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Aliases for CALR3 Gene

Aliases for CALR3 Gene

  • Calreticulin 3 2 3 5
  • Calsperin 2 3 4
  • Cancer/Testis Antigen 93 2 3
  • Calreticulin-2 3 4
  • CRT2 3 4
  • Testis Secretory Sperm-Binding Protein Li 226n 3
  • Calreticulin-3 3
  • CMH19 3
  • CT93 3

External Ids for CALR3 Gene

Previous GeneCards Identifiers for CALR3 Gene

  • GC19M016982
  • GC19M016435
  • GC19M016589
  • GC19M016158

Summaries for CALR3 Gene

Entrez Gene Summary for CALR3 Gene

  • The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]

GeneCards Summary for CALR3 Gene

CALR3 (Calreticulin 3) is a Protein Coding gene. Diseases associated with CALR3 include Cardiomyopathy, Hypertrophic, 19 and Calr3-Related Familial Hypertrophic Cardiomyopathy. GO annotations related to this gene include calcium ion binding and unfolded protein binding. An important paralog of this gene is CALR.

UniProtKB/Swiss-Prot for CALR3 Gene

  • During spermatogenesis, may act as a lectin-independent chaperone for specific client proteins such as ADAM3. Required for sperm fertility (By similarity). CALR3 capacity for calcium-binding may be absent or much lower than that of CALR.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CALR3 Gene

Genomics for CALR3 Gene

Regulatory Elements for CALR3 Gene

Enhancers for CALR3 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
GH19G016607 1.4 Ensembl ENCODE dbSUPER 12.8 -112.2 -112163 1.7 HDGF PKNOX1 ARNT INSM2 FEZF1 BMI1 ZNF2 RAD21 ZNF366 ZSCAN5C C19orf44 EPS15L1 MED26 CALR3 SLC35E1 SMIM7 TMEM38A RN7SL146P CHERP CPAMD8
GH19G016611 1.2 Ensembl ENCODE dbSUPER 12.8 -115.9 -115855 1.7 CTCF ZNF654 USF2 CEBPG RAD21 ATF2 FOXA1 GABPA ZFHX2 RAD51 C19orf44 CALR3 SLC35E1 CHERP RN7SL146P TMEM38A SMIM7 EPS15L1 CPAMD8 ENSG00000269044
GH19G016492 1 ENCODE 0.7 +3.3 3271 0.8 FOXA2 MLX ARID4B ZNF48 YY1 FOS SP5 PPARG KAT8 SREBF1 CHERP RN7SL146P CPAMD8 EPS15L1 CALR3
GH19G016489 0.9 ENCODE 0.4 +7.0 7038 0.1 FOXA2 MLX NFIB ZFP64 FEZF1 THRB ZNF48 RARA YY1 ZSCAN5C C19orf44 CHERP RN7SL146P ENSG00000269578 ENSG00000268743 CPAMD8 CALR3 EPS15L1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CALR3 on UCSC Golden Path with GeneCards custom track

Promoters for CALR3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000107764 -109 1400 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766

Genomic Location for CALR3 Gene

Chromosome:
19
Start:
16,479,057 bp from pter
End:
16,496,192 bp from pter
Size:
17,136 bases
Orientation:
Minus strand

Genomic View for CALR3 Gene

Genes around CALR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CALR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CALR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CALR3 Gene

Proteins for CALR3 Gene

  • Protein details for CALR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96L12-CALR3_HUMAN
    Recommended name:
    Calreticulin-3
    Protein Accession:
    Q96L12
    Secondary Accessions:
    • D9N574
    • Q96LN3

    Protein attributes for CALR3 Gene

    Size:
    384 amino acids
    Molecular mass:
    44996 Da
    Quaternary structure:
    • Component of an EIF2 complex at least composed of CELF1/CUGBP1, CALR, CALR3, EIF2S1, EIF2S2, HSP90B1 and HSPA5.

neXtProt entry for CALR3 Gene

Post-translational modifications for CALR3 Gene

  • Glycosylation at Asn42 and posLast=201201
  • Modification sites at PhosphoSitePlus

Other Protein References for CALR3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CALR3 Gene

Domains & Families for CALR3 Gene

Suggested Antigen Peptide Sequences for CALR3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96L12

UniProtKB/Swiss-Prot:

CALR3_HUMAN :
  • Can be divided into a N-terminal globular domain, a proline-rich P-domain forming an elongated arm-like structure and a C-terminal acidic domain. The P-domain binds one molecule of calcium with high affinity, whereas the acidic C-domain binds multiple calcium ions with low affinity (By similarity).
  • Belongs to the calreticulin family.
Domain:
  • Can be divided into a N-terminal globular domain, a proline-rich P-domain forming an elongated arm-like structure and a C-terminal acidic domain. The P-domain binds one molecule of calcium with high affinity, whereas the acidic C-domain binds multiple calcium ions with low affinity (By similarity).
  • The interaction with glycans occurs through a binding site in the globular lectin domain.
  • The zinc binding sites are localized to the N-domain.
Family:
  • Belongs to the calreticulin family.
genes like me logo Genes that share domains with CALR3: view

No data available for Gene Families for CALR3 Gene

Function for CALR3 Gene

Molecular function for CALR3 Gene

UniProtKB/Swiss-Prot Function:
During spermatogenesis, may act as a lectin-independent chaperone for specific client proteins such as ADAM3. Required for sperm fertility (By similarity). CALR3 capacity for calcium-binding may be absent or much lower than that of CALR.

