CIB1

Chr 15AR

calcium and integrin binding 1

Also known as: CIB, CIBP, EV3, KIP1, PRKDCIP, SIP2-28

NCBI Gene: 10519ENSG00000185043UniProt: Q99828OMIM: 602293

This calcium-binding protein regulates diverse cellular processes including cell proliferation, migration, platelet function, and angiogenesis, and forms complexes with TMC6/EVER1 and TMC8/EVER2 proteins in lymphocytes and keratinocytes. Autosomal recessive mutations cause susceptibility to epidermodysplasia verruciformis, a rare disorder characterized by chronic human papillomavirus infections and increased risk of skin cancer. The gene shows tolerance to loss-of-function variation (LOEUF 1.148), consistent with the recessive inheritance pattern.

OMIMResearchSummary from RefSeq, OMIM, UniProt
MultiplemechanismARLOEUF 1.151 OMIM phenotype
Clinical Summary— CIB1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
54 unique Pathogenic / Likely Pathogenic· 155 VUS of 341 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.15LOEUF
pLI 0.000
Z-score 1.22
OE 0.61 (0.35–1.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.06Z-score
OE missense 0.98 (0.84–1.15)
110 obs / 111.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.61 (0.35–1.15)
0≤0.351.4
Missense OE0.98 (0.84–1.15)
0≤0.61.4
Synonymous OE0.91
0≤1.21.6
LoF obs/exp: 7 / 11.5Missense obs/exp: 110 / 111.8Syn Z: 0.48
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveCIB1-related epidermodysplasia verruciformisOTHERAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.79top 25%
GOF
0.82top 10%
LOF
0.2190th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

341 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic45
Likely Pathogenic9
VUS155
Likely Benign95
Benign15
Conflicting2
45
Pathogenic
9
Likely Pathogenic
155
VUS
95
Likely Benign
15
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
10
0
35
0
45
Likely Pathogenic
5
0
4
0
9
VUS
1
146
8
0
155
Likely Benign
0
9
42
44
95
Benign
0
2
10
3
15
Conflicting
—2
Total161579947321

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CIB1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients