CALR3 (calreticulin 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
125972
Gene name Gene Name - the full gene name approved by the HGNC.
Calreticulin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CALR3
Synonyms (NCBI Gene) Gene synonyms aliases
CMH19, CRT2, CT93
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
Summary Summary of gene provided in NCBI Entrez 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 fo
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs142951029 T>C,G Likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs182376945 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs747656642 A>- Conflicting-interpretations-of-pathogenicity Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT859774 hsa-miR-4450 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IDA 21590275
GO:0005635 Component Nuclear envelope IDA 21590275
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005788 Component Endoplasmic reticulum lumen IDA 21590275
GO:0005788 Component Endoplasmic reticulum lumen IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611414 20407 ENSG00000269058
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96L12
Protein name Calreticulin-3 (Calreticulin-2) (Calsperin)
Protein 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. {ECO:00
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00262 Calreticulin 23 → 248 Calreticulin family Family
PF00262 Calreticulin 244 → 318 Calreticulin family Family
Tissue specificity TISSUE SPECIFICITY: Testis specific. {ECO:0000269|PubMed:12384296}.
Sequence 
MARALVQLWAICMLRVALATVYFQEEFLDGEHWRNRWLQSTNDSRFGHFRLSSGKFYGHK
EKDKGLQTTQNGRFYAISARFKPFSNKGKTLVIQYTVKHEQKMDCGGGYIKVFPADIDQK
NLNGKSQYYIMFGPDICGFDIKKVHVILHFKNKYHENKKLIRCKVDGFTHLYTLILRPDL
SYDVKIDGQSIESGSIEYDWNLTSLKKETSPAESKDWEQTKDNKAQDWEKHFLDASTSKQ
SDWNGDLDGDWPAPMLQKPPYQDGLKPEGIHKDVWLHRKMKNTDYLTQYDLSEFENIGAI
GLELWQVRSGTIFDNFLITDDEEYADNFGKATWGETKGPEREMDAIQAKEEMKKAREEEE
EELLSGKINRHEHYFNQFHRRNEL
Sequence length 384
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy N/A N/A ClinVar
Cardiomyopathy Primary dilated cardiomyopathy N/A N/A ClinVar
cardiomyopathy Cardiomyopathy N/A N/A ClinVar
Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy 19, Primary familial hypertrophic cardiomyopathy N/A N/A ClinVar
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathy Hypertrophic Associate 22515980
Testicular Neoplasms Associate 26252478