The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010] See more...

Aliases for CCDC170 Gene

Aliases for CCDC170 Gene

  • Coiled-Coil Domain Containing 170 2 3 5
  • Coiled-Coil Domain-Containing Protein 170 3 4
  • BA282P11.1 2 3
  • C6orf97 3 4
  • Chromosome 6 Open Reading Frame 97 2
  • FLJ23305 2
  • CCDC170 5

External Ids for CCDC170 Gene

Previous HGNC Symbols for CCDC170 Gene

  • C6orf97

Previous GeneCards Identifiers for CCDC170 Gene

  • GC06P151815

Summaries for CCDC170 Gene

Entrez Gene Summary for CCDC170 Gene

  • The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]

GeneCards Summary for CCDC170 Gene

CCDC170 (Coiled-Coil Domain Containing 170) is a Protein Coding gene. Diseases associated with CCDC170 include Van Maldergem Syndrome 2 and Van Maldergem Syndrome.

UniProtKB/Swiss-Prot Summary for CCDC170 Gene

  • Plays a role in Golgi-associated microtubules organization and stabilization.

Additional gene information for CCDC170 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC170 Gene

Genomics for CCDC170 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC170 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
GH06J151492 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 618.4 +0.1 140 2.5 HNRNPL GATAD2A KDM1A ZNF692 TARDBP FOXA1 ZIC2 ZSCAN4 RBFOX2 IRF2 CCDC170 RMND1 HSPA8P15 ZBTB2 ARMT1 ESR1 piR-46847-234
GH06J151495 Promoter 0.7 Ensembl 600.7 +1.7 1684 0.2 SOX13 ZNF512B FOXA2 KAT7 SAP130 NR2F6 FOXA3 CCDC170 piR-46847-234 ESR1
GH06J151668 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.7 +175.0 175021 1.9 CREB1 GATAD2A TFE3 SOX13 RCOR2 ZHX2 RXRB IRF2 BRD4 SP1 CCDC170 piR-43325-084 ESR1 lnc-ESR1-3 SYNE1
GH06J151666 Enhancer 0.7 FANTOM5 dbSUPER 11.9 +172.7 172697 0.2 ZNF512B ZNF444 ZNF592 ZNF207 GATAD2B NCOA3 ZNF687 SUZ12 ESRRA PPP1R10 CCDC170 HSPA8P15 ESR1 piR-43325-084 lnc-ESR1-3 SYNE1
GH06J151497 Enhancer 0.8 ENCODE 10.5 +4.2 4199 1.6 GATAD2A SOX13 RCOR2 CEBPA CEBPB TCF7 FOXA2 YY1 GABPA EP300 RMND1 RNU6-813P CCDC170 piR-46847-234 ESR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC170 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC170

Genomic Locations for CCDC170 Gene

Genomic Locations for CCDC170 Gene
chr6:151,494,017-151,621,193
(GRCh38/hg38)
Size:
127,177 bases
Orientation:
Plus strand
chr6:151,815,165-151,942,328
(GRCh37/hg19)
Size:
127,164 bases
Orientation:
Plus strand

Genomic View for CCDC170 Gene

Genes around CCDC170 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC170 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC170 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC170 Gene

Proteins for CCDC170 Gene

  • Protein details for CCDC170 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYT3-CC170_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 170
    Protein Accession:
    Q8IYT3
    Secondary Accessions:
    • Q5VXB7
    • Q6P9E4
    • Q96KA9
    • Q9H5M3

    Protein attributes for CCDC170 Gene

    Size:
    715 amino acids
    Molecular mass:
    82277 Da
    Quaternary structure:
    • Binds Golgi-associated microtubules.
    SequenceCaution:
    • Sequence=BAB55025.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for CCDC170 Gene

Post-translational modifications for CCDC170 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC170 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC170 Gene

Domains & Families for CCDC170 Gene

Gene Families for CCDC170 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC170 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC170 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein C6orf97 (CF097_HUMAN)
genes like me logo Genes that share domains with CCDC170: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC170 Gene

Function for CCDC170 Gene

Molecular function for CCDC170 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in Golgi-associated microtubules organization and stabilization.

Phenotypes From GWAS Catalog for CCDC170 Gene

Gene Ontology (GO) - Molecular Function for CCDC170 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008017 microtubule binding IDA 28687497
genes like me logo Genes that share ontologies with CCDC170: view
genes like me logo Genes that share phenotypes with CCDC170: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC170

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC170 Gene

Localization for CCDC170 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC170 Gene

Golgi apparatus.

