Human Gene CAMK2D (uc003ibm.2) Description and Page Index
  Description: Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 6, mRNA.
RefSeq Summary (NM_172114): The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008].
Transcript (Including UTRs)
   Position: hg19 chr4:114,378,344-114,683,083 Size: 304,740 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr4:114,378,487-114,682,224 Size: 303,738 Coding Exon Count: 18 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:114,378,344-114,683,083)mRNA (may differ from genome)Protein (492 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIOMIMPubMed
ReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CAMK2D
CDC HuGE Published Literature: CAMK2D
Positive Disease Associations: Breath Tests , E-Selectin , Stroke
Related Studies:
  1. Breath Tests
    , , . [PubMed 0]
  2. Breath Tests
    , , . [PubMed 0]
  3. E-Selectin
    Andrew D Paterson et al. Arteriosclerosis, thrombosis, and vascular biology 2009, Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin., Arteriosclerosis, thrombosis, and vascular biology. [PubMed 19729612]
    ABO is a major locus for serum soluble E-selectin levels. We excluded population stratification, fine-mapped the association to sub-A alleles, and also document association with additional variation in the ABO region.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CAMK2D
Diseases sorted by gene-association score: dilated cardiomyopathy (8), cardiomyopathy (3)

-  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: 36.45 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 526.10 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 -468.50859-0.545 Picture PostScript Text
3' UTR -25.80143-0.180 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
  Pfam Domains:
PF00069 - Protein kinase domain
PF07714 - Protein tyrosine kinase
PF08332 - Calcium/calmodulin dependent protein kinase II association domain
PF13474 - SnoaL-like domain
PF14534 - Domain of unknown function (DUF4440)

SCOP Domains:
47473 - EF-hand
56112 - Protein kinase-like (PK-like)
54427 - NTF2-like

ModBase Predicted Comparative 3D Structure on Q13557-10
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 BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Descriptions from all associated GenBank mRNAs
  AK025368 - Homo sapiens cDNA: FLJ21715 fis, clone COL10287, highly similar to AF071569 Homo sapiens multifunctional calcium/calmodulin-dependent protein kinase II delta2 isoform mRNA.
AK294517 - Homo sapiens cDNA FLJ53470 complete cds, highly similar to Calcium/calmodulin-dependent protein kinase type II delta chain (EC 2.7.11.17).
AK055642 - Homo sapiens cDNA FLJ31080 fis, clone HSYRA2001615, highly similar to Calcium/calmodulin-dependent protein kinase type II delta chain (EC 2.7.11.17).
AF071569 - Homo sapiens multifunctional calcium/calmodulin-dependent protein kinase II delta2 isoform mRNA, complete cds.
AB209288 - Homo sapiens mRNA for calcium/calmodulin-dependent protein kinase II delta isoform 1 variant protein.
BC032784 - Homo sapiens calcium/calmodulin-dependent protein kinase II delta, mRNA (cDNA clone MGC:44911 IMAGE:5178265), complete cds.
AY987011 - Homo sapiens calcium/calmodulin-dependent protein kinase II delta mRNA, complete cds, alternatively spliced.
EU176241 - Synthetic construct Homo sapiens clone IMAGE:100006427; FLH182803.01X; RZPDo839H07250D calcium/calmodulin-dependent protein kinase (CaM kinase) II delta (CAMK2D) gene, encodes complete protein.
KJ896536 - Synthetic construct Homo sapiens clone ccsbBroadEn_05930 CAMK2D gene, encodes complete protein.
KJ905159 - Synthetic construct Homo sapiens clone ccsbBroadEn_14565 CAMK2D gene, encodes complete protein.
DQ895255 - Synthetic construct Homo sapiens clone IMAGE:100009715; FLH182796.01L; RZPDo839C05139D calcium/calmodulin-dependent protein kinase (CaM kinase) II delta (CAMK2D) gene, encodes complete protein.
AB384909 - Synthetic construct DNA, clone: pF1KB4158, Homo sapiens CAMK2D gene for calcium/calmodulin-dependent protein kinase type II delta chain, complete cds, without stop codon, in Flexi system.
U50361 - Human calcium, calmodulin-dependent protein kinase II delta mRNA, partial cds.
U73738 - Human calcium/calmodulin-dependent protein kinase II delta E mRNA, partial cds.
EF139846 - Homo sapiens clone 1-4 calcium/calmodulin-dependent protein kinase II splice variant (CAMK2D) mRNA, partial sequence; alternatively spliced.
BC022558 - Homo sapiens calcium/calmodulin-dependent protein kinase II delta, mRNA (cDNA clone IMAGE:4794502), partial cds.
AJ252239 - Homo sapiens partial mRNA for calcium/calmodulin dependent protein kinase II delta (CaMK II delta gene).
JD065186 - Sequence 46210 from Patent EP1572962.
JD124637 - Sequence 105661 from Patent EP1572962.
JD075743 - Sequence 56767 from Patent EP1572962.
JD336951 - Sequence 317975 from Patent EP1572962.
JD222570 - Sequence 203594 from Patent EP1572962.
JD174177 - Sequence 155201 from Patent EP1572962.
JD203962 - Sequence 184986 from Patent EP1572962.
JD140763 - Sequence 121787 from Patent EP1572962.
JD142252 - Sequence 123276 from Patent EP1572962.
JD399317 - Sequence 380341 from Patent EP1572962.
JD193180 - Sequence 174204 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04012 - ErbB signaling pathway
hsa04020 - Calcium signaling pathway
hsa04114 - Oocyte meiosis
hsa04310 - Wnt signaling pathway
hsa04720 - Long-term potentiation
hsa04722 - Neurotrophin signaling pathway
hsa04740 - Olfactory transduction
hsa04912 - GnRH signaling pathway
hsa04916 - Melanogenesis
hsa05214 - Glioma

