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Aliases for AMDHD2 Gene

Aliases for AMDHD2 Gene

  • Amidohydrolase Domain Containing 2 2 3
  • Amidohydrolase Domain-Containing Protein 2 3 4
  • GlcNAc 6-P Deacetylase 3 4
  • EC 3.5.1.25 4 64
  • Putative N-Acetylglucosamine-6-Phosphate Deacetylase 3
  • CGI-14 3

External Ids for AMDHD2 Gene

Summaries for AMDHD2 Gene

GeneCards Summary for AMDHD2 Gene

AMDHD2 (Amidohydrolase Domain Containing 2) is a Protein Coding gene. Among its related pathways are Amino sugar and nucleotide sugar metabolism and Amino sugar and nucleotide sugar metabolism. GO annotations related to this gene include N-acetylglucosamine-6-phosphate deacetylase activity. An important paralog of this gene is ENSG00000259784.

UniProtKB/Swiss-Prot for AMDHD2 Gene

  • Hydrolyzes the N-glycolyl group from N-glycolylglucosamine 6-phosphate (GlcNGc-6-P) in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMDHD2 Gene

Genomics for AMDHD2 Gene

Genomic Location for AMDHD2 Gene

Start:
2,520,357 bp from pter
End:
2,531,422 bp from pter
Size:
11,066 bases
Orientation:
Plus strand

Genomic View for AMDHD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AMDHD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMDHD2 Gene

Regulatory Elements for AMDHD2 Gene

Proteins for AMDHD2 Gene

  • Protein details for AMDHD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y303-NAGA_HUMAN
    Recommended name:
    Putative N-acetylglucosamine-6-phosphate deacetylase
    Protein Accession:
    Q9Y303
    Secondary Accessions:
    • B4DL77
    • Q8WV54

    Protein attributes for AMDHD2 Gene

    Size:
    409 amino acids
    Molecular mass:
    43748 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240; Note=Binds 1 divalent metal cation per subunit.;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD27723.1; Type=Frameshift; Positions=5, 7, 11, 103, 113, 117, 192, 194, 195, 202, 205; Evidence={ECO:0000305};

    Alternative splice isoforms for AMDHD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMDHD2 Gene

Proteomics data for AMDHD2 Gene at MOPED

Post-translational modifications for AMDHD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for AMDHD2 Gene

Protein Domains for AMDHD2 Gene

UniProtKB/Swiss-Prot:

NAGA_HUMAN
Family:
  • Belongs to the NagA family.:
    • Q9Y303
genes like me logo Genes that share domains with AMDHD2: view

No data available for Gene Families for AMDHD2 Gene

Function for AMDHD2 Gene

Molecular function for AMDHD2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: N-acetyl-D-glucosamine 6-phosphate + H(2)O = D-glucosamine 6-phosphate + acetate.
UniProtKB/Swiss-Prot Function: Hydrolyzes the N-glycolyl group from N-glycolylglucosamine 6-phosphate (GlcNGc-6-P) in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded.

Enzyme Numbers (IUBMB) for AMDHD2 Gene

Gene Ontology (GO) - Molecular Function for AMDHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008448 N-acetylglucosamine-6-phosphate deacetylase activity IDA 22692205
GO:0016787 hydrolase activity --
GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AMDHD2: view

miRNA for AMDHD2 Gene

miRTarBase miRNAs that target AMDHD2

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for AMDHD2 Gene

Localization for AMDHD2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMDHD2 Gene COMPARTMENTS Subcellular localization image for AMDHD2 gene
Compartment Confidence
mitochondrion 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for AMDHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
genes like me logo Genes that share ontologies with AMDHD2: view

Pathways for AMDHD2 Gene

genes like me logo Genes that share pathways with AMDHD2: view

Pathways by source for AMDHD2 Gene

UniProtKB/Swiss-Prot Q9Y303-NAGA_HUMAN

  • Pathway: Amino-sugar metabolism; N-acetylneuraminate degradation.

