HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FEM1B
fem-1 homolog B
Chromosome 15 · 15q23
NCBI Gene: 10116Ensembl: ENSG00000169018.6HGNC: HGNC:3649UniProt: Q9UK73
51PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
death receptor bindingprotein bindingubiquitin-like ligase-substrate adaptor activitynucleoplasmNeurodevelopmental disorderIntellectual disabilitymalignant renal pelvis neoplasmMODY
✦AI Summary

FEM1B is a substrate-recognition component of the CRL2 (Cullin2-RING) E3 ubiquitin ligase complex that functions as a key regulator of cellular homeostasis through multiple mechanisms. Mechanistically, FEM1B recognizes C-degrons (C-terminal degradation signals) at the extreme C terminus of target proteins, with zinc ions acting as a molecular glue to facilitate substrate binding 1. The CRL2(FEM1B) complex specifically recognizes proteins ending with -Gly-Leu-Asp-Arg motifs and employs a bipartite mechanism recognizing both C-terminal proline and upstream aromatic residues 2. A critical function of FEM1B is sensing reductive stress through recognition of reduced cysteine residues in FNIP1, triggering its degradation to restore mitochondrial ROS production and maintain redox homeostasis 34. FEM1B also regulates mitochondrial dynamics by controlling PLD6 turnover through interaction with the mitochondrial import receptor TOM20 5. Additionally, FEM1B mediates degradation of multiple substrates including GLI1, SLBP, and ANKRD37, and functions in replication stress responses by facilitating CHK1 activation through Rad9 recruitment 6. Clinically, FEM1B dysfunction is associated with neurodevelopmental disorders with behavioral, ear, and skeletal abnormalities 1. Tight regulation of FEM1B activity is essential; gain-of-function mutations produce developmental syndromes similar to BEX deletion, underscoring the importance of balanced zinc-dependent reductive stress signaling for organismal homeostasis.

Sources cited
1
Zinc acts as molecular glue for FEM1B-FNIP1 interaction during reductive stress; FEM1B gain-of-function causes developmental syndrome; association with neurodevelopmental disorder
PMID: 34562363
2
FEM1B recognizes C-degrons with bipartite mechanism involving C-terminal proline and upstream aromatic residue; NEDD8-mediated activation of CRL2FEM1B
PMID: 38670995
3
CUL2FEM1B core component of reductive stress response; FNIP1 degradation restores mitochondrial activity and redox homeostasis
PMID: 32941802
4
CUL2FEM1B senses ROS at mitochondrial TOM complexes; ROS depletion triggers degradation of substrates to sustain mitochondrial import
PMID: 39642856
5
FEM1B regulates mitochondrial dynamics through PLD6 degradation; interaction with TOM20 facilitates substrate recognition
PMID: 40263465
6
FEM1B required for CHK1 activation and Rad9 chromatin loading in response to replication stress
PMID: 19330022
Disease Associationsⓘ21
Neurodevelopmental disorderOpen Targets
0.37Weak
Intellectual disabilityOpen Targets
0.37Weak
malignant renal pelvis neoplasmOpen Targets
0.27Weak
MODYOpen Targets
0.09Suggestive
type 1 diabetes mellitusOpen Targets
0.07Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
maturity-onset diabetes of the young type 4Open Targets
0.06Suggestive
diabetes mellitus, transient neonatal, 2Open Targets
0.06Suggestive
maturity-onset diabetes of the young type 2Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 6Open Targets
0.05Suggestive
exercise-induced hyperinsulinismOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
diabetic ketoacidosisOpen Targets
0.05Suggestive
hyperinsulinemic hypoglycemia, familial, 2Open Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
chronic pancreatitisOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.05Suggestive
GCGR-related hyperglucagonemiaOpen Targets
0.05Suggestive
hyperinsulinemic hypoglycemia, familial, 1Open Targets
0.04Suggestive
islet cell adenomatosisOpen Targets
0.04Suggestive
Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalitiesUniProt
Pathogenic Variants1
NM_015322.5(FEM1B):c.377G>A (p.Arg126Gln)Pathogenic
Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities
☆☆☆☆2025→ Residue 126
View on ClinVar ↗
Related Genes
LRR1Protein interaction99%COPS6Protein interaction97%ELOBProtein interaction94%PRAMEF6Protein interaction94%KLHDC10Protein interaction93%PRAMEF15Protein interaction93%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
65%
Heart
64%
Ovary
32%
Lung
31%
Liver
31%
Gene Interaction Network
Click a node to explore
FEM1BLRR1COPS6ELOBPRAMEF6KLHDC10PRAMEF15
PROTEIN STRUCTURE
Preparing viewer…
PDB7EL6 · 2.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.42Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.25 [0.15–0.42]
RankingsWhere FEM1B stands among ~20K protein-coding genes
  • #8,669of 20,598
    Most Researched51
  • #5,091of 5,498
    Most Pathogenic Variants1
  • #2,215of 17,882
    Most Constrained (LOEUF)0.42 · top quartile
Genes detectedFEM1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A Cellular Mechanism to Detect and Alleviate Reductive Stress.
PMID: 32941802
Cell · 2020
1.00
2
TOM20-driven E3 ligase recruitment regulates mitochondrial dynamics through PLD6.
PMID: 40263465
Nat Chem Biol · 2026
0.90
3
Structural basis and regulation of the reductive stress response.
PMID: 34562363
Cell · 2021
0.80
4
Reactive oxygen species control protein degradation at the mitochondrial import gate.
PMID: 39642856
Mol Cell · 2024
0.70
5
Sequence, organization, and expression of the human FEM1B gene.
PMID: 10623617
Biochem Biophys Res Commun · 2000
0.60