IKZF2
entrez
22807
canonical
uniprot
Q9UKS7
canonical
ensembl
ENSG00000030419
resolver
ensp
ENSP00000342876
resolver
ensp
ENSP00000363439
resolver
ensp
ENSP00000412869
resolver
ensp
ENSP00000522842
resolver
ensp
ENSP00000522843
resolver
ensp
ENSP00000522844
resolver
ensp
ENSP00000522845
resolver
ensp
ENSP00000522847
resolver
ensp
ENSP00000639388
resolver
ensp
ENSP00000639389
resolver
enst
ENST00000342002
resolver
genesymbol
IKZF2
resolver
genesymbol
ZNFN1A2
resolver
genesymbol_syn
HELIOS
resolver
genesymbol_syn
ZNFN1A2
resolver
hgnc
HGNC:13177
resolver
uniprot
B4DWF2
resolver
uniprot
J3KNV2
resolver
uniprot
Q53YJ5
resolver
uniprot
Q6PQC5
resolver
uniprot
Q6PQC6
resolver
uniprot
Q6PQC7
resolver
uniprot
Q6PQC8
resolver
uniprot
Q6PQD0
resolver
uniprot
Q6PQD1
resolver
uniprot
Q8N6S1
resolver
uniprot_entry
B4DWF2_HUMAN
resolver
uniprot_entry
IKZF2_HUMAN
resolver
uniprot_entry
J3KNV2_HUMAN
resolver
uniprot_sec
Q53YJ5
resolver
uniprot_sec
Q6PQC5
resolver
uniprot_sec
Q6PQC6
resolver
uniprot_sec
Q6PQC7
resolver
uniprot_sec
Q6PQC8
resolver
uniprot_sec
Q6PQD0
resolver
uniprot_sec
Q6PQD1
resolver
uniprot_sec
Q8N6S1
resolver
amino_acid_sequence
METEAIDGYITCDNELSPEREHSNMAIDLTSSTPNGQHASPSHMTSTNSVKLEMQSDEECDRKPLSREDEIRGHDEGSSLEEPLIESSEVADNRKVQELQGEGGIRLPNGKLKCDVCGMVCIGPNVLMVHKRSHTGERPFHCNQCGASFTQKGNLLRHIKLHSGEKPFKCPFCSYACRRRDALTGHLRTHSVGKPHKCNYCGRSYKQRSSLEEHKERCHNYLQNVSMEAAGQVMSHHVPPMEDCKEQEPIMDNNISLVPFERPAVIEKLTGNMGKRKSSTPQKFVGEKLMRFSYPDIHFDMNLTYEKEAELMQSHMMDQAINNAITYLGAEALHPLMQHPPSTIAEVAPVISSAYSQVYHPNRIERPISRETADSHENNMDGPISLIRPKSRPQEREASPSNSCLDSTDSESSHDDHQSYQGHPALNPKRKQSPAYMKEDVKALDTTKAPKGSLKDIYKVFNGEGEQIRAFKCEHCRVLFLDHVMYTIHMGCHGYRDPLECNICGYRSQDRYEFSSHIVRGEHTFH
uniprot
proteins
disease_involvement
DISEASE: Immunodysregulation with variable immunodeficiency and autoimmunity (IMDIA) [MIM:621233]: An immunologic disorder presenting with variable manifestations. Some patients have immunodeficiency with lymphopenia and hypogammaglobulinemia, recurrent respiratory infections, and chronic fungal or viral infections. Other patients have autoimmunity, autoinflammation, and lymphoproliferation. Additional variable features include systemic lupus erythematosus and Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. IMDIA is inherited as an autosomal dominant or autosomal recessive condition. {ECO:0000269|PubMed:34826259, ECO:0000269|PubMed:34826260, ECO:0000269|PubMed:34920454}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: ICHAD syndrome (ICHAD) [MIM:621234]: An autosomal dominant syndrome characterized by a core phenotype consisting of T-cell lymphopenia, recurrent respiratory infections, craniofacial anomalies, cleft palate, sensorineural hearing impairment, athelia, and developmental delay. {ECO:0000269|PubMed:37316189}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor, which stabilizes the noninflammatory phenotype of regulatory T cells (Tregs) (By similarity). May possibly act via STAT5-mediated signaling (By similarity). Binds IL2 promoter and represses its transcription, possibly by epigenetic silencing, inducing deacetylation of core histones in the IL2 promoter (PubMed:37316189). In Tregs, required for FOXP3 recruitment to the IL2 promoter (By similarity). Required for outer hair cells maturation and, consequently, for hearing (By similarity). {ECO:0000250|UniProtKB:P81183, ECO:0000269|PubMed:37316189}.
uniprot
proteins
mass_dalton
59574
uniprot
proteins
protein_family
Ikaros C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
10541817
uniprot
proteins
pubmed
10978333
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
34826259
uniprot
proteins
pubmed
34826260
uniprot
proteins
pubmed
34920454
uniprot
proteins
pubmed
37316189
uniprot
proteins
pubmed
39406892
uniprot
proteins
pubmed
39754384
uniprot
proteins
sequence_length
526
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:34826259, ECO:0000269|PubMed:34920454}. Note=Associates with IKZF1/Ikaros at centromeric heterochromatin in T-cell nuclei. {ECO:0000250|UniProtKB:P81183}.
uniprot
proteins