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Aliases for AMPD2 Gene

Aliases for AMPD2 Gene

  • Adenosine Monophosphate Deaminase 2 2 3 5
  • Adenosine Monophosphate Deaminase 2 (Isoform L) 2 3
  • EC 3.5.4.6 4 61
  • AMP Deaminase Isoform L 4
  • AMP Deaminase 2 3
  • AMPD Isoform L 2
  • SPG63 3
  • AMPD 3
  • PCH9 3

External Ids for AMPD2 Gene

Previous GeneCards Identifiers for AMPD2 Gene

  • GC01P110641
  • GC01P109091
  • GC01P109264
  • GC01P109461
  • GC01P109874
  • GC01P109963
  • GC01P110162
  • GC01P108054

Summaries for AMPD2 Gene

Entrez Gene Summary for AMPD2 Gene

  • The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

GeneCards Summary for AMPD2 Gene

AMPD2 (Adenosine Monophosphate Deaminase 2) is a Protein Coding gene. Diseases associated with AMPD2 include Pontocerebellar Hypoplasia, Type 9 and Spastic Paraplegia 63. Among its related pathways are Metabolism and Purine metabolism (KEGG). GO annotations related to this gene include deaminase activity and AMP deaminase activity. An important paralog of this gene is AMPD3.

UniProtKB/Swiss-Prot for AMPD2 Gene

  • AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle.

Gene Wiki entry for AMPD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMPD2 Gene

Genomics for AMPD2 Gene

Regulatory Elements for AMPD2 Gene

Enhancers for AMPD2 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
GH01F109615 0.8 FANTOM5 ENCODE 22.1 +0.8 760 2.8 ATF1 ZFP64 ARID4B RAD21 FOS CREM EGR2 ZNF362 JUNB CEBPB AMPD2 GNAI3 SYPL2 ENSG00000260246 STRIP1 GNAT2
GH01F109785 0.8 FANTOM5 Ensembl ENCODE 12.7 +174.3 174315 10.0 HDGF PKNOX1 ARNT CREB3L1 ARID4B FEZF1 YY1 ZNF766 CBX5 ZNF143 CSF1 STRIP1 AMPD2 AHCYL1 GSTM3 ENSG00000228703 ENSG00000235005 MIR197 AMIGO1 UBL4B
GH01F109570 0.7 Ensembl ENCODE 12.2 -43.8 -43803 4.6 ZBTB40 RAD21 SCRT2 RCOR1 EGR2 ZNF263 ZNF654 CEBPB REST ZEB2 GPR61 MIR197 ENSG00000225113 AMPD2 GNAT2 ENSG00000254942 ENSG00000228703 GNAI3 AMIGO1 GC01M109593
GH01F109643 0.6 Ensembl ENCODE 12 +27.6 27597 1.0 HDGF ARID4B ZNF2 RAD21 ZEB1 GLIS2 SCRT2 ZNF143 CREM DEK GSTM4 GNAT2 AMPD2 GNAI3 MIR197 ENSG00000225113 RNU6V GSTM3 GC01M109631 RPL7P8
GH01F109653 0.5 ENCODE 12 +37.4 37410 0.2 JUND JUN CEBPB RCOR1 EP300 ENSG00000228703 AMPD2 GNAT2 GSTM3 CYB561D1 GSTM4 RPL7P8
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AMPD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for AMPD2 Gene

Chromosome:
1
Start:
109,616,104 bp from pter
End:
109,632,055 bp from pter
Size:
15,952 bases
Orientation:
Plus strand

Genomic View for AMPD2 Gene

Genes around AMPD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMPD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMPD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMPD2 Gene

Proteins for AMPD2 Gene

  • Protein details for AMPD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01433-AMPD2_HUMAN
    Recommended name:
    AMP deaminase 2
    Protein Accession:
    Q01433
    Secondary Accessions:
    • B4DK50
    • B4DZI5
    • E9PNG0
    • Q14856
    • Q14857
    • Q16686
    • Q16687
    • Q16688
    • Q16729
    • Q5T693
    • Q5T695
    • Q96IA1
    • Q9UDX8
    • Q9UDX9
    • Q9UMU4

    Protein attributes for AMPD2 Gene

    Size:
    879 amino acids
    Molecular mass:
    100688 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for AMPD2 Gene

    Alternative splice isoforms for AMPD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMPD2 Gene

Post-translational modifications for AMPD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for AMPD2 Gene

Gene Families for AMPD2 Gene

Suggested Antigen Peptide Sequences for AMPD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q01433

UniProtKB/Swiss-Prot:

AMPD2_HUMAN :
  • Belongs to the adenosine and AMP deaminases family.
Family:
  • Belongs to the adenosine and AMP deaminases family.
genes like me logo Genes that share domains with AMPD2: view

Function for AMPD2 Gene

Molecular function for AMPD2 Gene

GENATLAS Biochemistry:
adenosine monophosphate deaminase 2 (88kDa) (isoform L,liver),adenine nucleotide catabolic pathway,purine nucleotide cycle
UniProtKB/Swiss-Prot CatalyticActivity:
AMP + H(2)O = IMP + NH(3).
UniProtKB/Swiss-Prot Function:
AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle.

