Gene Gene information from NCBI Gene database.
Entrez ID 817
Gene name Calcium/calmodulin dependent protein kinase II delta
Gene symbol CAMK2D
Synonyms (NCBI Gene)
CAMKD
Chromosome 4
Chromosome location 4q26
Summary 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, t
miRNA miRNA information provided by mirtarbase database.
574
miRTarBase ID miRNA Experiments Reference
MIRT025927 hsa-miR-7-5p Microarray 19073608
MIRT052455 hsa-let-7a-5p CLASH 23622248
MIRT041998 hsa-miR-484 CLASH 23622248
MIRT860194 hsa-miR-1224-5p CLIP-seq
MIRT860195 hsa-miR-1229 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
68
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001558 Process Regulation of cell growth NAS 9060999
GO:0002026 Process Regulation of the force of heart contraction TAS 23283722
GO:0003254 Process Regulation of membrane depolarization IDA 22514276
GO:0004672 Function Protein kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607708 1462 ENSG00000145349
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13557
Protein name Calcium/calmodulin-dependent protein kinase type II subunit delta (CaM kinase II subunit delta) (CaMK-II subunit delta) (EC 2.7.11.17)
Protein function Calcium/calmodulin-dependent protein kinase involved in the regulation of Ca(2+) homeostatis and excitation-contraction coupling (ECC) in heart by targeting ion channels, transporters and accessory proteins involved in Ca(2+) influx into the myo
PDB 2VN9 , 2W2C , 2WEL , 3GP2 , 5VLO , 6AYW , 7ZRP , 7ZRQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 14 272 Protein kinase domain Domain
PF08332 CaMKII_AD 346 473 Calcium/calmodulin dependent protein kinase II association domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in cardiac muscle and skeletal muscle. Isoform Delta 3, isoform Delta 2, isoform Delta 8 and isoform Delta 9 are expressed in cardiac muscle. Isoform Delta 11 is expressed in skeletal muscle. {ECO:0000269|PubMed:10189359, ECO
Sequence
Sequence length 499
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CAMK2D-related condition Likely pathogenic rs2511649109 RCV005242107
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Pathogenic; Likely pathogenic rs2098989283, rs2515933527, rs2512545072, rs2511651497, rs2511651126, rs2511649293, rs2511649109 RCV002282583
RCV002282584
RCV002282585
RCV002282586
RCV002282587
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRUGADA SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAMK2D-RELATED NEURODEVELOPMENTAL DISORDER AND DILATED CARDIOMYOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 29892015, 30061737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation CTD_human_DG 29892015, 30061737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar disorder Pubtator 27063557 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 33742056 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 21447778 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 21447778
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 37372357 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Small Vessel Diseases Cerebral microangiopathy Pubtator 32047268 Associate
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 38274809 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 22095101 Associate
★☆☆☆☆
Found in Text Mining only