Aliases for CCDC27 Gene

Aliases for CCDC27 Gene

  • Coiled-Coil Domain Containing 27 2 3 5
  • Coiled-Coil Domain-Containing Protein 27 3 4

External Ids for CCDC27 Gene

Previous GeneCards Identifiers for CCDC27 Gene

  • GC01P003693
  • GC01P003658
  • GC01P002964
  • GC01P003668
  • GC01P003752

Summaries for CCDC27 Gene

GeneCards Summary for CCDC27 Gene

CCDC27 (Coiled-Coil Domain Containing 27) is a Protein Coding gene. Diseases associated with CCDC27 include Usher Syndrome, Type Iic and Usher Syndrome Type 2. An important paralog of this gene is FHAD1.

Additional gene information for CCDC27 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC27 Gene

Genomics for CCDC27 Gene

GeneHancer (GH) Regulatory Elements for CCDC27 Gene

Promoters and enhancers for CCDC27 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
GH01J003746 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 500.7 +0.6 641 2.6 HNRNPK ZBTB40 NRF1 POLR2G POLR2A ZBTB11 GABPA ZBTB26 TOE1 CTBP1 TP73-AS1 CCDC27 piR-31462-002 piR-38429-002 piR-45349-002 piR-36100-001 WRAP73 ENSG00000272153 C1orf174 DFFB
GH01J003752 Promoter 0.3 EPDnew 500.4 +6.0 5971 0.1 CCDC27 piR-38429-002 SMIM1
GH01J003763 Enhancer 0.3 Ensembl 5.5 +16.0 16041 0.2 EGR2 CCDC27 SMIM1 piR-38429-002
GH01J003771 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 0.3 +27.8 27778 5.3 HNRNPK CTCF MYC POLR2G USF1 NCOR1 PHF8 PHB2 ZNF10 ZIC2 SMIM1 CEP104 ENSG00000272153 TP73-AS1 WRAP73 C1orf174 LRRC47 RN7SL574P RF00017-010 lnc-SMIM1-1
GH01J003762 Enhancer 0.3 Ensembl 0.4 +14.7 14741 0.4 EZH2 CCDC27 SMIM1 piR-38429-002
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC27 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC27

Top Transcription factor binding sites by QIAGEN in the CCDC27 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • En-1
  • GATA-1
  • NCX
  • NF-Y
  • NF-YA
  • TGIF

Genomic Locations for CCDC27 Gene

Genomic Locations for CCDC27 Gene
chr1:3,746,460-3,771,645
(GRCh38/hg38)
Size:
25,186 bases
Orientation:
Plus strand
chr1:3,668,962-3,688,209
(GRCh37/hg19)
Size:
19,248 bases
Orientation:
Plus strand

Genomic View for CCDC27 Gene

Genes around CCDC27 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC27 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC27 Gene

Proteins for CCDC27 Gene

  • Protein details for CCDC27 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M243-CCD27_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 27
    Protein Accession:
    Q2M243
    Secondary Accessions:
    • Q5TBV3
    • Q96M50

    Protein attributes for CCDC27 Gene

    Size:
    656 amino acids
    Molecular mass:
    75354 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CCDC27 Gene

Post-translational modifications for CCDC27 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC27 Gene

No data available for DME Specific Peptides for CCDC27 Gene

Domains & Families for CCDC27 Gene

Gene Families for CCDC27 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC27 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CCDC27 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 27 (CCD27_HUMAN)
genes like me logo Genes that share domains with CCDC27: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC27 Gene

Function for CCDC27 Gene

Phenotypes From GWAS Catalog for CCDC27 Gene

genes like me logo Genes that share phenotypes with CCDC27: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CCDC27 Gene

Localization for CCDC27 Gene

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 CCDC27 gene
Compartment Confidence
nucleus 2
cytosol 2
cytoskeleton 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for CCDC27 Gene

Pathways & Interactions for CCDC27 Gene

PathCards logo

SuperPathways for CCDC27 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC27 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC27 Gene

Drugs & Compounds for CCDC27 Gene

No Compound Related Data Available

Transcripts for CCDC27 Gene

mRNA/cDNA for CCDC27 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 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 CCDC27 Gene

No ASD Table

Relevant External Links for CCDC27 Gene

GeneLoc Exon Structure for
CCDC27

Expression for CCDC27 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC27 Gene

mRNA differential expression in normal tissues according to GTEx for CCDC27 Gene

This gene is overexpressed in Testis (x49.4).

Protein differential expression in normal tissues from HIPED for CCDC27 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (48.9) and Heart (20.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC27 Gene



Protein tissue co-expression partners for CCDC27 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC27

SOURCE GeneReport for Unigene cluster for CCDC27 Gene:

Hs.348700
genes like me logo Genes that share expression patterns with CCDC27: view

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 CCDC27 Gene

Orthologs for CCDC27 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC27 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC27 31 30
  • 94.39 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC27 31 30
  • 74.48 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc27 17 31 30
  • 73.75 (n)
dog
(Canis familiaris)
Mammalia CCDC27 31 30
  • 71.84 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc27 30
  • 67.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC27 31
  • 53 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC27 31
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC27 31
  • 34 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC27 31
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
OneToOne
Species where no ortholog for CCDC27 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 CCDC27 Gene

ENSEMBL:
Gene Tree for CCDC27 (if available)
TreeFam:
Gene Tree for CCDC27 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC27: view image

Paralogs for CCDC27 Gene

Paralogs for CCDC27 Gene

genes like me logo Genes that share paralogs with CCDC27: view

Variants for CCDC27 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC27 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
788937 Benign: not provided 3,752,792(+) G/A MISSENSE_VARIANT
rs10910021 - p.Gln54Glu
rs10910024 - p.Thr353Met
rs11806371 - p.Pro390Leu
rs1181883 - p.Met267Thr

Additional dbSNP identifiers (rs#s) for CCDC27 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC27 Gene

Variant ID Type Subtype PubMed ID
dgv13n100 CNV gain 25217958
esv2659590 CNV deletion 23128226
esv3585042 CNV gain 21293372
esv3585047 CNV loss 21293372
esv3585048 CNV gain 21293372
nsv1001715 CNV loss 25217958
nsv1012423 CNV gain 25217958
nsv460061 CNV loss 19166990
nsv470687 CNV loss 18288195
nsv545129 CNV loss 21841781
nsv830314 CNV gain+loss 17160897
nsv830425 CNV gain 17160897
nsv951959 CNV deletion 24416366

Variation tolerance for CCDC27 Gene

Residual Variation Intolerance Score: 96.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.96; 74.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC27 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC27

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC27 Gene

Disorders for CCDC27 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCDC27 Gene - From: DISEASES

Disorder Aliases PubMed IDs
usher syndrome, type iic
  • ush2c
usher syndrome type 2
  • ush2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC27

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CCDC27: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC27 Gene

Publications for CCDC27 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density. (PMID: 18597038) Zhang H … Devoto M (Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2009) 3 41 54
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  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 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for CCDC27 Gene

Sources for CCDC27 Gene