Human Gene CCDC148 (uc002tzq.3) Description and Page Index
  Description: Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr2:159,027,869-159,313,265 Size: 285,397 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr2:159,028,625-159,312,951 Size: 284,327 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:159,027,869-159,313,265)mRNA (may differ from genome)Protein (591 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: CC148_HUMAN
DESCRIPTION: RecName: Full=Coiled-coil domain-containing protein 148;
SEQUENCE CAUTION: Sequence=AAI07598.1; Type=Frameshift; Positions=383;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CCDC148
CDC HuGE Published Literature: CCDC148
Positive Disease Associations: Osteoporosis
Related Studies:
  1. Osteoporosis
    Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics. [PubMed 17903296]
    The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.13 RPKM in Testis
Total median expression: 15.72 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -142.41314-0.454 Picture PostScript Text
3' UTR -135.83756-0.180 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 Q8NFR7
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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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

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


-  Descriptions from all associated GenBank mRNAs
  AK123220 - Homo sapiens cDNA FLJ41226 fis, clone BRAMY2030206.
AF458588 - Homo sapiens unknown mRNA.
BC031994 - Homo sapiens coiled-coil domain containing 148, mRNA (cDNA clone IMAGE:4750924), containing frame-shift errors.
BC105928 - Homo sapiens coiled-coil domain containing 148, mRNA (cDNA clone IMAGE:40025921), complete cds.
BC107596 - Homo sapiens coiled-coil domain containing 148, mRNA (cDNA clone MGC:125588 IMAGE:40025915), complete cds.
BC107597 - Homo sapiens coiled-coil domain containing 148, mRNA (cDNA clone MGC:125589 IMAGE:40025920), complete cds.
KJ904984 - Synthetic construct Homo sapiens clone ccsbBroadEn_14378 CCDC148 gene, encodes complete protein.
AK308783 - Homo sapiens cDNA, FLJ98824.
AK311042 - Homo sapiens cDNA, FLJ18084.
AK309246 - Homo sapiens cDNA, FLJ99287.
AK058105 - Homo sapiens cDNA FLJ25376 fis, clone TST02010.
BC015395 - Homo sapiens coiled-coil domain containing 148, mRNA (cDNA clone IMAGE:4432090), complete cds.
CU677295 - Synthetic construct Homo sapiens gateway clone IMAGE:100018620 5' read LOC130940 mRNA.
KJ903763 - Synthetic construct Homo sapiens clone ccsbBroadEn_13157 CCDC148 gene, encodes complete protein.
JD249153 - Sequence 230177 from Patent EP1572962.
JD460699 - Sequence 441723 from Patent EP1572962.
JD173575 - Sequence 154599 from Patent EP1572962.
JD479184 - Sequence 460208 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: CC148_HUMAN, NM_138803, NP_620158, Q3B7I3, Q3B7I4, Q3KR41, Q4ZG12, Q4ZG23, Q53TM6, Q8NFR7, Q96BN5, Q96LM2
UCSC ID: uc002tzq.3
RefSeq Accession: NM_138803
Protein: Q8NFR7 (aka CC148_HUMAN)
CCDS: CCDS33304.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_138803.3
exon count: 14CDS single in 3' UTR: no RNA size: 2846
ORF size: 1776CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3642.50frame shift in genome: no % Coverage: 100.00
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.