Aliases for AMDHD2 Gene

Aliases for AMDHD2 Gene

  • Amidohydrolase Domain Containing 2 2 3 5
  • N-Acetylglucosamine-6-Phosphate Deacetylase 2 3 4
  • Amidohydrolase Domain-Containing Protein 2 3 4
  • GlcNAc 6-P Deacetylase 3 4
  • EC 3.5.1.25 4 51
  • CGI-14 2 3
  • Putative N-Acetylglucosamine-6-Phosphate Deacetylase 3
  • AMDHD2 5

External Ids for AMDHD2 Gene

Previous GeneCards Identifiers for AMDHD2 Gene

  • GC16P002511
  • GC16P002570
  • GC16P002529
  • GC16P002539
  • GC16P003624
  • GC16P003794
  • GC16P003869
  • GC16P004043
  • GC16P002550
  • GC16P002559
  • GC16P002561
  • GC16P002568
  • GC16P002896
  • GC16P002938
  • GC16P002985
  • GC16P003515

Summaries for AMDHD2 Gene

GeneCards Summary for AMDHD2 Gene

AMDHD2 (Amidohydrolase Domain Containing 2) is a Protein Coding gene. Diseases associated with AMDHD2 include Tick-Borne Relapsing Fever and Eumycotic Mycetoma. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. 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 Summary 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 , Rfam classification and piRNA Summary for AMDHD2 Gene

Genomics for AMDHD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AMDHD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMDHD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMDHD2

Top Transcription factor binding sites by QIAGEN in the AMDHD2 gene promoter:
  • ATF
  • CREB
  • CUTL1
  • Elk-1
  • FOXO3
  • p53
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

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)
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; 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for AMDHD2 Gene

Gene Families for AMDHD2 Gene

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

Protein Domains for AMDHD2 Gene

InterPro:
Blocks:
  • Amidohydrolase-like
  • Amidohydrolase 3
ProtoNet:

Suggested Antigen Peptide Sequences for AMDHD2 Gene

GenScript: Design optimal peptide antigens:
  • GlcNAc 6-P deacetylase (NAGA_HUMAN)

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-acetyl-D-glucosamine 6-phosphate = acetate + D-glucosamine 6-phosphate; Xref=Rhea:RHEA:22936, ChEBI:CHEBI:15377, ChEBI:CHEBI:30089, ChEBI:CHEBI:57513, ChEBI:CHEBI:58725; EC=3.5.1.25; Evidence={ECO:0000269|PubMed:22692205};.

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 IEA,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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMDHD2

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
cytosol 5
nucleus 4
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1
golgi apparatus 1
endoplasmic reticulum 0

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 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 21873635
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
acetic acid Approved Pharma Agonist, Full agonist 139
Water Approved Pharma 0
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
  • 2-acetamido-2-Deoxy-6-O-phosphono-D-glucopyranose
  • N-Acetyl-D-glucosamine 6-phosphoric acid
  • N-Acetyl-D-glucosamine-6-P
  • N-Acetyl-D-glucosamine-6-phosphate
  • N-Acetyl-glucosamine-6-P
18191-20-3
genes like me logo Genes that share compounds with AMDHD2: view

Transcripts for AMDHD2 Gene

mRNA/cDNA for AMDHD2 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMDHD2

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

Expression for AMDHD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMDHD2

SOURCE GeneReport for Unigene cluster for AMDHD2 Gene:

Hs.740430

Evidence on tissue expression from TISSUES for AMDHD2 Gene

  • Skin(4.3)
  • 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 30 31
  • 99.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AMDHD2 30 31
  • 88.97 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia AMDHD2 30
  • 86.71 (n)
-- 31
  • 70 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Amdhd2 30 17 31
  • 86.24 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Amdhd2 30
  • 85.91 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 75 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 72 (a)
OneToMany
Chicken
(Gallus gallus)
Aves AMDHD2 30
  • 71.07 (n)
-- 31
  • 71 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 69 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia amdhd2 30
  • 66.91 (n)
Zebrafish
(Danio rerio)
Actinopterygii amdhd2 30 31
  • 66.25 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG17065 30 31
  • 63.78 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002347 30
  • 60.87 (n)
Worm
(Caenorhabditis elegans)
Secernentea CELE_F59B2.3 30
  • 51.69 (n)
F59B2.3 31
  • 49 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU04725 30
  • 48.76 (n)
Species where no ortholog for AMDHD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for AMDHD2: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMDHD2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs1220386463 A colorectal cancer sample p.Asp294Asn

Additional dbSNP identifiers (rs#s) for AMDHD2 Gene

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

MalaCards: The human disease database

(3) MalaCards diseases for AMDHD2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
tick-borne relapsing fever
  • relapsing fever, tick-borne
eumycotic mycetoma
  • eumycetoma
dermatomycosis
  • dermatomycoses
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with AMDHD2: view

No data available for 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
  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
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. (PMID: 29892012) Chen S … Yu H (Nature genetics 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for AMDHD2 Gene

  • Signalway Proteins for AMDHD2

Sources for AMDHD2 Gene