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, a... See more...

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
  • Calreticulin-3 3 4
  • CRT2 3 4
  • Testis Secretory Sperm-Binding Protein Li 226n 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 Hypertrophic Cardiomyopathy and In Situ Pulmonary Adenocarcinoma. Gene Ontology (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 Summary 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.

Additional gene information for CALR3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CALR3 Gene

Genomics for CALR3 Gene

GeneHancer (GH) Regulatory Elements for CALR3 Gene

Promoters and enhancers for CALR3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J016495 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.3 -304 2.2 ZBTB40 ZNF217 SIN3A NRF1 POLR2G USF1 SP1 PHF8 SIX5 ZNF639 C19orf44 CALR3 CHERP ENSG00000268743 lnc-CALR3-4 ENSG00000141979
GH19J016485 Promoter 0.3 EPDnew 500.4 +10.9 10905 0.1 FJ601684-220 RF00017-2866 lnc-EPS15L1-1 piR-43105-330 CALR3 ENSG00000141979
GH19J016611 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 12.8 -115.9 -115854 1.7 CTCF CEBPG JUND ZFHX2 ZNF654 FOXP2 VEZF1 RAD21 RXRA HNF4A ENSG00000268087 ENSG00000279977 C19orf44 CALR3 SLC35E1 CHERP RN7SL146P SMIM7 TMEM38A EPS15L1
GH19J016607 Enhancer 1 ENCODE dbSUPER 12.8 -112.1 -112052 1.5 ZSCAN5C ZNF639 ATF2 OSR2 ZBTB17 PBX2 SPI1 JUND EZH2 IKZF3 C19orf44 EPS15L1 MED26 CALR3 SLC35E1 SMIM7 TMEM38A CHERP RN7SL146P CPAMD8
GH19J016492 Enhancer 1.1 Ensembl ENCODE 0.7 +2.9 2927 1.5 TCF12 POLR2G NCOR1 KDM6A TCF7 ZBTB25 TGIF2 TEAD1 ZKSCAN8 CTBP1 C19orf44 RN7SL146P CHERP CPAMD8 EPS15L1 CALR3 piR-43105-330 ENSG00000141979
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CALR3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CALR3

Top Transcription factor binding sites by QIAGEN in the CALR3 gene promoter:
  • aMEF-2
  • AP-1
  • MEF-2
  • MEF-2A
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Pax-4a
  • POU2F1
  • POU2F1a

Genomic Locations for CALR3 Gene

Genomic Locations for CALR3 Gene
chr19:16,479,057-16,496,192
(GRCh38/hg38)
Size:
17,136 bases
Orientation:
Minus strand
chr19:16,589,868-16,607,003
(GRCh37/hg19)
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 Asn201
  • 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

Gene Families for CALR3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CALR3 Gene

Suggested Antigen Peptide Sequences for CALR3 Gene

GenScript: Design optimal peptide antigens:
  • Calreticulin-2 (CALR3_HUMAN)
  • Calreticulin 3 (D9N574_HUMAN)

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

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.

Phenotypes From GWAS Catalog for CALR3 Gene

Gene Ontology (GO) - Molecular Function for CALR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 NOT calcium ion binding IDA 21590275
GO:0005515 protein binding IEA --
GO:0030246 carbohydrate binding IEA --
GO:0044183 protein binding involved in protein folding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CALR3: view
genes like me logo Genes that share phenotypes with CALR3: view

Animal Models for CALR3 Gene

MGI Knock Outs for CALR3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CALR3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
nucleus 5
endoplasmic reticulum 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CALR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IDA 21590275
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA,IDA 21590275
GO:0005789 endoplasmic reticulum membrane IBA 21873635
genes like me logo Genes that share ontologies with CALR3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CALR3 Gene

Pathways & Interactions for CALR3 Gene

PathCards logo

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,IBA 21873635
GO:0007283 spermatogenesis IEA --
GO:0008150 biological_process ND --
GO:0030154 cell differentiation IEA --
GO:0030968 endoplasmic reticulum unfolded protein response IBA 21873635
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

(4) Drugs for CALR3 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Citrate Approved, Investigational Pharma Target, ligand 0
Calcium Phosphate Approved Pharma Target, ligand 0
Calcium phosphate dihydrate Approved Pharma Target 0
Calcium Approved Nutra 7884
genes like me logo Genes that share compounds with CALR3: view

Transcripts for CALR3 Gene

mRNA/cDNA for CALR3 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CALR3

Clone 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

Expression for CALR3 Gene

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



Protein tissue co-expression partners for CALR3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
genes like me logo Genes that share expression patterns with CALR3: view

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 31 30
  • 99.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CALR3 31 30
  • 86.02 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CALR3 31 30
  • 84.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Calr3 17 31 30
  • 81.71 (n)
rat
(Rattus norvegicus)
Mammalia Calr3 30
  • 80.95 (n)
oppossum
(Monodelphis domestica)
Mammalia CALR3 31
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CALR3 31
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves CALR3 31
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CALR3 31
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii calrl 31
  • 45 (a)
OneToMany
calr 31
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Crc 31
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea crt-1 31
  • 42 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CNE1 31
  • 17 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.9213 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10660 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CALR3: view image

Paralogs for CALR3 Gene

Paralogs for CALR3 Gene

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

  • CALR3_HUMAN
  • M0R0Y8_HUMAN

Pseudogenes.org Pseudogenes for CALR3 Gene

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

Variants for CALR3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CALR3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
639436 Uncertain Significance: Familial hypertrophic cardiomyopathy 19 16,483,982(-) G/A MISSENSE_VARIANT
639655 Uncertain Significance: Familial hypertrophic cardiomyopathy 19 16,490,408(-) T/C MISSENSE_VARIANT
647084 Uncertain Significance: Familial hypertrophic cardiomyopathy 19 16,479,192(-) G/A MISSENSE_VARIANT
647478 Uncertain Significance: Familial hypertrophic cardiomyopathy 19 16,484,116(-) C/T SPLICE_ACCEPTOR_VARIANT
648728 Uncertain Significance: Familial hypertrophic cardiomyopathy 19 16,496,114(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CALR3 Gene

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)

Additional Variant Information for CALR3 Gene

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

SNP Genotyping and Copy Number Assay Products

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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hypertrophic cardiomyopathy
  • cardiomyopathy, hypertrophic, familial
in situ pulmonary adenocarcinoma
  • bronchioalveolar carcinoma
restrictive cardiomyopathy
  • rcm
arrhythmogenic right ventricular cardiomyopathy
  • arrhythmogenic right ventricular dysplasia
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards
Search CALR3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CALR3

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

No data available for UniProtKB/Swiss-Prot and 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 23 54
  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 (Histochemistry and cell biology 2011) 3 4 54
  3. Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. (PMID: 17655857) Chiu C … Semsarian C (Journal of molecular and cellular cardiology 2007) 4 23 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for CALR3 Gene

Sources for CALR3 Gene