Information on IKZF2
Basic details
Alt. symbols: ZNFN1A2 | Helios
Approved name: IKAROS family zinc finger 2
Alt. names: zinc finger protein, subfamily 1A, 2 (Helios), IKAROS family zinc finger 2 (Helios)
Location: 2q34: 212999691 - 213152427 (-)
Gene type: protein_coding, 14 transcripts.
Scores: LoFtool: 0.515000 | pLI: 0.92295676 | LOEUF: 0.286
Normal function
Dysfunction and disease
[Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
CID39 |
Combined immunodeficiency 39 | AD/AR |
Loss of Function | - | 1 (1 fams) |
| IDCHADD |
Immunedysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay | AD |
Negative Dominance | - | 0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not been completed yet. It is currently ongoing.
Transcripts of IKZF2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000342002.6 | protein_coding | 8 | No | 3747 | XM_005246386 | |||
| 207 | ENST00000434687.6 | CCDS2395 | Select | protein_coding | 9 | Yes | 3888 | NM_001371274,NM_001387220,NM_016260 | |
| 202 | ENST00000374319.8 | CCDS46507 | protein_coding | 9 | No | 2001 | NM_001079526,NM_001371275,NM_001371276,NM_001371277 |
Published variants
Found 1 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| I325V |
EX9 | 1292 | c.973A>G | p.Ile325Val | missense_variant | Pathogenic | 1 |
Please mind that full curation (inclusion of all published variants) of this gene has not been completed yet. It is currently ongoing.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in IKZF2
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 856 |
2021 | Germline biallelic mutation affecting the transcription fact... | Sci. Immunol. | 34826259 |
1 |