• Gene id: 271

Gene Summary

• Gene Symbol: AMPD2   Gene   UCSC   Ensembl
• Aliases: PCH9, SPG63
• Gene name: adenosine monophosphate deaminase 2
• Alternate names: AMP deaminase 2, AMPD, adenosine monophosphate deaminase 2 (isoform L),
• Gene location: 1p13.3 (69351785: 69343249)     Exons: 4     NC_000016.10
• Gene summary(Entrez): 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 b
• OMIM: 102771

SNPs

rs7004637

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.42392929A>G
NC_000008.10   g.42250447A>G|SEQ=[A/G]|GENE=VDAC3
DKK4   27121

rs1106042

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.130357093G>A
NC_000012.11   g.130841638G>A
NT_187589.1   g.34018G>A
NM_004764.4   c.1580G>A
NM_004764.5   c.1580G>A
XM_011539004.3   c.1580G>A
XM_011539002.3   c.1580G>A
XM_011539003.3   c.1580G>A
XM_011539006.3   c.440G>A
XM_011539005.1   c.1580G>A
XM_  

rs5764698

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.45354103G>C
NC_000022.11   g.45354103G>T
NC_000022.10   g.45749983G>C
NC_000022.10   g.45749983G>T
NM_148674.5   c.3148C>G
NM_148674.5   c.3148C>A
NM_148674.4   c.3148C>G
NM_148674.4   c.3148C>A
NM_148674.3   c.3148C>G
NM_148674.3   c.3148C>A
XR_244368.  

Protein Summary

• Protein general information: Q01433  
  • Name: AMP deaminase 2 (EC 3.5.4.6) (AMP deaminase isoform L)
  • Length: 879  
  • Mass: 100688
  • Tissue specificity: Highly expressed in cerebellum. {ECO
• Sequence:

  MRNRGQGLFRLRSRCFLHQSLPLGAGRRKGLDVAEPGPSRCRSDSPAVAAVVPAMASYPSGSGKPKAKYPFKKRA
  SLQASTAAPEARGGLGAPPLQSARSLPGPAPCLKHFPLDLRTSMDGKCKEIAEELFTRSLAESELRSAPYEFPEE
  SPIEQLEERRQRLERQISQDVKLEPDILLRAKQDFLKTDSDSDLQLYKEQGEGQGDRSLRERDVLEREFQRVTIS
  GEEKCGVPFTDLLDAAKSVVRALFIREKYMALSLQSFCPTTRRYLQQLAEKPLETRTYEQGPDTPVSADAPVHPP
  ALEQHPYEHCEPSTMPGDLGLGLRMVRGVVHVYTRREPDEHCSEVELPYPDLQEFVADVNVLMALIINGPIKSFC
  YRRLQYLSSKFQMHVLLNEMKELAAQKKVPHRDFYNIRKVDTHIHASSCMNQKHLLRFIKRAMKRHLEEIVHVEQ
  GREQTLREVFESMNLTAYDLSVDTLDVHADRNTFHRFDKFNAKYNPIGESVLREIFIKTDNRVSGKYFAHIIKEV
  MSDLEESKYQNAELRLSIYGRSRDEWDKLARWAVMHRVHSPNVRWLVQVPRLFDVYRTKGQLANFQEMLENIFLP
  LFEATVHPASHPELHLFLEHVDGFDSVDDESKPENHVFNLESPLPEAWVEEDNPPYAYYLYYTFANMAMLNHLRR
  QRGFHTFVLRPHCGEAGPIHHLVSAFMLAENISHGLLLRKAPVLQYLYYLAQIGIAMSPLSNNSLFLSYHRNPLP
  EYLSRGLMVSLSTDDPLQFHFTKEPLMEEYSIATQVWKLSSCDMCELARNSVLMSGFSHKVKSHWLGPNYTKEGP
  EGNDIRRTNVPDIRVGYRYETLCQELALITQAVQSEMLETIPEEAGITMSPGPQ

• Structural information:
  • Interpro: IPR006650  IPR001365  IPR006329  IPR029749  IPR032466  
  • Prosite: PS00485
  • CDD: cd01319
  • PDB: 4NO3 4NO5
  • PDBsum: 4NO3 4NO5
  • STRING: ENSP00000256578
• Other Databases: GeneCards:  AMPD2  Malacards:  AMPD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046033	AMP metabolic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0003876	AMP deaminase activity	IBA	molecular function
GO:0006188	IMP biosynthetic process	IBA	biological process
GO:0052652	cyclic purine nucleotide metabolic process	IMP	biological process
GO:0003876	AMP deaminase activity	IEA	molecular function
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0019239	deaminase activity	IEA	molecular function
GO:0032264	IMP salvage	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0009117	nucleotide metabolic process	IEA	biological process
GO:0003876	AMP deaminase activity	IEA	molecular function
GO:0003876	AMP deaminase activity	IGI	molecular function
GO:0097009	energy homeostasis	IGI	biological process
GO:0006188	IMP biosynthetic process	IGI	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0043101	purine-containing compound salvage	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0032264	IMP salvage	IEA	biological process
GO:0003876	AMP deaminase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Pontocerebellar hypoplasia	KEGG:H00897
Hereditary spastic paraplegia	KEGG:H00266
Pontocerebellar hypoplasia	KEGG:H00897
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq