InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AMPD2

Summary

InnateDB Protein

IDBP-100857.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AMPD2

Protein Name

adenosine monophosphate deaminase 2

Synonyms

PCH9; SPG63;

Species

Homo sapiens

Ensembl Protein

ENSP00000345498

InnateDB Gene

IDBG-100855 (AMPD2)

Protein Structure

UniProt Annotation

Function

AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle. {ECO:0000269PubMed:23911318}.

Subcellular Localization

Disease Associations

Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809]: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH9 features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination. {ECO:0000269PubMed:23911318}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spastic paraplegia 63, autosomal recessive (SPG63) [MIM:615686]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269PubMed:24482476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in cerebellum. Three isoforms are present in mammals: AMP deaminase 1 is the predominant form in skeletal muscle; AMP deaminase 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated myoblasts; AMP deaminase 3 is found in erythrocytes. {ECO:0000269PubMed:23911318}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003876	AMP deaminase activity
GO:0019239	deaminase activity
GO:0046872	metal ion binding

Biological Process

GO:0006144	purine nucleobase metabolic process
GO:0006188	IMP biosynthetic process
GO:0032264	IMP salvage
GO:0043101	purine-containing compound salvage
GO:0044281	small molecule metabolic process
GO:0052652	cyclic purine nucleotide metabolic process
GO:0055086	nucleobase-containing small molecule metabolic process
GO:0097009	energy homeostasis