2. Gene
  3. AMPD2 - adenosine monophosphate deaminase 2 Gene

AMPD2 - adenosine monophosphate deaminase 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PCH9; SPG63

Gene ID: 271 | Gene type: protein coding

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

AMPD2 Protein Structure

A_deaminase

A_deaminase: Adenosine/AMP deaminase (411 - 817)

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  • 800
  • 879 a.a.
Protein Preferred Names Protein Names

AMP deaminase 2

AMPD

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
Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-103673 AMPD2 inhibitor 1 Inhibitor 99.36% Unkown
HY-152199 AMPD2 inhibitor 2 Inhibitor / Unkown
HY-RS00667 AMPD2 Human Pre-designed siRNA Set A / 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