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GENE - TERM ANNOTATION REPORT

RGD ID: 14190102
Species: Sus scrofa
RGD Object: Gene
Symbol: KCTD13
Name: potassium channel tetramerization domain containing 13
Acc ID: DOID:0060019
Term: coronin-1A deficiency
Definition: A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. (DO)
Definition Source(s): http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum "DO" "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed "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)
KCTD13 ISOKCTD13 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency 8PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:2825199 PMID:28492532
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