Ampd2 MGI Mouse Gene Detail - MGI:88016 - adenosine monophosphate deaminase 2

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Ampd2 Gene Detail

Symbol

Ampd2
Name

adenosine monophosphate deaminase 2
Synonyms

1200014F01Rik, Ampd-2, m4521Dajl

Feature Type

protein coding gene
IDs

MGI:88016
NCBI Gene: 109674
Alliance

gene page
Transcription Start Sites

5 TSS
Candidate for QTL

3 QTL

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Sequence Map

Chr3:107981378-107993967 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 46.83 cM
Mapping Data

5 experiments

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SNPs within 2kb

295 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_88016	protein coding gene	Chr3:107981375-107993982 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0027764	protein coding gene	Chr3:109606660-109619249 (-)
A/J	MGP_AJ_G0027724	protein coding gene	Chr3:106131659-106144248 (-)
AKR/J	MGP_AKRJ_G0027689	protein coding gene	Chr3:108718458-108731047 (-)
BALB/cJ	MGP_BALBcJ_G0027736	protein coding gene	Chr3:105835147-105847736 (-)
C3H/HeJ	MGP_C3HHeJ_G0027466	protein coding gene	Chr3:109059175-109071764 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0028180	protein coding gene	Chr3:113700166-113712755 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025518	protein coding gene	Chr3:102284520-102297328 (-)
CAST/EiJ	MGP_CASTEiJ_G0026922	protein coding gene	Chr3:108438868-108451474 (-)
CBA/J	MGP_CBAJ_G0027441	protein coding gene	Chr3:117567282-117579871 (-)
DBA/2J	MGP_DBA2J_G0027583	protein coding gene	Chr3:105314991-105327580 (-)
FVB/NJ	MGP_FVBNJ_G0027551	protein coding gene	Chr3:103201776-103214365 (-)
LP/J	MGP_LPJ_G0027690	protein coding gene	Chr3:111025690-111038279 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027581	protein coding gene	Chr3:123638738-123651327 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028235	protein coding gene	Chr3:108311330-108324013 (-)
PWK/PhJ	MGP_PWKPhJ_G0026648	protein coding gene	Chr3:105063227-105075937 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0026468	protein coding gene	Chr3:106446592-106459104 (-)
WSB/EiJ	MGP_WSBEiJ_G0027002	protein coding gene	Chr3:108841683-108854272 (-)

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Human Ortholog

AMPD2, adenosine monophosphate deaminase 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AMPD2, adenosine monophosphate deaminase 2
Synonyms

AMPD, PCH9, SPG63
Links

HGNC:469

NCBI Gene ID: 271

neXtProt AC: NX_Q01433

UniProt: Q01433
Chr Location

1p13.3; chr1:109616104-109632055 (+) GRCh38

MGI Vertebrate Homology

Ampd2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: AMPD2
Protein SuperFamily

AMP_deaminase_met
Gene Tree

Ampd2

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Diseases

2 with human AMPD2 associations

				Human Disease	Mouse Models
				hereditary spastic paraplegia 63 IDs hereditary spastic paraplegia 63 DOID:0110814 ICD10CM:G11.4 OMIM:615686 ORDO:401805
				pontocerebellar hypoplasia type 9 IDs pontocerebellar hypoplasia type 9 DOID:0060278 ICD10CM:Q04.3 OMIM:615809 ORDO:369920

Click on a disease name to see all genes associated with that disease.

References

1 with disease annotations

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Phenotype Summary

18 phenotypes from 3 alleles in 4 genetic backgrounds
5 phenotypes from multigenic genotypes
21 phenotype references

Phenotype Overview

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

16
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

7
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Ampd2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

45 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit proteinuria, tubules filled with protein casts and podocyte process effacement.

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All GO Annotations

29
GO References

12

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

818
Tissues

105
cDNA Data

10
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ampd2

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All Sequences

72
RefSeq

18
UniProt

1
CCDS

CCDS17749.1, CCDS84663.1

Ensembl

ENSMUSG00000027889 (Evidence)
NCBI Gene

109674

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000027889	Ensembl Gene Model \| MGI Sequence Detail	12590	C57BL/6J	± kb
	transcript	ENSMUST00000078912	Ensembl \| MGI Sequence Detail	3368	Not Applicable
	polypeptide	ENSMUSP00000077946	Ensembl \| MGI Sequence Detail	824	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000004002 AMP deaminase 2

(term hierarchy)
EC

3.5.4.6
InterPro Domains

IPR006650 Adenosine/AMP deaminase active site

IPR006329 AMP deaminase

IPR032466 Metal-dependent hydrolase

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All nucleic 11

cDNA 11

Microarray probesets 5

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MGD-MRK-1308, MGD-MRK-1310, MGI:1921388, MGI:2139756, MGI:3848343

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Summaries

All 56

Developmental Gene Expression 2

Diseases 1

Gene Ontology 12

Phenotypes 21
Earliest

J:10446 Moseley WS, et al., Ampd-2 maps to distal mouse chromosome 3 in linkage with Ampd-1. Genomics. 1990 Mar;6(3):572-4
Latest

J:352299 Andres-Hernando A, et al., Activation of AMPD2 drives metabolic dysregulation and liver disease in mice with hereditary fructose intolerance. Commun Biol. 2024 Jul 11;7(1):849

TSS for Ampd2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr35125	Chr3:107993906-107994023 (-)	2 bp
Tssr35124	Chr3:107992738-107992754 (-)	1,221 bp
Tssr35123	Chr3:107992662-107992728 (-)	1,272 bp
Tssr35122	Chr3:107989708-107989740 (-)	4,243 bp
Tssr35121	Chr3:107988458-107988460 (-)	5,508 bp

Ampd2 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Bglq3	Chr3, 76.22 cM		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 3, Hps3 (12.5 cM) showed differential expression between A/a and A/A animals on the unrestricted diet. Diabesity QTL Insq3 (2.6 cM) maps near this candidate gene.Candidate genes for diabesity QTLs Bglq3 (49 cM) and Wt10q2 (61 cM) are Fabp2 (55 cM) and Ampd2 (50.4 cM). Fabp2 shows differential expression between the restricted and unrestricted diets on the A/a background and Ampd2 shows differential expression between the restricted and unrestricted diets on the A/A background.
Insq3	Chr3, syntenic		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 3, Hps3 (12.5 cM) showed differential expression between A/a and A/A animals on the unrestricted diet. Diabesity QTL Insq3 (2.6 cM) maps near this candidate gene.Candidate genes for diabesity QTLs Bglq3 (49 cM) and Wt10q2 (61 cM) are Fabp2 (55 cM) and Ampd2 (50.4 cM). Fabp2 shows differential expression between the restricted and unrestricted diets on the A/a background and Ampd2 shows differential expression between the restricted and unrestricted diets on the A/A background.
Wt10q2	Chr3, syntenic		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 3, Hps3 (12.5 cM) showed differential expression between A/a and A/A animals on the unrestricted diet. Diabesity QTL Insq3 (2.6 cM) maps near this candidate gene.Candidate genes for diabesity QTLs Bglq3 (49 cM) and Wt10q2 (61 cM) are Fabp2 (55 cM) and Ampd2 (50.4 cM). Fabp2 shows differential expression between the restricted and unrestricted diets on the A/a background and Ampd2 shows differential expression between the restricted and unrestricted diets on the A/A background.

*cM position of peak correlated region/marker

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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