This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] See more...

Aliases for GDA Gene

Aliases for GDA Gene

  • Guanine Deaminase 2 3 4 5
  • Guanine Aminohydrolase 3 4
  • Guanine Aminase 3 4
  • P51-Nedasin 3 4
  • EC 3.5.4.3 4 52
  • GAH 3 4
  • Cytoplasmic PSD95 Interactor 3
  • KIAA1258 4
  • GUANASE 3
  • NEDASIN 3
  • Guanase 4
  • CYPIN 3

External Ids for GDA Gene

Previous GeneCards Identifiers for GDA Gene

  • GC09P065808
  • GC09P066620
  • GC09P068299
  • GC09P070221
  • GC09P071993
  • GC09P073954
  • GC09P074764
  • GC09P044586
  • GC09P074729

Summaries for GDA Gene

Entrez Gene Summary for GDA Gene

  • This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

GeneCards Summary for GDA Gene

GDA (Guanine Deaminase) is a Protein Coding gene. Diseases associated with GDA include Purine-Pyrimidine Metabolic Disorder. Among its related pathways are Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include hydrolase activity and guanine deaminase activity.

UniProtKB/Swiss-Prot Summary for GDA Gene

  • Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia.

Additional gene information for GDA Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GDA Gene

Genomics for GDA Gene

GeneHancer (GH) Regulatory Elements for GDA Gene

Promoters and enhancers for GDA 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 GDA on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the GDA gene promoter:
  • AREB6
  • Hlf
  • IRF-2
  • Nkx6-1
  • p53
  • PPAR-gamma1
  • PPAR-gamma2
  • S8
  • STAT3

Genomic Locations for GDA Gene

Genomic Locations for GDA Gene
chr9:72,114,595-72,259,059
(GRCh38/hg38)
Size:
144,465 bases
Orientation:
Plus strand
chr9:74,729,511-74,872,109
(GRCh37/hg19)
Size:
142,599 bases
Orientation:
Plus strand

Genomic View for GDA Gene

Genes around GDA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GDA Gene

Proteins for GDA Gene

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

    Protein Symbol:
    Q9Y2T3-GUAD_HUMAN
    Recommended name:
    Guanine deaminase
    Protein Accession:
    Q9Y2T3
    Secondary Accessions:
    • B4DTY5
    • Q5SZC7
    • Q9H335
    • Q9ULG2

    Protein attributes for GDA Gene

    Size:
    454 amino acids
    Molecular mass:
    51003 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=BAA86572.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GDA Gene

    Alternative splice isoforms for GDA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GDA Gene

Selected DME Specific Peptides for GDA Gene

Q9Y2T3:
  • LTLKEVFRLATLGGSQALGLD
  • VTPRFSLS
  • EIGNFEVGK

Post-translational modifications for GDA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for GDA
  • Santa Cruz Biotechnology (SCBT) Antibodies for GDA

Domains & Families for GDA Gene

Gene Families for GDA Gene

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

Protein Domains for GDA Gene

Blocks:
  • Amidohydrolase-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GDA Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ78887, highly similar to Guanine deaminase (EC 3.5.4.3) (B4DTY5_HUMAN)
  • p51-nedasin (GUAD_HUMAN)
  • Guanine deaminase (Q5SZC3_HUMAN)
  • Guanine aminohydrolase (Q9H335_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2T3

UniProtKB/Swiss-Prot:

GUAD_HUMAN :
  • Belongs to the metallo-dependent hydrolases superfamily. ATZ/TRZ family.
Family:
  • Belongs to the metallo-dependent hydrolases superfamily. ATZ/TRZ family.
genes like me logo Genes that share domains with GDA: view

Function for GDA Gene

Molecular function for GDA Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=guanine + H(+) + H2O = NH4(+) + xanthine; Xref=Rhea:RHEA:14665, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16235, ChEBI:CHEBI:17712, ChEBI:CHEBI:28938; EC=3.5.4.3;.

Enzyme Numbers (IUBMB) for GDA Gene

Phenotypes From GWAS Catalog for GDA Gene

Gene Ontology (GO) - Molecular Function for GDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IBA,TAS 21873635
GO:0008892 guanine deaminase activity IBA 21873635
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 GDA: view
genes like me logo Genes that share phenotypes with GDA: view

Animal Models for GDA Gene

MGI Knock Outs for GDA:
  • Gda Gda<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for GDA Gene

miRTarBase miRNAs that target GDA

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GDA Gene

Localization for GDA 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 GDA gene
Compartment Confidence
cytosol 4
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular TAS 10542258
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GDA: view

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

Pathways & Interactions for GDA Gene

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

Pathways by source for GDA Gene

UniProtKB/Swiss-Prot Q9Y2T3-GUAD_HUMAN

  • Pathway: Purine metabolism; guanine degradation; xanthine from guanine: step 1/1.