Gene Ontology (GO) - Molecular Function for CALR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0030246 carbohydrate binding IEA --
GO:0044183 protein binding involved in protein folding IEA --
GO:0046872 metal ion binding IEA --
GO:0051082 unfolded protein binding IEA --
genes like me logo Genes that share ontologies with CALR3: view

Phenotypes for CALR3 Gene

genes like me logo Genes that share phenotypes with CALR3: view

Human Phenotype Ontology for CALR3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CALR3 Gene

MGI Knock Outs for CALR3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for CALR3 Gene

Localization for CALR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CALR3 Gene

Endoplasmic reticulum lumen.

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 CALR3 gene
Compartment Confidence
endoplasmic reticulum 4

Gene Ontology (GO) - Cellular Components for CALR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA --
genes like me logo Genes that share ontologies with CALR3: view

Pathways & Interactions for CALR3 Gene

SuperPathways for CALR3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CALR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with CALR3: view

No data available for Pathways by source and SIGNOR curated interactions for CALR3 Gene

Drugs & Compounds for CALR3 Gene

(1) Drugs for CALR3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with CALR3: view

Transcripts for CALR3 Gene

mRNA/cDNA for CALR3 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(17) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CALR3 Gene

Calreticulin 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CALR3 Gene

No ASD Table

Relevant External Links for CALR3 Gene

GeneLoc Exon Structure for
CALR3
ECgene alternative splicing isoforms for
CALR3

Expression for CALR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CALR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CALR3 Gene

This gene is overexpressed in Testis (x52.2).

Protein differential expression in normal tissues from HIPED for CALR3 Gene

This gene is overexpressed in Adipocyte (30.7), Testis (28.6), and Ovary (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CALR3 Gene



Protein tissue co-expression partners for CALR3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CALR3 Gene:

CALR3

SOURCE GeneReport for Unigene cluster for CALR3 Gene:

Hs.304020

mRNA Expression by UniProt/SwissProt for CALR3 Gene:

Q96L12-CALR3_HUMAN
Tissue specificity: Testis specific.

Evidence on tissue expression from TISSUES for CALR3 Gene

  • Liver(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CALR3 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Organs:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
genes like me logo Genes that share expression patterns with CALR3: view

Primer Products

Orthologs for CALR3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CALR3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CALR3 34 35
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia CALR3 34 35
  • 86.02 (n)
cow
(Bos Taurus)
Mammalia CALR3 34 35
  • 84.6 (n)
mouse
(Mus musculus)
Mammalia Calr3 34 16 35
  • 81.71 (n)
rat
(Rattus norvegicus)
Mammalia Calr3 34
  • 80.95 (n)
oppossum
(Monodelphis domestica)
Mammalia CALR3 35
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CALR3 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves CALR3 35
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CALR3 35
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii calr 35
  • 45 (a)
OneToMany
calrl 35
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Crc 35
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea crt-1 35
  • 42 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CNE1 35
  • 17 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.9213 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10660 35
  • 39 (a)
OneToMany
Species where no ortholog for CALR3 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)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CALR3 Gene

ENSEMBL:
Gene Tree for CALR3 (if available)
TreeFam:
Gene Tree for CALR3 (if available)

Paralogs for CALR3 Gene

Paralogs for CALR3 Gene

(1) SIMAP similar genes for CALR3 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for CALR3 Gene

genes like me logo Genes that share paralogs with CALR3: view

Variants for CALR3 Gene

Sequence variations from dbSNP and Humsavar for CALR3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs142951029 Pathogenic, Cardiomyopathy, familial hypertrophic 19 (CMH19) [MIM:613875] 16,490,519(+) ACGGT(C/T)TGAAG reference, missense
rs775009764 Likely benign 16,482,684(+) TGGTA(A/C/T)GGGGG reference, synonymous-codon
rs182376945 Uncertain significance 16,490,549(+) ATCGG(C/T)CATTC reference, missense
rs201304731 Uncertain significance 16,495,755(+) CCTTT(A/C)TCTTT upstream-variant-2KB, reference, missense
rs368506422 Uncertain significance 16,496,063(+) TTGGA(A/T)ATAGA upstream-variant-2KB, reference, missense

Variation tolerance for CALR3 Gene

Residual Variation Intolerance Score: 36.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.02; 37.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CALR3 Gene

Human Gene Mutation Database (HGMD)
CALR3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CALR3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CALR3 Gene

Disorders for CALR3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CALR3 Gene - From: OMIM, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, hypertrophic, 19
  • hypertrophic cardiomyopathy 19
calr3-related familial hypertrophic cardiomyopathy
  • cmh19
cardiomyopathy, familial hypertrophic
  • cardiomyopathy, hypertrophic, 1
cecal disease
  • disorder of cecum
cardiomyopathy
  • cardiomyopathies
- elite association - COSMIC cancer census association via MalaCards
Search CALR3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CALR3_HUMAN
  • Cardiomyopathy, familial hypertrophic 19 (CMH19) [MIM:613875]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:17655857}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CALR3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CALR3
genes like me logo Genes that share disorders with CALR3: view

No data available for Genatlas for CALR3 Gene

Publications for CALR3 Gene

  1. Identification of a novel calreticulin isoform (Crt2) in human and mouse. (PMID: 12384296) Persson S. … Sommarin M. (Gene 2002) 2 3 4 22 64
  2. Calreticulin-2 is localized in the lumen of the endoplasmic reticulum but is not a Ca2+ -binding protein. (PMID: 21590275) Nomura R. … Senda T. (Histochem. Cell Biol. 2011) 3 4 64
  3. Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. (PMID: 17655857) Chiu C. … Semsarian C. (J. Mol. Cell. Cardiol. 2007) 4 22 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for CALR3 Gene

Sources for CALR3 Gene

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