Aliases for AMPD2 Gene
Aliases for AMPD2 Gene
External Ids for AMPD2 Gene
- HGNC: 469
- Entrez Gene: 271
- Ensembl: ENSG00000116337
- OMIM: 102771
- UniProtKB: Q01433
Previous GeneCards Identifiers for AMPD2 Gene
- GC01P110641
- GC01P109091
- GC01P109264
- GC01P109461
- GC01P109874
- GC01P109963
- GC01P110162
- GC01P108054
Summaries 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.
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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around AMPD2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the AMPD2 gene promoter:
Regulatory Element Products
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:
-
- 1p13.3 by Ensembl
- 1p13.3 by Entrez Gene
- 1p13.3 by HGNC
AMPD2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for AMPD2 Gene
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
-
Custom Antibody ServicesOriGene Antibodies for AMPD2
- Novus Biologicals Antibodies for AMPD2
- Invitrogen Antibodies for AMPD2
- antibodies-online Antibodies for AMPD2: See all 47
- GeneTex AMPD2 antibody for AMPD2
-
St John's Laboratory Antibodies for AMPD2
-
Santa Cruz Biotechnology (SCBT) Antibodies for AMPD2
Protein Products
-
OriGene Purified Proteins for AMPD2
- Search Origene for MassSpec and Protein Over-expression Lysates for AMPD2
- Origene Custom Protein Services for AMPD2
- antibodies-online Proteins for AMPD2: See all 7
- Search antibodies-online for peptides
- Search GeneTex for Proteins for AMPD2
Assay Products
- antibodies-online Kits for AMPD2: See all 5
Domains & Families for AMPD2 Gene
Gene Families for AMPD2 Gene
Protein Domains for AMPD2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for AMPD2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q01433- Family:
-
- Belongs to the adenosine and AMP deaminases family.
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
| 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 | -- |
Phenotypes for AMPD2 Gene
- MGI mutant phenotypes for AMPD2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for AMPD2:
Animal Models for AMPD2 Gene
- MGI Knock Outs for AMPD2:
-
- Ampd2 tm1Tm
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for AMPD2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for AMPD2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AMPD2 gene
- Search ViGene Biosciences for AMPD2
CRISPR Products
-
OriGene CRISPR knockouts for AMPD2
- GenScript: Design CRISPR guide RNA sequences for AMPD2
miRNA for AMPD2 Gene
- miRTarBase miRNAs that target AMPD2
miRNA Products
- Search ViGene Biosciences for AMPD2
Clone Products
- Sino Biological Human cDNA Clone for AMPD2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for AMPD2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AMPD2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for AMPD2
-
ViGene Biosciences adenoviral particle packaged cDNA for AMPD2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for AMPD2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AMPD2 gene
Flow Cytometry Products
No data available for Transcription Factor Targets and HOMER Transcription for AMPD2 Gene
Localization for AMPD2 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| mitochondrion | 4 |
| peroxisome | 2 |
| nucleus | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005575 | cellular_component | ND | -- |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for AMPD2 Gene
Pathways & Interactions for AMPD2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Purine metabolism (REACTOME) |
.01
|
|
| 2 | Metabolism |
.37
|
|
| 3 | Purine metabolism (KEGG) | ||
Pathways by source for AMPD2 Gene
4 Reactome pathways 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.
Interacting Proteins for AMPD2 Gene
Selected Interacting proteins:
ENSP00000256578
Q01433-AMPD2_HUMAN
for AMPD2 Gene via
STRING
IID
UniProtKB
| 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 | -- |
No data available for SIGNOR curated interactions for AMPD2 Gene
Drugs & Compounds for AMPD2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Ammonia |
|
7664-41-7 |
|
Transcripts for AMPD2 Gene
mRNA/cDNA for AMPD2 Gene
- (6) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (320) Selected AceView cDNA sequences:
- (26) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for AMPD2 Gene
- Adenosine monophosphate deaminase 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for AMPD2
- GenScript: Design CRISPR guide RNA sequences for AMPD2
miRNA Products
- Search ViGene Biosciences for AMPD2
Clone Products
- Sino Biological Human cDNA Clone for AMPD2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for AMPD2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AMPD2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| 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: |
Expression for AMPD2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- Intestine (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
- Pancreas (Endocrine System)
- Ovary (Reproductive System)
-
Spleen (Hematopoietic System)
-
Adrenal Gland (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for AMPD2 Gene
This gene is overexpressed in Whole Blood (x5.0).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of AMPD2 Gene:
AMPD2SOURCE GeneReport for Unigene cluster for AMPD2 Gene:
Hs.82927mRNA Expression by UniProt/SwissProt for AMPD2 Gene:
Q01433-AMPD2_HUMAN
Tissue specificity:
Highly expressed in cerebellum.
