Aliases for CCDC85C Gene

Aliases for CCDC85C Gene

  • Coiled-Coil Domain Containing 85C 2 3 5
  • Coiled-Coil Domain-Containing Protein 85C 3 4

External Ids for CCDC85C Gene

Previous GeneCards Identifiers for CCDC85C Gene

  • GC14M099052
  • GC14M099978
  • GC14M080161

Summaries for CCDC85C Gene

GeneCards Summary for CCDC85C Gene

CCDC85C (Coiled-Coil Domain Containing 85C) is a Protein Coding gene. Diseases associated with CCDC85C include Congenital Disorder Of Glycosylation, Type Iic and Obstructive Hydrocephalus. An important paralog of this gene is CCDC85A.

UniProtKB/Swiss-Prot Summary for CCDC85C Gene

  • May play a role in cell-cell adhesion and epithelium development through its interaction with proteins of the beta-catenin family (Probable). May play an important role in cortical development, especially in the maintenance of radial glia (By similarity).

Additional gene information for CCDC85C Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC85C Gene

Genomics for CCDC85C Gene

GeneHancer (GH) Regulatory Elements for CCDC85C Gene

Promoters and enhancers for CCDC85C 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 CCDC85C on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC85C

Top Transcription factor binding sites by QIAGEN in the CCDC85C gene promoter:
  • c-Myc
  • Egr-4
  • FOXO1
  • FOXO1a
  • GATA-1
  • Max
  • Nkx2-5
  • YY1

Genomic Locations for CCDC85C Gene

Genomic Locations for CCDC85C Gene
chr14:99,500,190-99,604,390
(GRCh38/hg38)
Size:
104,201 bases
Orientation:
Minus strand
chr14:99,977,603-100,070,727
(GRCh37/hg19)
Size:
93,125 bases
Orientation:
Minus strand

Genomic View for CCDC85C Gene

Genes around CCDC85C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC85C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC85C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC85C Gene

Proteins for CCDC85C Gene

  • Protein details for CCDC85C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NKD9-CC85C_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 85C
    Protein Accession:
    A6NKD9

    Protein attributes for CCDC85C Gene

    Size:
    419 amino acids
    Molecular mass:
    45210 Da
    Quaternary structure:
    • May interact with ARVCF, CTNND1, CTNND2 and PKP4.

neXtProt entry for CCDC85C Gene

Post-translational modifications for CCDC85C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC85C Gene

Domains & Families for CCDC85C Gene

Gene Families for CCDC85C Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC85C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC85C Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 85C (CC85C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6NKD9

UniProtKB/Swiss-Prot:

CC85C_HUMAN :
  • Belongs to the CCDC85 family.
Family:
  • Belongs to the CCDC85 family.
genes like me logo Genes that share domains with CCDC85C: view

Function for CCDC85C Gene

Molecular function for CCDC85C Gene

UniProtKB/Swiss-Prot Function:
May play a role in cell-cell adhesion and epithelium development through its interaction with proteins of the beta-catenin family (Probable). May play an important role in cortical development, especially in the maintenance of radial glia (By similarity).

Phenotypes From GWAS Catalog for CCDC85C Gene

Phenotypes for CCDC85C Gene

genes like me logo Genes that share phenotypes with CCDC85C: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC85C Gene

Localization for CCDC85C Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC85C Gene

Cell junction, tight junction. Cell junction, adherens junction. Note=Localizes to the apical junction of radial glia in the wall of lateral ventricles of the developing brain. Colocalizes with TJP1 on the meshwork-like structure of adherens junctions on the lateral ventricles wall. {ECO:0000250 UniProtKB:E9Q6B2}.

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 CCDC85C gene
Compartment Confidence
nucleus 3
cytosol 2
plasma membrane 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC85C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005923 bicellular tight junction IEA --
GO:0030054 cell junction IEA --
GO:0043296 apical junction complex IEA,ISS --
genes like me logo Genes that share ontologies with CCDC85C: view

Pathways & Interactions for CCDC85C Gene

PathCards logo

SuperPathways for CCDC85C Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC85C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0021987 cerebral cortex development IEA,ISS --
genes like me logo Genes that share ontologies with CCDC85C: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC85C Gene

Drugs & Compounds for CCDC85C Gene

No Compound Related Data Available

Transcripts for CCDC85C Gene

mRNA/cDNA for CCDC85C Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 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 CCDC85C Gene

No ASD Table

Relevant External Links for CCDC85C Gene

GeneLoc Exon Structure for
CCDC85C

Expression for CCDC85C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC85C Gene

Protein differential expression in normal tissues from HIPED for CCDC85C Gene

This gene is overexpressed in Retina (41.2), Testis (8.9), and Fetal Brain (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC85C Gene



Protein tissue co-expression partners for CCDC85C Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC85C

SOURCE GeneReport for Unigene cluster for CCDC85C Gene:

Hs.709288

Evidence on tissue expression from TISSUES for CCDC85C Gene

  • Liver(4.1)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with CCDC85C: 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 CCDC85C Gene

Orthologs for CCDC85C Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC85C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC85C 31 30
  • 99.82 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc85c 30
  • 90.57 (n)
mouse
(Mus musculus)
Mammalia Ccdc85c 17 31 30
  • 90.45 (n)
cow
(Bos Taurus)
Mammalia CCDC85C 31 30
  • 90.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC85C 31
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC85C 31
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC85C 31
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC85C 31 30
  • 74.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC85C 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc85c 30
  • 66.05 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc85ca 31 30
  • 64.91 (n)
OneToMany
ccdc85cb 31
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17265 31 30
  • 52.23 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F29G9.2 31
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4851 31
  • 43 (a)
OneToMany
Species where no ortholog for CCDC85C 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for CCDC85C Gene

ENSEMBL:
Gene Tree for CCDC85C (if available)
TreeFam:
Gene Tree for CCDC85C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC85C: view image

Paralogs for CCDC85C Gene

Paralogs for CCDC85C Gene

(2) SIMAP similar genes for CCDC85C Gene using alignment to 6 proteins:

  • CC85C_HUMAN
  • G3V2D7_HUMAN
  • G3V4C8_HUMAN
  • G3V5D5_HUMAN
  • H0YJE0_HUMAN
  • H0YJY5_HUMAN
genes like me logo Genes that share paralogs with CCDC85C: view

Variants for CCDC85C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC85C Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs746815273 Likely Benign: not specified 99,510,485(-) G/C SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
rs759190666 Likely Benign: not specified 99,510,569(-) A/C SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
rs776290356 Likely Benign: not specified 99,510,563(-) A/C SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for CCDC85C Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC85C Gene

Variant ID Type Subtype PubMed ID
dgv3885n54 CNV loss 21841781
dgv3886n54 CNV loss 21841781
dgv3887n54 CNV loss 21841781
dgv3888n54 CNV loss 21841781
dgv3889n54 CNV gain+loss 21841781
dgv3890n54 CNV gain 21841781
dgv3891n54 CNV loss 21841781
dgv3892n54 CNV loss 21841781
dgv3893n54 CNV loss 21841781
dgv420e214 CNV loss 21293372
esv2227205 CNV deletion 18987734
esv23792 CNV loss 19812545
esv2749100 CNV deletion 23290073
esv2749101 CNV deletion 23290073
esv3635481 CNV gain 21293372
esv3635485 CNV gain 21293372
nsv1071167 CNV deletion 25765185
nsv1135811 CNV deletion 24896259
nsv1141598 CNV deletion 24896259
nsv1150217 CNV insertion 26484159
nsv1151800 CNV deletion 26484159
nsv456422 CNV loss 19166990
nsv456423 CNV loss 19166990
nsv565732 CNV loss 21841781
nsv565733 CNV gain 21841781
nsv565734 CNV loss 21841781
nsv565735 CNV loss 21841781
nsv565740 CNV loss 21841781
nsv565741 CNV gain 21841781
nsv565747 CNV gain+loss 21841781
nsv565755 CNV loss 21841781
nsv565762 CNV gain 21841781
nsv827050 CNV gain 20364138
nsv827051 CNV gain 20364138
nsv85788 CNV deletion 16902084
nsv952236 CNV deletion 24416366

Variation tolerance for CCDC85C Gene

Gene Damage Index Score: 4.60; 65.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC85C Gene

Human Gene Mutation Database (HGMD)
CCDC85C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC85C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC85C Gene

Disorders for CCDC85C Gene

MalaCards: The human disease database

(4) MalaCards diseases for CCDC85C Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iic
  • rhs
obstructive hydrocephalus
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive
leukocyte adhesion deficiency, type iii
  • lad3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC85C

genes like me logo Genes that share disorders with CCDC85C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC85C Gene

Publications for CCDC85C Gene

  1. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R … Weissenbach J (Nature 2003) 3 4 54
  2. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. The human cytoplasmic dynein interactome reveals novel activators of motility. (PMID: 28718761) Redwine WB … Reck-Peterson SL (eLife 2017) 3 54
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 54

Products for CCDC85C Gene

Sources for CCDC85C Gene