Human Gene TMCC2 (uc001hcb.2) Description and Page Index
  Description: Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 2, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr1:205,225,329-205,242,471 Size: 17,143 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr1:205,225,518-205,241,252 Size: 15,735 Coding Exon Count: 4 

Page IndexSequence and LinksGenetic AssociationsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:205,225,329-205,242,471)mRNA (may differ from genome)Protein (469 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMGIPubMedStanford SOURCETreefam
UniProtKB

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TMCC2
CDC HuGE Published Literature: TMCC2
Positive Disease Associations: mean platelet volume , Platelet Count , Waist-Hip Ratio
Related Studies:
  1. mean platelet volume
    Soranzo ,et al. 2009, A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium, Nature genetics 2009 41- 11 : 1182-90. [PubMed 19820697]
  2. Platelet Count
    Nicole Soranzo et al. Nature genetics 2009, A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium., Nature genetics. [PubMed 19820697]
  3. Platelet Count
    Christian Gieger et al. Nature 2011, New gene functions in megakaryopoiesis and platelet formation., Nature. [PubMed 22139419]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 41.10 RPKM in Brain - Cerebellum
Total median expression: 424.08 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 -62.40189-0.330 Picture PostScript Text
3' UTR -485.081219-0.398 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
  InterPro Domains: Graphical view of domain structure
IPR019394 - Predicted_TM_coiled-coil_2

Pfam Domains:
PF10267 - Predicted transmembrane and coiled-coil 2 protein

ModBase Predicted Comparative 3D Structure on G5E963
FrontTopSide
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 orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AB007950 - Homo sapiens KIAA0481 mRNA for KIAA0481 protein.
AK131419 - Homo sapiens cDNA FLJ16535 fis, clone OCBBF2030116.
BC131629 - Homo sapiens transmembrane and coiled-coil domain family 2, mRNA (cDNA clone MGC:149813 IMAGE:40118729), complete cds.
KJ898115 - Synthetic construct Homo sapiens clone ccsbBroadEn_07509 TMCC2 gene, encodes complete protein.
AB384488 - Synthetic construct DNA, clone: pF1KA0481, Homo sapiens TMCC2 gene for transmembrane and coiled-coil domains protein 2, complete cds, without stop codon, in Flexi system.
AK293734 - Homo sapiens cDNA FLJ53306 complete cds, highly similar to Transmembrane and coiled-coil domains protein 2.
AK314398 - Homo sapiens cDNA, FLJ95175, highly similar to Homo sapiens cerebral protein 11 (HUCEP11), mRNA.
AB001596 - Homo sapiens hucep-11 mRNA for cerebral protein-11, complete cds.
AK095816 - Homo sapiens cDNA FLJ38497 fis, clone FELIV1000164, highly similar to Transmembrane and coiled-coil domains protein 2.
BC041019 - Homo sapiens transmembrane and coiled-coil domain family 2, mRNA (cDNA clone IMAGE:3357384), partial cds.
AY358192 - Homo sapiens clone DNA142934 GLSH6409 (UNQ6409) mRNA, complete cds.
DQ580563 - Homo sapiens piRNA piR-48675, complete sequence.
HQ257910 - Synthetic construct Homo sapiens clone IMAGE:100072219 Unknown protein gene, encodes complete protein.
KJ906013 - Synthetic construct Homo sapiens clone ccsbBroadEn_15683 TMCC2 gene, encodes complete protein.
BC053876 - Homo sapiens transmembrane and coiled-coil domain family 2, mRNA (cDNA clone IMAGE:5503591), complete cds.
AK094913 - Homo sapiens cDNA FLJ37594 fis, clone BRCOC2007769.
JD071804 - Sequence 52828 from Patent EP1572962.
JD554116 - Sequence 535140 from Patent EP1572962.
JD465454 - Sequence 446478 from Patent EP1572962.
JD069105 - Sequence 50129 from Patent EP1572962.
JD399075 - Sequence 380099 from Patent EP1572962.
JD190830 - Sequence 171854 from Patent EP1572962.
JD122572 - Sequence 103596 from Patent EP1572962.
JD355895 - Sequence 336919 from Patent EP1572962.
JD282624 - Sequence 263648 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK095816, G5E963, G5E963_HUMAN, hCG_14993, NM_001242925, NP_001229854
UCSC ID: uc001hcb.2
RefSeq Accession: NM_001242925
Protein: G5E963

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK095816.1
exon count: 4CDS single in 3' UTR: no RNA size: 2812
ORF size: 1410CDS single in intron: no Alignment % ID: 99.86
txCdsPredict score: 3014.00frame 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.