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Aliases for CCDC68 Gene
Aliases for CCDC68 Gene
External Ids for CCDC68 Gene
- HGNC: 24350
- Entrez Gene: 80323
- Ensembl: ENSG00000166510
- OMIM: 616909
- UniProtKB: Q9H2F9
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 Lymphoma. 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
- HGNC(24350)
- Entrez Gene(80323)
- Ensembl(ENSG00000166510)
- OMIM(616909)
- UniProtKB(Q9H2F9)
- Open Targets Platform(ENSG00000166510)
- Search for CCDC68 at DataMed
- Search for CCDC68 at HumanCyc
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
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 | 614.4 | -0.1 | -138 | 5 | CREB1 ATF7 ZNF629 RBFOX2 IKZF2 SP1 ZNF341 ZNF561 SOX13 ZBTB20 | CCDC68 POLI ENSG00000267311 lnc-CCDC68-3 TCF4 | |
| GH18J055000 | Promoter | 0.3 | EPDnew | 600.3 | -41.4 | -41353 | 0.1 | CCDC68 piR-50852-064 RF00017-2686 TCF4 | ||
| GH18J054717 | Promoter/Enhancer | 1.3 | EPDnew Ensembl ENCODE dbSUPER | 11 | +241.5 | 241467 | 0.9 | ZNF143 POLR2A RAD21 RUNX3 CTCF | RAB27B CCDC68 lnc-DYNAP-36 | |
| GH18J054945 | Enhancer | 1 | ENCODE | 14.3 | +12.3 | 12294 | 3.9 | GATAD2A TFE3 LEF1 SOX13 IKZF1 NFKBIZ RCOR2 FOXA1 RXRB NR2C1 | CCDC68 STARD6 MAP1LC3P lnc-RAB27B-1 lnc-TCF4-6 RAB27B | |
| GH18J054827 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas | 5.8 | +130.1 | 130057 | 3.5 | HNRNPL PRDM10 IKZF1 ZNF692 FOXA1 PRDM1 ZIC2 ZSCAN4 PATZ1 ZNF501 | RAB27B CCDC68 POLI piR-48325-079 lnc-DYNAP-2 |
- 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
Genomic Locations for CCDC68 Gene
- chr18:54,901,509-54,959,539
- (GRCh38/hg38)
- Size:
- 58,031 bases
- Orientation:
- Minus strand
- chr18:52,568,740-52,626,739
- (GRCh37/hg19)
- 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:
-
- 18q21.2 by HGNC
- 18q21.2 by Entrez Gene
- 18q21.2 by Ensembl
CCDC68 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CCDC68 Gene
Proteins for CCDC68 Gene
-
Protein details for CCDC68 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H2F9-CCD68_HUMAN
- Recommended name:
- Coiled-coil domain-containing protein 68
- Protein Accession:
- Q9H2F9
- B2R9I3
Protein attributes for CCDC68 Gene
- Size:
- 335 amino acids
- Molecular mass:
- 38869 Da
- Quaternary structure:
-
- Interacts with CEP170 (PubMed:28422092).
