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Aliases for CALM3 Gene

Aliases for CALM3 Gene

  • Calmodulin 3 2 3 5
  • Phosphorylase Kinase Subunit Delta 2 3
  • Prepro-Calmodulin 3 2 3
  • CaMIII 3 4
  • Calmodulin 3 (Phosphorylase Kinase, Delta) 2
  • Epididymis Secretory Protein Li 72 3
  • Calmodulin-3 3
  • HEL-S-72 3
  • CALML2 4
  • PHKD3 3
  • PHKD 3
  • CAM3 4
  • CAMC 4
  • CaM 3

External Ids for CALM3 Gene

Previous GeneCards Identifiers for CALM3 Gene

  • GC19P047748
  • GC19P047495
  • GC19P051780
  • GC19P051797
  • GC19P051798
  • GC19P051799
  • GC19P047105
  • GC19P043529

Summaries for CALM3 Gene

Entrez Gene Summary for CALM3 Gene

  • This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene. [provided by RefSeq, Aug 2016]

GeneCards Summary for CALM3 Gene

CALM3 (Calmodulin 3) is a Protein Coding gene. Diseases associated with CALM3 include Long Qt Syndrome 1 and Catecholaminergic Polymorphic Ventricular Tachycardia. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and eNOS activation and regulation. GO annotations related to this gene include calcium ion binding and protein domain specific binding. An important paralog of this gene is CALM1.

UniProtKB/Swiss-Prot for CALM3 Gene

  • Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis.

Gene Wiki entry for CALM3 Gene

Additional gene information for CALM3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CALM3 Gene

Genomics for CALM3 Gene

Regulatory Elements for CALM3 Gene

Enhancers for CALM3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H046600 1.4 ENCODE dbSUPER 6.9 +1.3 1321 4.6 DMAP1 YY1 ZNF143 SP3 ZC3H11A NFYC ZNF610 GLIS1 RCOR2 NBN ZC3H4 ENSG00000268810 CCDC61 ENSG00000269148 CCDC9 FBXO46 IRF2BP1 INAFM1 PPP5D1 PNMA8A
GH19H046618 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.2 +21.5 21494 8.7 HDGF PKNOX1 ZNF133 YBX1 GLI4 GLIS2 ZNF416 ZNF143 ZNF207 ATF7 ZC3H4 BICRA ENSG00000268746 ENSG00000268810 INAFM1 FKRP PTGIR CALM3 PRKD2 GC19M046616
GH19H046859 2.1 FANTOM5 Ensembl ENCODE dbSUPER 4 +262.4 262361 8.5 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ENSG00000268810 ZC3H4 ARHGAP35 SLC1A5 ENSG00000269124 BICRA TMEM160 CCDC61 CCDC9 PPP5C
GH19H046611 1.3 Ensembl ENCODE dbSUPER 5.6 +11.0 11040 1.8 BCOR HDGF ZMYM3 FEZF1 EBF1 RELA ZNF121 POLR2A EED PRDM10 CALM3 ENSG00000269292 GC19M046616
GH19H046610 0.6 dbSUPER 6.6 +9.8 9788 0.6 PAF1 HDGF SSRP1 POLR2A MYNN SUPT5H CALM3 ENSG00000269292 GC19M046616
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CALM3 on UCSC Golden Path with GeneCards custom track

Promoters for CALM3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000110393 426 2601 FEZF1 DMAP1 YY1 ZNF143 SP3 ZC3H11A NFYC ZNF610 GLIS1 RCOR2

Genomic Locations for CALM3 Gene

Genomic Locations for CALM3 Gene
chr19:46,601,074-46,610,793
(GRCh38/hg38)
Size:
9,720 bases
Orientation:
Plus strand
chr19:47,104,331-47,114,050
(GRCh37/hg19)

Genomic View for CALM3 Gene

Genes around CALM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CALM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CALM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CALM3 Gene

