AMPD2 Gene (Protein Coding)

Adenosine Monophosphate Deaminase 2

GC01P109616
GIFtS:
46
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] See more...

Aliases for AMPD2 Gene

Aliases for AMPD2 Gene

  • Adenosine Monophosphate Deaminase 2 2 3 5
  • Adenosine Monophosphate Deaminase 2 (Isoform L) 2 3
  • AMP Deaminase 2 3 4
  • EC 3.5.4.6 4 51
  • SPG63 2 3
  • AMP Deaminase Isoform L 4
  • AMPD Isoform L 2
  • AMPD2 5
  • PCH9 3
  • AMPD 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, Autosomal Recessive. Among its related pathways are Metabolism of nucleotides and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include deaminase activity and AMP deaminase activity. An important paralog of this gene is AMPD3.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for AMPD2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMPD2 Gene

Genomics for AMPD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AMPD2 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 AMPD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMPD2

Top Transcription factor binding sites by QIAGEN in the AMPD2 gene promoter:
  • C/EBPalpha
  • CP2
  • SRF
  • SRF (504 AA)

Genomic Locations for AMPD2 Gene

Genomic Locations for AMPD2 Gene
chr1:109,616,104-109,632,055
(GRCh38/hg38)
Size:
15,952 bases
Orientation:
Plus strand
chr1:110,158,726-110,174,677
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for AMPD2 Gene

Proteins for AMPD2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for AMPD2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for AMPD2 Gene

Q01433:
  • VKSHWLGP
  • RPHCGEAG
  • TLREVFES
  • TKEPLMEEYSIATQVW
  • PHRDFYN
  • SPNVRWL
  • KYNPIGES
  • TFHRFDKFN
  • RTNVPDIR
  • DMCELARNSVL
  • NVRWLVQ
  • WKLSSCD

Post-translational modifications for AMPD2 Gene

Other Protein References for AMPD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for AMPD2
  • Santa Cruz Biotechnology (SCBT) Antibodies for AMPD2

Domains & Families for AMPD2 Gene

Gene Families for AMPD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for AMPD2 Gene

InterPro:
Blocks:
  • Adenosine/AMP deaminase active site
ProtoNet:

Suggested Antigen Peptide Sequences for AMPD2 Gene

GenScript: Design optimal peptide antigens:
  • AMP deaminase isoform L (AMPD2_HUMAN)
  • Adenosine monophosphate deaminase 2 (Isoform L) (Q5T694_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01433

UniProtKB/Swiss-Prot:

AMPD2_HUMAN :
  • Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.
Family:
  • Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.
genes like me logo Genes that share domains with AMPD2: view

Function for AMPD2 Gene

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  1. Animal Model
  2. CRISPR
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  6. Cell Line

Molecular function for AMPD2 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=AMP + H(+) + H2O = IMP + NH4(+); Xref=Rhea:RHEA:14777, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28938, ChEBI:CHEBI:58053, ChEBI:CHEBI:456215; EC=3.5.4.6;.
GENATLAS Biochemistry:
adenosine monophosphate deaminase 2 (88kDa) (isoform L,liver),adenine nucleotide catabolic pathway,purine nucleotide cycle

Enzyme Numbers (IUBMB) for AMPD2 Gene

Phenotypes From GWAS Catalog for AMPD2 Gene

Gene Ontology (GO) - Molecular Function for AMPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003876 AMP deaminase activity IGI,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:
  • Ampd2 Ampd2<tm1Tm>
  • Ampd2 Ampd2<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMPD2

Clone Products

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

Localization for AMPD2 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 AMPD2 gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AMPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

PathCards logo

SuperPathways 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
  • ATP/ITP metabolism

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:0043101 purine-containing compound salvage TAS --
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

Products:

  1. Drug

(5) Drugs for AMPD2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia Approved Pharma 0
Propranolol Approved, Investigational Pharma Antagonist, Inhibitor, Inhibition Beta blocker 287
Water Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Inosinic acid Experimental Pharma 0

(1) Additional Compounds for AMPD2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AMPD2: view

Transcripts for AMPD2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for AMPD2 Gene

7 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
33 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 AMPD2

Clone 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

Expression for AMPD2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AMPD2 Gene

mRNA expression in normal human tissues for AMPD2 Gene
mRNA expression by GTEx for AMPD2 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for AMPD2 Gene



