Human Gene AMPD2 (ENST00000528667.7_9) from GENCODE V47lift37
  Description: adenosine monophosphate deaminase 2, transcript variant 4 (from RefSeq NM_001368809.2)
Gencode Transcript: ENST00000528667.7_9
Gencode Gene: ENSG00000116337.20_16
Transcript (Including UTRs)
   Position: hg19 chr1:110,162,459-110,174,673 Size: 12,215 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg19 chr1:110,163,798-110,173,774 Size: 9,977 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:110,162,459-110,174,673)mRNA (may differ from genome)Protein (825 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AMPD2_HUMAN
DESCRIPTION: RecName: Full=AMP deaminase 2; EC=3.5.4.6; AltName: Full=AMP deaminase isoform L;
FUNCTION: AMP deaminase plays a critical role in energy metabolism.
CATALYTIC ACTIVITY: AMP + H(2)O = IMP + NH(3).
COFACTOR: Binds 1 zinc ion per subunit (By similarity).
PATHWAY: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1.
SUBUNIT: Homotetramer.
TISSUE SPECIFICITY: Three isoforms are present in mammals: AMP deaminase 1 is the predominant form in skeletal muscle; AMP deaminase 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated myoblasts; AMP deaminase 3 is found in erythrocytes.
SIMILARITY: Belongs to the adenosine and AMP deaminases family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AMPD2
Diseases sorted by gene-association score: pontocerebellar hypoplasia, type 9* (1668), spastic paraplegia 63* (1419), pontocerebellar hypoplasia (11)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 67.64 RPKM in Pituitary
Total median expression: 770.88 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -335.10704-0.476 Picture PostScript Text
3' UTR -365.20899-0.406 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006650 - A/AMP_deam_AS
IPR001365 - A/AMP_deaminase_dom
IPR006329 - AMP_deaminase

Pfam Domains:
PF00962 - Adenosine deaminase
PF19326 - AMP deaminase

SCOP Domains:
51556 - Metallo-dependent hydrolases

ModBase Predicted Comparative 3D Structure on Q01433
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003876 AMP deaminase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0019239 deaminase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006188 IMP biosynthetic process
GO:0009117 nucleotide metabolic process
GO:0009168 purine ribonucleoside monophosphate biosynthetic process
GO:0032264 IMP salvage
GO:0043101 purine-containing compound salvage
GO:0052652 cyclic purine nucleotide metabolic process
GO:0097009 energy homeostasis