Reactome (by CSHL, EBI, and GO)

Protein Q13557 (Reactome details) participates in the following event(s):

R-HSA-442725 Activation of CaMKII
R-HSA-445367 CaMKII enters cytoplasm
R-HSA-444792 CaMKII enters nucleus
R-HSA-416320 Trafficking of GluR1-containing AMPA receptors
R-HSA-5082387 Phosphorylation of HSF1 at Ser230 induces transactivation
R-HSA-443475 Phosphorylation of CREB by CaMKII
R-HSA-442726 Raf activation
R-HSA-432172 Activation of NMDA receptor
R-HSA-432162 Unblocking of NMDA receptor
R-HSA-909552 Phosphorylation of STAT1 at Ser727
R-HSA-442760 Activation of RasGRF
R-HSA-432164 Ca2+ influx into the post-synaptic cell
R-HSA-442732 Ras activation
R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange
R-HSA-442729 CREB phosphorylation through the activation of CaMKII
R-HSA-399719 Trafficking of AMPA receptors
R-HSA-438064 Post NMDA receptor activation events
R-HSA-3371571 HSF1-dependent transactivation
R-HSA-442742 CREB phosphorylation through the activation of Ras
R-HSA-399721 Glutamate binding, activation of AMPA receptors and synaptic plasticity
R-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation
R-HSA-442755 Activation of NMDA receptor and postsynaptic events
R-HSA-3371556 Cellular response to heat stress
R-HSA-877300 Interferon gamma signaling
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-442982 Ras activation upon Ca2+ influx through NMDA receptor
R-HSA-2262752 Cellular responses to stress
R-HSA-913531 Interferon Signaling
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-112316 Neuronal System
R-HSA-168256 Immune System
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-5683057 MAPK family signaling cascades
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: CAMKD, NM_172114, NP_742112, Q13557-10
UCSC ID: uc003ibm.2
RefSeq Accession: NM_172114
Protein: Q13557-10, splice isoform of Q13557 CCDS: CCDS3704.1, CCDS47127.1, CCDS54797.1, CCDS3703.1, CCDS43263.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_172114.1
exon count: 18CDS single in 3' UTR: no RNA size: 2548
ORF size: 1479CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3158.00frame shift in genome: no % Coverage: 97.37
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: 103# 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.