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4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KIAA1549L
KIAA1549 like
Chromosome 11 · 11p13
NCBI Gene: 25758Ensembl: ENSG00000110427.17HGNC: HGNC:24836UniProt: A0A590UJI0
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
membraneopen-angle glaucomaglaucomabrain canceradrenal gland hyperfunction
✦AI Summary

KIAA1549L is a gene located on chromosome 11 whose function remains incompletely characterized but appears relevant to immune regulation and disease susceptibility. The protein product of KIAA1549L binds to B-cell commitment transcription factors 1, suggesting a role in B-cell development and immunological processes. DNA methylation changes in KIAA1549L have been associated with altered asthma risk following tetanus vaccination, with decreased methylation of cg14472551 (an intronic CpG site) linked to reduced asthma risk in adolescents 1. Additionally, KIAA1549L methylation patterns show potential as a biomarker for colorectal cancer detection, with two CpG sites in its promoter region being significantly differentially methylated between CRC cases and controls, contributing to multimarker diagnostic panels 2. In cancer genetics, deleterious mutations in KIAA1549L were identified exclusively in deep melanoma lesions compared to superficial lesions, suggesting involvement in melanoma invasion 3. Furthermore, variants in KIAA1549L show suggestive association with evening preference and share genetic overlap with bipolar disorder susceptibility, with the gene previously implicated in attempted suicide among bipolar patients 4. Collectively, KIAA1549L appears functionally connected to B-cell regulation, immune-related diseases, cancer progression, and neuropsychiatric conditions, though mechanistic understanding remains limited.

Sources cited
1
KIAA1549L protein binds to B-cell commitment transcription factors; methylation of intronic CpG site cg14472551 associates with decreased asthma risk following tetanus vaccination
PMID: 27866770
2
Two CpG sites in KIAA1549L promoter region are differentially methylated between colorectal cancer cases and controls, contributing to cancer detection biomarker panels
PMID: 28270869
3
Deleterious mutations in KIAA1549L identified in deep melanoma lesions but not superficial lesions, suggesting association with tumor invasion
PMID: 33890690
4
KIAA1549L variants associate with evening preference and bipolar disorder genetic risk; gene previously linked to attempted suicide in bipolar patients
PMID: 29192581
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
glaucomaOpen Targets
0.41Moderate
open-angle glaucomaOpen Targets
0.41Moderate
brain cancerOpen Targets
0.26Weak
adrenal gland hyperfunctionOpen Targets
0.26Weak
hyperaldosteronismOpen Targets
0.26Weak
blood coagulation diseaseOpen Targets
0.25Weak
aortic diseaseOpen Targets
0.25Weak
ArthropathyOpen Targets
0.23Weak
tonsillitisOpen Targets
0.22Weak
VitiligoOpen Targets
0.19Weak
bone fractureOpen Targets
0.18Weak
gastritisOpen Targets
0.16Weak
cataractOpen Targets
0.15Weak
drug-Induced dyskinesiaOpen Targets
0.15Weak
squamous cell carcinomaOpen Targets
0.05Suggestive
Griscelli diseaseOpen Targets
0.04Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.04Suggestive
uncombable hair syndromeOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CSTF3Protein interaction87%DEPDC7Protein interaction87%FBXO3Protein interaction87%
Tissue Expression6 tissues
Brain
100%
Heart
1%
Ovary
1%
Lung
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
KIAA1549LCSTF3DEPDC7FBXO3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q12914
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.49–0.71]
RankingsWhere KIAA1549L stands among ~20K protein-coding genes
  • #15,294of 20,598
    Most Researched16
  • #5,462of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedKIAA1549L
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Tetanus vaccination is associated with differential DNA-methylation: Reduces the risk of asthma in adolescence.
PMID: 27866770
Vaccine · 2016
1.00
2
Identification of genetic mutations related to invasion and metastasis of acral melanoma via whole-exome sequencing.
PMID: 33890690
J Dermatol · 2021
0.75
3
Epigenome-wide discovery and evaluation of leukocyte DNA methylation markers for the detection of colorectal cancer in a screening setting.
PMID: 28270869
Clin Epigenetics · 2017
0.50
4
Genetic Influences on Evening Preference Overlap with Those for Bipolar Disorder in a Sample of Mexican Americans and American Indians.
PMID: 29192581
Twin Res Hum Genet · 2017
0.25