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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KLHL12
kelch like family member 12
Chromosome 1 · 1q32.1
NCBI Gene: 59349Ensembl: ENSG00000117153.16HGNC: HGNC:19360UniProt: Q53G59
78PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingendoplasmic reticulum to Golgi vesicle-mediated transportneural crest formationneurodegenerative diseaseobesityprimary biliary cirrhosismetabolic syndrome
✦AI Summary

KLHL12 (kelch like family member 12) functions as a substrate-specific adapter of the BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex with multiple roles in cellular regulation. Mechanistically, KLHL12 primarily acts by mediating monoubiquitination of SEC31A/B proteins to regulate COPII vesicle coat size, thereby controlling collagen export essential for embryonic stem cell division and neural crest specification 1. The complex also negatively regulates Wnt signaling through ubiquitin-mediated proteolysis of DVL3 [UniProt reference]. Additionally, KLHL12 mediates polyubiquitination of dopamine D4 receptor and PEF1 without triggering protein degradation, with specificity for certain D4R polymorphic variants implicated in attention deficit hyperactivity disorder 2. Clinically, KLHL12 dysfunction associates with multiple pathologies. In cancer, KLHL12-mediated collagen secretion promotes epithelial-mesenchymal transition and tumor metastasis when LZTR1, a competing CUL3 adaptor, is deficient 3. In primary biliary cirrhosis, anti-KLHL12 autoantibodies serve as novel diagnostic biomarkers, particularly valuable for AMA-negative patients, improving diagnostic sensitivity when combined with conventional markers 45. Recent evidence implicates KLHL12 in reticulophagy, where it ubiquitinates RTN3L to target ERAD-resistant misfolded protein condensates for autophagic degradation at ER-reticulophagy sites 6. MEF2B lymphoma-associated mutations escape KLHL12-mediated degradation, enhancing stability and driving B-cell lymphomagenesis 7.

Sources cited
1
KLHL12 acts as an adaptor for CUL3 E3 ligase to ubiquitinate SEC31 and regulate COPII coat size for collagen export
PMID: 26422332
2
KLHL12 promotes polyubiquitination of dopamine D4 receptor with specificity for polymorphic variants, without causing degradation
PMID: 27068976
3
KLHL12-mediated collagen secretion promotes tumor metastasis and EMT; LZTR1 inhibits KLHL12 function
PMID: 37626065
4
Anti-KLHL12 autoantibodies are highly specific diagnostic biomarkers for primary biliary cirrhosis, especially in AMA-negative patients
PMID: 25243383
5
Anti-KLHL12 antibodies remain relatively stable over time in PBC and are present in seronegative patients
PMID: 32467507
6
CUL3-KLHL12 E3 ligase ubiquitinates RTN3L to target misfolded protein condensates for reticulophagy at ER tubule junctions
PMID: 40415242
7
MEF2B lymphoma-associated mutations impair KLHL12 interaction, increasing protein stability and driving B-cell lymphomagenesis
PMID: 39179580
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.42Moderate
obesityOpen Targets
0.15Weak
primary biliary cirrhosisOpen Targets
0.09Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
attention deficit hyperactivity disorderOpen Targets
0.01Suggestive
juvenile dermatomyositisOpen Targets
0.01Suggestive
Sjogren syndromeOpen Targets
0.01Suggestive
osteosarcomaOpen Targets
0.01Suggestive
acute quadriplegic myopathyOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
Autoimmune HepatitisOpen Targets
0.00Suggestive
fibrosarcomaOpen Targets
0.00Suggestive
HepatoblastomaOpen Targets
0.00Suggestive
lymphomaOpen Targets
0.00Suggestive
neuroblastomaOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
Schwartz-Jampel syndromeOpen Targets
0.00Suggestive
invasive breast ductal carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SEC31AProtein interaction100%RBX1Protein interaction99%SEC13Protein interaction97%SEC24CProtein interaction97%SEC24DProtein interaction97%SEC24BProtein interaction97%
Tissue Expression6 tissues
Brain
100%
Heart
86%
Bone Marrow
64%
Liver
50%
Ovary
49%
Lung
43%
Gene Interaction Network
Click a node to explore
KLHL12SEC31ARBX1SEC13SEC24CSEC24DSEC24B
PROTEIN STRUCTURE
Preparing viewer…
PDB2VPJ · 1.85 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.43Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.28 [0.19–0.43]
RankingsWhere KLHL12 stands among ~20K protein-coding genes
  • #6,083of 20,598
    Most Researched78
  • #2,356of 17,882
    Most Constrained (LOEUF)0.43 · top quartile
Genes detectedKLHL12
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Dopamine D4 receptor ubiquitination.
PMID: 27068976
Biochem Soc Trans · 2016
1.00
2
MEF2B C-terminal mutations enhance transcriptional activity and stability to drive B cell lymphomagenesis.
PMID: 39179580
Nat Commun · 2024
0.90
3
Anti-kelch-like 12 and anti-hexokinase 1: novel autoantibodies in primary biliary cirrhosis.
PMID: 25243383
Liver Int · 2015
0.80
4
Endoplasmic reticulum tubule junctions are sites of autophagy.
PMID: 40415242
Autophagy · 2025
0.70
5
The pathway of collagen secretion.
PMID: 26422332
Annu Rev Cell Dev Biol · 2015
0.60