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GeneE
2 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.
AMDHD2
amidohydrolase domain containing 2
Chromosome 16 Β· 16p13.3
NCBI Gene: 51005Ensembl: ENSG00000162066.16HGNC: HGNC:24262UniProt: A0A3B3IU33
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
N-acetylgalactosamine-6-phosphate deacetylase activityprotein bindingN-acetylglucosamine-6-phosphate deacetylase activitynucleusneurodegenerative diseasejoint diseasekidney failureobesity due to SIM1 deficiency
✦AI Summary

Based on limited published evidence, AMDHD2 is an amidohydrolase domain-containing protein that hydrolyzes the N-glycolyl group from N-glycolylglucosamine 6-phosphate in the Neu5Gc degradation pathway 1. AMDHD2 functions as an N-acetylglucosamine deacetylase that catalyzes a reverse reaction in the hexosamine biosynthetic pathway, balancing GFPT2 activity to limit UDP-GlcNAc production in cells expressing GFPT2 1. The protein localizes to the nucleus and cytosol. Additionally, AMDHD2 exhibits sex-specific DNA methylation patterns, with significantly higher methylation in females 2.

Sources cited
1
AMDHD2 is an N-acetylglucosamine deacetylase that catalyzes a reverse reaction in the hexosamine biosynthetic pathway and balances GFPT2 activity to limit UDP-GlcNAc production
PMID: 35229715
2
AMDHD2 shows robust sex-specific DNA methylation differences, with 30.6% higher methylation in female children compared to males
PMID: 37300819
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.31Weak
joint diseaseOpen Targets
0.08Suggestive
kidney failureOpen Targets
0.06Suggestive
obesity due to SIM1 deficiencyOpen Targets
0.03Suggestive
emphysemaOpen Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
dental cariesOpen Targets
0.00Suggestive
epilepsyOpen Targets
0.00Suggestive
immune system diseaseOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
GNEProtein interaction90%GNPDA2Protein interaction88%GCKRProtein interaction87%PIGLProtein interaction86%GFPT1Protein interaction82%PGM3Protein interaction82%
Tissue Expression6 tissues
Lung
100%
Liver
93%
Ovary
80%
Bone Marrow
78%
Brain
35%
Heart
27%
Gene Interaction Network
Click a node to explore
AMDHD2GNEGNPDA2GCKRPIGLGFPT1PGM3
PROTEIN STRUCTURE
Preparing viewer…
PDB7NUU Β· 1.84 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.87LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.62 [0.45–0.87]
RankingsWhere AMDHD2 stands among ~20K protein-coding genes
  • #13,600of 20,598
    Most Researched22
  • #7,642of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedAMDHD2
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
GFPT2/GFAT2 and AMDHD2 act in tandem to control the hexosamine pathway.
PMID: 35229715
Elife Β· 2022
1.00
2
Sex-specific DNA methylation in saliva from the multi-ethnic Future of Families and Child Wellbeing Study.
PMID: 37300819
Epigenetics Β· 2023
0.50