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

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, Dec 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 83.7), ovary adult (RPKM 28.5) and 26 other tissues See more
Orthologs: human all
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Genomic context

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_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Activation of AMPD2 drives metabolic dysregulation and liver disease in mice with hereditary fructose intolerance.
Title: Activation of AMPD2 drives metabolic dysregulation and liver disease in mice with hereditary fructose intolerance.
AMPD2 plays important roles in regulating hepatic glucose and lipid metabolism.
Title: AMPD2 plays important roles in regulating hepatic glucose and lipid metabolism.
A novel mouse model of transient hypercholesterolemia with concurrent nephrotic syndrome associated with defective Ampd2 function.
Title: A mutation in Ampd2 is associated with nephrotic syndrome and hypercholesterolemia in mice.
In diabetic mice, AMPD2 activation counterregulates AMPK and increases hepatic glucose production, in association with up-regulation of PEPCK and G6Pc.
Title: Uric acid-dependent inhibition of AMP kinase induces hepatic glucose production in diabetes and starvation: evolutionary implications of the uricase loss in hominids.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_6741-6742:992007367:3 (e-PCR)
- UniSTS:231256

MARC_6497-6498:996689707:1 (e-PCR)
- UniSTS:269662

AI552571 (e-PCR)
- UniSTS:164220

MARC_5351-5352:996690313:1 (e-PCR)
- UniSTS:269491

MARC3487-3488 (e-PCR)
- UniSTS:207096

MARC_3487-3488:996679124:1 (e-PCR)
- UniSTS:207096

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

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Preferred Names: AMP deaminase 2

Names: adenosine monophosphate deaminase 2 (isoform L)

NP_001276648.1

EC 3.5.4.6

NP_001276649.1

EC 3.5.4.6

NP_001333594.1

EC 3.5.4.6

NP_083055.1

EC 3.5.4.6

XP_006500933.1

EC 3.5.4.6

XP_006500934.1

EC 3.5.4.6

XP_011238287.1

EC 3.5.4.6

XP_030108216.1

EC 3.5.4.6

XP_036018705.1

EC 3.5.4.6

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)

NM_001289719.1 → NP_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:172 → 774

PLN03055; AMP deaminase; Provisional

cd01319
Location:275 → 771

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.
NM_001289720.1 → NP_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:198 → 811

PLN03055; AMP deaminase; Provisional

cd01319
Location:301 → 808

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.
NM_001346665.1 → NP_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
NM_028779.5 → NP_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:172 → 774

PLN03055; AMP deaminase; Provisional

cd01319
Location:275 → 771

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

NC_000069.7 Reference GRCm39 C57BL/6J

Range

107981375..107993982 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

cd01319
Location:277 → 773

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.
XM_011239985.4 → XP_011238287.1 AMP deaminase 2 isoform X1

See identical proteins and their annotated locations for XP_011238287.1

Conserved Domains (1) summary

cd01319
Location:238 → 745

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.
XM_006500870.4 → XP_006500933.1 AMP deaminase 2 isoform X1

See identical proteins and their annotated locations for XP_006500933.1

Conserved Domains (1) summary

cd01319
Location:238 → 745

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.
XM_036162812.1 → XP_036018705.1 AMP deaminase 2 isoform X2

Conserved Domains (1) summary

cd01319
Location:238 → 734

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.
XM_030252356.1 → XP_030108216.1 AMP deaminase 2 isoform X1

Conserved Domains (1) summary

cd01319
Location:238 → 745

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.