Human Gene ATP2C2 (uc010chj.3)
  Description: Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr16:84,402,133-84,497,793 Size: 95,661 Total Exon Count: 28 Strand: +
Coding Region
   Position: hg19 chr16:84,402,222-84,497,338 Size: 95,117 Coding Exon Count: 28 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:84,402,133-84,497,793)mRNA (may differ from genome)Protein (975 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: E7ES94_HUMAN
DESCRIPTION: SubName: Full=Calcium-transporting ATPase type 2C member 2;
SIMILARITY: Belongs to the cation transport ATPase (P-type) family.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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): ATP2C2
CDC HuGE Published Literature: ATP2C2
Positive Disease Associations: ADHD | attention-deficit hyperactivity disorder , Attention Deficit Disorder with Hyperactivity
Related Studies:
  1. ADHD | attention-deficit hyperactivity disorder
    Lesch ,et al. 2008, Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies, Journal of neural transmission (Vienna, Austria : 1996) 2008 115- 11 : 1573-85. [PubMed 18839057]
  2. Attention Deficit Disorder with Hyperactivity
    Klaus-Peter Lesch et al. Journal of neural transmission (Vienna, Austria : 1996) 2008, Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies., Journal of neural transmission (Vienna, Austria : 1996). [PubMed 18839057]

-  MalaCards Disease Associations
  MalaCards Gene Search: ATP2C2
Diseases sorted by gene-association score: speech and communication disorders (7), specific language impairment (6)

-  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: 27.29 RPKM in Colon - Transverse
Total median expression: 144.94 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 -51.8089-0.582 Picture PostScript Text
3' UTR -194.70455-0.428 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
IPR023306 - ATPase_cation_domN
IPR008250 - ATPase_P-typ_ATPase-assoc-dom
IPR006413 - ATPase_P-typ_Ca-transp_PMR1
IPR006068 - ATPase_P-typ_cation-transptr_C
IPR004014 - ATPase_P-typ_cation-transptr_N
IPR023300 - ATPase_P-typ_cyto_domA
IPR023299 - ATPase_P-typ_cyto_domN
IPR000695 - ATPase_P-typ_H-transp
IPR001757 - ATPase_P-typ_ion-transptr
IPR018303 - ATPase_P-typ_P_site
IPR023298 - ATPase_P-typ_TM_dom
IPR005834 - Dehalogen-like_hydro
IPR023214 - HAD-like_dom

Pfam Domains:
PF00122 - E1-E2 ATPase
PF00689 - Cation transporting ATPase, C-terminus
PF00690 - Cation transporter/ATPase, N-terminus
PF00702 - haloacid dehalogenase-like hydrolase
PF13246 - Cation transport ATPase (P-type)

SCOP Domains:
81653 - Calcium ATPase, transduction domain A
56784 - HAD-like
81660 - Metal cation-transporting ATPase, ATP-binding domain N
81665 - Calcium ATPase, transmembrane domain M

ModBase Predicted Comparative 3D Structure on E7ES94
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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     
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-  Descriptions from all associated GenBank mRNAs
  AK300526 - Homo sapiens cDNA FLJ56246 complete cds, highly similar to Probable calcium-transporting ATPase (EC 3.6.3.8).
AY791884 - Homo sapiens secretory pathway calcium ATPase 2 (ATP2C2) mRNA, complete cds.
BX648333 - Homo sapiens mRNA; cDNA DKFZp686I0955 (from clone DKFZp686I0955).
AK316128 - Homo sapiens cDNA, FLJ79027 complete cds, highly similar to Probable calcium-transporting ATPase (EC 3.6.3.8).
CR749829 - Homo sapiens mRNA; cDNA DKFZp686H22230 (from clone DKFZp686H22230).
BC156684 - Synthetic construct Homo sapiens clone IMAGE:100062156, MGC:190185 ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2) mRNA, encodes complete protein.
AB014603 - Homo sapiens mRNA for KIAA0703 protein, partial cds.
AK091051 - Homo sapiens cDNA FLJ33732 fis, clone BRAWH2017913, highly similar to Probable calcium-transporting ATPase (EC 3.6.3.8).
AK025424 - Homo sapiens cDNA: FLJ21771 fis, clone COLF7779.
AK092737 - Homo sapiens cDNA FLJ35418 fis, clone SMINT2000811, moderately similar to CALCIUM-TRANSPORTING ATPASE 2C1 (EC 3.6.1.38).
AX747697 - Sequence 1222 from Patent EP1308459.
AY358243 - Homo sapiens clone DNA163116 ELCV5929 (UNQ5929) mRNA, complete cds.
JD141982 - Sequence 123006 from Patent EP1572962.
JD399706 - Sequence 380730 from Patent EP1572962.
JD073449 - Sequence 54473 from Patent EP1572962.
JD372458 - Sequence 353482 from Patent EP1572962.
JD170040 - Sequence 151064 from Patent EP1572962.
JD159944 - Sequence 140968 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BX648333, E7ES94, E7ES94_HUMAN, NM_014861, NP_055676
UCSC ID: uc010chj.3
RefSeq Accession: NM_014861
Protein: E7ES94 CCDS: CCDS42207.1, CCDS67088.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BX648333.1
exon count: 28CDS single in 3' UTR: no RNA size: 3493
ORF size: 2928CDS single in intron: no Alignment % ID: 99.80
txCdsPredict score: 5947.00frame shift in genome: no % Coverage: 99.40
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.