IKBIP
protein-codingIKBKB interacting protein
Gene summary
Predicted to be involved in response to X-ray. Predicted to act upstream of or within several processes, including obsolete negative regulation of NF-kappaB transcription factor activity; response to interleukin-1; and response to tumor necrosis factor. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~31.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to IKBIP variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_153687.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 59 | 3 | 62 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 60 | 3 | 0 | 63 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_710154.1 | 3 | MANE Select | |
| Ensembl | ENSP00000299157.4 | 3 | MANE Select | |
| RefSeq | NP_963906.1 | 3 | Standard | |
| RefSeq | NP_963907.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- response to X-ray
Molecular Function
- protein binding
Cellular Component
- endoplasmic reticulum
- endoplasmic reticulum membrane
- membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000299157
- Coding exons
- 3
- Length
- 31709
- Individuals with no LoFs
- 125616
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 128
- Defined
- 125745
- p
- 0.000513
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.200 | 175 | 183 | 0.958 | 0.00000820 | 2500 |
| Missense (PolyPhen) | 37 | 44.336 | 0.83453 | 660 | ||
| Synonymous | -0.775 | 77 | 68.8 | 1.12 | 0.00000327 | 676 |
| Loss of Function | 0.490 | 12 | 14.0 | 0.859 | 6.80e-7 | 176 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0.00021 | 0.00020 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00018 | 0.00018 | rare |
| South Asian | 0.0031 | 0.0030 | notable |
| Other | 0.00066 | 0.00065 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Target of p53/TP53 with pro-apoptotic function. {ECO:0000269|PubMed:15389287}.;
Intolerance Scores
- LoFtool
- 0.897
- RVIS EVS
- 0.18
- RVIS percentile EVS
- 66.13
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |