IL7R
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_002185.2 Gene Symbol IL7R
Protein Name Interleukin 7 receptor
Alternate Names CD127, CDW127, IL-7R-alpha
Gene Locus 5p13

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
106 00893 146661 3575 NetPath_M3575 3575 -
6024 ENSG00000168685 P16871 IL7R

Disease name Characteristic / Associated features Category inheritance type
Interleukin-7 receptor Alpha deficiency; Omenn syndrome Preserved NK cell numbers; preserved NK cell function; severe and persistent viral and protozoan infections; recurrent bacterial infections; otitis media; sepsis; chronic viral infections; pneumocystis infectious disease; failure to thrive; diarrhoea; reduced number of circulating T cells Combined T-cell and B-cell immunodeficiencies Autosomal recessive