JAK3
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_000215.2 Gene Symbol JAK3
Protein Name Janus kinase 3 (a protein tyrosine kinase, leukocyte)
Alternate Names JAK-3, JAK3_HUMAN, JAKL, L-JAK, LJAK
Gene Locus 19p13.1

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
9 02547 600173 3718 NetPath_M3718 3718 1YVJ
 6193 ENSG00000105639 P52333 JAK3

Disease name Characteristic / Associated features Category inheritance type
JAK3 deficiency Recurrent bacterial infections; recurrent cytomegaloviral infections; recurrent Penumocystis carnii infections; absence of T lymphocytes; absence of NK cells; normal to elevated numbers of non-functional B lymphocytes; marked hypoplasia of lymphoid tissues Combined T-cell and B-cell immunodeficiencies Autosomal recessive