Human Gene CCM2L (ENST00000262659.12_5) from GENCODE V47lift37
  Description: CCM2 like scaffold protein, transcript variant 2 (from RefSeq NM_080625.4)
Gencode Transcript: ENST00000262659.12_5
Gencode Gene: ENSG00000101331.17_10
Transcript (Including UTRs)
   Position: hg19 chr20:30,598,253-30,619,983 Size: 21,731 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr20:30,598,258-30,617,605 Size: 19,348 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:30,598,253-30,619,983)mRNA (may differ from genome)Protein (433 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CT160_HUMAN
DESCRIPTION: RecName: Full=Uncharacterized protein C20orf160;
SEQUENCE CAUTION: Sequence=AAH32455.1; Type=Erroneous initiation;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: CCM2L
Diseases sorted by gene-association score: cavernous malformation (21), cerebral cavernous malformations-2 (10)

-  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: 77.87 RPKM in Spleen
Total median expression: 242.08 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -515.901216-0.424 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
IPR026159 - Malcavernin

ModBase Predicted Comparative 3D Structure on Q9NUG4
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 orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function

Biological Process:
GO:0003209 cardiac atrium morphogenesis
GO:0003222 ventricular trabecula myocardium morphogenesis
GO:0008150 biological_process
GO:0032091 negative regulation of protein binding
GO:0034111 negative regulation of homotypic cell-cell adhesion
GO:0042060 wound healing
GO:0055017 cardiac muscle tissue growth
GO:0090271 positive regulation of fibroblast growth factor production

Cellular Component:
GO:0005575 cellular_component


-  Descriptions from all associated GenBank mRNAs
  AK057090 - Homo sapiens cDNA FLJ32528 fis, clone SMINT2000145, weakly similar to Halocynthia roretzi mRNA for HrPET-3.
BC030254 - Homo sapiens chromosome 20 open reading frame 160, mRNA (cDNA clone MGC:40114 IMAGE:5182496), complete cds.
JC506684 - Sequence 52 from Patent EP2733220.
JC737796 - Sequence 52 from Patent WO2014075939.
BC032455 - Homo sapiens chromosome 20 open reading frame 160, mRNA (cDNA clone IMAGE:5174270), complete cds.
AK125588 - Homo sapiens cDNA FLJ43600 fis, clone SPLEN2002147, weakly similar to Halocynthia roretzi mRNA for HrPET-3.
KJ904993 - Synthetic construct Homo sapiens clone ccsbBroadEn_14387 C20orf160 gene, encodes complete protein.
JD163090 - Sequence 144114 from Patent EP1572962.
JD470379 - Sequence 451403 from Patent EP1572962.
JD086384 - Sequence 67408 from Patent EP1572962.
JD407033 - Sequence 388057 from Patent EP1572962.
JD407854 - Sequence 388878 from Patent EP1572962.
JD248578 - Sequence 229602 from Patent EP1572962.
JD187093 - Sequence 168117 from Patent EP1572962.
JD116273 - Sequence 97297 from Patent EP1572962.
JD464505 - Sequence 445529 from Patent EP1572962.
JD210690 - Sequence 191714 from Patent EP1572962.
JD218471 - Sequence 199495 from Patent EP1572962.
JD173428 - Sequence 154452 from Patent EP1572962.
JD044811 - Sequence 25835 from Patent EP1572962.
JD183757 - Sequence 164781 from Patent EP1572962.
JD434516 - Sequence 415540 from Patent EP1572962.
JD345415 - Sequence 326439 from Patent EP1572962.
JD555478 - Sequence 536502 from Patent EP1572962.
JD078180 - Sequence 59204 from Patent EP1572962.
JD120086 - Sequence 101110 from Patent EP1572962.
JD421827 - Sequence 402851 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C20orf160, CCM2L_HUMAN, ENST00000262659.1, ENST00000262659.10, ENST00000262659.11, ENST00000262659.2, ENST00000262659.3, ENST00000262659.4, ENST00000262659.5, ENST00000262659.6, ENST00000262659.7, ENST00000262659.8, ENST00000262659.9, NM_080625, Q5JYR9, Q8N5F1, Q8N6G8, Q96MD5, Q9NUG4, uc317hco.1, uc317hco.2
UCSC ID: ENST00000262659.12_5
RefSeq Accession: NM_080625.4
Protein: Q9NUG4 (aka CT160_HUMAN or CTG0_HUMAN)

-  Gene Model Information
  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.