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Ampd2 adenosine monophosphate deaminase 2 [ Mus musculus (house mouse) ]

Gene ID: 109674, updated on 27-Nov-2024

Summary

Official Symbol
Ampd2provided by MGI
Official Full Name
adenosine monophosphate deaminase 2provided by MGI
Primary source
MGI:MGI:88016
See related
Ensembl:ENSMUSG00000027889 AllianceGenome:MGI:88016
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ampd-2; m4521Dajl; 1200014F01Rik
Summary
Enables AMP deaminase activity. Involved in purine ribonucleotide metabolic process. Acts upstream of or within several processes, including IMP biosynthetic process; cholesterol homeostasis; and podocyte development. Predicted to be active in cytosol. Is expressed in several structures, including endocrine gland; genitourinary system; nervous system; and vascular system. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 63 and pontocerebellar hypoplasia type 9. Orthologous to human AMPD2 (adenosine monophosphate deaminase 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in adrenal adult (RPKM 83.7), ovary adult (RPKM 28.5) and 26 other tissues See more
Orthologs
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Genomic context

See Ampd2 in Genome Data Viewer
Location:
3 F2.3; 3 46.83 cM
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (107981375..107993982, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (108074059..108086687, complement)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene 12502 Neighboring gene predicted gene, 36498 Neighboring gene glutathione S-transferase, mu 4 Neighboring gene predicted gene, 25592 Neighboring gene STARR-seq mESC enhancer starr_08678 Neighboring gene predicted gene 12500 Neighboring gene G protein subunit alpha transducin 2 Neighboring gene G protein subunit alpha i3 Neighboring gene STARR-positive B cell enhancer ABC_E2092

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables AMP deaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables AMP deaminase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables AMP deaminase activity ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in AMP metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in AMP metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ATP metabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in ATP metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in GMP salvage ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in GTP metabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in GTP metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in IMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within IMP biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within IMP biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in IMP salvage IEA
Inferred from Electronic Annotation
more info
 
involved_in IMP salvage IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cyclic purine nucleotide metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in cyclic purine nucleotide metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within energy homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within energy homeostasis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within nucleotide metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within podocyte development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
AMP deaminase 2
Names
adenosine monophosphate deaminase 2 (isoform L)
NP_001276648.1
NP_001276649.1
NP_001333594.1
NP_083055.1
XP_006500933.1
XP_006500934.1
XP_011238287.1
XP_030108216.1
XP_036018705.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001289719.1NP_001276648.1  AMP deaminase 2 isoform b

    See identical proteins and their annotated locations for NP_001276648.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
    Source sequence(s)
    AK004759, BC049119, CK389537
    Consensus CDS
    CCDS17749.1
    UniProtKB/Swiss-Prot
    Q9DBT5
    Related
    ENSMUSP00000099697.2, ENSMUST00000102637.8
    Conserved Domains (2) summary
    PLN03055
    Location:172774
    PLN03055; AMP deaminase; Provisional
    cd01319
    Location:275771
    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_001289720.1NP_001276649.1  AMP deaminase 2 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AK004759, AK034844, BC049119, BY209955
    UniProtKB/Swiss-Prot
    Q9DBT5
    Related
    ENSMUST00000136712.8
    Conserved Domains (2) summary
    PLN03055
    Location:198811
    PLN03055; AMP deaminase; Provisional
    cd01319
    Location:301808
    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_001346665.1NP_001333594.1  AMP deaminase 2 isoform d

    Status: VALIDATED

    Source sequence(s)
    AL671854
    Consensus CDS
    CCDS84663.1
    UniProtKB/Swiss-Prot
    A2AE27, A2AE28, Q91YI2, Q9DBT5
    Related
    ENSMUSP00000077946.6, ENSMUST00000078912.7
  4. NM_028779.5NP_083055.1  AMP deaminase 2 isoform b

    See identical proteins and their annotated locations for NP_083055.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
    Source sequence(s)
    AL671854, BC049119, CK389537
    Consensus CDS
    CCDS17749.1
    UniProtKB/Swiss-Prot
    Q9DBT5
    Related
    ENSMUSP00000099698.2, ENSMUST00000102638.8
    Conserved Domains (2) summary
    PLN03055
    Location:172774
    PLN03055; AMP deaminase; Provisional
    cd01319
    Location:275771
    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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    107981375..107993982 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006500871.5XP_006500934.1  AMP deaminase 2 isoform X3

    Conserved Domains (1) summary
    cd01319
    Location:277773
    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_011239985.4XP_011238287.1  AMP deaminase 2 isoform X1

    See identical proteins and their annotated locations for XP_011238287.1

    Conserved Domains (1) summary
    cd01319
    Location:238745
    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. XM_006500870.4XP_006500933.1  AMP deaminase 2 isoform X1

    See identical proteins and their annotated locations for XP_006500933.1

    Conserved Domains (1) summary
    cd01319
    Location:238745
    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. XM_036162812.1XP_036018705.1  AMP deaminase 2 isoform X2

    Conserved Domains (1) summary
    cd01319
    Location:238734
    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. XM_030252356.1XP_030108216.1  AMP deaminase 2 isoform X1

    Conserved Domains (1) summary
    cd01319
    Location:238745
    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.