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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KCTD19
potassium channel tetramerization domain containing 19
Chromosome 16 Β· 16q22.1
NCBI Gene: 146212Ensembl: ENSG00000168676.11HGNC: HGNC:24753UniProt: Q17RG1
13PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmale meiotic nuclear divisionnucleusidentical protein bindingRare genetic intellectual disability with developmental anomalyazoospermiaMale infertility with spermatogenesis disorder due to single gene mutationpartial chromosome Y deletion
✦AI Summary

KCTD19 is a transcriptional regulator essential for male fertility and meiotic progression. Mechanistically, KCTD19 functions as part of a protein complex with ZFP541 and interacts with HDAC1 to modulate chr16 remodeling and transcriptional programs during meiosis 1. The ZFP541-KCTD19 complex suppresses genes associated with transcriptional regulation and chr16 modification, promoting meiotic prophase completion and chromosome 16 at metaphase I 12. Clinically, biallelic KCTD19 variants cause non-obstructive azoospermia (NOA) and oligoasthenoteratozoospermia characterized by meiotic arrest 342. Identified variants include compound heterozygous and homozygous missense, frameshift, and nonsense mutations that reduce KCTD19 protein abundance through increased ubiquitination and impair nuclear colocalization with ZFP541 4. Affected males exhibit immature sperm nuclei, nuclear aneuploidy, and abnormal sperm morphology, with intracytoplasmic sperm injection (ICSI) unable to rescue these deficiencies 4. Mouse models recapitulate metaphase I arrest phenotypes 2. KCTD19 variants likely account for a subset of idiopathic male infertility cases, highlighting its critical role in human spermatogenesis and potential as a biomarker for NOA diagnosis and treatment 5.

Sources cited
1
Biallelic KCTD19 variants identified in NOA patients; KCTD19 interacts with ZFP541 and HDAC1 in meiotic chromatin remodeling
PMID: 40410542
2
Homozygous KCTD19 missense variants cause oligoasthenoteratozoospermia; variants reduce protein abundance and impair ZFP541 colocalization; ICSI cannot rescue defects
PMID: 37192818
3
ZFP541-KCTD19 complex promotes meiotic prophase completion; complex suppresses genes involved in transcriptional regulation and chromatin modification
PMID: 34075040
4
KCTD19 frameshift and nonsense variants cause meiotic metaphase I arrest; KCTD19 essential for metaphase I chromosome individualization
PMID: 37485353
5
KCTD19 identified as key gene downregulated in NOA; potential biomarker for NOA diagnosis and treatment
PMID: 40783914
Disease Associationsβ“˜20
Rare genetic intellectual disability with developmental anomalyOpen Targets
0.27Weak
azoospermiaOpen Targets
0.10Weak
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.09Suggestive
spermatogenic failure 61Open Targets
0.09Suggestive
spermatogenic failure 62Open Targets
0.09Suggestive
spermatogenic failure 88Open Targets
0.09Suggestive
spermatogenic failure 59Open Targets
0.09Suggestive
spermatogenic failure 60Open Targets
0.09Suggestive
spermatogenic failure 73Open Targets
0.09Suggestive
spermatogenic failure 74Open Targets
0.09Suggestive
spermatogenic failure 48Open Targets
0.09Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
spermatogenic failure 70Open Targets
0.08Suggestive
habitual abortionOpen Targets
0.08Suggestive
spermatogenic failure 23Open Targets
0.08Suggestive
spermatogenic failure 52Open Targets
0.08Suggestive
spermatogenic failure 29Open Targets
0.08Suggestive
Pathogenic Variants1
NM_001100915.3(KCTD19):c.215C>A (p.Thr72Asn)Likely pathogenic
Cerebral visual impairment and intellectual disability
β˜…β˜†β˜†β˜†2015β†’ Residue 72
View on ClinVar β†—
Related Genes
UTP3Protein interaction100%MPHOSPH10Protein interaction99%EIF6Protein interaction99%KRR1Protein interaction96%GTPBP4Protein interaction94%WDR12Protein interaction93%
Tissue Expression6 tissues
Brain
100%
Ovary
64%
Lung
37%
Liver
30%
Bone Marrow
26%
Heart
0%
Gene Interaction Network
Click a node to explore
KCTD19UTP3MPHOSPH10EIF6KRR1GTPBP4WDR12
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q17RG1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.74LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.48–0.74]
RankingsWhere KCTD19 stands among ~20K protein-coding genes
  • #16,198of 20,598
    Most Researched13
  • #5,454of 5,498
    Most Pathogenic Variants1
  • #5,829of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedKCTD19
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Bi-allelic KCTD19 variants associated with meiotic arrest and non-obstructive azoospermia in humans.
PMID: 40410542
J Hum Genet Β· 2025
1.00
2
Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia.
PMID: 37192818
Hum Reprod Β· 2023
0.90
3
Saliva as a potential and non-invasive approach to identify upregulated genes associated with comorbidities of T1DM: a brief report.
PMID: 41074104
Eur J Med Res Β· 2025
0.80
4
Meiosis-specific ZFP541 repressor complex promotes developmental progression of meiotic prophase towards completion during mouse spermatogenesis.
PMID: 34075040
Nat Commun Β· 2021
0.70
5
Loss-of-function variants in
PMID: 37485353
iScience Β· 2023
0.60