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Aliases for CALM3 Gene

Aliases for CALM3 Gene

  • Calmodulin 3 (Phosphorylase Kinase, Delta) 2 3 5
  • Prepro-Calmodulin 3 2 3
  • CaM 3 4
  • Epididymis Secretory Protein Li 72 3
  • CALM1 CALM2 CALM3 4
  • HEL-S-72 3
  • CALML2 4
  • CAMIII 4
  • PHKD3 3
  • PHKD 3
  • CALM 4
  • CAM1 4
  • CAM2 4
  • CAM3 4
  • CAMB 4
  • CAMC 4

External Ids for CALM3 Gene

Previous GeneCards Identifiers for CALM3 Gene

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

Summaries for CALM3 Gene

GeneCards Summary for CALM3 Gene

CALM3 (Calmodulin 3 (Phosphorylase Kinase, Delta)) is a Protein Coding gene. Diseases associated with CALM3 include long qt syndrome 15 and congenital heart block. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include calcium ion binding and protein domain specific binding. An important paralog of this gene is CABP2.

UniProtKB/Swiss-Prot for CALM3 Gene

  • Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins by Ca(2+). Among the enzymes to be stimulated by the calmodulin-Ca(2+) 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

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

Genomics for CALM3 Gene

Regulatory Elements for CALM3 Gene

Promoters for CALM3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CALM3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CALM3 Gene

Chromosome:
19
Start:
46,601,074 bp from pter
End:
46,610,793 bp from pter
Size:
9,720 bases
Orientation:
Plus strand

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:
    P62158-CALM_HUMAN
    Recommended name:
    Calmodulin
    Protein Accession:
    P62158
    Secondary Accessions:
    • P02593
    • 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 (PubMed:21167176). Interacts with RYR1 and RYR2 (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 (PubMed:23893133). 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 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 (PubMed:21167176). Interacts with RYR1 and RYR2 (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 (PubMed:23893133). 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 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 (PubMed:21167176). Interacts with RYR1 and RYR2 (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 (PubMed:23893133). 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).
    Miscellaneous:
    • This protein has four functional calcium-binding sites.
    SequenceCaution:
    • Sequence=CAA36839.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CALM3 Gene

neXtProt entry for CALM3 Gene

Proteomics data for CALM3 Gene at MOPED

Post-translational modifications for CALM3 Gene

Other Protein References for CALM3 Gene

Antibody Products

No data available for DME Specific Peptides for CALM3 Gene

Domains & Families for CALM3 Gene

Gene Families for CALM3 Gene

Protein Domains for CALM3 Gene

Suggested Antigen Peptide Sequences for CALM3 Gene

Graphical View of Domain Structure for InterPro Entry

P62158

UniProtKB/Swiss-Prot:

CALM_HUMAN :
  • Contains 4 EF-hand domains.
  • Belongs to the calmodulin family.
Domain:
  • Contains 4 EF-hand domains.
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 by Ca(2+). Among the enzymes to be stimulated by the calmodulin-Ca(2+) 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 Ontology (GO) - Molecular Function for CALM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0048306 calcium-dependent protein binding IEA --
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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
Jensen Localization Image for CALM3 Gene COMPARTMENTS Subcellular localization image for CALM3 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
plasma membrane 5
cytosol 4
chloroplast 1

Gene Ontology (GO) - Cellular Components for CALM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005886 plasma membrane TAS 10899953
GO:0031982 vesicle IDA 19190083
genes like me logo Genes that share ontologies with CALM3: view

Pathways & Interactions for CALM3 Gene

SuperPathways for CALM3 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF 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

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:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0001975 response to amphetamine IEA --
GO:0002576 platelet degranulation TAS --
GO:0005975 carbohydrate metabolic process TAS --
genes like me logo Genes that share ontologies with CALM3: view

Drugs & Compounds for CALM3 Gene

No Compound Related Data Available

Transcripts for CALM3 Gene

Unigene Clusters for CALM3 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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 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



