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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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GALNTL5
polypeptide N-acetylgalactosaminyltransferase like 5
Chromosome 7 Β· 7q36.1
NCBI Gene: 168391Ensembl: ENSG00000106648.15HGNC: HGNC:21725UniProt: Q7Z4T8
21PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
glycosyltransferase activityglycoprotein biosynthetic processspermatid developmentGolgi apparatusPhenotypic abnormalityHodgkins lymphomamale infertilityhyperpituitarism
✦AI Summary

GALNTL5 is a testis-specific glycosyltransferase-like protein essential for male reproductive function. Primary function: GALNTL5 localizes to the sperm neck region and acrosome during spermatid development, where it binds N-acetylgalactosamine (GalNAc) 1. Mechanism: The protein is required for proper acrosomal protein loading and ubiquitin-proteasome system localization 2. GALNTL5 mediates sperm binding to the zona pellucida and uterotubal junction through GalNAc interactions, enabling sperm migration and fertilization 1. Disease relevance: GALNTL5 mutations cause asthenozoospermia (reduced sperm motility) and male infertility by impairing glycolytic enzyme abundance and sperm motility 23. Heterozygous and homozygous mutations both reduce fertility significantly 4. Additionally, genomic deletions in GALNTL5 associate with increased risk of arsenic-induced skin lesions 5, and the gene shows altered expression in kidney disease and certain cancers, though its role in these contexts remains unclear 67. Clinical significance: GALNTL5 genetic screening and targeted sperm selection enable reproductive success in affected patients via intracytoplasmic sperm injection 3.

Sources cited
1
GALNTL5 binds GalNAc and is required for sperm migration through uterotubal junction and zona pellucida binding
PMID: 40962834
2
Heterozygous GALNTL5 mutation causes asthenozoospermia by affecting sperm motility, glycolytic enzymes, acrosomal protein loading, and ubiquitin-proteasome localization
PMID: 24398516
3
GALNTL5 mutations detected in infertile men with asthenozoospermia; successful reproduction achieved through sperm selection and ICSI
PMID: 30628500
4
GALNTL5 reclassified from limited to moderate evidence for male infertility in updated gene panel study
PMID: 38664359
5
GALNTL5 genomic deletions associated with higher risk of arsenic-induced skin lesions
PMID: 28720099
6
GALNTL5 identified as prioritized gene for kidney function decline in genome-wide association study meta-analysis
PMID: 35716955
7
GALNTL5 identified as Cancer/Testis gene expressed in germ cells and testis
PMID: 33426787
Disease Associationsβ“˜20
Phenotypic abnormalityOpen Targets
0.32Weak
Hodgkins lymphomaOpen Targets
0.30Weak
male infertilityOpen Targets
0.29Weak
hyperpituitarismOpen Targets
0.28Weak
azoospermiaOpen Targets
0.11Weak
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
spermatogenic failure 56Open Targets
0.07Suggestive
spermatogenic failure 92Open Targets
0.07Suggestive
spermatogenic failure 94Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.07Suggestive
spermatogenic failure 40Open Targets
0.07Suggestive
spermatogenic failure 76Open Targets
0.07Suggestive
spermatogenic failure 80Open Targets
0.07Suggestive
spermatogenic failure 10Open Targets
0.07Suggestive
spermatogenic failure 11Open Targets
0.07Suggestive
spermatogenic failure 47Open Targets
0.07Suggestive
spermatogenic failure 58Open Targets
0.07Suggestive
Pathogenic Variants1
NM_145292.4(GALNTL5):c.153dup (p.Val52fs)Likely pathogenic
Male infertility
β˜†β˜†β˜†β˜†2021β†’ Residue 52
View on ClinVar β†—
Related Genes
B3GNT6Protein interaction96%GCNT1Protein interaction91%C1GALT1C1Protein interaction91%ST6GALNAC1Protein interaction91%C1GALT1Protein interaction91%SPANXB1Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
4%
Ovary
2%
Liver
2%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
GALNTL5B3GNT6GCNT1C1GALT1C1ST6GALNAC1C1GALT1SPANXB1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q7Z4T8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.08LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.62–1.08]
RankingsWhere GALNTL5 stands among ~20K protein-coding genes
  • #13,914of 20,598
    Most Researched21
  • #5,362of 5,498
    Most Pathogenic Variants1
  • #10,984of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedGALNTL5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
GALNTL5 binds GalNAc and is required for migration through the uterotubal junction and sperm-zona pellucida binding.
PMID: 40962834
Nat Commun Β· 2025
1.00
2
Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies.
PMID: 35716955
Kidney Int Β· 2022
0.90
3
Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility.
PMID: 38664359
Reprod Sci Β· 2024
0.80
4
Mutation of
PMID: 30628500
Hum Fertil (Camb) Β· 2020
0.70
5
A heterozygous mutation of GALNTL5 affects male infertility with impairment of sperm motility.
PMID: 24398516
Proc Natl Acad Sci U S A Β· 2014
0.60