Proteins for CALM3 Gene

  • Protein details for CALM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DP25-CALM3_HUMAN
    Recommended name:
    Calmodulin-3
    Protein Accession:
    P0DP25
    Secondary Accessions:
    • P02593
    • P62158
    • P70667
    • P99014
    • Q13942
    • Q53S29
    • Q61379
    • Q61380
    • Q96HK3

    Protein attributes for CALM3 Gene

    Size:
    149 amino acids
    Molecular mass:
    16838 Da
    Quaternary structure:
    • Interacts with MYO1C, MYO5A and RRAD. Interacts with MYO10 (By similarity). Interacts with CEP97, CCP110, TTN/titin and SRY (PubMed:9804419, PubMed:12871148, PubMed:15746192, PubMed:16760425, PubMed:17719545). Interacts with USP6; the interaction is calcium dependent (PubMed:16127172). Interacts with CDK5RAP2 (PubMed:20466722). Interacts with SCN5A (By similarity). Interacts with RYR1 (PubMed:18650434). Interacts with FCHO1 (PubMed:22484487). Interacts with MIP in a 1:2 stoichiometry; the interaction with the cytoplasmic domains from two MIP subunits promotes MIP water channel closure (By similarity). Interacts with ORAI1; this may play a role in the regulation of ORAI1-mediated calcium transport (By similarity). Interacts with IQCF1 (By similarity). Interacts with SYT7 (By similarity). Interacts with CEACAM1 (via cytoplasmic domain); this interaction is in a calcium dependent manner and reduces homophilic cell adhesion through dissociation of dimer (By similarity). Interacts with RYR2; regulates RYR2 calcium-release channel activity (PubMed:27516456, PubMed:18650434). Interacts with PCP4; regulates calmodulin calcium-binding (PubMed:27876793). Interacts with the heterotetrameric KCNQ2 and KCNQ3 channel; the interaction is calcium-independent, constitutive and participates to the proper assembly of a functional heterotetrameric M channel (PubMed:27564677).
    Miscellaneous:
    • This protein has four functional calcium-binding sites.
    SequenceCaution:
    • Sequence=CAA36839.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for CALM3 Gene

Post-translational modifications for CALM3 Gene

No data available for DME Specific Peptides for CALM3 Gene

Domains & Families for CALM3 Gene

Gene Families for CALM3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for CALM3 Gene

Suggested Antigen Peptide Sequences for CALM3 Gene

Graphical View of Domain Structure for InterPro Entry

P0DP25

UniProtKB/Swiss-Prot:

CALM3_HUMAN :
  • Belongs to the calmodulin family.
Family:
  • Belongs to the calmodulin family.
genes like me logo Genes that share domains with CALM3: view

Function for CALM3 Gene

Molecular function for CALM3 Gene

GENATLAS Biochemistry:
calmodulin 3,calcium modulated protein
UniProtKB/Swiss-Prot Function:
Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis.

Phenotypes From GWAS Catalog for CALM3 Gene

Gene Ontology (GO) - Molecular Function for CALM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding ISS,IDA 7607248
GO:0005515 protein binding IPI --
GO:0016301 kinase activity IEA --
GO:0019901 protein kinase binding IPI 20668654
GO:0031432 titin binding IPI 7607248
genes like me logo Genes that share ontologies with CALM3: view
genes like me logo Genes that share phenotypes with CALM3: view

Human Phenotype Ontology for CALM3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CALM3 Gene

miRTarBase miRNAs that target CALM3

Clone Products

  • Addgene plasmids for CALM3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CALM3 Gene

Localization for CALM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CALM3 Gene

Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Distributed throughout the cell during interphase, but during mitosis becomes dramatically localized to the spindle poles and the spindle microtubules.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CALM3 gene
Compartment Confidence
plasma membrane 3
extracellular 3
cytoskeleton 3
nucleus 3
endoplasmic reticulum 3
cytosol 3
mitochondrion 2
lysosome 2
golgi apparatus 2
endosome 1