Enzyme Numbers (IUBMB) for AMPD2 Gene

Gene Ontology (GO) - Molecular Function for AMPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003876 AMP deaminase activity NAS 8764830
GO:0005515 protein binding IPI 21044950
GO:0016787 hydrolase activity IEA --
GO:0019239 deaminase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AMPD2: view
genes like me logo Genes that share phenotypes with AMPD2: view

Human Phenotype Ontology for AMPD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AMPD2 Gene

MGI Knock Outs for AMPD2:

Animal Model Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for AMPD2 Gene

Localization for AMPD2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMPD2 Gene COMPARTMENTS Subcellular localization image for AMPD2 gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for AMPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AMPD2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for AMPD2 Gene

Pathways & Interactions for AMPD2 Gene

genes like me logo Genes that share pathways with AMPD2: view

Pathways by source for AMPD2 Gene

2 KEGG pathways for AMPD2 Gene
1 GeneGo (Thomson Reuters) pathway for AMPD2 Gene

UniProtKB/Swiss-Prot Q01433-AMPD2_HUMAN

  • Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1.

Gene Ontology (GO) - Biological Process for AMPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006188 IMP biosynthetic process IGI 23911318
GO:0009117 nucleotide metabolic process IEA --
GO:0009168 purine ribonucleoside monophosphate biosynthetic process IEA --
GO:0032264 IMP salvage IEA --
GO:0042632 cholesterol homeostasis IEA --
genes like me logo Genes that share ontologies with AMPD2: view

No data available for SIGNOR curated interactions for AMPD2 Gene

Drugs & Compounds for AMPD2 Gene

(4) Drugs for AMPD2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Propranolol Approved, Investigational Pharma Antagonist Beta blocker 216
Water Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Inosinic acid Experimental Pharma 0

(2) Additional Compounds for AMPD2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
genes like me logo Genes that share compounds with AMPD2: view

Transcripts for AMPD2 Gene

Unigene Clusters for AMPD2 Gene

Adenosine monophosphate deaminase 2:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AMPD2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b · 11c · 11d · 11e · 11f · 11g ^
SP1: - - - - - - - - - -
SP2: - - -
SP3: - - - -
SP4: - - - - - - - - - - - -
SP5: - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - - - -
SP9:
SP10: - - - -
SP11:
SP12:
SP13: - - - - - - -
SP14:
SP15:
SP16:
SP17:
SP18:

ExUns: 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b · 22c
SP1: - - - - -
SP2: - - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - - - -
SP10:
SP11:
SP12: - -
SP13:
SP14:
SP15: -
SP16:
SP17:
SP18:

Relevant External Links for AMPD2 Gene

GeneLoc Exon Structure for
AMPD2
ECgene alternative splicing isoforms for
AMPD2

Expression for AMPD2 Gene

mRNA expression in normal human tissues for AMPD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AMPD2 Gene

This gene is overexpressed in Whole Blood (x5.0).

Protein differential expression in normal tissues from HIPED for AMPD2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.2), Platelet (11.2), and Lymph node (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AMPD2 Gene



Protein tissue co-expression partners for AMPD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AMPD2 Gene:

AMPD2

SOURCE GeneReport for Unigene cluster for AMPD2 Gene:

Hs.82927

mRNA Expression by UniProt/SwissProt for AMPD2 Gene:

Q01433-AMPD2_HUMAN
Tissue specificity: Highly expressed in cerebellum.
genes like me logo Genes that share expression patterns with AMPD2: view

