Gene

Localization for CCDC68 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC68 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localizes to the subdistal appendages of centrioles (PubMed:28422092). {ECO:0000269 PubMed:28422092}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC68 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 2
golgi apparatus 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC68 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005814 centriole IDA 28422092
GO:0005856 cytoskeleton IEA --
GO:0120103 centriolar subdistal appendage IDA 28422092
genes like me logo Genes that share ontologies with CCDC68: view

Pathways & Interactions for CCDC68 Gene

PathCards logo

SuperPathways for CCDC68 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC68 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008104 protein localization IMP 28422092
GO:0034454 microtubule anchoring at centrosome IMP 28422092
GO:0035556 intracellular signal transduction IBA 21873635
genes like me logo Genes that share ontologies with CCDC68: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC68 Gene

Drugs & Compounds for CCDC68 Gene

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No Compound Related Data Available

Transcripts for CCDC68 Gene

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mRNA/cDNA for CCDC68 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC68

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC68 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - -
SP2:
SP3:

Relevant External Links for CCDC68 Gene

GeneLoc Exon Structure for
CCDC68

Expression for CCDC68 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC68 Gene

mRNA expression in normal human tissues for CCDC68 Gene
mRNA expression by GTEx for CCDC68 GenemRNA expression by BioGPS for CCDC68 Gene

mRNA differential expression in normal tissues according to GTEx for CCDC68 Gene

This gene is overexpressed in Colon - Transverse (x4.3).

Protein differential expression in normal tissues from HIPED for CCDC68 Gene

This gene is overexpressed in Adipocyte (45.0) and Platelet (16.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC68 Gene



Protein tissue co-expression partners for CCDC68 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC68

SOURCE GeneReport for Unigene cluster for CCDC68 Gene:

Hs.120790

mRNA Expression by UniProt/SwissProt for CCDC68 Gene:

Q9H2F9-CCD68_HUMAN
Tissue specificity: Expressed in bone marrow, colon, small intestine, spleen, testis, trachea and cutaneous T-cell lymphoma (CTCL).
genes like me logo Genes that share expression patterns with CCDC68: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC68 Gene

Orthologs for CCDC68 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC68 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CCDC68 30 31
  • 99.8 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CCDC68 30 31
  • 87.36 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CCDC68 30 31
  • 86.17 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ccdc68 30 17 31
  • 78.58 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 69 (a)
 OneToMany
-- 31
  • 67 (a)
 OneToMany
-- 31
  • 51 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia CCDC68 31
  • 61 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CCDC68 31
  • 43 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ccdc68 30
  • 57.17 (n)
Species where no ortholog for CCDC68 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for CCDC68 Gene

ENSEMBL:
Gene Tree for CCDC68 (if available)
TreeFam:
Gene Tree for CCDC68 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC68: view image

Paralogs for CCDC68 Gene

Paralogs for CCDC68 Gene

(1) SIMAP similar genes for CCDC68 Gene using alignment to 2 proteins:

  • CCD68_HUMAN
  • K7EN04_HUMAN

Pseudogenes.org Pseudogenes for CCDC68 Gene

genes like me logo Genes that share paralogs with CCDC68: view

Variants for CCDC68 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC68 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
812695 Likely Pathogenic: Recurrent spontaneous abortion 54,919,284(-) C/CT
NM_025214.3(CCDC68):c.775dup (p.Ser259fs) 		FRAMESHIFT
rs34751112 - p.Val249Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCDC68 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CCDC68 Gene

Variant ID Type Subtype PubMed ID
nsv953549 CNV duplication 24416366

Variation tolerance for CCDC68 Gene

Residual Variation Intolerance Score: 67.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.76; 57.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC68 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC68

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC68 Gene

Disorders for CCDC68 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CCDC68 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
cutaneous t cell lymphoma
  • cutaneous t-cell lymphoma
pregnancy loss, recurrent 1
  • pregnancy loss, recurrent, susceptibility to, 1
lymphoma
  • lymphoid cancer
seckel syndrome 7
  • sckl7
orofaciodigital syndrome ix
  • ofd9
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC68

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CCDC68: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC68 Gene

Publications for CCDC68 Gene

  1. Tissue expression and sero-reactivity of tumor-specific antigens in colorectal cancer. (PMID: 15142679) Gerhardt A … Eichmüller S (Cancer letters 2004) 2 3 4
  2. Serological detection of cutaneous T-cell lymphoma-associated antigens. (PMID: 11149944) Eichmuller S … Schadendorf D (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4
  3. Hierarchical assembly of centriole subdistal appendages via centrosome binding proteins CCDC120 and CCDC68. (PMID: 28422092) Huang N … Chen J (Nature communications 2017) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

ExternalLinks

View latest publications for CCDC68 gene in Mastermind

Products for CCDC68 Gene

Sources for CCDC68 Gene