Gene Ontology (GO) - Biological Process for GDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process TAS 10075721
GO:0006147 guanine catabolic process IEA --
GO:0006195 purine nucleotide catabolic process TAS --
GO:0007399 nervous system development TAS 10542258
GO:0046098 guanine metabolic process IBA 21873635
genes like me logo Genes that share ontologies with GDA: view

No data available for SIGNOR curated interactions for GDA Gene

Drugs & Compounds for GDA Gene

(10) Drugs for GDA Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia Approved Pharma 0
Water Approved Pharma 0
Guanine Experimental Pharma 0
Xanthine Experimental Pharma 0

(7) Additional Compounds for GDA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GDA: view

Transcripts for GDA Gene

mRNA/cDNA for GDA Gene

7 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18
SP1: - - - - -
SP2: - - - -
SP3: -
SP4: - -
SP5:

Relevant External Links for GDA Gene

GeneLoc Exon Structure for
GDA

Expression for GDA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GDA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GDA Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x8.7), Brain - Frontal Cortex (BA9) (x6.9), Brain - Cortex (x5.7), Brain - Hippocampus (x4.3), Liver (x4.3), and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for GDA Gene

This gene is overexpressed in Ovary (48.7).

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



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

SOURCE GeneReport for Unigene cluster for GDA Gene:

Hs.494163

Evidence on tissue expression from TISSUES for GDA Gene

  • Nervous system(4.9)
  • Intestine(4.3)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with GDA: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GDA Gene

Orthologs for GDA Gene

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

Orthologs for GDA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GDA 31 30
  • 99.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GDA 31 30
  • 90.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GDA 31 30
  • 89.5 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gda 17 31 30
  • 88.25 (n)
rat
(Rattus norvegicus)
Mammalia Gda 30
  • 87.67 (n)
oppossum
(Monodelphis domestica)
Mammalia GDA 31
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GDA 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves GDA 31 30
  • 70.74 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GDA 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gda 30
  • 62.69 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398728 30
zebrafish
(Danio rerio)
Actinopterygii gda 31 30
  • 63.04 (n)
OneToOne
Dr.23036 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005282 30
  • 51.74 (n)
fruit fly
(Drosophila melanogaster)
Insecta DhpD 31 30
  • 51.4 (n)
OneToOne
CG18143 32
  • 43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUD1 33 31 30
  • 51.96 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D19492g 30
  • 48.81 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC1672.03c 30
  • 50.66 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07309 30
  • 46.95 (n)
Species where no ortholog for GDA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for GDA Gene

ENSEMBL:
Gene Tree for GDA (if available)
TreeFam:
Gene Tree for GDA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GDA: view image

Paralogs for GDA Gene

(7) SIMAP similar genes for GDA Gene using alignment to 6 proteins:

  • GUAD_HUMAN
  • H0YDZ7_HUMAN
  • J3QSY3_HUMAN
  • Q5SZC3_HUMAN
  • Q5SZC5_HUMAN
  • Q5SZC6_HUMAN

Pseudogenes.org Pseudogenes for GDA Gene

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

No data available for Paralogs for GDA Gene

Variants for GDA Gene

Additional dbSNP identifiers (rs#s) for GDA Gene

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

Variant ID Type Subtype PubMed ID
esv2634959 CNV deletion 19546169
esv2666473 CNV deletion 23128226
esv2738549 CNV deletion 23290073
esv3573260 CNV loss 25503493
esv3620628 CNV loss 21293372
nsv1042680 CNV loss 25217958
nsv466420 CNV loss 19166990
nsv614610 CNV loss 21841781
nsv831618 CNV loss 17160897

Variation tolerance for GDA Gene

Residual Variation Intolerance Score: 55.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.18; 39.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GDA Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GDA Gene

Disorders for GDA Gene

MalaCards: The human disease database

(1) MalaCards diseases for GDA Gene - From: DISEASES

Disorder Aliases PubMed IDs
purine-pyrimidine metabolic disorder
  • inborn errors of purine-pyrimidine metabolism
- elite association - COSMIC cancer census association via MalaCards
Search GDA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GDA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GDA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GDA Gene

Publications for GDA Gene

  1. Cloning and characterization of human guanine deaminase. Purification and partial amino acid sequence of the mouse protein. (PMID: 10075721) Yuan G … Snyder FF (The Journal of biological chemistry 1999) 2 3 4 23 54
  2. A novel NE-dlg/SAP102-associated protein, p51-nedasin, related to the amidohydrolase superfamily, interferes with the association between NE-dlg/SAP102 and N-methyl-D-aspartate receptor. (PMID: 10542258) Kuwahara H … Saya H (The Journal of biological chemistry 1999) 3 4 23 54
  3. Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project. (PMID: 20877300) Perroud N … McGuffin P (The pharmacogenomics journal 2012) 3 41 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. Alteration of enzyme specificity by computational loop remodeling and design. (PMID: 19470646) Murphy PM … Baker D (Proceedings of the National Academy of Sciences of the United States of America 2009) 4 23 54

Products for GDA Gene

Sources for GDA Gene