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3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KIAA1328
KIAA1328
Chromosome 18 · 18q12.2
NCBI Gene: 57536Ensembl: ENSG00000150477.16HGNC: HGNC:29248UniProt: Q86T90
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingatrial fibrillationrisk-taking behaviourpleural empyemapneumothorax
✦AI Summary

KIAA1328 is a protein-binding factor that competes with SMC1 for binding to SMC3, thereby modulating the assembly of cohesin and related multimeric protein complexes 1. As a cilia basal body/centriolar satellite protein, KIAA1328 plays a structural role in centrosome organization 2. While KIAA1328 disruption is not independently associated with known disease, it was identified as a co-deleted gene in a 275 kb deletion at chromosome 18.2 alongside CELF4 in patients with developmental delay, intellectual disability, seizures, and autism spectrum disorders 3. The clinical manifestation of this deletion phenotype appears primarily attributable to CELF4 haploinsufficiency rather than KIAA1328 loss, as KIAA1328 disruption alone shows no documented pathogenic consequence 3. KIAA1328's molecular function in regulating SMC3 availability suggests potential relevance to chr18 stability maintenance, though clinical significance remains unclear without disease-specific mutations or functional studies demonstrating pathogenic mechanisms independent of co-deletion contexts.

Sources cited
1
KIAA1328 (Hinderin) binds SMC3 and competes with SMC1 for this interaction, affecting multimeric protein complex formation
PMID: 15656913
2
KIAA1328 is a cilia basal body/centriolar satellite protein identified through mass spectrometry-based protein complex mapping
PMID: 28596423
3
KIAA1328 was co-deleted with CELF4 at 18q12.2 in patients with autism and intellectual disability, but its individual disruption is not associated with known disease
PMID: 28407444
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.33Weak
risk-taking behaviourOpen Targets
0.29Weak
pleural empyemaOpen Targets
0.26Weak
pneumothoraxOpen Targets
0.25Weak
hypertrophic cardiomyopathyOpen Targets
0.24Weak
urinary tract obstructionOpen Targets
0.24Weak
exostosisOpen Targets
0.16Weak
infectious arthritisOpen Targets
0.16Weak
upper extremity fractureOpen Targets
0.15Weak
atrial flutterOpen Targets
0.15Weak
kidney transplantOpen Targets
0.15Weak
appendicitisOpen Targets
0.13Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
ovarian dysfunctionOpen Targets
0.12Weak
attention deficit hyperactivity disorderOpen Targets
0.09Suggestive
substance abuseOpen Targets
0.08Suggestive
smoking initiationOpen Targets
0.08Suggestive
diabetic ketoacidosisOpen Targets
0.08Suggestive
ovarian neoplasmOpen Targets
0.07Suggestive
major depressive disorderOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RPAP2Protein interaction100%FRKProtein interaction88%BLOC1S6Protein interaction79%KPNA5Protein interaction78%ASTN2Protein interaction78%WDPCPProtein interaction78%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
57%
Brain
53%
Lung
44%
Heart
36%
Liver
32%
Gene Interaction Network
Click a node to explore
KIAA1328RPAP2FRKBLOC1S6KPNA5ASTN2WDPCP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86T90
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.66–1.09]
RankingsWhere KIAA1328 stands among ~20K protein-coding genes
  • #14,179of 20,598
    Most Researched20
  • #11,087of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedKIAA1328
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.
PMID: 28407444
Am J Med Genet A · 2017
1.00
2
Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes.
PMID: 28596423
Mol Syst Biol · 2017
0.67
3
Hinderin, a five-domains protein including coiled-coil motifs that binds to SMC3.
PMID: 15656913
BMC Cell Biol · 2005
0.33