• Gene id: 51005

Gene Summary

• Gene Symbol: AMDHD2   Gene   UCSC   Ensembl
• Aliases: CGI-14
• Gene name: amidohydrolase domain containing 2
• Alternate names: N-acetylglucosamine-6-phosphate deacetylase, amidohydrolase domain-containing protein 2, glcNAc 6-P deacetylase, putative N-acetylglucosamine-6-phosphate deacetylase,
• Gene location: 16p13.3 (2520361: 2531421)     Exons: 10     NC_000016.10
• OMIM: 608023

Protein Summary

• Protein general information: Q9Y303  
  • Name: N acetylglucosamine 6 phosphate deacetylase (GlcNAc 6 P deacetylase) (EC 3.5.1.25) (Amidohydrolase domain containing protein 2)
  • Length: 409  
  • Mass: 43748
• Sequence:

  MRGEQGAAGARVLQFTNCRILRGGKLLREDLWVRGGRILDPEKLFFEERRVADERRDCGGRILAPGFIDVQINGG
  FGVDFSQATEDVGSGVALVARRILSHGVTSFCPTLVTSPPEVYHKVVPQIPVKSGGPHGAGVLGLHLEGPFISRE
  KRGAHPEAHLRSFEADAFQDLLATYGPLDNVRIVTLAPELGRSHEVIRALTARGICVSLGHSVADLRAAEDAVWS
  GATFITHLFNAMLPFHHRDPGIVGLLTSDRLPAGRCIFYGMIADGTHTNPAALRIAHRAHPQGLVLVTDAIPALG
  LGNGRHTLGQQEVEVDGLTAYVAGTKTLSGSIAPMDVCVRHFLQATGCSMESALEAASLHPAQLLGLEKSKGTLD
  FGADADFVVLDDSLHVQATYISGELVWQADAARQ

• Structural information:
  • Interpro: IPR006680  IPR003764  IPR011059  IPR032466  
  • CDD: cd00854
  • STRING: ENSP00000391596
• Other Databases: GeneCards:  AMDHD2  Malacards:  AMDHD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008448	N-acetylglucosamine-6-phosphate deacetylase activity	IBA	molecular function
GO:0006046	N-acetylglucosamine catabolic process	IBA	biological process
GO:0008448	N-acetylglucosamine-6-phosphate deacetylase activity	IDA	molecular function
GO:0019262	N-acetylneuraminate catabolic process	TAS	biological process
GO:0006044	N-acetylglucosamine metabolic process	IEA	biological process
GO:0008448	N-acetylglucosamine-6-phosphate deacetylase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016810	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0047419	N-acetylgalactosamine-6-phosphate deacetylase activity	IEA	molecular function
GO:0008448	N-acetylglucosamine-6-phosphate deacetylase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	TAS	biological process
GO:0008448	N-acetylglucosamine-6-phosphate deacetylase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019262	N-acetylneuraminate catabolic process	IEA	biological process
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00520	Amino sugar and nucleotide sugar metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq