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CALR3 calreticulin 3 [ Homo sapiens (human) ]

Gene ID: 125972, updated on 23-Oct-2014
Official Symbol
CALR3provided by HGNC
Official Full Name
calreticulin 3provided by HGNC
Primary source
HGNC:HGNC:20407
See related
Ensembl:ENSG00000269058; HPRD:12999; MIM:611414; Vega:OTTHUMG00000152571
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CRT2; CT93; CMH19
Summary
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]
See CALR3 in Epigenomics, MapViewer
Location:
19p13.11
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (16479057..16496192, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (16589767..16607015, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene epidermal growth factor receptor pathway substrate 15-like 1 Neighboring gene ribosomal protein S2 pseudogene 51 Neighboring gene uncharacterized LOC102724308 Neighboring gene chromosome 19 open reading frame 44 Neighboring gene calcium homeostasis endoplasmic reticulum protein Neighboring gene solute carrier family 35, member E1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Familial hypertrophic cardiomyopathy 19
MedGen: C3151266 OMIM: 613875 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Multiple loci are associated with white blood cell phenotypes.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Homology

Clone Names

  • FLJ25355, MGC26577

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
protein binding involved in protein folding IEA
Inferred from Electronic Annotation
more info
 
unfolded protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
protein folding IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
calreticulin-3
Names
calreticulin-3
calsperin
calreticulin-2
cancer/testis antigen 93

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031959.2 

    Range
    137013..154148
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_422

mRNA and Protein(s)

  1. NM_145046.4NP_659483.2  calreticulin-3 precursor

    See proteins identical to NP_659483.2

    Status: REVIEWED

    Source sequence(s)
    AA724299, AA910019, AB576176, BC014595, BP370084, DB459545
    Consensus CDS
    CCDS12344.1
    UniProtKB/Swiss-Prot
    Q96L12
    Related
    ENSP00000269881, OTTHUMP00000269228, ENST00000269881, OTTHUMT00000461089
    Conserved Domains (1) summary
    pfam00262
    Location:21318
    Calreticulin; Calreticulin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    16479057..16496192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    16158784..16175504
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    16589388..16606484
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)