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1 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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KIAA1586
KIAA1586
Chromosome 6 Β· 6p12.1
NCBI Gene: 57691Ensembl: ENSG00000168116.15HGNC: HGNC:21360UniProt: B4DIC2
13PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
SUMO ligase activityprotein sumoylationcoronary atherosclerosiscoronary artery diseaseheart diseaseneurodegenerative disease
✦AI Summary

Based on limited published evidence, KIAA1586 is an E3 SUMO-protein ligase that facilitates UBE2I/UBC9-mediated SUMO2 modification of target proteins 1. The gene has demonstrated SUMO ligase activity and is involved in protein sumoylation pathways. A genome-wide association study identified genetic variants in the KIAA1586-containing 6p12.1 locus associated with sarcoidosis susceptibility 2, though fine mapping suggested RAB23 as the primary risk gene at this locus.

Sources cited
1
KIAA1586 functions as an E3 SUMO-protein ligase facilitating UBE2I/UBC9-mediated SUMO2 modification
PMID: 26524493
2
Genetic variants at the 6p12.1 locus containing KIAA1586 are associated with sarcoidosis susceptibility
PMID: 21540310
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
coronary atherosclerosisOpen Targets
0.27Weak
coronary artery diseaseOpen Targets
0.25Weak
heart diseaseOpen Targets
0.25Weak
neurodegenerative diseaseOpen Targets
0.16Weak
myocardial infarctionOpen Targets
0.10Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
vitreous body diseaseOpen Targets
0.02Suggestive
arthritisOpen Targets
0.02Suggestive
HypocalcemiaOpen Targets
0.02Suggestive
musculoskeletal system diseaseOpen Targets
0.02Suggestive
muscle crampOpen Targets
0.02Suggestive
angina pectorisOpen Targets
0.02Suggestive
Iron deficiency anemiaOpen Targets
0.02Suggestive
Abnormality of mental functionOpen Targets
0.02Suggestive
AlkalosisOpen Targets
0.02Suggestive
cystic fibrosisOpen Targets
0.00Suggestive
autismOpen Targets
0.00Suggestive
autism spectrum disorderOpen Targets
0.00Suggestive
genetic disorderOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants1
NC_000006.12:g.(?_57046622)_(57088889_?)delLikely pathogenic
Schizophrenia
β˜…β˜†β˜†β˜†2018
View on ClinVar β†—
Related Genes
NFATC2IPShared pathway100%SUMO2Shared pathway50%SUMO3Shared pathway50%ZBED1Shared pathway50%UBA2Shared pathway50%ZMIZ2Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
63%
Ovary
45%
Heart
37%
Liver
28%
Lung
19%
Gene Interaction Network
Click a node to explore
KIAA1586NFATC2IPSUMO2SUMO3ZBED1UBA2ZMIZ2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9HCI6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.36LoF Tolerant
pLIβ“˜
0.08Tolerant
Observed/Expected LoF0.60 [0.29–1.36]
RankingsWhere KIAA1586 stands among ~20K protein-coding genes
  • #16,200of 20,598
    Most Researched13
  • #5,455of 5,498
    Most Pathogenic Variants1
  • #14,220of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedKIAA1586
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
A genome-wide association study reveals evidence of association with sarcoidosis at 6p12.1.
PMID: 21540310
Eur Respir J Β· 2011
1.00