FIBCD1

Chr 9

fibrinogen C domain containing 1

NCBI Gene: 84929ENSG00000130720UniProt: Q8N539OMIM: 613357

FIBCD1 encodes a transmembrane endocytic receptor that binds acetylated structures including chitin and N-acetylated carbohydrates, facilitating their cellular uptake. The gene shows extremely low constraint against loss-of-function variants (LOEUF 1.591), and no established Mendelian diseases have been definitively associated with FIBCD1 mutations in current medical literature. Clinical significance of variants in this gene remains uncertain.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.59
Clinical Summary— FIBCD1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
29 unique Pathogenic / Likely Pathogenic· 130 VUS of 177 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
1.59LOEUF
pLI 0.000
Z-score -0.39
OE 1.10 (0.77–1.59)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.38Z-score
OE missense 0.94 (0.85–1.03)
294 obs / 313.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.10 (0.77–1.59)
0≤0.351.4
Missense OE0.94 (0.85–1.03)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 20 / 18.2Missense obs/exp: 294 / 313.0Syn Z: -0.38
DN
0.6357th %ile
GOF
0.6248th %ile
LOF
0.3452th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

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

ClinVar Variant Classifications

177 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic27
Likely Pathogenic2
VUS130
Likely Benign10
Benign2
27
Pathogenic
2
Likely Pathogenic
130
VUS
10
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
27
0
27
Likely Pathogenic
0
0
2
0
2
VUS
0
119
11
0
130
Likely Benign
0
5
3
2
10
Benign
0
0
2
0
2
Total0124452171

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

View in ClinVar →

Protein Context — Lollipop Plot

FIBCD1 · 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
Identification of Fibrinogen C Domain-Containing protein 1 (FIBCD1) as a novel target for treatment of Post-Traumatic stress disorder (PTSD) and discovery of a novel FIBCD1 inhibitor.
Ma S et al.·Brain Behav Immun
2026
Diabetes is causally associated with increased breast cancer mortality by inducing FIBCD1 to activate MCM5-mediated cell cycle arrest via modulating H3K27ac.
Tan B et al.·Cell Death Dis
2025Open Access
Crystal structures of human immune protein FIBCD1 suggest an extended binding site compatible with recognition of pathogen-associated carbohydrate motifs.
Williams HM et al.·J Biol Chem
2024Open Access
Expression of FIBCD1 by intestinal epithelial cells alleviates inflammation-driven tumorigenesis in a mouse model of colorectal cancer.
Shahgoli VK et al.·Front Oncol
2023Open AccessFunctional
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