Gene Ontology (GO) - Cellular Components for CALM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005737 cytoplasm IEA --
GO:0005819 spindle IEA --
GO:0005856 cytoskeleton IEA --
GO:0008076 voltage-gated potassium channel complex IEA --
genes like me logo Genes that share ontologies with CALM3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CALM3 Gene

Pathways & Interactions for CALM3 Gene

SuperPathways for CALM3 Gene

SuperPathway Contained pathways
1 RET signaling
2 DAG and IP3 signaling
3 Post NMDA receptor activation events
4 Development Angiotensin activation of ERK
5 Development Endothelin-1/EDNRA signaling
genes like me logo Genes that share pathways with CALM3: view

Interacting Proteins for CALM3 Gene

SIGNOR curated interactions for CALM3 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CALM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle IEA --
GO:0002027 regulation of heart rate IMP 23040497
GO:0005513 detection of calcium ion IMP 23040497
GO:0010800 positive regulation of peptidyl-threonine phosphorylation TAS 20668654
GO:0010801 negative regulation of peptidyl-threonine phosphorylation TAS 20668654
genes like me logo Genes that share ontologies with CALM3: view

Drugs & Compounds for CALM3 Gene

(2) Drugs for CALM3 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Citrate Approved Pharma Target, agonist 0
Calcium Phosphate Approved Pharma Target, agonist 0
genes like me logo Genes that share compounds with CALM3: view

Transcripts for CALM3 Gene

Unigene Clusters for CALM3 Gene

Calmodulin 3 (phosphorylase kinase, delta):
Representative Sequences:

Clone Products

  • Addgene plasmids for CALM3

Alternative Splicing Database (ASD) splice patterns (SP) for CALM3 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9
SP1: - - - -
SP2: - - -
SP3: - - - - -
SP4: - - -
SP5: - - -
SP6: - - - -
SP7: - - - - - - -
SP8: - - -
SP9:
SP10:
SP11:
SP12:

Relevant External Links for CALM3 Gene

GeneLoc Exon Structure for
CALM3
ECgene alternative splicing isoforms for
CALM3

Expression for CALM3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CALM3 Gene

mRNA differential expression in normal tissues according to GTEx for CALM3 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.4) and Brain - Anterior cingulate cortex (BA24) (x4.1).

Protein differential expression in normal tissues from HIPED for CALM3 Gene

This gene is overexpressed in Lavage (13.7), Bone (10.1), and Brain (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CALM3 Gene



Protein tissue co-expression partners for CALM3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CALM3 Gene:

CALM3

SOURCE GeneReport for Unigene cluster for CALM3 Gene:

Hs.515487

Evidence on tissue expression from TISSUES for CALM3 Gene

  • Nervous system(5)
  • Kidney(4.6)
  • Lung(4.4)
  • Intestine(4.2)
  • Liver(4)
  • Blood(3.9)
  • Eye(3.9)
  • Muscle(3.9)
  • Heart(3.7)
  • Skin(3.5)
  • Pancreas(3.2)
  • Stomach(2.9)
  • Adrenal gland(2.7)
  • Spleen(2.7)
  • Bone(2.6)
  • Thyroid gland(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CALM3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns with CALM3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CALM3 Gene

Orthologs for CALM3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CALM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CALM3 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia CALM3 34
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 100 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Calm3 34
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CALM 33 34
  • 81.88 (n)
chicken
(Gallus gallus)
Aves CALM1 33
  • 82.55 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 100 (a)
ManyToMany
-- 34
  • 99 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii calm1a 34
  • 100 (a)
ManyToMany
calm1b 34
  • 100 (a)
ManyToMany
calm2a 34
  • 100 (a)
ManyToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Cam 35 34
  • 96 (a)
And 35
  • 65 (a)
CG11165 35
  • 52 (a)
Mlc-c 35
  • 45 (a)
TpnC41C 35
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea cmd-1 35 34
  • 96 (a)
cal-6 34
  • 76 (a)
ManyToMany
Y73B3A.12 35
  • 74 (a)
cal-1 35
  • 66 (a)
cal-2 35
  • 63 (a)
cal-4 35
  • 58 (a)
cal-3 35
  • 57 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CMD1 36
thale cress
(Arabidopsis thaliana)
eudicotyledons CAM7 33
  • 78.08 (n)
rice
(Oryza sativa)
Liliopsida Os01g0267900 33
  • 79.42 (n)
Os.10290 33
corn
(Zea mays)
Liliopsida Zm.176 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10340 34
  • 97 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU04120 33
  • 76.06 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cam1 33
  • 67.59 (n)
Species where no ortholog for CALM3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CALM3 Gene

