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CCDC102A Gene

protein-coding   GIFtS: 42
GCID: GC16M057546

Coiled-Coil Domain Containing 102A

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Coiled-Coil Domain Containing 102A1 2
Coiled-Coil Domain-Containing Protein 102A2

External Ids:    HGNC: 280971   Entrez Gene: 929222   Ensembl: ENSG000001357367   UniProtKB: Q96A193   

Export aliases for CCDC102A gene to outside databases

Previous GC identifers: GC16M056104 GC16M043413


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CCDC102A Gene:
CCDC102A (coiled-coil domain containing 102A) is a protein-coding gene. Diseases associated with CCDC102A include diabetic cataract, and cataract. An important paralog of this gene is CCDC102B.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC102A gene promoter:
         c-Fos   Spz1   AP-1   MIF-1   AP-2gamma   AP-2beta   SEF-1 (1)   c-Jun   Pax-4a   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC102A promoter sequence
   Search Chromatin IP Primers for CCDC102A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC102A


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

Entrez Gene cytogenetic band: 16q21   Ensembl cytogenetic band:  16q21   HGNC cytogenetic band: 16q13

CCDC102A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC102A gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M057546:  view genomic region     (about GC identifiers)

Start:
57,546,090 bp from pter      End:
57,570,511 bp from pter
Size:
24,422 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: C102A_HUMAN, Q96A19 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 102A  
Size: 550 amino acids; 62596 Da
Secondary accessions: Q9BT74

Explore the universe of human proteins at neXtProt for CCDC102A: NX_Q96A19

Explore proteomics data for CCDC102A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC102A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_149989.2  
    ENSEMBL proteins: 
     ENSP00000258214  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q96A19


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC102A
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    hsa-mir-1 (MIRT024024)

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    hsa-miR-30c-2* hsa-miR-612 hsa-miR-520d-5p hsa-miR-30c-1* hsa-miR-524-5p hsa-miR-556-3p hsa-miR-1293 hsa-miR-1207-5p
    SwitchGear 3'UTR luciferase reporter plasmidCCDC102A 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol1
    mitochondrion1

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CCDC102A
    Interactions:

        Search GeneGlobe Interaction Network for CCDC102A

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CCDC102A (C102A)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CCDC102A gene: 
    NM_033212.3  

    Unigene Cluster for CCDC102A:

    Coiled-coil domain containing 102A
    Hs.644611  [show with all ESTs]
    Unigene Representative Sequence: BC009941
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000258214(uc002elw.3) ENST00000569068
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CCDC102A (see all 9):
    hsa-miR-30c-2* hsa-miR-612 hsa-miR-520d-5p hsa-miR-30c-1* hsa-miR-524-5p hsa-miR-556-3p hsa-miR-1293 hsa-miR-1207-5p
    SwitchGear 3'UTR luciferase reporter plasmidCCDC102A 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CCDC102A
      QuantiFast Probe-based Assays in human, mouse, rat CCDC102A

    Additional mRNA sequence: 

    BC004307.1 BC008285.1 BC009941.2 

    3 DOTS entries:

    DT.65288690  DT.100805793  DT.92070633 

    Selected AceView cDNA sequences (see all 44):

    BC008285 CA447342 BC009941 NM_033212 BC004307 CA449463 CD514661 BQ278949 
    BE392896 BX358544 BI523810 BQ691389 BU860288 CD514635 BU944696 BX092777 
    BI198257 BX332067 AI658619 CA424134 BF932209 AI858300 BU180414 BG056486 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CCDC102A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGGGGCAG
    CCDC102A Expression
    About this image


    CCDC102A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    CCDC102A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC102A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.644611
        Custom PCR Arrays for CCDC102A
    Primer
    Products:
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    QuantiFast Probe-based Assays in human, mouse, rat CCDC102A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC102A

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CCDC102A gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc102a1 , 5 coiled-coil domain containing 102A1, 5 86.04(n)1
    92.53(a)1
      8 (46.99 cM)5
    2345821  NM_001033533.31  NP_001028705.21 
     949028695 
    chicken
    (Gallus gallus)
    Aves CCDC102A1 coiled-coil domain containing 102A 78.27(n)
    77.09(a)
      427528  XM_003641883.2  XP_003641931.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC102A6
    coiled-coil domain containing 102A
    88(a)
    1 ↔ 1
    GL343677.1(59964-66078)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccdc102a1 coiled-coil domain containing 102A 64.16(n)
    69.17(a)
      100124933  NM_001102874.1  NP_001096344.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc66e012 wufc66e01 83.26(n)   325319  CD750786.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG316381 CG31638 55.36(n)
    47.42(a)
      33910  NM_164692.2  NP_723186.2 


    ENSEMBL Gene Tree for CCDC102A (if available)
    TreeFam Gene Tree for CCDC102A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC102A gene
    CCDC102B2  
    2 SIMAP similar genes for CCDC102A using alignment to 2 protein entries:     C102A_HUMAN (see all proteins):
    CCDC102B    LRRFIP1

    CCDC102A 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CCDC102A (see all 593)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs107753361,2
    C,F,A,H--57545736(+) TTATTC/GATTCA 1 -- int127Minor allele frequency- G:0.20NS EA NA WA 3186
    rs80505171,2
    C,F,A,H--57545826(+) GCAACC/TCCCAC 1 -- int19Minor allele frequency- T:0.44NA WA CSA EA 255
    rs1440548991,2
    --57545829(+) ACTCCC/TACCTC 1 -- int10--------
    rs1884931001,2
    --57545863(+) CTCAGA/CCTCCT 1 -- int10--------
    rs113535841,2
    C--57545919(+) TTGTG-/T/TT  
            
    TTTTT
    1 -- int11CSA 2
    rs568674011,2
    C--57545936(+) TTTTT-/T/TT  
            
    CATTT
    1 -- int11NA 2
    rs124439621,2
    C,F,H--57546021(+) CCTGCG/ATTGGA 1 -- int15Minor allele frequency- A:0.28NA WA EA 244
    rs1164912471,2
    C,F--57546085(+) TCATTC/TTTTCT 1 -- int12Minor allele frequency- T:0.02WA EA 238
    rs99227631,2
    C,F,H--57546146(+) TCAGCG/ATCAGG 1 -- ut31 ese325Minor allele frequency- A:0.20NS EA NA WA CSA 2856
    rs1925731621,2
    --57546166(+) ATGCCA/GTCCCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CCDC102A (57546090 - 57570511 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CCDC102A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv906726CNV Loss21882294
    nsv906728CNV Loss21882294
    esv28778CNV Loss19812545
    nsv906727CNV Loss21882294
    nsv833245CNV Loss17160897
    nsv906725CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC102A
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC102A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    3 diseases for CCDC102A:    
    About MalaCards
    diabetic cataract    cataract    malaria


    CCDC102A for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: CCDC102A (1 document)

    Export disorders for CCDC102A 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)
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    PubMed articles for CCDC102A gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC102A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Novel susceptibility genes associated with diabetic cataract in a Taiwanese population. (PubMed id 23137000)1 Lin H.J....Tsai F.J. (Ophthalmic Genet. 2013)
    4. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    5. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    6. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 92922 HGNC: 28097 AceView: MGC10992 Ensembl:ENSG00000135736 euGenes: HUgn92922
    ECgene: CCDC102A H-InvDB: CCDC102A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CCDC102A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CCDC102A gene:
    Search GeneIP for patents involving CCDC102A

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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