Human Gene C2CD6 (ENST00000286195.7_11) from GENCODE V47lift37
  Description: C2 calcium dependent domain containing 6, transcript variant 2 (from RefSeq NM_152525.6)
Gencode Transcript: ENST00000286195.7_11
Gencode Gene: ENSG00000155754.15_17
Transcript (Including UTRs)
   Position: hg19 chr2:202,352,148-202,483,898 Size: 131,751 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr2:202,352,335-202,483,853 Size: 131,519 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:202,352,148-202,483,898)mRNA (may differ from genome)Protein (623 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMalacards
MGIPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AL2SA_HUMAN
DESCRIPTION: RecName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein;

-  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: C2CD6
Diseases sorted by gene-association score: lateral sclerosis (5), juvenile amyotrophic lateral sclerosis (3)

+  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: 12.52 RPKM in Testis
Total median expression: 17.31 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
5' UTR -14.7045-0.327 Picture PostScript Text
3' UTR -38.20187-0.204 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
  Pfam Domains:
PF15729 - Amyotrophic lateral sclerosis 2 candidate 11

SCOP Domains:
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)

ModBase Predicted Comparative 3D Structure on Q53TS8
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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding


-  Descriptions from all associated GenBank mRNAs
  BC030659 - Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11, mRNA (cDNA clone MGC:33354 IMAGE:4838801), complete cds.
HM005329 - Homo sapiens clone HTL-T-16 testicular tissue protein Li 16 mRNA, complete cds.
AK058080 - Homo sapiens cDNA FLJ25351 fis, clone TST01519.
BX648732 - Homo sapiens mRNA; cDNA DKFZp686E0628 (from clone DKFZp686E0628).
KJ900286 - Synthetic construct Homo sapiens clone ccsbBroadEn_09680 ALS2CR11 gene, encodes complete protein.
JD301178 - Sequence 282202 from Patent EP1572962.
AK097651 - Homo sapiens cDNA FLJ40332 fis, clone TESTI2031760.
AB053313 - Homo sapiens ALS2CR11 mRNA, partial cds.
AL832221 - Homo sapiens mRNA; cDNA DKFZp686H0636 (from clone DKFZp686H0636).
AL833429 - Homo sapiens mRNA; cDNA DKFZp313M0939 (from clone DKFZp313M0939).
CU688972 - Synthetic construct Homo sapiens gateway clone IMAGE:100020391 5' read ALS2CR11 mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: ALS2CR11, C2CD6 , C9IZH7, CATSPERT , CTSRT_HUMAN, E9PGG4, ENST00000286195.1, ENST00000286195.2, ENST00000286195.3, ENST00000286195.4, ENST00000286195.5, ENST00000286195.6, NM_152525, Q53TS8, Q8NCN6, Q96LN4, uc317kjj.1, uc317kjj.2
UCSC ID: ENST00000286195.7_11
RefSeq Accession: NM_152525.6
Protein: Q53TS8 (aka AL2SA_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.