ENSG00000269058


Homo sapiens

Features
Gene ID: ENSG00000269058
  
Biological name :CALR3
  
Synonyms : CALR3 / calreticulin 3 / Q96L12
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.11
Gene start: 16479057
Gene end: 16496192
  
Corresponding Affymetrix probe sets: 1552421_a_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000269881
Ensembl peptide - ENSP00000471533
NCBI entrez gene - 125972     See in Manteia.
OMIM - 611414
RefSeq - NM_145046
RefSeq Peptide - NP_659483
swissprot - A0A140VJF7
swissprot - M0R0Y8
swissprot - Q96L12
Ensembl - ENSG00000269058
  
Related genetic diseases (OMIM): 613875 - ?Cardiomyopathy, hypertrophic, 19, 613875
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CALR3ENSGALG00000003914Gallus gallus
 Calr3ENSMUSG00000019732Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CALR / P27797 / calreticulinENSG0000017921849
CANX / P27824 / calnexinENSG0000012702231
CLGN / O14967 / calmeginENSG0000015313230


Protein motifs (from Interpro)
Interpro ID Name
 IPR001580  Calreticulin/calnexin
 IPR009033  Calreticulin/calnexin, P domain superfamily
 IPR009169  Calreticulin
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR018124  Calreticulin/calnexin, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006457 protein folding IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0008150 biological_process ND
 biological_processGO:0030154 cell differentiation IEA
 cellular_componentGO:0005635 nuclear envelope IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030246 carbohydrate binding IEA
 molecular_functionGO:0044183 protein binding involved in protein folding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051082 unfolded protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001670 Asymmetric septal hypertrophy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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