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 CCDC170 gene
Compartment Confidence
nucleus 3
golgi apparatus 3
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for CCDC170 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 28687497
genes like me logo Genes that share ontologies with CCDC170: view

Pathways & Interactions for CCDC170 Gene

PathCards logo

SuperPathways for CCDC170 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC170 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IDA 28687497
genes like me logo Genes that share ontologies with CCDC170: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC170 Gene

Drugs & Compounds for CCDC170 Gene

No Compound Related Data Available

Transcripts for CCDC170 Gene

mRNA/cDNA for CCDC170 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC170

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC170 Gene

No ASD Table

Relevant External Links for CCDC170 Gene

GeneLoc Exon Structure for
CCDC170

Expression for CCDC170 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC170 Gene

mRNA differential expression in normal tissues according to GTEx for CCDC170 Gene

This gene is overexpressed in Ovary (x5.3) and Adrenal Gland (x4.2).

Protein differential expression in normal tissues from HIPED for CCDC170 Gene

This gene is overexpressed in Nasal epithelium (68.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC170 Gene



Protein tissue co-expression partners for CCDC170 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC170

SOURCE GeneReport for Unigene cluster for CCDC170 Gene:

Hs.660044
genes like me logo Genes that share expression patterns with CCDC170: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC170 Gene

Orthologs for CCDC170 Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC170 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC170 30 31
  • 99.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC170 30 31
  • 87.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC170 30 31
  • 86.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc170 30
  • 79.15 (n)
Mouse
(Mus musculus)
Mammalia Ccdc170 30 17 31
  • 78 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC170 31
  • 69 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CCDC170 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C6ORF97 30
  • 64.44 (n)
CCDC170 31
  • 52 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC170 31
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc170 30
  • 65.25 (n)
Zebrafish
(Danio rerio)
Actinopterygii ccdc170 30 31
  • 52.37 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007734 30
  • 42.06 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG43338 30 31
  • 40.13 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToOne
Species where no ortholog for CCDC170 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for CCDC170 Gene

ENSEMBL:
Gene Tree for CCDC170 (if available)
TreeFam:
Gene Tree for CCDC170 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC170: view image

Paralogs for CCDC170 Gene

No data available for Paralogs for CCDC170 Gene

Variants for CCDC170 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC170 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
710997 Benign: not provided 151,585,974(+) G/A MISSENSE_VARIANT
768116 Benign: not provided 151,593,250(+) C/A MISSENSE_VARIANT
792060 Benign: not provided 151,615,576(+) C/A MISSENSE_VARIANT
rs12662670 Uncertain Significance: Estrogen resistance 151,597,721(+) T/G INTRON_VARIANT
rs12665607 Uncertain Significance: Estrogen resistance 151,625,494(+) T/A

Additional dbSNP identifiers (rs#s) for CCDC170 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC170 Gene

Variant ID Type Subtype PubMed ID
esv1005109 CNV insertion 20482838
esv2575520 CNV deletion 19546169
esv2732901 CNV deletion 23290073
esv2732902 CNV deletion 23290073
esv2732903 CNV deletion 23290073
esv2761004 CNV gain+loss 21179565
esv28786 CNV loss 19812545
esv3576236 CNV gain 25503493
esv3611268 CNV loss 21293372
esv3611269 CNV loss 21293372
esv3611270 CNV gain 21293372
nsv1016522 CNV gain 25217958
nsv1117674 CNV deletion 24896259
nsv516304 CNV loss 19592680
nsv523861 CNV loss 19592680
nsv604889 CNV loss 21841781

Variation tolerance for CCDC170 Gene

Residual Variation Intolerance Score: 98.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.66; 93.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC170 Gene

Human Gene Mutation Database (HGMD)
CCDC170
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC170

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC170 Gene

Disorders for CCDC170 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CCDC170 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
van maldergem syndrome 2
  • vmlds2
van maldergem syndrome
  • cerebrofacioarticular syndrome
breast cancer
  • breast lobular carcinoma
osteoporosis
  • bone mineral density quantitative trait locus; bmnd
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CCDC170: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC170 Gene

Publications for CCDC170 Gene

  1. The Protein Encoded by the CCDC170 Breast Cancer Gene Functions to Organize the Golgi-Microtubule Network. (PMID: 28687497) Jiang P … Chen X (EBioMedicine 2017) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for CCDC170 Gene

Sources for CCDC170 Gene