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Aliases for AMDHD2 Gene

Aliases for AMDHD2 Gene

  • Amidohydrolase Domain Containing 2 2 3 5
  • N-Acetylglucosamine-6-Phosphate Deacetylase 2 3
  • Amidohydrolase Domain-Containing Protein 2 3 4
  • GlcNAc 6-P Deacetylase 3 4
  • EC 3.5.1.25 4 61
  • Putative N-Acetylglucosamine-6-Phosphate Deacetylase 3
  • CGI-14 3

External Ids for AMDHD2 Gene

Previous GeneCards Identifiers for AMDHD2 Gene

  • GC16P002511
  • GC16P002570
  • GC16P002529
  • GC16P002539
  • GC16P002550
  • GC16P002559

Summaries for AMDHD2 Gene

GeneCards Summary for AMDHD2 Gene

AMDHD2 (Amidohydrolase Domain Containing 2) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Amino sugar and nucleotide sugar metabolism. GO annotations related to this gene include hydrolase activity and 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

Regulatory Elements for AMDHD2 Gene

Enhancers for AMDHD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F002485 1.2 FANTOM5 Ensembl ENCODE 8.8 -33.1 -33098 2.9 PKNOX1 ARNT WRNIP1 ARID4B SIN3A ZNF48 YY1 SLC30A9 GLIS2 ZNF143 TBC1D24 ENSG00000226890 ENSG00000200059 ENSG00000261240 AMDHD2 PDPK1 GC16P002483 ENSG00000260272
GH16F002602 1.6 ENCODE 7.4 +83.3 83260 1.7 PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ENSG00000226890 ENSG00000200059 ENSG00000261240 THOC6 TBC1D24 ZNF205 ZNF598 SNHG19 TRAF7 LOC105371055
GH16F003004 1.3 FANTOM5 ENCODE 5.3 +487.7 487729 7.9 HDGF PKNOX1 ARNT MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 MMP25 LOC107984895 CREBBP ZNF597 THOC6 ZNF263 LOC105371055 SNORD60 BICDL2 CLDN9
GH16F002550 0.9 Ensembl ENCODE 4.8 +30.9 30941 1.8 SAP130 TEAD4 ZMYM3 ARID4B ZNF384 CEBPG TEAD3 SCRT2 ZNF362 TEAD1 AMDHD2 ENSG00000261288 PDPK1
GH16F002529 1.2 FANTOM5 ENCODE 1.9 +11.5 11490 3.8 HDGF ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 PAF1 ZNF263 TBC1D24 LOC652276 ATP6V0C CEMP1 PDPK1 AMDHD2 SRRM2 E4F1 RAB26 GC16P002786
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AMDHD2 on UCSC Golden Path with GeneCards custom track

Promoters for AMDHD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001799023 343 1401 ATF1 PKNOX1 ARID4B SIN3A DMAP1 BRCA1 FOS KDM4B REST KAT8

Genomic Location for AMDHD2 Gene

Chromosome:
16
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

Genes around AMDHD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMDHD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMDHD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMDHD2 Gene

Proteins for AMDHD2 Gene

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

    Protein Symbol:
    Q9Y303-NAGA_HUMAN
    Recommended name:
    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;
    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

Post-translational modifications for AMDHD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for AMDHD2 Gene

Suggested Antigen Peptide Sequences for AMDHD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y303

UniProtKB/Swiss-Prot:

NAGA_HUMAN :
  • Belongs to the NagA family.
Family:
  • Belongs to the NagA family.
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 TAS --
GO:0016787 hydrolase activity IEA --
GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AMDHD2: view
genes like me logo Genes that share phenotypes with AMDHD2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AMDHD2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
nucleus 5
cytosol 3
mitochondrion 2
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for AMDHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AMDHD2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for AMDHD2 Gene

Pathways & Interactions for AMDHD2 Gene

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

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:0006046 N-acetylglucosamine catabolic process IBA --
GO:0006048 UDP-N-acetylglucosamine biosynthetic process TAS --
GO:0019262 N-acetylneuraminate catabolic process TAS 22692205
genes like me logo Genes that share ontologies with AMDHD2: view

No data available for SIGNOR curated interactions for AMDHD2 Gene

Drugs & Compounds for AMDHD2 Gene

(3) Drugs for AMDHD2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 107
glucosamine 6-phosphate Experimental Pharma 0

(1) Additional Compounds for AMDHD2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetyl-D-Glucosamine 6-Phosphate
  • N-Acetyl-D-Glucosamine 6-Phosphate
  • N-Acetyl-D-glucosamine-6-p
  • N-Acetyl-D-glucosamine-6-phosphate
  • N-Acetyl-glucosamine-6-p
  • N-Acetyl-glucosamine-6-phosphate
102029-88-9
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:

Inhibitory RNA Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for AMDHD2 Gene

This gene is overexpressed in Uterus (7.5) and Spleen (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AMDHD2 Gene



Protein tissue co-expression partners for AMDHD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AMDHD2 Gene:

AMDHD2

SOURCE GeneReport for Unigene cluster for AMDHD2 Gene:

Hs.740430
genes like me logo Genes that share expression patterns with AMDHD2: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AMDHD2 Gene

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 34 35
  • 99.32 (n)
cow
(Bos Taurus)
Mammalia AMDHD2 34 35
  • 88.97 (n)
dog
(Canis familiaris)
Mammalia AMDHD2 34
  • 86.71 (n)
-- 35
  • 70 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Amdhd2 34 16 35
  • 86.24 (n)
rat
(Rattus norvegicus)
Mammalia Amdhd2 34
  • 85.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 75 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves AMDHD2 34
  • 71.07 (n)
-- 35
  • 71 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia amdhd2 34
  • 66.91 (n)
zebrafish
(Danio rerio)
Actinopterygii amdhd2 34 35
  • 66.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17065 34 35
  • 63.78 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002347 34
  • 60.87 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_F59B2.3 34
  • 51.69 (n)
F59B2.3 35
  • 49 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU04725 34
  • 48.76 (n)
Species where no ortholog for AMDHD2 was found in the sources mined by GeneCards:
  • 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
VAR_038301 A colorectal cancer sample
rs111278182 -- 2,530,545(+) ATTTG(A/C)GTTCT reference, missense, utr-variant-3-prime
rs111306148 -- 2,528,792(+) GTGCC(C/T)GGACT intron-variant
rs111362761 -- 2,525,631(+) GCTCC(A/G)CCTCC intron-variant
rs111554595 -- 2,522,549(+) GCGCC(C/T)ACCTG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2422427 CNV duplication 17116639
esv2760067 CNV gain+loss 17122850
nsv1052260 CNV gain 25217958
nsv1121904 CNV deletion 24896259
nsv833122 CNV loss 17160897

Variation tolerance for AMDHD2 Gene

Residual Variation Intolerance Score: 10.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.89; 18.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AMDHD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMDHD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMDHD2 Gene

Disorders for AMDHD2 Gene

Relevant External Links for AMDHD2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMDHD2

No disorders were found for AMDHD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 64
  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 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for AMDHD2 Gene

Sources for AMDHD2 Gene

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