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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KIAA1755
KIAA1755
Chromosome 20 · 20q11.23
NCBI Gene: 85449Ensembl: ENSG00000149633.13HGNC: HGNC:29372UniProt: Q5JYT7
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activityaxon guidancecytoplasmplasma membraneatrial fibrillationresponse to antihypertensive drugcardiac arrhythmiadiabetes mellitus
✦AI Summary

KIAA1755 is a gene with guanyl-nucleotide exchange factor activity that localizes to the cytoplasm and plasma membrane, playing roles in axon guidance and cardiac rhythm regulation. The gene has been identified as a candidate for heart rate variability (HRV), with genome-wide association studies revealing that KIAA1755 variants are significantly associated with HRV traits 1. Functional validation in zebrafish demonstrated that disruption of the KIAA1755 orthologue (si:dkey-65j6.2) influences HRV, confirming its role in cardiac rhythm regulation 2. KIAA1755 also shows disease relevance across multiple conditions. In chr20 lymphocytic leukemia, the long non-coding RNA lnc-KIAA1755-4 is overexpressed and serves as a poor prognostic marker, with high expression associated with adverse clinical characteristics and shorter overall survival 34. In breast cancer, a coding variant (rs1205434) in KIAA1755 is associated with increased disease risk, particularly showing interaction with age at menarche 5. The gene has also been identified as a hub gene in intracranial aneurysm networks and as a potential target for prostate cancer-related microRNAs 67. Clinically, KIAA1755 represents a potential biomarker and therapeutic target across cardiovascular and oncological conditions.

Sources cited
1
KIAA1755 variants are significantly associated with heart rate variability traits in genome-wide association studies
PMID: 28613276
2
Functional validation in zebrafish showed that KIAA1755 orthologue disruption influences heart rate variability
PMID: 32678143
3
High lnc-KIAA1755-4 expression is associated with poor prognosis and adverse clinical characteristics in chronic lymphocytic leukemia
PMID: 39940921
4
lnc-KIAA1755-4 is part of a 2-lncRNA risk model for chronic lymphocytic leukemia prognosis
PMID: 27611921
5
KIAA1755 coding variant rs1205434 is associated with increased breast cancer risk and shows interaction with age at menarche
PMID: 33987247
6
KIAA1755 was identified as a pivot gene in intracranial aneurysm gene co-expression networks
PMID: 30786351
7
KIAA1755 was identified as a potential target gene for a three-microRNA panel in prostate cancer
PMID: 37960876
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.37Weak
response to antihypertensive drugOpen Targets
0.30Weak
cardiac arrhythmiaOpen Targets
0.29Weak
diabetes mellitusOpen Targets
0.27Weak
autosomal dominant compelling helio-ophthalmic outburst syndromeOpen Targets
0.26Weak
male infertilityOpen Targets
0.25Weak
TachycardiaOpen Targets
0.24Weak
muscular diseaseOpen Targets
0.22Weak
metabolic syndromeOpen Targets
0.21Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
breast cancerOpen Targets
0.03Suggestive
Abruptio PlacentaeOpen Targets
0.03Suggestive
retinal degenerationOpen Targets
0.02Suggestive
chronic lymphocytic leukemiaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
type 2 diabetes mellitusOpen Targets
0.00Suggestive
endometrial carcinomaOpen Targets
0.00Suggestive
glioblastoma multiformeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PLEKHG4Shared pathway50%ARHGEF40Shared pathway50%ARHGEF25Shared pathway50%NTN3Shared pathway50%PTPRHShared pathway50%HMCN2Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Heart
81%
Brain
46%
Liver
18%
Bone Marrow
16%
Lung
8%
Gene Interaction Network
Click a node to explore
KIAA1755PLEKHG4ARHGEF40ARHGEF25NTN3PTPRHHMCN2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5JYT7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.63–0.95]
RankingsWhere KIAA1755 stands among ~20K protein-coding genes
  • #17,082of 20,598
    Most Researched10
  • #8,954of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedKIAA1755
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
[Construction and analysis of gene co-expression networks in intracranial aneurysm].
PMID: 30786351
Zhonghua Yi Xue Za Zhi · 2019
1.00
2
lncRNA profiling in early-stage chronic lymphocytic leukemia identifies transcriptional fingerprints with relevance in clinical outcome.
PMID: 27611921
Blood Cancer J · 2016
0.90
3
Potential functional variants of KIAA genes are associated with breast cancer risk in a case control study.
PMID: 33987247
Ann Transl Med · 2021
0.80
4
Genetic loci associated with heart rate variability and their effects on cardiac disease risk.
PMID: 28613276
Nat Commun · 2017
0.70
5
High Expression Levels of the Long Non-Coding RNAs Lnc-IRF2-3 and Lnc-KIAA1755-4 Are Markers of Poor Prognosis in Chronic Lymphocytic Leukemia.
PMID: 39940921
Int J Mol Sci · 2025
0.60