Protein tissue co-expression partners for AMPD2 Gene

- Elite partner

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

Evidence on tissue expression from TISSUES for AMPD2 Gene

  • Nervous system(5)
  • Liver(4.5)
  • Blood(4.5)
  • Muscle(2.3)
  • Skin(2.3)
  • Kidney(2.3)
  • Bone marrow(2.1)
  • Intestine(2.1)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AMPD2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • skull
Thorax:
  • chest wall
Abdomen:
  • abdominal wall
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with AMPD2: view

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 30 31
  • 98.47 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia AMPD2 31
  • 95 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia AMPD2 30 31
  • 92.6 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia AMPD2 30 31
  • 92.12 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ampd2 30
  • 90.82 (n)
Mouse
(Mus musculus)
 Mammalia Ampd2 30 17 31
  • 90.37 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 70 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves AMPD2 31
  • 88 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia AMPD2 31
  • 86 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ampd2 30
  • 73 (n)
Zebrafish
(Danio rerio)
 Actinopterygii ampd2 31
  • 78 (a)
 OneToMany
AMPD2 (2 of 2) 31
  • 76 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000577 30
  • 66.72 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG32626 30 31
  • 64.19 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea C34F11.3 30 31
  • 58.65 (n)
 OneToOne
C34F11.3b 32
  • 57 (a)
C34F11.3a 32
  • 53 (a)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ABR204C 30
  • 55.32 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D06171g 30
  • 51.33 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AMD1 30 31 33
  • 51.03 (n)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons FAC1 30
  • 51.97 (n)
Rice
(Oryza sativa)
 Liliopsida Os07g0693500 30
  • 55.68 (n)
Os.8779 30
Barley
(Hordeum vulgare)
 Liliopsida Hv.7455 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.9076 30
Bread mold
(Neurospora crassa)
 Ascomycetes NCU02979 30
  • 60.57 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.2537 31
  • 60 (a)
 OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes ada1 30
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AMPD2: view image

Paralogs for AMPD2 Gene

Paralogs for AMPD2 Gene

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

  • AMPD2_HUMAN
  • E9PIJ1_HUMAN
  • E9PJF6_HUMAN
  • H0Y360_HUMAN
  • H0YCL9_HUMAN
  • H0YE32_HUMAN
  • H0YF16_HUMAN
genes like me logo Genes that share paralogs with AMPD2: view

Variants for AMPD2 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMPD2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
638368 Uncertain Significance: Pontocerebellar hypoplasia, type 9 109,627,262(+) T/C MISSENSE_VARIANT
649488 Uncertain Significance: Spastic paraplegia 63, autosomal recessive; Pontocerebellar hypoplasia, type 9 109,621,101(+) G/T FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
655115 Uncertain Significance: Spastic paraplegia 63, autosomal recessive; Pontocerebellar hypoplasia, type 9 109,625,389(+) G/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
665782 Uncertain Significance: Spastic paraplegia 63, autosomal recessive; Pontocerebellar hypoplasia, type 9 109,628,416(+) T/C MISSENSE_VARIANT
703122 Benign: Spastic paraplegia 63, autosomal recessive; Pontocerebellar hypoplasia, type 9 109,629,124(+) C/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for AMPD2 Gene

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)

Additional Variant Information for AMPD2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AMPD2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for AMPD2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pontocerebellar hypoplasia, type 9
  • pch9
spastic paraplegia 63, autosomal recessive
  • spg63
pontocerebellar hypoplasia
  • pch
paraplegia
  • paraplegia, lower
hereditary spastic paraplegia
  • spastic paraplegia 3, autosomal dominant
- 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.

Additional Disease Information for AMPD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 JG (Science (New York, N.Y.) 2014) 2 3 4
  2. Cloning, sequence and characterization of the human AMPD2 gene: evidence for transcriptional regulation by two closely spaced promoters. (PMID: 8764830) Mahnke-Zizelman DK … Sabina RL (Biochimica et biophysica acta 1996) 3 4 23
  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 RL (The Biochemical journal 1995) 3 4 23
  4. Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons. (PMID: 1400401) Mahnke-Zizelman DK … Sabina RL (The Journal of biological chemistry 1992) 2 3 23
  5. Molecular cloning of AMP deaminase isoform L. Sequence and bacterial expression of human AMPD2 cDNA. (PMID: 1429593) Bausch-Jurken MT … Sabina RL (The Journal of biological chemistry 1992) 3 4 23

ExternalLinks

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