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

    Gene ID: 271, updated on 14-Nov-2024

    Summary

    Official Symbol
    AMPD2provided by HGNC
    Official Full Name
    adenosine monophosphate deaminase 2provided by HGNC
    Primary source
    HGNC:HGNC:469
    See related
    Ensembl:ENSG00000116337 MIM:102771; AllianceGenome:HGNC:469
    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
    AMPD; 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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 34.7), adrenal (RPKM 15.5) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See AMPD2 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109619837..109632055)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109652557..109664776)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110162459..110174677)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene G protein subunit alpha i3 Neighboring gene MPRA-validated peak357 silencer Neighboring gene microRNA 197 Neighboring gene G protein subunit alpha transducin 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:110161626-110162156 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:110162157-110162685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110163216-110163744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110164805-110165334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110166705-110167518 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:110170748-110171947 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110171947-110172506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110173069-110173628 Neighboring gene Sharpr-MPRA regulatory region 1493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110186678-110187551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110199362-110199947 Neighboring gene ribosomal protein L7 pseudogene 8 Neighboring gene glutathione S-transferase mu 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hereditary spastic paraplegia 63
    MedGen: C3810295 OMIM: 615686 GeneReviews: Not available
    Compare labs
    Pontocerebellar hypoplasia type 9
    MedGen: C4014354 OMIM: 615809 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of recurrent early-onset major depressive disorder.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables AMP deaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables AMP deaminase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables AMP deaminase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in AMP metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ATP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in GTP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in IMP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within IMP biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in IMP salvage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cyclic purine nucleotide metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within energy homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in podocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    AMP deaminase 2
    Names
    adenosine monophosphate deaminase 2 (isoform L)
    NP_001244290.1
    NP_001295099.1
    NP_001355738.1
    NP_004028.4
    NP_631895.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5025..17239
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001257361.2NP_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/TrEMBL
      H0YF16
      Related
      ENSP00000437164.1, ENST00000528454.5
      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.
    2. 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
      UniProtKB/TrEMBL
      H0YF16
      Related
      ENSP00000437025.2, ENST00000476688.3
      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.
    3. NM_001368809.2NP_001355738.1  AMP deaminase 2 isoform 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)
      AL355310
      Consensus CDS
      CCDS805.2
      UniProtKB/Swiss-Prot
      A0A5F9UK94, B4DK50, B4DZI5, E9PNG0, Q01433, Q14856, Q14857, Q16686, Q16687, Q16688, Q16729, Q5T693, Q5T695, Q96IA1, Q9UDX8, Q9UDX9, Q9UMU4
      UniProtKB/TrEMBL
      H0Y360
      Related
      ENSP00000436541.2, ENST00000528667.7
      Conserved Domains (1) summary
      cd01319
      Location:301797
      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_004037.9NP_004028.4  AMP deaminase 2 isoform 1

      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)
      AL355310
      Consensus CDS
      CCDS805.2
      UniProtKB/Swiss-Prot
      A0A5F9UK94, B4DK50, B4DZI5, E9PNG0, Q01433, Q14856, Q14857, Q16686, Q16687, Q16688, Q16729, Q5T693, Q5T695, Q96IA1, Q9UDX8, Q9UDX9, Q9UMU4
      UniProtKB/TrEMBL
      H0Y360
      Related
      ENSP00000256578.4, ENST00000256578.8
      Conserved Domains (1) summary
      cd01319
      Location:301797
      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_139156.4NP_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, DA558264
      Consensus CDS
      CCDS804.1
      UniProtKB/TrEMBL
      H0Y360
      Related
      ENSP00000345498.4, ENST00000342115.8
      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.

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      109619837..109632055
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      109652557..109664776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_203404.1: Suppressed sequence

      Description
      NM_203404.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.