Gene Ontology (GO) - Biological Process for AMDHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006044 N-acetylglucosamine metabolic process IEA --
GO:0008152 metabolic process --
GO:0019262 N-acetylneuraminate catabolic process TAS 22692205
genes like me logo Genes that share ontologies with AMDHD2: view

Compounds for AMDHD2 Gene

(4) HMDB Compounds for AMDHD2 Gene

Compound Synonyms Cas Number PubMed IDs
Acetic acid
  • Acetate
64-19-7
Glucosamine 6-phosphate
  • 2-Amino-2-deoxy-D-glucose 6-phosphate
3616-42-0
N-Acetyl-D-Glucosamine 6-Phosphate
  • N-Acetyl-D-Glucosamine 6-Phosphate
102029-88-9
Water
  • Dihydrogen oxide
7732-18-5
genes like me logo Genes that share compounds with AMDHD2: view

Transcripts for AMDHD2 Gene

Unigene Clusters for AMDHD2 Gene

Amidohydrolase domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AMDHD2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c
SP1: - -
SP2: -
SP3: - - -
SP4: - -
SP5: - - -
SP6: - - -
SP7:
SP8: -
SP9:
SP10: -

Relevant External Links for AMDHD2 Gene

GeneLoc Exon Structure for
AMDHD2
ECgene alternative splicing isoforms for
AMDHD2

Expression for AMDHD2 Gene

mRNA expression in normal human tissues for AMDHD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AMDHD2 Gene

SOURCE GeneReport for Unigene cluster for AMDHD2 Gene Hs.740430

genes like me logo Genes that share expressions with AMDHD2: view

Orthologs for AMDHD2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AMDHD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMDHD2 36
  • 99.32 (n)
  • 99.77 (a)
AMDHD2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AMDHD2 36
  • 88.97 (n)
  • 92.16 (a)
AMDHD2 37
  • 91 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 70 (a)
OneToMany
AMDHD2 36
  • 86.71 (n)
  • 90.21 (a)
mouse
(Mus musculus)
Mammalia Amdhd2 36
  • 86.24 (n)
  • 91.15 (a)
Amdhd2 16
Amdhd2 37
  • 89 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 75 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Amdhd2 36
  • 85.91 (n)
  • 90.91 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 71 (a)
OneToMany
AMDHD2 36
  • 71.07 (n)
  • 72.88 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia amdhd2 36
  • 66.91 (n)
  • 70.94 (a)
zebrafish
(Danio rerio)
Actinopterygii amdhd2 36
  • 66.25 (n)
  • 68.49 (a)
amdhd2 37
  • 68 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002347 36
  • 60.87 (n)
  • 60.71 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17065 36
  • 63.78 (n)
  • 59.8 (a)
CG17065 37
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_F59B2.3 36
  • 51.69 (n)
  • 52.03 (a)
F59B2.3 37
  • 49 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU04725 36
  • 48.76 (n)
  • 40.55 (a)
Species with no ortholog for AMDHD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AMDHD2 Gene

ENSEMBL:
Gene Tree for AMDHD2 (if available)
TreeFam:
Gene Tree for AMDHD2 (if available)

Paralogs for AMDHD2 Gene

Paralogs for AMDHD2 Gene

genes like me logo Genes that share paralogs with AMDHD2: view

Variants for AMDHD2 Gene

Sequence variations from dbSNP and Humsavar for AMDHD2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs8049583 -- 2,522,575(+) gggag(A/G)ctgag intron-variant
rs8049616 -- 2,522,634(+) attgc(A/G)ccact intron-variant
rs8050848 -- 2,522,590(+) gagaa(C/T)cgctt intron-variant
rs8050862 -- 2,522,617(+) ggttg(C/T)agtga intron-variant
rs8051808 -- 2,522,818(+) cCATC(A/G)TGCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AMDHD2 Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv2545n71 CNV Loss 21882294
nsv905139 CNV Loss 21882294
dgv2569n71 CNV Loss 21882294
dgv2570n71 CNV Loss 21882294
nsv905149 CNV Loss 21882294
nsv905152 CNV Loss 21882294
nsv905153 CNV Loss 21882294
dgv793e1 CNV Complex 17122850
nsv833122 CNV Loss 17160897
dgv2571n71 CNV Loss 21882294

Relevant External Links for AMDHD2 Gene

HapMap Linkage Disequilibrium report
AMDHD2

Disorders for AMDHD2 Gene

(1) University of Copenhagen DISEASES for AMDHD2 Gene

genes like me logo Genes that share disorders with AMDHD2: view

No data available for UniProtKB/Swiss-Prot for AMDHD2 Gene

Publications for AMDHD2 Gene

  1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 2 3 4
  2. Metabolism of vertebrate amino sugars with N-glycolyl groups: elucidating the intracellular fate of the non-human sialic acid N- glycolylneuraminic acid. (PMID: 22692205) Bergfeld A.K. … Varki A. (J. Biol. Chem. 2012) 3 4
  3. A COFRADIC protocol to study protein ubiquitination. (PMID: 24816145) Stes E. … Gevaert K. (J. Proteome Res. 2014) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4

Products for AMDHD2 Gene

Sources for AMDHD2 Gene

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