Cellular Component:
GO:0005575 cellular_component
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK308907 - Homo sapiens cDNA, FLJ98948.
LF206301 - JP 2014500723-A/13804: Polycomb-Associated Non-Coding RNAs.
AK025706 - Homo sapiens cDNA: FLJ22053 fis, clone HEP09502, highly similar to HUMAMPD2 Human AMP deaminase (AMPD2) mRNA.
BC007711 - Homo sapiens adenosine monophosphate deaminase 2 (isoform L), mRNA (cDNA clone MGC:12857 IMAGE:4101667), complete cds.
BC075844 - Homo sapiens adenosine monophosphate deaminase 2 (isoform L), mRNA (cDNA clone MGC:88800 IMAGE:4130690), complete cds.
AK314494 - Homo sapiens cDNA, FLJ95309, highly similar to Homo sapiens adenosine monophosphate deaminase 2 (isoform L)(AMPD2), mRNA.
U16267 - Human AMP deaminase isoform L, alternatively spliced (AMPD2) mRNA, exons 1A, 2 and 3, partial cds.
U16268 - Human AMP deaminase isoform L, alternatively spliced (AMPD2) mRNA, exons 1B, 2 and 3, partial cds.
LF353067 - JP 2014500723-A/160570: Polycomb-Associated Non-Coding RNAs.
JD401482 - Sequence 382506 from Patent EP1572962.
JD181827 - Sequence 162851 from Patent EP1572962.
JD179628 - Sequence 160652 from Patent EP1572962.
JD293734 - Sequence 274758 from Patent EP1572962.
LF353066 - JP 2014500723-A/160569: Polycomb-Associated Non-Coding RNAs.
AK302939 - Homo sapiens cDNA FLJ54079 complete cds, highly similar to AMP deaminase 2 (EC 3.5.4.6).
U16269 - Human AMP deaminase isoform L, alternatively spliced (AMPD2) pre-mRNA, exons 1B and 3-16, partial cds.
AK296394 - Homo sapiens cDNA FLJ55345 complete cds, highly similar to AMP deaminase 2 (EC 3.5.4.6).
KJ890669 - Synthetic construct Homo sapiens clone ccsbBroadEn_00063 AMPD2 gene, encodes complete protein.
LF353061 - JP 2014500723-A/160564: Polycomb-Associated Non-Coding RNAs.
M91029 - Human AMP deaminase (AMPD2) mRNA.
S47833 - Homo sapiens AMP deaminase isoform L (AMPD2) mRNA, complete cds.
LF353060 - JP 2014500723-A/160563: Polycomb-Associated Non-Coding RNAs.
U16270 - Human AMP deaminase isoform L (AMPD2) mRNA, exons 6-18, partial cds.
BC030217 - Homo sapiens adenosine monophosphate deaminase 2 (isoform L), mRNA (cDNA clone IMAGE:5203723), containing frame-shift errors.
LF353059 - JP 2014500723-A/160562: Polycomb-Associated Non-Coding RNAs.
LF353058 - JP 2014500723-A/160561: Polycomb-Associated Non-Coding RNAs.
DQ579586 - Homo sapiens piRNA piR-47698, complete sequence.
JD248118 - Sequence 229142 from Patent EP1572962.
JD122762 - Sequence 103786 from Patent EP1572962.
JD233275 - Sequence 214299 from Patent EP1572962.
JD156628 - Sequence 137652 from Patent EP1572962.
JD119764 - Sequence 100788 from Patent EP1572962.
JD078464 - Sequence 59488 from Patent EP1572962.
JD244852 - Sequence 225876 from Patent EP1572962.
JD547483 - Sequence 528507 from Patent EP1572962.
JD133968 - Sequence 114992 from Patent EP1572962.
JD191502 - Sequence 172526 from Patent EP1572962.
JD523863 - Sequence 504887 from Patent EP1572962.
JD225192 - Sequence 206216 from Patent EP1572962.
JD453119 - Sequence 434143 from Patent EP1572962.
JD485311 - Sequence 466335 from Patent EP1572962.
JD474028 - Sequence 455052 from Patent EP1572962.
JD533597 - Sequence 514621 from Patent EP1572962.
JD435354 - Sequence 416378 from Patent EP1572962.
JD515699 - Sequence 496723 from Patent EP1572962.
JD477505 - Sequence 458529 from Patent EP1572962.
JD329681 - Sequence 310705 from Patent EP1572962.
JD209099 - Sequence 190123 from Patent EP1572962.
JD554644 - Sequence 535668 from Patent EP1572962.
JD526537 - Sequence 507561 from Patent EP1572962.
JD421659 - Sequence 402683 from Patent EP1572962.
JD559537 - Sequence 540561 from Patent EP1572962.
MA588644 - JP 2018138019-A/160570: Polycomb-Associated Non-Coding RNAs.
MA588643 - JP 2018138019-A/160569: Polycomb-Associated Non-Coding RNAs.
MA588638 - JP 2018138019-A/160564: Polycomb-Associated Non-Coding RNAs.
MA588637 - JP 2018138019-A/160563: Polycomb-Associated Non-Coding RNAs.
MA588636 - JP 2018138019-A/160562: Polycomb-Associated Non-Coding RNAs.
MA588635 - JP 2018138019-A/160561: Polycomb-Associated Non-Coding RNAs.
MA441878 - JP 2018138019-A/13804: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q01433 (Reactome details) participates in the following event(s):

R-HSA-76590 AMP + H2O => IMP + NH4+ (AMPD)
R-HSA-74217 Purine salvage
R-HSA-8956321 Nucleotide salvage
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A0A5F9UK94, AMPD2 , AMPD2_HUMAN, B4DK50, B4DZI5, E9PNG0, ENST00000528667.1, ENST00000528667.2, ENST00000528667.3, ENST00000528667.4, ENST00000528667.5, ENST00000528667.6, NM_001368809, Q01433, Q14856, Q14857, Q16686, Q16687, Q16688, Q16729, Q5T693, Q5T695, Q96IA1, Q9UDX8, Q9UDX9, Q9UMU4, uc324ezm.1, uc324ezm.2
UCSC ID: ENST00000528667.7_9
RefSeq Accession: NM_001368809.2
Protein: Q01433 (aka AMPD2_HUMAN or AMD2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene AMPD2:
hsp (Hereditary Spastic Paraplegia Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.