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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CCDC85C Gene

protein-coding   GIFtS: 39
GCID: GC14M099978

Coiled-Coil Domain Containing 85C

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Coiled-Coil Domain Containing 85C1 2
Coiled-Coil Domain-Containing Protein 85C2

External Ids:    HGNC: 354591   Entrez Gene: 3177622   Ensembl: ENSG000002054767   UniProtKB: A6NKD93   

Export aliases for CCDC85C gene to outside databases

Previous GC identifers: GC14M099052 GC14M080161


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for CCDC85C Gene: 
CCDC85C (coiled-coil domain containing 85C) is a protein-coding gene. Diseases associated with CCDC85C include cerebritis. An important paralog of this gene is CCDC85B.

UniProtKB/Swiss-Prot: CC85C_HUMAN, A6NKD9
Function: May play an important role in cortical development, especially in the maintenance of radial glia (By
similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC85C gene promoter:
         Max   FOXO1a   Nkx2-5   FOXO1   Egr-4   c-Myc   GATA-1   YY1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CCDC85C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC85C


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.31   Ensembl cytogenetic band:  14q32.2   HGNC cytogenetic band: 14q32.31

CCDC85C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC85C gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M099978:  view genomic region     (about GC identifiers)

Start:
99,977,603 bp from pter      End:
100,070,727 bp from pter
Size:
93,125 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CC85C_HUMAN, A6NKD9 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 85C  
Size: 419 amino acids; 45210 Da
Subcellular location: Cell junction, tight junction (By similarity). Note=Localizes to the apical junction of
radial glia in the wall of lateral ventricles of the developing brain (By similarity). Colocalizes with TJP1 on
the meshwork-like structure of adherens junctions on the lateral ventricles wall (By similarity)

Explore the universe of human proteins at neXtProt for CCDC85C: NX_A6NKD9

Explore proteomics data for CCDC85C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A6NKD9

  • CCDC85C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCDC85C Protein Expression
    REFSEQ proteins: NP_001138467.1  
    ENSEMBL proteins: 
     ENSP00000369592   ENSP00000450850   ENSP00000452496   ENSP00000450602   ENSP00000451294  
     ENSP00000452300   ENSP00000451718  

    Human Recombinant Protein Products for CCDC85C: 
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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005923tight junction IEA--
    GO:0043296apical junction complex ISS--

    CCDC85C for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR019359 DUF2216_coiled-coil

    Graphical View of Domain Structure for InterPro Entry A6NKD9

    ProtoNet protein and cluster: A6NKD9

    UniProtKB/Swiss-Prot: CC85C_HUMAN, A6NKD9
    Similarity: Belongs to the CCDC85 family


    CCDC85C for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CC85C_HUMAN, A6NKD9
    Function: May play an important role in cortical development, especially in the maintenance of radial glia (By
    similarity)

    Animal Models:

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCDC85C

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0021987cerebral cortex development ISS--

    CCDC85C for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CCDC85C (CC85C)

    Search CenterWatch for drugs/clinical trials and news about CCDC85C / CC85C

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CCDC85C gene: 
    NM_001144995.1  

    Unigene Cluster for CCDC85C:

    Coiled-coil domain containing 85C
    Hs.709288  [show with all ESTs]
    Unigene Representative Sequence: NM_001144995
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380243(uc010avr.3) ENST00000557769 ENST00000557576 ENST00000555822
    ENST00000554996 ENST00000554877 ENST00000556348
    miRNA
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    hsa-miR-411* hsa-miR-140-5p hsa-miR-607 hsa-miR-411 hsa-miR-15a hsa-miR-199a-3p hsa-miR-200a hsa-miR-128
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC85C
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC85C

    Additional mRNA sequence: 

    AK026211.1 AK093969.1 AK096927.1 AK123840.1 BC029998.1 BC031990.1 BC110042.1 

    8 DOTS entries:

    DT.215479  DT.97790024  DT.99995239  DT.102831403  DT.307781  DT.99989749  DT.101969345  DT.95093600 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CCDC85C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGCAGAGC
    CCDC85C Expression
    About this image


