HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
4 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.
TGIF2LY
TGFB induced factor homeobox 2 like Y-linked
Chromosome Y Β· Yp11.2
NCBI Gene: 90655Ensembl: ENSG00000176679.9HGNC: HGNC:18569UniProt: Q8IUE0
15PubMed Papers
4Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingprotein bindingDNA-binding transcription repressor activity, RNA polymerase II-specificRNA polymerase II cis-regulatory region sequence-specific DNA bindingmale infertility with azoospermia or oligozoospermia due to single gene mutationinfertilitygestational diabetespulmonary arterial hypertension
✦AI Summary

TGIF2LY is a Y-linked transcription factor that may function as a transcriptional regulator in testis and potentially compete with or regulate TGIF2LX [UniProt]. The gene encodes a DNA-binding protein with transcription repressor activity specific to RNA polymerase II, capable of binding chrY and cis-regulatory regions [GO annotations]. TGIF2LY has clinical relevance to male fertility: heterozygous truncating variants were validated as a likely cause of primary spermatogenic failure in an analysis of 521 infertile men, with LP/P variants identified in multiple subjects with azoospermia, oligozoospermia, or cryptorchidism 1. During early embryonic development, TGIF2LY shows higher expression in undifferentiated human embryonic stem cells compared to differentiated embryoid bodies, suggesting a role in maintaining pluripotency rather than lineage-specific differentiation 2. Additionally, TGIF2LY exhibited differential expression in endometrial microchimerism studies, with elevated expression in infertile patients compared to fertile controls 3. The gene's involvement in transcriptional regulation and its association with male infertility suggest TGIF2LY plays an essential role in spermatogenesis and reproductive development.

Sources cited
1
TGIF2LY truncating variants cause primary spermatogenic failure and male infertility
PMID: 38614076
2
TGIF2LY is highly expressed in undifferentiated embryonic stem cells rather than differentiated embryoid bodies
PMID: 33650819
3
TGIF2LY shows elevated expression in infertile patients with endometriosis compared to fertile controls
PMID: 30760267
4
TGIF2LY predicted as a transcription factor regulating differentially expressed genes in pulmonary arterial hypertension
PMID: 35710932
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜4
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.27Weak
infertilityOpen Targets
0.01Suggestive
gestational diabetesOpen Targets
0.00Suggestive
pulmonary arterial hypertensionOpen Targets
0.00Suggestive
Pathogenic Variants1
NM_139214.3(TGIF2LY):c.534_535del (p.Leu179fs)Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation
β˜…β˜†β˜†β˜†2023β†’ Residue 179
View on ClinVar β†—
Related Genes
PCDH11XProtein interaction93%TGIF2LXProtein interaction93%PABPC5Protein interaction93%TGFBIProtein interaction85%PCDH11YProtein interaction70%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
TGIF2LYPCDH11XTGIF2LXPABPC5TGFBIPCDH11Y
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IUE0
View on AlphaFold β†—
RankingsWhere TGIF2LY stands among ~20K protein-coding genes
  • #15,713of 20,598
    Most Researched15
  • #5,437of 5,498
    Most Pathogenic Variants1
Genes detectedTGIF2LY
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Toward clinical exomes in diagnostics and management of male infertility.
PMID: 38614076
Am J Hum Genet Β· 2024
1.00
2
Integrated bioinformatics analysis reveals marker genes and immune infiltration for pulmonary arterial hypertension.
PMID: 35710932
Sci Rep Β· 2022
0.75
3
Genomic evidence of Y chromosome microchimerism in the endometrium during endometriosis and in cases of infertility.
PMID: 30760267
Reprod Biol Endocrinol Β· 2019
0.50
4
The Contribution of Y Chromosome Genes to Spontaneous Differentiation of Human Embryonic Stem Cells into Embryoid Bodies
PMID: 33650819
Cell J Β· 2021
0.25