Primer Products
-
OriGene qPCR primer pairs for AMPD2
-
OriGene qPCR primer pairs and template standards for AMPD2
Orthologs for AMPD2 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AMPD2 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | AMPD2 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | AMPD2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | AMPD2 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ampd2 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ampd2 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | AMPD2 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | AMPD2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ampd2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ampd2 35 |
|
OneToMany | |
| AMPD2 (2 of 2) 35 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000577 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG32626 34 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C34F11.3 34 35 |
|
||
| C34F11.3b 36 |
|
|
|||
| C34F11.3a 36 |
|
|
|||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ABR204C 34 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D06171g 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AMD1 34 35 37 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | FAC1 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os07g0693500 34 |
|
||
| Os.8779 34 |
|
||||
| barley (Hordeum vulgare) |
Liliopsida | Hv.7455 34 |
|
||
| wheat (Triticum aestivum) |
Liliopsida | Ta.9076 34 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU02979 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2537 35 |
|
OneToOne | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ada1 34 |
|
- 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)
Paralogs for AMPD2 Gene
(2) SIMAP similar genes for AMPD2 Gene using alignment to 7 proteins:
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv510951 | OTHER | complex | 20534489 |
| nsv2299 | CNV | deletion | 18451855 |
| dgv255n100 | CNV | gain | 25217958 |
| dgv254n100 | CNV | gain+loss | 25217958 |
| dgv253n100 | CNV | gain | 25217958 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMPD2 Gene
Disorders for AMPD2 Gene
(4) MalaCards diseases for AMPD2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pontocerebellar hypoplasia, type 9 |
|
|
| spastic paraplegia 63 |
|
|
| pontocerebellar hypoplasia |
|
|
| prediabetes syndrome |
|
|
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
No data available for Genatlas for AMPD2 Gene
Publications for AMPD2 Gene
- Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G. … Gleeson J.G. (Science 2014) 2 3 4 64
- 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
- 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
- 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
- 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
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for AMPD2
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for AMPD2
- Search Origene for MassSpec and Protein Over-expression Lysates for AMPD2
- Origene Custom Protein Services for AMPD2
- Origene siRNA, mouse_rna, rat_shrna, shRNA, and RNAi products in human, mouse, rat for AMPD2
- Browse OriGene Inhibitory RNA Products For AMPD2
- OriGene qPCR primer pairs and template standards for AMPD2
- OriGene qPCR primer pairs for AMPD2
- OriGene CRISPR knockouts for AMPD2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For AMPD2
- GenScript: Next-day shipping cDNA clones in your preferred vector
- GenScript Custom Purified and Recombinant Proteins Services for AMPD2
- GenScript Custom Assay Services for AMPD2
- GenScript Custom overexpressing Cell Line Services for AMPD2
- GenScript: Design CRISPR guide RNA sequences for AMPD2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for AMPD2
- Sino Biological Human cDNA Clone for AMPD2
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for AMPD2
- Novus Biologicals proteins and lysates for AMPD2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- antibodies-online Antibodies for AMPD2: See all 47
- antibodies-online Kits for AMPD2: See all 5
- antibodies-online Proteins for AMPD2: See all 7
- Search antibodies-online for peptides
- GeneTex AMPD2 antibody for AMPD2
- Search GeneTex for Proteins for AMPD2
- ViGene Biosciences adenoviral particle packaged cDNA for AMPD2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for AMPD2 gene
- ViGene Biosciences ready-to-package AAV shRNAs for AMPD2 gene
- Search ViGene Biosciences for AMPD2
- Santa Cruz Biotechnology (SCBT) Antibodies for AMPD2
- Search Santa Cruz Biotechnology (SCBT) for AMPD2 siRNA/shRNA
- Browse Santa Cruz Biotechnology (SCBT) for AMPD2 CRISPR
- Horizon Cell Lines for AMPD2
- Cyagen custom Knockout/knockin (KOKI) mouse models for AMPD2
- VectorBuilder custom plasmid, inducible vectors for AMPD2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AMPD2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for AMPD2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab