LP189734-9
CALR gene exon 9
Active
Descriptions
The CALR (calreticulin) gene [HGNC Gene ID: 1455] is located on chromosome 19p13.3-p13.2. Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. [provided by RefSeq, Jul 2008][HGNC Gene ID:811] Source: National Center for Biotechnology Information (NCBI) Gene
Somatic mutations located in exon 9 of the CLAR gene are found in a about 65-85% of patients with myeloproliferative neoplasms, including essential thrombocythemia (ET) and primary myelofibrosis (PMF), and with nonmutated JAK2 and MPL genes. PMID: 24325359 The clinical course for patients with CLAR mutations are associated with longer risk of thrombosis and longer overall survival compared to patients with JAK2 mutations. PMID: 24325356 Over 160 unique mutations have been found in the CALR gene.[COSMIC: CALR] Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- CALR gene exon 9
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-03-06
- Construct for LOINC Short Name
- CALR Exon 9
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP189734-9
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CALR 基因外显子 9 |
| es-ES | Spanish (Spain) | gen CALR, exon 9 |
| it-IT | Italian (Italy) | CALR, gene exon 9 |
| tr-TR | Turkish (Turkey) | CALR geni ekzon 9 |
| nl-NL | Dutch (Netherlands) | CALR-gen exon 9 Synonyms: CALR gen exon 9 |
| fr-CA | French (Canada) | Gène CAL exon 9 |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright