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AMPD2 adenosine monophosphate deaminase 2 [ Homo sapiens (human) ]

Gene ID: 271, updated on 26-May-2016
Official Symbol
AMPD2provided by HGNC
Official Full Name
adenosine monophosphate deaminase 2provided by HGNC
Primary source
HGNC:HGNC:469
See related
Ensembl:ENSG00000116337 HPRD:11808; MIM:102771; Vega:OTTHUMG00000011649
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PCH9; SPG63
Summary
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]
Orthologs
Location:
1p13.3
Exon count:
20
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (109619659..109632055)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110162435..110174677)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene G protein subunit alpha i3 Neighboring gene RNA, U6 small nuclear variant sequence with SNRPE pseudogene sequence Neighboring gene microRNA 197 Neighboring gene G protein subunit alpha transducin 2 Neighboring gene ribosomal protein L7 pseudogene 8 Neighboring gene glutathione S-transferase mu 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
PONTOCEREBELLAR HYPOPLASIA, TYPE 9
MedGen: CN188188 OMIM: 615809 GeneReviews: Not available
Compare labs
Spastic paraplegia 63, autosomal recessive
MedGen: C3810295 OMIM: 615686 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of recurrent early-onset major depressive disorder.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human adenosine monophosphate deaminase 2 (AMPD2) at amino acid residues 147-148 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
    Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
  • Purine metabolism, organism-specific biosystem (from KEGG)
    Purine metabolism, organism-specific biosystem
    Purine metabolism
  • Purine metabolism, organism-specific biosystem (from REACTOME)
    Purine metabolism, organism-specific biosystemThe events of human purine metabolism are conveniently, if somewhat arbitrarily, grouped into four pathways: de novo synthesis of inosine 5'-monophosphate (IMP), the biosynthesis of other purine ribo...
  • Purine metabolism, conserved biosystem (from KEGG)
    Purine metabolism, conserved biosystem
    Purine metabolism
  • Purine salvage, organism-specific biosystem (from REACTOME)
    Purine salvage, organism-specific biosystemNucleosides and free bases generated by DNA and RNA breakdown are converted back to nucleotide monophosphates, allowing them to re-enter the pathway of purine biosynthesis. Nucleosides and free bases...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
AMP deaminase activity EXP
Inferred from Experiment
more info
PubMed 
AMP deaminase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
AMP deaminase activity NAS
Non-traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
AMP metabolic process IEA
Inferred from Electronic Annotation
more info
 
ATP metabolic process IEA
Inferred from Electronic Annotation
more info
 
GTP metabolic process IEA
Inferred from Electronic Annotation
more info
 
IMP biosynthetic process IGI
Inferred from Genetic Interaction
more info
PubMed 
IMP salvage IEA
Inferred from Electronic Annotation
more info
 
cyclic purine nucleotide metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
energy homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
purine-containing compound salvage TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
AMP deaminase 2
Names
AMPD
adenosine monophosphate deaminase 2 (isoform L)
NP_001244289.1
NP_001244290.1
NP_004028.3
NP_631895.1
NP_981949.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034075.1 RefSeqGene

    Range
    5001..17243
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257360.1NP_001244289.1  AMP deaminase 2 isoform 1

    See identical proteins and their annotated locations for NP_001244289.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 4 both encode the same isoform (1).
    Source sequence(s)
    AK314494, AL355310, BC030217, DA558264, U16270
    Consensus CDS
    CCDS805.1
    UniProtKB/Swiss-Prot
    Q01433
    UniProtKB/TrEMBL
    A0A024R098, B2RB47
    Related
    ENSP00000436541, OTTHUMP00000233627, ENST00000528667, OTTHUMT00000032227
    Conserved Domains (1) summary
    cd01319
    Location:355851
    AMPD; AMP deaminase (AMPD) catalyzes the hydrolytic deamination of adensosine monophosphate (AMP) at position 6 of the adenine nucleotide ring. AMPD is a diverse and highly regulated eukaryotic key enzyme of the adenylate catabolic pathway.
  2. NM_001257361.1NP_001244290.1  AMP deaminase 2 isoform 4

    See identical proteins and their annotated locations for NP_001244290.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate 5' exons and contains another compared to variant 4. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK296394, BC030217, DC410161, U16270
    Consensus CDS
    CCDS58016.1
    UniProtKB/Swiss-Prot
    Q01433
    Related
    ENSP00000437164, OTTHUMP00000233633, ENST00000528454, OTTHUMT00000032229
    Conserved Domains (1) summary
    cd01319
    Location:237733
    AMPD; AMP deaminase (AMPD) catalyzes the hydrolytic deamination of adensosine monophosphate (AMP) at position 6 of the adenine nucleotide ring. AMPD is a diverse and highly regulated eukaryotic key enzyme of the adenylate catabolic pathway.
  3. NM_001308170.1NP_001295099.1  AMP deaminase 2 isoform 5

    See identical proteins and their annotated locations for NP_001295099.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and lacks an exon in the 5' coding region compared to variant 4. This variant represents translation initiation at an alternate start codon compared to variant 4; the 5'-most initiation codon, as used in variant 4, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at an alternate start codon to encode an isoform (5) that is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK302939, BC007711, BC030217, U16268
    Consensus CDS
    CCDS76186.1
    UniProtKB/Swiss-Prot
    Q01433
    Conserved Domains (1) summary
    cd01319
    Location:280776
    AMPD; AMP deaminase (AMPD) catalyzes the hydrolytic deamination of adensosine monophosphate (AMP) at position 6 of the adenine nucleotide ring. AMPD is a diverse and highly regulated eukaryotic key enzyme of the adenylate catabolic pathway.
  4. NM_004037.7NP_004028.3  AMP deaminase 2 isoform 1

    See identical proteins and their annotated locations for NP_004028.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 4. Variants 1 and 4 both encode the longest isoform (1).
    Source sequence(s)
    BC007711, BC030217, DA444620, U16268
    Consensus CDS
    CCDS805.1
    UniProtKB/Swiss-Prot
    Q01433
    UniProtKB/TrEMBL
    A0A024R098
    Related
    ENSP00000256578, OTTHUMP00000233629, ENST00000256578, OTTHUMT00000390615
    Conserved Domains (1) summary
    cd01319
    Location:355851
    AMPD; AMP deaminase (AMPD) catalyzes the hydrolytic deamination of adensosine monophosphate (AMP) at position 6 of the adenine nucleotide ring. AMPD is a diverse and highly regulated eukaryotic key enzyme of the adenylate catabolic pathway.
  5. NM_139156.3NP_631895.1  AMP deaminase 2 isoform 2

    See identical proteins and their annotated locations for NP_631895.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks the exon containing the translational start site compared to variant 4. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    BC007711, BC030217, DA558264
    Consensus CDS
    CCDS804.1
    UniProtKB/Swiss-Prot
    Q01433
    Related
    ENSP00000345498, OTTHUMP00000013369, ENST00000342115, OTTHUMT00000032223
    Conserved Domains (1) summary
    cd01319
    Location:274770
    AMPD; AMP deaminase (AMPD) catalyzes the hydrolytic deamination of adensosine monophosphate (AMP) at position 6 of the adenine nucleotide ring. AMPD is a diverse and highly regulated eukaryotic key enzyme of the adenylate catabolic pathway.
  6. NM_203404.1NP_981949.1  AMP deaminase 2 isoform 3

    See identical proteins and their annotated locations for NP_981949.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks three alternate 5' exons compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    BC007711, BC030217, M91029
    Consensus CDS
    CCDS30796.1
    UniProtKB/Swiss-Prot
    Q01433
    Related
    ENSP00000377292, OTTHUMP00000233634, ENST00000393688, OTTHUMT00000390620
    Conserved Domains (1) summary
    cd01319
    Location:236732
    AMPD; AMP deaminase (AMPD) catalyzes the hydrolytic deamination of adensosine monophosphate (AMP) at position 6 of the adenine nucleotide ring. AMPD is a diverse and highly regulated eukaryotic key enzyme of the adenylate catabolic pathway.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    109619659..109632055
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541247.1XP_011539549.1  

    Conserved Domains (1) summary
    cd01319
    Location:426922
    AMPD; AMP deaminase (AMPD) catalyzes the hydrolytic deamination of adensosine monophosphate (AMP) at position 6 of the adenine nucleotide ring. AMPD is a diverse and highly regulated eukaryotic key enzyme of the adenylate catabolic pathway.
  2. XM_011541248.1XP_011539550.1  

    Conserved Domains (1) summary
    cl00281
    Location:307594
    metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...
  3. XM_005270752.2XP_005270809.1  

    Related
    ENSP00000351573, OTTHUMP00000233630, ENST00000358729, OTTHUMT00000032228
    Conserved Domains (1) summary
    cd01319
    Location:280776
    AMPD; AMP deaminase (AMPD) catalyzes the hydrolytic deamination of adensosine monophosphate (AMP) at position 6 of the adenine nucleotide ring. AMPD is a diverse and highly regulated eukaryotic key enzyme of the adenylate catabolic pathway.

RNA

  1. XR_946607.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    110277359..110289620
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)