SOURCE GeneReport for Unigene cluster for CALM3 Gene Hs.515487

genes like me logo Genes that share expression patterns with CALM3: view

Protein tissue co-expression partners for CALM3 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 35
  • 100 (n)
  • 100 (a)
CALM3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CALM 36
  • 100 (a)
OneToOne
CALM 35
  • 81.88 (n)
  • 98.66 (a)
dog
(Canis familiaris)
Mammalia CALM3 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Calm3 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 100 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CALM1 35
  • 82.55 (n)
  • 99.33 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 99 (a)
ManyToMany
-- 36
  • 100 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii calm1a 36
  • 100 (a)
ManyToMany
calm1b 36
  • 100 (a)
ManyToMany
calm2a 36
  • 100 (a)
ManyToMany
-- 35
fruit fly
(Drosophila melanogaster)
Insecta And 37
  • 65 (a)
Cam 37
  • 96 (a)
CG11165 37
  • 52 (a)
Mlc-c 37
  • 45 (a)
TpnC41C 37
  • 44 (a)
Cam 36
  • 98 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cal-1 37
  • 66 (a)
cal-2 37
  • 63 (a)
cal-3 37
  • 57 (a)
cal-4 37
  • 58 (a)
cmd-1 37
  • 96 (a)
Y73B3A.12 37
  • 74 (a)
cal-6 36
  • 76 (a)
ManyToMany
cmd-1 36
  • 98 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CMD1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons CAM7 35
  • 78.08 (n)
  • 89.93 (a)
corn
(Zea mays)
Liliopsida Zm.176 35
rice
(Oryza sativa)
Liliopsida Os.10290 35
Os01g0267900 35
  • 79.42 (n)
  • 90.6 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04120 35
  • 76.06 (n)
  • 85.23 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cam1 35
  • 67.59 (n)
  • 76.55 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10340 36
  • 97 (a)
OneToMany
Species with no ortholog for CALM3:
  • 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

genes like me logo Genes that share paralogs with CALM3: view

Variants for CALM3 Gene

Sequence variations from dbSNP and Humsavar for CALM3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10113 -- 46,609,391(+) ATCCA(C/T)GTCTT utr-variant-3-prime
rs4380146 -- 46,603,377(+) CACTG(G/T)TAACT intron-variant
rs3729759 -- 46,608,388(+) CCCGA(A/C/G)TGACT intron-variant
rs3729760 -- 46,608,406(+) GCCTC(C/T)CTCAG intron-variant
rs3729761 -- 46,608,486(+) GGGAA(C/T)GGGAC reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv833849 CNV Loss 17160897
dgv3961n71 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
CALM3
Human Gene Mutation Database (HGMD)
CALM3

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

Disorders for CALM3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CALM3 Gene - From: GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome 15
  • lqts 15
congenital heart block
  • heart block congenital
sudden cardiac death
  • death sudden cardiac
long qt syndrome 14
  • lqt14
catecholaminergic polymorphic ventricular tachycardia
  • ventricular tachycardia, catecholaminergic polymorphic, 1
- elite association - COSMIC cancer census association via MalaCards
Search CALM3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CALM_HUMAN
  • Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916]: 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:23040497}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Long QT syndrome 14 (LQT14) [MIM:616247]: A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:23388215, ECO:0000269 PubMed:24076290}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in CALM1 are the cause of LQT14.
  • Long QT syndrome 15 (LQT15) [MIM:616249]: A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:23388215, ECO:0000269 PubMed:24917665}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in CALM2 are the cause of LQT15.

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. Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. (PMID: 23040497) Nyegaard M. … Borglum A.D. (Am. J. Hum. Genet. 2012) 3 4 67
  2. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. (PMID: 25737280) Murn J. … Shi Y. (Genes Dev. 2015) 3
  3. CALM3 mutation associated with long QT syndrome. (PMID: 25460178) Reed G.J. … Ackerman M.J. (Heart Rhythm 2015) 3
  4. The mammalian-membrane two-hybrid assay (MaMTH) for probing membrane-protein interactions in human cells. (PMID: 24658140) Petschnigg J. … Stagljar I. (Nat. Methods 2014) 3
  5. The individual N- and C-lobes of calmodulin tether to the Cav1.2 channel and rescue the channel activity from run-down in ventricular myocytes of guinea-pig heart. (PMID: 25268113) Shao D. … Hao L. (FEBS Lett. 2014) 3

Products for CALM3 Gene

Sources for CALM3 Gene

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