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GENE - TERM ANNOTATION REPORT

RGD ID: 1584031
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tmem120b
Name: transmembrane protein 120B
Acc ID: DOID:0111976
Term: immunodeficiency 9
Definition: A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/16582901/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/20004786/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Tmem120b ISOTMEM120B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiencyPMID:16582901 PMID:20004786 PMID:26070885 PMID:28492532
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