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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 56
  • 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
  • GC16P002561
  • GC16P002568
  • GC16P002896

Summaries for AMDHD2 Gene

GeneCards Summary for AMDHD2 Gene

AMDHD2 (Amidohydrolase Domain Containing 2) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (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.

Additional gene information for AMDHD2 Gene

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

Genomics for AMDHD2 Gene

GeneHancer (GH) Regulatory Elements for AMDHD2 Gene

Promoters and enhancers for AMDHD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I002511 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 -3.9 -3904 10.7 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ATP6V0C AMDHD2 ENSG00000279520 ZNF75A TBC1D24 IFT140 ZNF213-AS1 CRAMP1 ERVK13-1 SNHG19
GH16I002266 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 54.4 -252.1 -252145 3.2 ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 GLIS1 RNPS1 LOC106660606 GC16M002266 GC16M002267 ZNF263 ENSG00000260051 ENSG00000261505 E4F1 AMDHD2 TSC2
GH16I002147 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 32.2 -364.6 -364567 17.4 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 TRAF7 SNORD60 SNHG19 ENSG00000281010 GC16M002156 GC16M002158 RAB26 ENSG00000261505 ENSG00000260051 SRRM2
GH16I003003 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 39.4 +487.5 487459 8.4 HDGF HNRNPUL1 PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A LOC107984895 LOC105371056 CREBBP ZNF597 MMP25 AMDHD2 SRRM2 ZNF598 ZNF263 ZNF200
GH16I001962 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 32 -556.1 -556135 4.1 HDGF HNRNPUL1 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ENSG00000255513 SNORA64 SNHG9 RPS2 GC16M001962 GC16M001963 GC16M001965 GC16M001966 GC16P001995 GC16P002197
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AMDHD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AMDHD2 gene promoter:

Genomic Locations for AMDHD2 Gene

Genomic Locations for AMDHD2 Gene
chr16:2,520,357-2,531,422
(GRCh38/hg38)
Size:
11,066 bases
Orientation:
Plus strand
chr16:2,570,358-2,581,423
(GRCh37/hg19)

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

Selected DME Specific Peptides for AMDHD2 Gene

Q9Y303:
  • GRHTLGQQ
  • PQIPVKSGGPHGAGVLG
  • LLREDLWVRGGRILDPEKLFFEERRVADE
  • GVTSFCPTLVTSP
  • PAALRIA
  • THLFNAM
  • ATYISGELVWQ
  • QFTNCRILRGG

Post-translational modifications for AMDHD2 Gene

No Post-translational modifications

Domains & Families for AMDHD2 Gene

Gene Families for AMDHD2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

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 metallo-dependent hydrolases superfamily. NagA family.
Family:
  • Belongs to the metallo-dependent hydrolases superfamily. NagA family.
genes like me logo Genes that share domains with AMDHD2: view

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

Phenotypes From GWAS Catalog 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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMDHD2 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AMDHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,HDA 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 116
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
18191-20-3
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for AMDHD2 Gene

  • Skin(4.2)
  • Adrenal gland(2.5)
genes like me logo Genes that share expression patterns with AMDHD2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.32 (n)
cow
(Bos Taurus)
Mammalia AMDHD2 33 34
  • 88.97 (n)
dog
(Canis familiaris)
Mammalia AMDHD2 33
  • 86.71 (n)
-- 34
  • 70 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Amdhd2 33 16 34
  • 86.24 (n)
rat
(Rattus norvegicus)
Mammalia Amdhd2 33
  • 85.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves AMDHD2 33
  • 71.07 (n)
-- 34
  • 71 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia amdhd2 33
  • 66.91 (n)
zebrafish
(Danio rerio)
Actinopterygii amdhd2 33 34
  • 66.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17065 33 34
  • 63.78 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002347 33
  • 60.87 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_F59B2.3 33
  • 51.69 (n)
F59B2.3 34
  • 49 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU04725 33
  • 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 Variation AA Info Type
VAR_038301 A colorectal cancer sample p.Asp294Asn
rs1000559638 -- 2,529,814(+) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000632820 -- 2,528,883(+) C/T intron_variant
rs1001340209 -- 2,521,279(+) C/T intron_variant
rs1001497812 -- 2,524,364(+) C/T 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)

Additional Variant Information 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

Additional Disease Information for 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 CH … Lin W (Genome research 2000) 2 3 4 58
  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 AK … Varki A (The Journal of biological chemistry 2012) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58

Products for AMDHD2 Gene

Sources for AMDHD2 Gene

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