Protein Expression for CCDC68 Gene
Post-translational modifications for CCDC68 Gene
Other Protein References for CCDC68 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CCDC68
- Novus Biologicals Antibodies for CCDC68
- Invitrogen Antibodies for CCDC68 (AFLGC-CCDC68)
- antibodies-online: Show 4 available CCDC68 Antibodies ranked by validation data
-
Biorbyt antibodies for CCDC68
Protein Products
-
OriGene Purified Proteins for CCDC68
- Search Origene for MassSpec and Protein Over-expression Lysates for CCDC68
- Origene Custom Protein Services for CCDC68
-
Abcam proteins for CCDC68
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
Suggested Antigen Peptide Sequences for CCDC68 Gene
- GenScript: Design optimal peptide antigens:
-
- Cutaneous T-cell lymphoma-associated antigen se57-1 (CCD68_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC68 Gene
Function for CCDC68 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for CCDC68 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CCDC68 - Select products 50% OFF >
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-
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-
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miRNA for CCDC68 Gene
- miRTarBase miRNAs that target CCDC68
miRNA Products
Inhibitory RNA Products
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- MG203001
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CCDC68
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Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 4 |
| nucleus | 3 |
| cytosol | 2 |
| golgi apparatus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (2)
- Golgi apparatus (2)
| 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 |
Pathways & Interactions for CCDC68 Gene
Interacting Proteins for CCDC68 Gene
Selected Interacting proteins:
Q9H2F9-CCD68_HUMAN
ENSP00000466690
for CCDC68 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CCDC68
| 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 |
No data available for Pathways by source and SIGNOR curated interactions for CCDC68 Gene
Transcripts for CCDC68 Gene
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 :
-
- ENST00000591504 4085 nts (view in UCSC)
- ENST00000592040 708 nts (view in UCSC)
- ENST00000337363 1457 nts (view in UCSC)
- ENST00000592294 581 nts (view in UCSC)
- ENST00000587148 1081 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CCDC68 - Select products 50% OFF >
- * CCDC68 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CCDC68
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CCDC68
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC68
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CCDC68
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Clone Products
- Applied Biological Materials (abm): Clones for CCDC68 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG203001
- MG220037
- MR203001
- MR203001L3
- MR203001L4
- MR220037
- MR220037L3
- MR220037L4
- RC206244
- RC206244L3
- RC206244L4
- RC227185
- RC227185L3
- RC227185L4
- RG206244
- RG227185
- RR210561
- RR210561L3
- RR210561L4
- MR203001L3V
- MR203001L4V
- MR220037L3V
- MR220037L4V
- RC206244L3V
- RC206244L4V
- RC227185L3V
- RC227185L4V
- RR210561L3V
- RR210561L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CCDC68
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CCDC68
| 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
mRNA differential expression in normal tissues according to GTEx for CCDC68 Gene
This gene is overexpressed in Colon - Transverse (x4.3).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC68
SOURCE GeneReport for Unigene cluster for CCDC68 Gene:
Hs.120790mRNA 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).
Evidence on tissue expression from TISSUES for CCDC68 Gene
- Intestine(2.1)
Primer Products
-
OriGene qPCR primer pairs for CCDC68
-
OriGene qPCR primer pairs and template standards for CCDC68
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CCDC68 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CCDC68 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CCDC68 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ccdc68 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Oppossum (Monodelphis domestica) |
Mammalia | CCDC68 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CCDC68 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ccdc68 30 |
|
- 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
Variants for CCDC68 Gene
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 |
|---|---|---|---|---|---|
| rs34751112 | - | p.Val249Ala |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC68 Gene
Disorders for CCDC68 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cutaneous t cell lymphoma |
|
|
| lymphoma |
|
|
| seckel syndrome 7 |
|
|
| orofaciodigital syndrome ix |
|
|
| cone-rod dystrophy 20 |
|
|
Search CCDC68 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CCDC68
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC68 Gene
Publications for CCDC68 Gene
- Tissue expression and sero-reactivity of tumor-specific antigens in colorectal cancer. (PMID: 15142679) Gerhardt A … Eichmüller S (Cancer letters 2004) 2 3 4
- 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
- Hierarchical assembly of centriole subdistal appendages via centrosome binding proteins CCDC120 and CCDC68. (PMID: 28422092) Huang N … Chen J (Nature communications 2017) 3 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
- A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
ExternalLinks
Products for CCDC68 Gene
- Custom Antibody ServicesOriGene Antibodies for CCDC68
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- OriGene Purified Proteins for CCDC68
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- OriGene qPCR primer pairs for CCDC68
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- MG203001
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Invitrogen Antibodies for CCDC68 (AFLGC-CCDC68)
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- antibodies-online: Show 4 available CCDC68 Antibodies ranked by validation data
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC68
- Biorbyt antibodies for CCDC68
Sources for CCDC68 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
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