Seroatlas · Human Serome Atlas

AMPD2

AMP deaminase 2

Also known as: AMPD2_HUMAN, SPG63

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q01433
Gene: AMPD2
Ensembl: ENSG00000116337
Chromosome: 1
Canonical length: 825 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Cytosol
Quaternary structure: Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

825 residues, UniProt reviewed canonical sequence.

>Q01433|AMPD2
     1  MASYPSGSGK PKAKYPFKKR ASLQASTAAP EARGGLGAPP LQSARSLPGP APCLKHFPLD
    61  LRTSMDGKCK EIAEELFTRS LAESELRSAP YEFPEESPIE QLEERRQRLE RQISQDVKLE
   121  PDILLRAKQD FLKTDSDSDL QLYKEQGEGQ GDRSLRERDV LEREFQRVTI SGEEKCGVPF
   181  TDLLDAAKSV VRALFIREKY MALSLQSFCP TTRRYLQQLA EKPLETRTYE QGPDTPVSAD
   241  APVHPPALEQ HPYEHCEPST MPGDLGLGLR MVRGVVHVYT RREPDEHCSE VELPYPDLQE
   301  FVADVNVLMA LIINGPIKSF CYRRLQYLSS KFQMHVLLNE MKELAAQKKV PHRDFYNIRK
   361  VDTHIHASSC MNQKHLLRFI KRAMKRHLEE IVHVEQGREQ TLREVFESMN LTAYDLSVDT
   421  LDVHADRNTF HRFDKFNAKY NPIGESVLRE IFIKTDNRVS GKYFAHIIKE VMSDLEESKY
   481  QNAELRLSIY GRSRDEWDKL ARWAVMHRVH SPNVRWLVQV PRLFDVYRTK GQLANFQEML
   541  ENIFLPLFEA TVHPASHPEL HLFLEHVDGF DSVDDESKPE NHVFNLESPL PEAWVEEDNP
   601  PYAYYLYYTF ANMAMLNHLR RQRGFHTFVL RPHCGEAGPI HHLVSAFMLA ENISHGLLLR
   661  KAPVLQYLYY LAQIGIAMSP LSNNSLFLSY HRNPLPEYLS RGLMVSLSTD DPLQFHFTKE
   721  PLMEEYSIAT QVWKLSSCDM CELARNSVLM SGFSHKVKSH WLGPNYTKEG PEGNDIRRTN
   781  VPDIRVGYRY ETLCQELALI TQAVQSEMLE TIPEEAGITM SPGPQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AMPD2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 69 nTPM

Expression across tissuesHPA

Tissue

basal ganglia: 69 nTPM
pituitary gland: 55 nTPM
choroid plexus: 50 nTPM
hippocampal formation: 40 nTPM
cerebral cortex: 39 nTPM
amygdala: 36 nTPM

Single-cell type

adrenal medulla cells: 96 nCPM
neutrophils: 80 nCPM
monocytes: 63 nCPM
platelets: 51 nCPM
somatotrophs: 50 nCPM
kupffer cells: 43 nCPM

Immune cell

neutrophil: 61 nTPM
non-classical monocyte: 45 nTPM
intermediate monocyte: 41 nTPM
classical monocyte: 19 nTPM
eosinophil: 19 nTPM
myeloid DC: 19 nTPM

Brain region

basal ganglia: 57 nTPM
hypothalamus: 52 nTPM
choroid plexus: 47 nTPM
hippocampal formation: 43 nTPM
pons: 43 nTPM
cerebral cortex: 42 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AMPD2.

Disease | AllUniProt

Conditions AMPD2 is implicated in, by any mechanism.

Pontocerebellar hypoplasia 9 (PCH9) MIM:615809
Spastic paraplegia 63, autosomal recessive (SPG63) MIM:615686

Disease | GeneticClinVar

49 pathogenic / likely-pathogenic of 564 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
Pontoneocerebellar hypoplasia
Inborn genetic diseases
Spastic ataxia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.64
gnomAD pLI: 0
gnomAD missense Z: 2.83
DepMap mean gene effect: -0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

AMP metabolic process
ATP metabolic process
cholesterol homeostasis
energy homeostasis
GMP salvage
GTP metabolic process
IMP biosynthetic process
IMP salvage
podocyte development
cyclic purine nucleotide metabolic process

Molecular functions

Cellular components

cytosol

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AMPD2 as an antibody target. Whether an autoantibody or antibody against AMPD2 could matter depends on whether native AMPD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AMPD2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label AMPD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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