Information on NFKBIA
Basic details
Alt. symbols: NFKBI | IKBA | MAD-3 | IkappaBalpha
Approved name: NFKB inhibitor alpha
Alt. names: nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha | NF-kappa-B inhibitor alpha
Location: 14q13.2: 35401079 - 35404749 (-)
Gene type: protein_coding, 21 transcripts.
Scores: LoFtool: 0.056600 | pLI: 0.97935203 | LOEUF: 0.193
Normal function
Dysfunction and disease
Ectodermal dysplasia and immunodeficiency 2 [MIM:612132] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
EDAID2 |
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency | AD |
Gain of Function | 612132 |
1 (1 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 NFKBIA
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000216797.10 | 1 | CCDS9656 | Select | protein_coding | 6 | Yes | 1559 | NM_020529 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
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 NFKBIA
| ID | Year | Title | Journal | PMID | Variants |
|---|