Human Gene CCDC102B (uc002lkk.2)
  Description: Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr18:66,382,491-66,722,426 Size: 339,936 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr18:66,504,001-66,721,374 Size: 217,374 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:66,382,491-66,722,426)mRNA (may differ from genome)Protein (513 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGeneCardsGeneNetworkH-INV
HGNCLynxMGIneXtProtPubMedTreefam
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: C102B_HUMAN
DESCRIPTION: RecName: Full=Coiled-coil domain-containing protein 102B;
SEQUENCE CAUTION: Sequence=AAH56269.1; Type=Miscellaneous discrepancy; Note=wrong intron-exon boundaries; Sequence=BAB15706.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD38721.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD38721.2; Type=Frameshift; Positions=200;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CCDC102B
CDC HuGE Published Literature: CCDC102B
Positive Disease Associations: Body Mass Index , Cholesterol, HDL , Cholesterol, LDL , Erythrocyte Indices , Lipids , Lipoproteins, VLDL , Triglycerides
Related Studies:
  1. Body Mass Index
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  2. Cholesterol, HDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  3. Cholesterol, LDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.16 RPKM in Lung
Total median expression: 46.31 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -55.80223-0.250 Picture PostScript Text
3' UTR -223.411052-0.212 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q68D86
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding


-  Descriptions from all associated GenBank mRNAs
  KJ903235 - Synthetic construct Homo sapiens clone ccsbBroadEn_12629 CCDC102B gene, encodes complete protein.
KJ903236 - Synthetic construct Homo sapiens clone ccsbBroadEn_12630 CCDC102B gene, encodes complete protein.
AK308114 - Homo sapiens cDNA, FLJ98062.
CR749520 - Homo sapiens mRNA; cDNA DKFZp686I08254 (from clone DKFZp686I08254).
AL833863 - Homo sapiens mRNA; cDNA DKFZp434K1426 (from clone DKFZp434K1426).
AK225597 - Homo sapiens mRNA for Hypothetical protein C18orf14 variant, clone: LNG14867.
AK027247 - Homo sapiens cDNA: FLJ23594 fis, clone LNG14867.
BC126448 - Homo sapiens coiled-coil domain containing 102B, mRNA (cDNA clone MGC:161726 IMAGE:8992164), complete cds.
BC126450 - Homo sapiens coiled-coil domain containing 102B, mRNA (cDNA clone MGC:161728 IMAGE:8992166), complete cds.
HQ258366 - Synthetic construct Homo sapiens clone IMAGE:100072795 Unknown protein gene, encodes complete protein.
AK091108 - Homo sapiens cDNA FLJ33789 fis, clone BRSSN2009378.
AK057282 - Homo sapiens cDNA FLJ32720 fis, clone TESTI2000849, weakly similar to MYOSIN HEAVY CHAIN, CLONE 203.
BC056269 - Homo sapiens coiled-coil domain containing 102B, mRNA (cDNA clone IMAGE:6620137), complete cds.
JD093271 - Sequence 74295 from Patent EP1572962.
JD524200 - Sequence 505224 from Patent EP1572962.
JD047364 - Sequence 28388 from Patent EP1572962.
JD188504 - Sequence 169528 from Patent EP1572962.
JD236324 - Sequence 217348 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C102B_HUMAN, C18orf14, NM_001093729, NP_079057, Q68D86, Q7Z467, Q8NDK7, Q9H5C1
UCSC ID: uc002lkk.2
RefSeq Accession: NM_001093729
Protein: Q68D86 (aka C102B_HUMAN)
CCDS: CCDS11996.2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001093729.1
exon count: 10CDS single in 3' UTR: no RNA size: 2828
ORF size: 1542CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 3084.50frame shift in genome: no % Coverage: 99.61
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.