Primer Products

Orthologs for AMPD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AMPD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMPD2 34 35
  • 98.47 (n)
oppossum
(Monodelphis domestica)
Mammalia AMPD2 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AMPD2 34 35
  • 92.6 (n)
dog
(Canis familiaris)
Mammalia AMPD2 34 35
  • 92.12 (n)
rat
(Rattus norvegicus)
Mammalia Ampd2 34
  • 90.82 (n)
mouse
(Mus musculus)
Mammalia Ampd2 34 16 35
  • 90.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 70 (a)
ManyToMany
chicken
(Gallus gallus)
Aves AMPD2 35
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMPD2 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ampd2 34
  • 73 (n)
zebrafish
(Danio rerio)
Actinopterygii ampd2 35
  • 78 (a)
OneToMany
AMPD2 (2 of 2) 35
  • 76 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000577 34
  • 66.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32626 34 35
  • 64.19 (n)
worm
(Caenorhabditis elegans)
Secernentea C34F11.3 34 35
  • 58.65 (n)
C34F11.3b 36
  • 57 (a)
C34F11.3a 36
  • 53 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR204C 34
  • 55.32 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D06171g 34
  • 51.33 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AMD1 34 35 37
  • 51.03 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons FAC1 34
  • 51.97 (n)
rice
(Oryza sativa)
Liliopsida Os07g0693500 34
  • 55.68 (n)
Os.8779 34
barley
(Hordeum vulgare)
Liliopsida Hv.7455 34
wheat
(Triticum aestivum)
Liliopsida Ta.9076 34
bread mold
(Neurospora crassa)
Ascomycetes NCU02979 34
  • 60.57 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2537 35
  • 60 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ada1 34
  • 55.18 (n)
Species where no ortholog for AMPD2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for AMPD2 Gene

ENSEMBL:
Gene Tree for AMPD2 (if available)
TreeFam:
Gene Tree for AMPD2 (if available)

Paralogs for AMPD2 Gene

Paralogs for AMPD2 Gene

(2) SIMAP similar genes for AMPD2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with AMPD2: view

Variants for AMPD2 Gene

Sequence variations from dbSNP and Humsavar for AMPD2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs587777392 Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809], Pathogenic 109,630,697(+) ATGGA(C/G)GAGTA nc-transcript-variant, reference, missense
rs587777394 Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809], Pathogenic 109,630,740(+) CCTGC(G/T)ATATG nc-transcript-variant, reference, missense
rs587777395 Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809], Pathogenic 109,629,487(+) CCTGC(A/G/T)CAGGT nc-transcript-variant, reference, missense
rs587777391 Pathogenic 109,628,727(+) AGTGG(-/G)ACAAG nc-transcript-variant, reference, frameshift-variant
rs587777393 Pathogenic 109,627,453(+) CCATA(A/C)CCTGA nc-transcript-variant, reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for AMPD2 Gene

Variant ID Type Subtype PubMed ID
dgv253n100 CNV gain 25217958
dgv254n100 CNV gain+loss 25217958
dgv255n100 CNV gain 25217958
nsv2299 CNV deletion 18451855
nsv510951 OTHER complex 20534489

Variation tolerance for AMPD2 Gene

Residual Variation Intolerance Score: 2.56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.92; 83.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AMPD2 Gene

Human Gene Mutation Database (HGMD)
AMPD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMPD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMPD2 Gene

Disorders for AMPD2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for AMPD2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pontocerebellar hypoplasia, type 9
  • pontocerebellar hypoplasia type 9
spastic paraplegia 63
  • spastic paraplegia 63, autosomal recessive
pontocerebellar hypoplasia
  • pch
prediabetes syndrome
  • prediabetes
- elite association - COSMIC cancer census association via MalaCards
Search AMPD2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AMPD2_HUMAN
  • Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809]: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH9 features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination. {ECO:0000269 PubMed:23911318}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spastic paraplegia 63, autosomal recessive (SPG63) [MIM:615686]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:24482476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AMPD2

Genetic Association Database (GAD)
AMPD2
Human Genome Epidemiology (HuGE) Navigator
AMPD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMPD2
genes like me logo Genes that share disorders with AMPD2: view

No data available for Genatlas for AMPD2 Gene

Publications for AMPD2 Gene

  1. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G. … Gleeson J.G. (Science 2014) 2 3 4 64
  2. Cloning, sequence and characterization of the human AMPD2 gene: evidence for transcriptional regulation by two closely spaced promoters. (PMID: 8764830) Mahnke-Zizelman D.K. … Sabina R.L. (Biochim. Biophys. Acta 1996) 3 4 22 64
  3. Characterization of human AMP deaminase 2 (AMPD2) gene expression reveals alternative transcripts encoding variable N-terminal extensions of isoform L. (PMID: 8526848) Van den Bergh F. … Sabina R.L. (Biochem. J. 1995) 3 4 22 64
  4. Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons. (PMID: 1400401) Mahnke-Zizelman D.K. … Sabina R.L. (J. Biol. Chem. 1992) 2 3 22 64
  5. Molecular cloning of AMP deaminase isoform L. Sequence and bacterial expression of human AMPD2 cDNA. (PMID: 1429593) Bausch-Jurken M.T. … Sabina R.L. (J. Biol. Chem. 1992) 3 4 22 64

Products for AMPD2 Gene

Sources for AMPD2 Gene

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