    See CCDC85C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC85C

    SOURCE GeneReport for Unigene cluster: Hs.709288
        SABiosciences Custom PCR Arrays for CCDC85C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC85C

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CCDC85C gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc85c1 , 5 coiled-coil domain containing 85C1, 5 90.79(n)1
    94.47(a)1
      12 (59.23 cM)5
    6681581  NM_001159910.11  NP_001153382.11 
     1082063455 
    chicken
    (Gallus gallus)
    Aves CCDC85C1 coiled-coil domain containing 85C 76.59(n)
    77.55(a)
      423447  XM_421357.2  XP_421357.2 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC85C6
    Uncharacterized protein
    69(a)
    1 ↔ 1
    GL343270.1(1616281-1807292)
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc85ca1 coiled-coil domain containing 85C, a 67.55(n)
    70.11(a)
      751667  NM_001045384.1  NP_001038849.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG172651 CG17265 56.39(n)
    47.95(a)
      33509  NM_134890.2  NP_608734.2 
    worm
    (Caenorhabditis elegans)
    Secernentea F29G9.26
    Protein F29G9.2, isoform a
    17(a)
    1 → many
    V(6018992-6026341)


    ENSEMBL Gene Tree for CCDC85C (if available)
    TreeFam Gene Tree for CCDC85C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CCDC85C gene
    CCDC85B2  CCDC85A2  
    2 SIMAP similar genes for CCDC85C using alignment to 6 protein entries:     CC85C_HUMAN (see all proteins):
    CCDC85B    CCDC85A

    CCDC85C for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2059 SNPs in CCDC85C are shown (see all 2059)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs39949761,2
    C--80970719(+) GGATC-/AAA   
       
    /AAAA
    TCCCT
    2 -- ut310--------
    rs1884857091,2
    --99978469(+) ATGTTC/TTTACC 1 -- ut310--------
    rs1931445531,2
    --99978604(+) TCCAGG/TTCTCA 1 -- ut310--------
    rs1849385861,2
    --99978735(+) CCTCTA/GCCGCT 1 -- ut310--------
    rs39181331,2
    C,F--99978753(+) CATGCA/GTTTAG 1 -- ut312Minor allele frequency- G:0.02NS NA 178
    rs1898804851,2
    --99978768(+) AAGAAA/TAAAAA 1 -- ut310--------
    rs1810408751,2
    --99978881(+) AAAAAA/GGTGCC 1 -- ut310--------
    rs1409857301,2
    --99978949(+) TGGGGC/TGAAAG 1 -- ut310--------
    rs1836957571,2
    --99978981(+) GGAAAC/TTGAAG 1 -- ut310--------
    rs39181351,2
    C,F--99979113(+) GGTCGC/TCCTGC 1 -- ut312Minor allele frequency- T:0.08NS EA 276

    HapMap Linkage Disequilibrium report for CCDC85C (99977603 - 100070727 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for CCDC85C (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2227205CNV Deletion18987734
    esv2749101CNV Deletion23290073
    esv2749100CNV Deletion23290073
    nsv85788CNV Loss16902084
    nsv456423CNV Loss19166990
    dgv1978n71CNV Loss21882294
    esv23792CNV Loss19812545
    dgv1977n71CNV Loss21882294
    nsv456422CNV Loss19166990
    nsv902220CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for CCDC85C:    About MalaCards
    cerebritis    


    CCDC85C for disorders           About GeneDecksing


    Export disorders for CCDC85C gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CCDC85C gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CCDC85C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
    2. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    3. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    4. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 317762 HGNC: 35459 Ensembl:ENSG00000205476 euGenes: HUgn317762 ECgene: CCDC85C
    H-InvDB: CCDC85C

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CCDC85C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CCDC85C gene:
    Search GeneIP for patents involving CCDC85C

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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