ENSEMBL:
Gene Tree for CALM3 (if available)
TreeFam:
Gene Tree for CALM3 (if available)

Paralogs for CALM3 Gene

Variants for CALM3 Gene

Sequence variations from dbSNP and Humsavar for CALM3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs3729761 Likely benign 46,608,486(+) GGGAA(C/T)GGGAC nc-transcript-variant, reference, synonymous-codon
rs34089805 Benign 46,608,504(+) TTCCC(A/G)GAGTT nc-transcript-variant, reference, synonymous-codon
rs35617141 Benign 46,608,950(+) GCTGA(C/T)ATCGA nc-transcript-variant, reference, synonymous-codon
rs1000080684 -- 46,609,987(+) TGAGG(C/G)CCCGT downstream-variant-500B, upstream-variant-2KB, utr-variant-3-prime
rs1000300672 -- 46,604,132(+) TCTCT(G/T)TTCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CALM3 Gene

Variant ID Type Subtype PubMed ID
nsv953589 CNV deletion 24416366
nsv833849 CNV loss 17160897
esv3352253 CNV duplication 20981092

Variation tolerance for CALM3 Gene

Residual Variation Intolerance Score: 45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CALM3 Gene

Human Gene Mutation Database (HGMD)
CALM3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CALM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CALM3 Gene

Disorders for CALM3 Gene

MalaCards: The human disease database

(25) MalaCards diseases for CALM3 Gene - From: HGMD, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome 1
  • long qt syndrome 1, acquired
catecholaminergic polymorphic ventricular tachycardia
  • ventricular tachycardia, catecholaminergic polymorphic, 1
otomycosis
  • singapore ear
external ear disease
  • preauricular cyst
cardiomyopathy, dilated, 1p
  • dilated cardiomyopathy 1p
- elite association - COSMIC cancer census association via MalaCards
Search CALM3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CALM3_HUMAN
  • Note=Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare condition caused by mutation in CALM3 that lead to an arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. {ECO:0000269 PubMed:27516456}.

Relevant External Links for CALM3

Genetic Association Database (GAD)
CALM3
Human Genome Epidemiology (HuGE) Navigator
CALM3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CALM3
genes like me logo Genes that share disorders with CALM3: view

No data available for Genatlas for CALM3 Gene

Publications for CALM3 Gene

  1. Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. (PMID: 27516456) Gomez-Hurtado N … Knollmann BC (Circulation. Arrhythmia and electrophysiology 2016) 3 4 60
  2. Crystal structure of calmodulin binding domain of orai1 in complex with Ca2+ calmodulin displays a unique binding mode. (PMID: 23109337) Liu Y … Birnbaumer L (The Journal of biological chemistry 2012) 3 4 60
  3. Distinct and separable activities of the endocytic clathrin-coat components Fcho1/2 and AP-2 in developmental patterning. (PMID: 22484487) Umasankar PK … Traub LM (Nature cell biology 2012) 3 4 60
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  5. Conserved motif of CDK5RAP2 mediates its localization to centrosomes and the Golgi complex. (PMID: 20466722) Wang Z … Qi RZ (The Journal of biological chemistry 2010) 3 4 60

Products for CALM3 Gene

  • Addgene plasmids for CALM3