Human Gene CALR3 (uc002ned.3)
  Description: Homo sapiens calreticulin 3 (CALR3), mRNA.
RefSeq Summary (NM_145046): 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].
Transcript (Including UTRs)
   Position: hg19 chr19:16,589,868-16,607,003 Size: 17,136 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr19:16,589,942-16,606,940 Size: 16,999 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:16,589,868-16,607,003)mRNA (may differ from genome)Protein (384 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
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MGIneXtProtOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CALR3_HUMAN
DESCRIPTION: RecName: Full=Calreticulin-3; AltName: Full=Calreticulin-2; AltName: Full=Calsperin; Flags: Precursor;
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.
SUBUNIT: Component of an EIF2 complex at least composed of CELF1/CUGBP1, CALR, CALR3, EIF2S1, EIF2S2, HSP90B1 and HSPA5 (By similarity).
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen.
TISSUE SPECIFICITY: Testis specific.
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).
DOMAIN: The interaction with glycans occurs through a binding site in the globular lectin domain (By similarity).
DOMAIN: The zinc binding sites are localized to the N-domain (By similarity).
DISEASE: Defects in CALR3 are the cause of familial hypertrophic cardiomyopathy type 19 (CMH19) [MIM:613875]. CMH19 is 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.
SIMILARITY: Belongs to the calreticulin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CALR3
Diseases sorted by gene-association score: cardiomyopathy, hypertrophic, 19* (850), calr3-related familial hypertrophic cardiomyopathy* (100), cardiomyopathy, familial hypertrophic (7), cardiomyopathy (6), cecal disease (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 51.06 RPKM in Testis
Total median expression: 51.11 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -26.5063-0.421 Picture PostScript Text
3' UTR -8.1074-0.109 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001580 - Calret/calnex
IPR018124 - Calret/calnex_CS
IPR009169 - Calreticulin
IPR009033 - Calreticulin/calnexin_P
IPR008985 - ConA-like_lec_gl_sf
IPR013320 - ConA-like_subgrp

Pfam Domains:
PF00262 - Calreticulin family

SCOP Domains:
63887 - P-domain of calnexin/calreticulin
49899 - Concanavalin A-like lectins/glucanases

ModBase Predicted Comparative 3D Structure on Q96L12
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0030246 carbohydrate binding
GO:0044183 protein binding involved in protein folding
GO:0046872 metal ion binding
GO:0051082 unfolded protein binding
GO:0005509 calcium ion binding

Biological Process:
GO:0006457 protein folding
GO:0007283 spermatogenesis
GO:0008150 biological_process
GO:0030154 cell differentiation

Cellular Component:
GO:0005635 nuclear envelope
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen


-  Descriptions from all associated GenBank mRNAs
  BC068564 - Homo sapiens cDNA clone IMAGE:30342277, **** WARNING: chimeric clone ****.
HM005344 - Homo sapiens clone HTL-T-31 testis secretory sperm-binding protein Li 226n mRNA, complete cds.
BC014595 - Homo sapiens calreticulin 3, mRNA (cDNA clone MGC:26577 IMAGE:4822010), complete cds.
AK058084 - Homo sapiens cDNA FLJ25355 fis, clone TST01593.
AB576176 - Homo sapiens mRNA for calreticulin 2, complete cds.
DQ890903 - Synthetic construct clone IMAGE:100003533; FLH166942.01X; RZPDo839F0488D calreticulin 3 (CALR3) gene, encodes complete protein.
KJ900100 - Synthetic construct Homo sapiens clone ccsbBroadEn_09494 CALR3 gene, encodes complete protein.
KR709480 - Synthetic construct Homo sapiens clone CCSBHm_00002596 CALR3 (CALR3) mRNA, encodes complete protein.
KR709481 - Synthetic construct Homo sapiens clone CCSBHm_00002597 CALR3 (CALR3) mRNA, encodes complete protein.
DQ894056 - Synthetic construct Homo sapiens clone IMAGE:100008516; FLH166938.01L; RZPDo839F0487D calreticulin 3 (CALR3) gene, encodes complete protein.
CU677059 - Synthetic construct Homo sapiens gateway clone IMAGE:100019179 5' read CALR3 mRNA.
JD119636 - Sequence 100660 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: CALR3_HUMAN, CRT2, D9N574, NM_145046, NP_659483, Q96L12, Q96LN3, uc002ned.2
UCSC ID: uc002ned.3
RefSeq Accession: NM_145046
Protein: Q96L12 (aka CALR3_HUMAN)
CCDS: CCDS12344.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CALR3:
hyper-card (Hypertrophic Cardiomyopathy Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_145046.4
exon count: 9CDS single in 3' UTR: no RNA size: 1295
ORF size: 1155CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1785.00frame shift in genome: no % Coverage: 99.77
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.