Gene Gene information from NCBI Gene database.
Entrez ID 22807
Gene name IKAROS family zinc finger 2
Gene symbol IKZF2
Synonyms (NCBI Gene)
ANF1A2HELIOSICHADIMDIAZNF1A2ZNFN1A2
Chromosome 2
Chromosome location 2q34
Summary This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This protein f
miRNA miRNA information provided by mirtarbase database.
635
miRTarBase ID miRNA Experiments Reference
MIRT038326 hsa-miR-130b-5p CLASH 23622248
MIRT054200 hsa-miR-125b-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 22723551
MIRT707131 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT707130 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT388947 hsa-miR-6083 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0003677 Function DNA binding IEA
GO:0003700 Function DNA-binding transcription factor activity IBA
GO:0003700 Function DNA-binding transcription factor activity IMP 39406892
GO:0005515 Function Protein binding IPI 23088713, 25416956, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606234 13177 ENSG00000030419
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UKS7
Protein name Zinc finger protein Helios (Ikaros family zinc finger protein 2)
Protein function Transcriptional regulator required for outer hair cells (OHC) maturation and, consequently, for hearing.
PDB 7LPS , 8DEY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 140 162 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 168 190 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 196 219 Zinc finger, C2H2 type Domain
Sequence
METEAIDGYITCDNELSPEREHSNMAIDLTSSTPNGQHASPSHMTSTNSVKLEMQSDEEC
DRKPLSREDEIRGHDEGSSLEEPLIESSEVADNRKVQELQGEGGIRLPNGKLKCDVCGMV
CIGPNVLMVHKRSHTGERPFHCNQCGASFTQKGNLLRHIKLHSGEKPFKCPFCSYACRRR
DALTGHLRTH
SVGKPHKCNYCGRSYKQRSSLEEHKERCHNYLQNVSMEAAGQVMSHHVPP
MEDCKEQEPIMDNNISLVPFERPAVIEKLTGNMGKRKSSTPQKFVGEKLMRFSYPDIHFD
MNLTYEKEAELMQSHMMDQAINNAITYLGAEALHPLMQHPPSTIAEVAPVISSAYSQVYH
PNRIERPISRETADSHENNMDGPISLIRPKSRPQEREASPSNSCLDSTDSESSHDDHQSY
QGHPALNPKRKQSPAYMKEDVKALDTTKAPKGSLKDIYKVFNGEGEQIRAFKCEHCRVLF
LDHVMYTIHMGCHGYRDPLECNICGYRSQDRYEFSSHIVRGEHTFH
Sequence length 526
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DUE TO HELIOS DEFICIENCY Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Undifferentiated Leukemia Leukemia BEFREE 30472158
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 22867996
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia CTD_human_DG 26437031
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 34826259 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Autoimmune Autoimmune hemolytic anemia Pubtator 40295428 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 26076982 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 30990587 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 35883614 Inhibit
★☆☆☆☆
Found in Text Mining only
Autoimmune thyroiditis Autoimmune Thyroiditis BEFREE 29890552
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 22867996
★☆☆☆☆
Found in Text Mining only