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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KLHDC2
kelch domain containing 2
Chromosome 14 · 14q21.3
NCBI Gene: 23588Ensembl: ENSG00000165516.12HGNC: HGNC:20231UniProt: Q9Y2U9
38PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingubiquitin-like ligase-substrate adaptor activitynucleoplasmnuclear bodyintellectual developmental disorder with speech delay and axonal peripheral neuropathygenetic disorderYoung adult-onset Parkinsonismessential tremor
✦AI Summary

KLHDC2 (kelch domain containing 2) functions as a substrate-recognition component of a Cullin-RING E3 ubiquitin ligase complex (CRL2) that mediates protein degradation through the DesCEND (destruction via C-end degrons) pathway 1. The primary mechanism involves specific recognition of proteins containing C-terminal diglycine (Gly-Gly) degrons, leading to their ubiquitination and subsequent proteasomal degradation 12. KLHDC2 exhibits sophisticated autoregulation through interconversion between self-inactivated homotetramers and active monomeric forms, where its own C-terminal Gly-Ser motif mimics a degron to prevent promiscuous substrate binding 2. Key physiological substrates include truncated selenoproteins (SELENOK, SELENOS) resulting from failed UGA/Sec decoding and proteolytically cleaved proteins like the N-terminal fragment of USP1 2. The protein demonstrates distinct subcellular localization patterns, being predominantly nuclear, unlike its paralog KLHDC1 3. KLHDC2 has emerged as a promising therapeutic target, with engineered degraders showing selective degradation of proteins like CDK6, demonstrating potent anti-leukemic activity 45. This positions KLHDC2 as both a critical cellular quality control mechanism and a novel platform for targeted protein degradation therapeutics 6.

Sources cited
1
KLHDC2 functions as substrate-recognition component of CRL2 E3 ligase complex in DesCEND pathway recognizing C-terminal degrons
PMID: 29779948
2
KLHDC2 specifically recognizes diglycine C-terminal degrons and exhibits autoregulation through tetramer formation
PMID: 36805027
3
KLHDC2 shows predominantly nuclear localization, distinct from cytoplasmic paralog KLHDC1
PMID: 16964437
4
KLHDC2-mediated degraders demonstrate selective CDK6 degradation with anti-leukemic activity
PMID: 41329866
5
KLHDC2 can be utilized for targeted protein degradation of various proteins including K-RAS, STK33, β-catenin, and FoxP3
PMID: 37591251
6
KLHDC2 serves as platform for developing selective PROTAC protein degraders with paralog-specific targeting
PMID: 39396041
Disease Associationsⓘ20
intellectual developmental disorder with speech delay and axonal peripheral neuropathyOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
Young adult-onset ParkinsonismOpen Targets
0.08Suggestive
essential tremorOpen Targets
0.07Suggestive
Hereditary late-onset Parkinson diseaseOpen Targets
0.07Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.06Suggestive
X-linked parkinsonism-spasticity syndromeOpen Targets
0.06Suggestive
corneal-cerebellar syndromeOpen Targets
0.06Suggestive
spinocerebellar ataxia type 15/16Open Targets
0.06Suggestive
Spinocerebellar ataxia type 40Open Targets
0.06Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.05Suggestive
dystonia 27Open Targets
0.05Suggestive
torsion dystonia 2Open Targets
0.05Suggestive
spinocerebellar ataxia type 20Open Targets
0.05Suggestive
atypical juvenile parkinsonismOpen Targets
0.05Suggestive
X-linked dystonia-parkinsonismOpen Targets
0.05Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.05Suggestive
Cranio-cervical dystonia with laryngeal and upper-limb involvementOpen Targets
0.05Suggestive
granular corneal dystrophy type IOpen Targets
0.05Suggestive
infantile-onset generalized dyskinesia with orofacial involvementOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FEM1CProtein interaction97%CUL2Protein interaction95%ZER1Protein interaction95%GLMNProtein interaction95%PRAMEProtein interaction95%PRAMEF6Protein interaction94%
Tissue Expression6 tissues
Heart
100%
Liver
90%
Ovary
75%
Brain
67%
Bone Marrow
56%
Lung
40%
Gene Interaction Network
Click a node to explore
KLHDC2FEM1CCUL2ZER1GLMNPRAMEPRAMEF6
PROTEIN STRUCTURE
Preparing viewer…
PDB8EBL · 1.37 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.17LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.49–1.17]
RankingsWhere KLHDC2 stands among ~20K protein-coding genes
  • #10,500of 20,598
    Most Researched38
  • #12,180of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedKLHDC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
An artificial intelligence accelerated virtual screening platform for drug discovery.
PMID: 39237523
Nat Commun · 2024
1.00
2
Structural basis for C-degron selectivity across KLHDCX family E3 ubiquitin ligases.
PMID: 39548056
Nat Commun · 2024
0.90
3
Identification of KLHDC2 as an efficient proximity-induced degrader of K-RAS, STK33, β-catenin, and FoxP3.
PMID: 37591251
Cell Chem Biol · 2023
0.80
4
The Eukaryotic Proteome Is Shaped by E3 Ubiquitin Ligases Targeting C-Terminal Degrons.
PMID: 29779948
Cell · 2018
0.70
5
Principles of paralog-specific targeted protein degradation engaging the C-degron E3 KLHDC2.
PMID: 39396041
Nat Commun · 2024
0.60