This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] See more...

Aliases for CCDC107 Gene

Aliases for CCDC107 Gene

  • Coiled-Coil Domain Containing 107 2 3 5
  • Coiled-Coil Domain-Containing Protein 107 3 4
  • PSEC0222 3

External Ids for CCDC107 Gene

Previous GeneCards Identifiers for CCDC107 Gene

  • GC09P035649
  • GC09P035613

Summaries for CCDC107 Gene

Entrez Gene Summary for CCDC107 Gene

  • This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

GeneCards Summary for CCDC107 Gene

CCDC107 (Coiled-Coil Domain Containing 107) is a Protein Coding gene. Diseases associated with CCDC107 include Brachydactyly, Type D.

Additional gene information for CCDC107 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC107 Gene

Genomics for CCDC107 Gene

GeneHancer (GH) Regulatory Elements for CCDC107 Gene

Promoters and enhancers for CCDC107 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC107 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC107

Top Transcription factor binding sites by QIAGEN in the CCDC107 gene promoter:
  • IRF-2
  • ITF-2
  • LCR-F1
  • Lmo2
  • p300
  • Sp1
  • Tal-1beta

Genomic Locations for CCDC107 Gene

Genomic Locations for CCDC107 Gene
chr9:35,658,282-35,661,511
(GRCh38/hg38)
Size:
3,230 bases
Orientation:
Plus strand
chr9:35,658,287-35,661,508
(GRCh37/hg19)
Size:
3,222 bases
Orientation:
Plus strand

Genomic View for CCDC107 Gene

Genes around CCDC107 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC107 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC107 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC107 Gene

Proteins for CCDC107 Gene

  • Protein details for CCDC107 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WV48-CC107_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 107
    Protein Accession:
    Q8WV48
    Secondary Accessions:
    • A6XND6
    • Q5T4R5
    • Q5T4R8
    • Q5T4R9
    • Q86VB6
    • Q8N2E4

    Protein attributes for CCDC107 Gene

    Size:
    283 amino acids
    Molecular mass:
    30509 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CCDC107 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC107 Gene

Post-translational modifications for CCDC107 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC107 Gene

Domains & Families for CCDC107 Gene

Gene Families for CCDC107 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CCDC107 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC107 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 107 (CC107_HUMAN)
genes like me logo Genes that share domains with CCDC107: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC107 Gene

Function for CCDC107 Gene

Phenotypes From GWAS Catalog for CCDC107 Gene

genes like me logo Genes that share phenotypes with CCDC107: view

Animal Model Products

CRISPR Products

miRNA for CCDC107 Gene

miRTarBase miRNAs that target CCDC107

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC107 Gene

Localization for CCDC107 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC107 Gene

Membrane; Single-pass membrane protein.

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 CCDC107 gene
Compartment Confidence
plasma membrane 2
nucleus 2
cytosol 2
extracellular 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CCDC107: view

Pathways & Interactions for CCDC107 Gene

PathCards logo

SuperPathways for CCDC107 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC107 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC107 Gene

Drugs & Compounds for CCDC107 Gene

No Compound Related Data Available

Transcripts for CCDC107 Gene

mRNA/cDNA for CCDC107 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC107 Gene

No ASD Table

Relevant External Links for CCDC107 Gene

GeneLoc Exon Structure for
CCDC107

Expression for CCDC107 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC107 Gene

Protein differential expression in normal tissues from HIPED for CCDC107 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC107 Gene



Protein tissue co-expression partners for CCDC107 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC107

SOURCE GeneReport for Unigene cluster for CCDC107 Gene:

Hs.745107

Evidence on tissue expression from TISSUES for CCDC107 Gene

  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with CCDC107: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC107 Gene

Orthologs for CCDC107 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CCDC107 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC107 31 30
  • 98.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC107 31 30
  • 85.19 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC107 31 30
  • 81.7 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc107 30
  • 76.98 (n)
mouse
(Mus musculus)
Mammalia Ccdc107 17 31 30
  • 76.68 (n)
Species where no ortholog for CCDC107 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CCDC107 Gene

ENSEMBL:
Gene Tree for CCDC107 (if available)
TreeFam:
Gene Tree for CCDC107 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC107: view image

Paralogs for CCDC107 Gene

Pseudogenes.org Pseudogenes for CCDC107 Gene

genes like me logo Genes that share paralogs with CCDC107: view

No data available for Paralogs for CCDC107 Gene

Variants for CCDC107 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC107 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs10441685 - p.Ser242Cys
rs1339374 - p.Ile220Val
rs2275420 - p.Ser190Phe

Additional dbSNP identifiers (rs#s) for CCDC107 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC107 Gene

Variant ID Type Subtype PubMed ID
nsv1125318 OTHER inversion 24896259

Variation tolerance for CCDC107 Gene

Residual Variation Intolerance Score: 84.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.44; 71.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC107 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC107

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC107 Gene

Disorders for CCDC107 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC107 Gene - From: DISEASES

Disorder Aliases PubMed IDs
brachydactyly, type d
  • bdd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC107

genes like me logo Genes that share disorders with CCDC107: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC107 Gene

Publications for CCDC107 Gene

  1. 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 54
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 54
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 54
  4. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. (PMID: 29845934) Faust TB … Frankel AD (eLife 2018) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for CCDC107 Gene

Sources for CCDC107 Gene