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AMPD2 - adenosine monophosphate deaminase 2 Gene

Also Known as PCH9; SPG63

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 271

About AMPD2

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:109,619,837-109,632,055 (from NCBI)

This gene has 56 transcripts (splice variants), 285 orthologues, 2 paralogues and is associated with 5 phenotypes. Ubiquitous expression in bone marrow (RPKM 34.7), adrenal (RPKM 15.5) and 24 other tissues.

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]

AMPD2 Products (5)

mRNA	Protein	Name
NM_001257361.2	NP_001244290.1	AMP deaminase 2 isoform 4
NM_001308170.1	NP_001295099.1	AMP deaminase 2 isoform 5
NM_001368809.2	NP_001355738.1	AMP deaminase 2 isoform 1
NM_004037.9	NP_004028.4	AMP deaminase 2 isoform 1
NM_139156.4	NP_631895.1	AMP deaminase 2 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Références	Source
enables AMP deaminase activity	IGI IGI: Inferred from genetic interaction	23911318	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA

Biological Process GO Annotation	Evidence	Références	Source
acts upstream of or within IMP biosynthetic process	IGI IGI: Inferred from genetic interaction	23911318	GOA
involved in cyclic purine nucleotide metabolic process	IMP IMP: Inferred from mutant phenotype	23911318	GOA
acts upstream of or within energy homeostasis	IGI IGI: Inferred from genetic interaction	23911318	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AMPD2 Protein Structure

A_deaminase

0
200
400
600
800
879 a.a.

Protein Preferred Names	Protein Names
AMP deaminase 2	AMPD

AMPD2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	AMPD2	Q01433	TERF1	Homo sapiens	P54274	Pull Down	21044950
Intra	AMPD2	Q01433	CCNDBP1	Homo sapiens	O95273	Y2H Array	31515488
Intra	AMPD2	Q01433	CCNDBP1	Homo sapiens	O95273	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Pontocerebellar Hypoplasia, Type 9	Pontocerebellar Hypoplasia Type 9 PCH9 Pontocerebellar Hypoplasia 9 Hypoplasia, Pontocerebellar, Type 9
Spastic Paraplegia 63, Autosomal Recessive	SPG63 Hereditary Spastic Paraplegia 63 Spastic Paraplegia 63 Autosomal Recessive Spastic Paraplegia 63 Autosomal Recessive Spastic Paraplegia Type 63 Paraplegia, Spastic, Type 63, Autosomal Recessive
Spastic Ataxia	Spax Ataxia, Spastic
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Spastic Paraplegia 74, Autosomal Recessive	SPG74 Hereditary Spastic Paraplegia 74 Autosomal Recessive Spastic Paraplegia 74 Autosomal Recessive Spastic Paraplegia Type 74 Paraplegia, Spastic, Autosomal Recessive, Type 74
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Pontocerebellar Hypoplasia, Type 12	PCH12 Pontocerebellar Hypoplasia Type 12 Coasy-Related Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia 12 Doid:0112327 Hypoplasia, Pontocerebellar, Type 12
Pontocerebellar Hypoplasia, Type 11	PCH11 Pontocerebellar Hypoplasia Type 11 Pontocerebellar Hypoplasia Due To Tbc1d23 Pontocerebellar Hypoplasia 11 Doid:0112324
Spastic Paraplegia 64, Autosomal Recessive	SPG64 Hereditary Spastic Paraplegia 64 Autosomal Recessive Spastic Paraplegia Type 64 Autosomal Recessive Spastic Paraplegia 64 Paraplegia, Spastic, Type 64, Autosomal Recessive
Spastic Paraplegia 45, Autosomal Recessive	SPG45 Hereditary Spastic Paraplegia 45 Autosomal Recessive Spastic Paraplegia Type 45 Autosomal Recessive Spastic Paraplegia Type 65 Spg65 Autosomal Recessive Spastic Paraplegia 45 Paraplegia, Spastic, Type 45, Autosomal Recessive
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Pontocerebellar Hypoplasia, Type 1e	Pontocerebellar Hypoplasia Type 1 PCH1E Norman Disease Pch1 Pontocerebellar Hypoplasia With Anterior Horn Cell Disease Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy Pontocerebellar Hypoplasia Type 1e Pontocerebellar Hypoplasia 1e Doid:0112322 Doid:0112330
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-103673	AMPD2 inhibitor 1	Inhibitor	99.52%	Unkown
HY-152199	AMPD2 inhibitor 2	Inhibitor	/	Unkown
HY-RS00667	AMPD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18984	Ampd2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25473	Ampd2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AMPD2	VGNC	VGNC:69807
Bos taurus	AMPD2	VGNC	VGNC:25874
Rattus norvegicus	AMPD2	RGD	RGD:2110
Canis familiaris	AMPD2	VGNC	VGNC:37839
Felis catus	AMPD2	VGNC	VGNC:67518
Mus musculus	AMPD2	MGD	MGI:88016
Others	AMPD2	NCBI