IKZF2
Zinc finger protein Helios
Also known as: Helios, IKZF2_HUMAN, ZNFN1A2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UKS7
- Gene
- IKZF2
- Ensembl
- ENSG00000030419
- Chromosome
- 2
- Canonical length
- 526 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nuclear bodies,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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 forms homo- or hetero-dimers with other Ikaros family members, and is thought to function predominantly in early hematopoietic development. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
526 residues, UniProt reviewed canonical sequence.
>Q9UKS7|IKZF2
1 METEAIDGYI TCDNELSPER EHSNMAIDLT SSTPNGQHAS PSHMTSTNSV KLEMQSDEEC
61 DRKPLSREDE IRGHDEGSSL EEPLIESSEV ADNRKVQELQ GEGGIRLPNG KLKCDVCGMV
121 CIGPNVLMVH KRSHTGERPF HCNQCGASFT QKGNLLRHIK LHSGEKPFKC PFCSYACRRR
181 DALTGHLRTH SVGKPHKCNY CGRSYKQRSS LEEHKERCHN YLQNVSMEAA GQVMSHHVPP
241 MEDCKEQEPI MDNNISLVPF ERPAVIEKLT GNMGKRKSST PQKFVGEKLM RFSYPDIHFD
301 MNLTYEKEAE LMQSHMMDQA INNAITYLGA EALHPLMQHP PSTIAEVAPV ISSAYSQVYH
361 PNRIERPISR ETADSHENNM DGPISLIRPK SRPQEREASP SNSCLDSTDS ESSHDDHQSY
421 QGHPALNPKR KQSPAYMKED VKALDTTKAP KGSLKDIYKV FNGEGEQIRA FKCEHCRVLF
481 LDHVMYTIHM GCHGYRDPLE CNICGYRSQD RYEFSSHIVR GEHTFHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IKZF2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.56
- Highest tissue expression
- 38 nTPM
Expression across tissuesHPA
Tissue
- thymus: 38 nTPM
- esophagus: 18 nTPM
- urinary bladder: 9 nTPM
- skin: 8.6 nTPM
- vagina: 8 nTPM
- salivary gland: 7.8 nTPM
Single-cell type
- esophageal apical cells: 563 nCPM
- ocular epithelial cells: 531 nCPM
- papillary tip epithelial cells: 388 nCPM
- urothelial cells: 286 nCPM
- prostatic hillock cells: 259 nCPM
- esophageal suprabasal cells: 232 nCPM
Immune cell
- T-reg: 5.9 nTPM
- NK-cell: 5.8 nTPM
- MAIT T-cell: 4.9 nTPM
- eosinophil: 4.8 nTPM
- basophil: 3.9 nTPM
- gdT-cell: 1.8 nTPM
Brain region
- white matter: 21 nTPM
- basal ganglia: 18 nTPM
- pons: 18 nTPM
- medulla oblongata: 18 nTPM
- thalamus: 15 nTPM
- hypothalamus: 14 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IKZF2.
Disease | AllUniProt
Conditions IKZF2 is implicated in, by any mechanism.
- Immunodysregulation with variable immunodeficiency and autoimmunity (IMDIA) MIM:621233
- ICHAD syndrome (ICHAD) MIM:621234
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.29
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 1.4
- DepMap mean gene effect
- 0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
- sensory perception of sound
Molecular functions
- DNA-binding transcription factor activity
- identical protein binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of IKZF2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IKZF2 as an antibody target. Whether an autoantibody or antibody against IKZF2 could matter depends on whether native IKZF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IKZF2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label IKZF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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