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, Autosomal Recessive. Among its related pathways are Metabolism and Pyrimidine metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include deaminase activity and AMP deaminase activity. An important paralog of this gene is AMPD1.
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.
Additional gene information for AMPD2 Gene
- Monarch Initiative
- Search for AMPD2 at DataMed
- Search for AMPD2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMPD2 Gene
Genomics for AMPD2 Gene
GeneHancer (GH) Regulatory Elements for AMPD2 Gene
Promoters and enhancers for AMPD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around AMPD2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the AMPD2 gene promoter:
Regulatory Element Products
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)
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
No Post-translational modifications
Other Protein References for AMPD2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for AMPD2
- Novus Biologicals Antibodies for AMPD2
-
Abcam antibodies for AMPD2
- Invitrogen Antibodies for AMPD2
- GeneTex AMPD2 antibody 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
- ProSpec Recombinant Proteins for AMPD2
- antibodies-online: Search results for 6 available AMPD2 Proteins ranked by validation data
- Compare Top AMPD2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for AMPD2
-
Abcam proteins for AMPD2
Assay Products
- antibodies-online: Search results for 1 available AMPD2 Elisa Kits ranked by validation data
- Compare Top AMPD2 Elisa Kits
-
Quality Products:
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for AMPD2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q01433UniProtKB/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.
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
Phenotypes From GWAS Catalog 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
- genomics-online: gRNA clones - Search results for 118 available AMPD2 gene related products
- Overview of 118 available AMPD2 gene related products
- Applied Biological Materials CRISPR for AMPD2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR 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
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for AMPD2
- Browse OriGene Inhibitory RNA Products For AMPD2
- genomics-online: shRNA clones - Search results for 118 available AMPD2 gene related products
- Overview of 118 available AMPD2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for AMPD2 gene
Clone Products
-
OriGene ORF clones in human for AMPD2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- 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
- Applied Biological Materials Clones for AMPD2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
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 |
- Cytosol (4)
| 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 |
.01
|
|
| 2 | Metabolism |
.37
|
|
| 3 | Pyrimidine 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:
Q01433-AMPD2_HUMAN
ENSP00000256578
for AMPD2 Gene via
IID
STRING
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:0043101 | purine-containing compound salvage | TAS | -- |
No data available for SIGNOR curated interactions for AMPD2 Gene
Drugs & Compounds for AMPD2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
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
- genomics-online: gRNA clones - Search results for 118 available AMPD2 gene related products
- Overview of 118 available AMPD2 gene related products
- Applied Biological Materials CRISPR for AMPD2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AMPD2
- GenScript: Design CRISPR guide RNA sequences for AMPD2
miRNA Products
- Search ViGene Biosciences for AMPD2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for AMPD2
- Browse OriGene Inhibitory RNA Products For AMPD2
- genomics-online: shRNA clones - Search results for 118 available AMPD2 gene related products
- Overview of 118 available AMPD2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for AMPD2 gene
Clone Products
-
OriGene ORF clones in human for AMPD2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- 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
- Applied Biological Materials Clones for AMPD2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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.
Evidence on tissue expression from TISSUES for AMPD2 Gene
- Nervous system(5)
- Blood(4.4)
- Liver(4.4)
- Muscle(2.3)
- Bone marrow(2.1)
- Kidney(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for AMPD2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Organs:
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
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 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | AMPD2 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | AMPD2 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | AMPD2 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ampd2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Ampd2 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | AMPD2 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | AMPD2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ampd2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ampd2 34 |
|
OneToMany | |
| AMPD2 (2 of 2) 34 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000577 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG32626 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C34F11.3 33 34 |
|
||
| C34F11.3b 35 |
|
|
|||
| C34F11.3a 35 |
|
|
|||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ABR204C 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D06171g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AMD1 33 34 36 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | FAC1 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os07g0693500 33 |
|
||
| Os.8779 33 |
|
||||
| barley (Hordeum vulgare) |
Liliopsida | Hv.7455 33 |
|
||
| wheat (Triticum aestivum) |
Liliopsida | Ta.9076 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU02979 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2537 34 |
|
OneToOne | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ada1 33 |
|
- 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 | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs114727970 | uncertain-significance, benign, not specified, Pontocerebellar hypoplasia, type 9, Spastic paraplegia 63, autosomal recessive | 109,628,244(+) | C/T | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs138175138 | uncertain-significance, Hereditary spastic paraplegia | 109,626,384(+) | G/A/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs141818976 | likely-benign, Pontocerebellar hypoplasia, type 9, Spastic paraplegia 63, autosomal recessive | 109,626,827(+) | C/G | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs143354905 | likely-benign, Pontocerebellar hypoplasia, type 9, Spastic paraplegia 63, autosomal recessive | 109,621,247(+) | G/A | coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant, synonymous_variant | |
| rs147463318 | uncertain-significance, Pontocerebellar hypoplasia, type 9, Spastic paraplegia 63, autosomal recessive | 109,621,198(+) | C/G | coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMPD2 Gene
Disorders for AMPD2 Gene
(3) MalaCards diseases for AMPD2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pontocerebellar hypoplasia, type 9 |
|
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| spastic paraplegia 63, autosomal recessive |
|
|
| pontocerebellar hypoplasia |
|
|
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
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 JG (Science (New York, N.Y.) 2014) 2 3 4 58
- 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 22 58
- 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 22 58
- 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 22 58
- 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 22 58
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Sources for AMPD2 Gene
- (1) GeneCards
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