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Aliases for CCDC85A Gene

Aliases for CCDC85A Gene

  • Coiled-Coil Domain Containing 85A 2 3 5
  • KIAA1912 4

External Ids for CCDC85A Gene

Previous GeneCards Identifiers for CCDC85A Gene

  • GC02P056264
  • GC02P056411
  • GC02P056146

Summaries for CCDC85A Gene

GeneCards Summary for CCDC85A Gene

CCDC85A (Coiled-Coil Domain Containing 85A) is a Protein Coding gene. Diseases associated with CCDC85A include Hydrocephalus. An important paralog of this gene is CCDC85C.

Additional gene information for CCDC85A Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC85A Gene

Genomics for CCDC85A Gene

Regulatory Elements for CCDC85A Gene

Enhancers for CCDC85A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H056229 0.8 ENCODE 19.3 +46.1 46096 1 JUN INSM2 FEZF1 EBF1 RFX5 HIC1 ZBTB48 ZNF366 FOS ZNF391 CCDC85A LOC100129434 PRORSD1P RNA5SP93 GC02M056236
GH02H056522 0.7 ENCODE 17.1 +338.9 338863 1 MAX REST ZNF501 ZNF843 RAD21 ZNF518A YY1 OSR2 JUND PRDM6 CCDC85A LOC101927213 GC02P056305
GH02H056447 1.1 Ensembl ENCODE 10.2 +265.1 265077 3 MLX INSM2 FEZF1 DNMT3B RAD21 YY1 ZNF366 MIXL1 KLF11 CEBPB CCDC85A LOC101927213 GC02P056305
GH02H056740 1 Ensembl ENCODE 10 +557.9 557870 2 GTF2F1 JUN MAX USF2 CEBPB SIN3A EP300 JUND POLR2A SMC3 CCDC85A PPIAP63 LOC101927213
GH02H056474 0.9 ENCODE 10.7 +290.8 290765 1 INSM2 FEZF1 ZNF2 RAD21 YY1 ZNF366 ZNF391 CEBPB OVOL3 TSHZ1 CCDC85A LOC101927213 GC02P056305
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC85A on UCSC Golden Path with GeneCards custom track

Promoters for CCDC85A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000117429 577 2201 ELF3 RB1 ARID4B SIN3A ZNF2 RAD21 RFX5 ZEB1 GLIS2 ZNF366

Genomic Location for CCDC85A Gene

Chromosome:
2
Start:
56,184,123 bp from pter
End:
56,386,174 bp from pter
Size:
202,052 bases
Orientation:
Plus strand

Genomic View for CCDC85A Gene

Genes around CCDC85A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC85A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC85A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC85A Gene

Proteins for CCDC85A Gene

  • Protein details for CCDC85A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PX6-CC85A_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 85A
    Protein Accession:
    Q96PX6

    Protein attributes for CCDC85A Gene

    Size:
    553 amino acids
    Molecular mass:
    59976 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB67805.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for CCDC85A Gene

Post-translational modifications for CCDC85A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC85A Gene

No data available for DME Specific Peptides for CCDC85A Gene

Domains & Families for CCDC85A Gene

Gene Families for CCDC85A Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for CCDC85A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC85A Gene

Graphical View of Domain Structure for InterPro Entry

Q96PX6

UniProtKB/Swiss-Prot:

CC85A_HUMAN :
  • Belongs to the CCDC85 family.
Family:
  • Belongs to the CCDC85 family.
genes like me logo Genes that share domains with CCDC85A: view

Function for CCDC85A Gene

Phenotypes From GWAS Catalog for CCDC85A Gene

genes like me logo Genes that share phenotypes with CCDC85A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCDC85A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CCDC85A Gene

Localization for CCDC85A 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 CCDC85A gene
Compartment Confidence
nucleus 3
cytosol 2
extracellular 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 CCDC85A Gene

Pathways & Interactions for CCDC85A Gene

SuperPathways for CCDC85A Gene

No Data Available

Interacting Proteins for CCDC85A Gene

Gene Ontology (GO) - Biological Process for CCDC85A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC85A Gene

Drugs & Compounds for CCDC85A Gene

No Compound Related Data Available

Transcripts for CCDC85A Gene

mRNA/cDNA for CCDC85A Gene

Unigene Clusters for CCDC85A Gene

Coiled-coil domain containing 85A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCDC85A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC85A Gene

No ASD Table

Relevant External Links for CCDC85A Gene

GeneLoc Exon Structure for
CCDC85A
ECgene alternative splicing isoforms for
CCDC85A

Expression for CCDC85A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC85A Gene

mRNA differential expression in normal tissues according to GTEx for CCDC85A Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.0) and Brain - Anterior cingulate cortex (BA24) (x5.4).

Protein differential expression in normal tissues from HIPED for CCDC85A Gene

This gene is overexpressed in Frontal cortex (60.2) and Fetal Brain (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CCDC85A Gene



Protein tissue co-expression partners for CCDC85A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC85A Gene:

CCDC85A

SOURCE GeneReport for Unigene cluster for CCDC85A Gene:

Hs.117136
genes like me logo Genes that share expression patterns with CCDC85A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC85A Gene

Orthologs for CCDC85A Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC85A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC85A 33 34
  • 98.73 (n)
dog
(Canis familiaris)
Mammalia CCDC85A 33 34
  • 92.36 (n)
mouse
(Mus musculus)
Mammalia Ccdc85a 33 16 34
  • 88.59 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc85a 33
  • 88.56 (n)
cow
(Bos Taurus)
Mammalia CCDC85A 34
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC85A 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC85A 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC85A 33 34
  • 77.92 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC85A 34
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ccdc85a 34
  • 51 (a)
OneToMany
ccdc85al 34
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17265 34
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F29G9.2 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4851 34
  • 45 (a)
OneToMany
Species where no ortholog for CCDC85A 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CCDC85A Gene

ENSEMBL:
Gene Tree for CCDC85A (if available)
TreeFam:
Gene Tree for CCDC85A (if available)

Paralogs for CCDC85A Gene

Paralogs for CCDC85A Gene

(2) SIMAP similar genes for CCDC85A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CCDC85A: view

Variants for CCDC85A Gene

Sequence variations from dbSNP and Humsavar for CCDC85A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000000455 -- 56,342,560(+) CATAC(C/T)TTTAC intron-variant
rs1000003886 -- 56,282,129(+) GAGAG(-/T)TTTTT intron-variant
rs1000004028 -- 56,209,026(+) GAAAG(A/G)AAGAA intron-variant
rs1000027581 -- 56,201,300(+) TTAGC(A/G)CCAGT intron-variant
rs1000037018 -- 56,274,169(+) CCTGC(C/T)CCTAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC85A Gene

Variant ID Type Subtype PubMed ID
esv2211763 CNV deletion 18987734
esv2663248 CNV deletion 23128226
esv2669305 CNV deletion 23128226
esv2720094 CNV deletion 23290073
esv2720096 CNV deletion 23290073
esv2759051 CNV gain 17122850
esv2762648 CNV gain 21179565
esv3575244 CNV gain 25503493
esv3583832 CNV loss 25503493
esv3590879 CNV loss 21293372
esv3590881 CNV loss 21293372
esv3590883 CNV loss 21293372
esv3892459 CNV loss 25118596
nsv1004449 CNV loss 25217958
nsv1123328 CNV deletion 24896259
nsv478291 CNV novel sequence insertion 20440878
nsv522006 CNV loss 19592680
nsv522944 CNV gain 19592680
nsv582032 CNV loss 21841781
nsv829431 CNV gain 20364138
nsv834093 CNV gain 17160897

Variation tolerance for CCDC85A Gene

Residual Variation Intolerance Score: 23.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.45; 77.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC85A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC85A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC85A Gene

Disorders for CCDC85A Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC85A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CCDC85A

Genetic Association Database (GAD)
CCDC85A
Human Genome Epidemiology (HuGE) Navigator
CCDC85A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC85A
genes like me logo Genes that share disorders with CCDC85A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC85A Gene

Publications for CCDC85A Gene

  1. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 60
  2. 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 45 60
  3. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks CE … Murray A (Nature genetics 2010) 3 45 60
  4. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. (PMID: 25231870) Perry JR … Ong KK (Nature 2014) 3 60
  5. DIPA-family coiled-coils bind conserved isoform-specific head domain of p120-catenin family: potential roles in hydrocephalus and heterotopia. (PMID: 25009281) Markham NO … Reynolds AB (Molecular biology of the cell 2014) 3 60

Products for CCDC85A Gene

Sources for CCDC85A Gene

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