• Gene id: 98

Gene Summary

• Gene Symbol: ACYP2   Gene   UCSC   Ensembl
• Aliases: ACYM, ACYP
• Gene name: acylphosphatase 2
• Alternate names: acylphosphatase-2, acylphosphatase 2, muscle type, acylphosphatase, muscle type isozyme, acylphosphate phosphohydrolase 2, testicular tissue protein Li 11,
• Gene location: 2p16.2 (53970837: 54305299)     Exons: 16     NC_000002.12
• Gene summary(Entrez): Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte ac
• OMIM: 617716

SNPs

rs1131692251

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

NC_000003.12   g.52357615T>G
NC_000003.11   g.52391631T>G
NG_052911.1   g.46297T>G
NM_015512.5   c.3860T>G
NM_015512.4   c.3860T>G
XR_001740098.1   n.7009T>G
XM_017006129.1   c.3860T>G
XM_017006130.1   c.3860T>G
XM_017006131.1   c.3860T>G
XR_001740099.1   n.7009T>G
XM_0  

rs1131692250

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

NC_000003.12   g.52386159G>A
NC_000003.12   g.52386159G>C
NC_000003.11   g.52420175G>A
NC_000003.11   g.52420175G>C
NG_052911.1   g.74841G>A
NG_052911.1   g.74841G>C|SEQ=[G/A/C]|GENE=DNAH1

rs1131692234

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

NC_000003.12   g.52397706G>A
NC_000003.11   g.52431722G>A
NG_052911.1   g.86388G>A|SEQ=[G/A]|GENE=DNAH1

rs779490893

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000003.12   g.52396983_52396984del
NC_000003.11   g.52430999_52431000del
NG_052911.1   g.85665_85666del
NM_015512.5   c.11726_11727del
NM_015512.4   c.11726_11727del
XR_001740098.1   n.14944_14945del
XM_017006129.1   c.11795_11796del
XM_017006130.1   c.11726_1172

rs757326350

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

NC_000012.12   g.18688215T>A
NC_000012.12   g.18688215T>C
NC_000012.11   g.18841149T>A
NC_000012.11   g.18841149T>C
NG_050635.1   g.450251T>A
NG_050635.1   g.450251T>C
NG_052826.1   g.54845A>T
NG_052826.1   g.54845A>G
NM_033123.4   c.1465A>T
NM_033123.4   c.1465A>G
NM_0  

rs397515392

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

NC_000003.12   g.180661860C>G
NC_000003.11   g.180379648C>G
NG_029581.1   g.22636G>C|SEQ=[C/G]|GENE=CCDC39

rs140883175

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

NC_000003.12   g.52357632G>A
NC_000003.12   g.52357632G>C
NC_000003.11   g.52391648G>A
NC_000003.11   g.52391648G>C
NG_052911.1   g.46314G>A
NG_052911.1   g.46314G>C
NM_015512.5   c.3877G>A
NM_015512.5   c.3877G>C
NM_015512.4   c.3877G>A
NM_015512.4   c.3877G>C
XR_00174  

rs55763075

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

NC_000001.11   g.11790377C>T
NC_000001.10   g.11850434C>T
NG_013351.1   g.20727G>A
NM_005957.5   c.*303G>A
NM_005957.4   c.*303G>A
NM_001330358.1   c.*303G>A
XM_005263460.5   c.*303G>A
XM_005263460.1   c.*303G>A
XM_005263463.4   c.*303G>A
XM_005263463.1   c.*303G>A
XM_0  

rs17840762

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

NC_000009.12   g.125241708G>A
NC_000009.11   g.128003987G>A
NG_027761.1   g.4680C>T
NG_063123.1   g.439G>A
XR_001746927.1   n.46G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs17840761

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

NC_000009.12   g.125241700G>A
NC_000009.11   g.128003979G>A
NG_027761.1   g.4688C>T
NG_063123.1   g.431G>A
XR_001746927.1   n.38G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs16968382

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

NC_000015.10   g.76586021A>C
NC_000015.9   g.76878362A>C|SEQ=[A/C]|GENE=SCAPER
MIR3713   100500855

rs12088543

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

NC_000001.11   g.84252300T>C
NC_000001.10   g.84717983T>C|SEQ=[T/C]|GENE=LOC107985046

rs7969759

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

NC_000012.12   g.67435923G>A
NC_000012.11   g.67829703G>A|SEQ=[G/A]|GENE=LOC105369812

rs7867029

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

NC_000009.12   g.78405502G>C
NC_000009.11   g.81020418G>C|SEQ=[G/C]|GENE=LOC107987083

rs4045481

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

NC_000004.12   g.1096837G>A
NC_000004.11   g.1090625G>A
NG_027812.2   g.21958C>T
NG_027812.1   g.21728C>T
NM_001131034.4   c.174C>T
NM_001131034.3   c.174C>T
NM_194439.4   c.174C>T
NM_001193318.3   c.174C>T
NM_001193318.2   c.174C>T
NR_159501.1   n.486C>T
NR_159498.1   n.

rs3816183

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

NC_000002.12   g.42788579T>C
NC_000002.11   g.43015719T>C
XM_005264230.4   c.109A>G
XM_005264230.1   c.109A>G
XM_011532730.3   c.7A>G
XM_011532729.3   c.109A>G
XM_011532731.3   c.109A>G
NM_012205.3   c.109A>G
NM_012205.2   c.109A>G
XM_017003717.2   c.7A>G
XM_024452774.1  

rs3216733

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.125241516_125241517del
NC_000009.12   g.125241517del
NC_000009.12   g.125241517dup
NC_000009.12   g.125241516_125241517dup
NC_000009.11   g.128003795_128003796del
NC_000009.11   g.128003796del
NC_000009.11   g.128003796dup
NC_000009.11   g.128003795

rs3000811

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

NC_000001.11   g.227400755G>A
NC_000001.11   g.227400755G>C
NC_000001.10   g.227588456G>A
NC_000001.10   g.227588456G>C|SEQ=[G/A/C]|GENE=LINC01641

rs2057951

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

NC_000022.11   g.31334059A>G
NC_000022.10   g.31730045A>G|SEQ=[A/G]|GENE=PATZ1
PIK3IP1-DT   101929760

rs1805388

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

NC_000013.11   g.108211243G>A
NC_000013.10   g.108863591G>A
NG_007396.1   g.9292C>T
NM_002312.3   c.26C>T
NM_001352599.2   c.26C>T
NM_001352599.1   c.26C>T
NM_001352598.2   c.26C>T
NM_001352598.1   c.26C>T
NM_001352600.2   c.26C>T
NM_001352600.1   c.26C>T
NM_001352601.2  

rs2032278

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

NC_000018.10   g.77572081A>G
NC_000018.10   g.77572081A>T
NC_000018.9   g.75284037A>G
NC_000018.9   g.75284037A>T|SEQ=[A/G/T]|GENE=LOC107985172

rs1800734

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

NC_000003.12   g.36993455G>A
NC_000003.12   g.36993455G>C
NC_000003.11   g.37034946G>A
NC_000003.11   g.37034946G>C
NG_007109.2   g.5106G>A
NG_007109.2   g.5106G>C
NM_000249.3   c.-93G>A
NM_000249.3   c.-93G>C
NM_001258274.2   c.-1188G>A
NM_001258274.2   c.-1188G>C
NM_0  

rs11857513

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

NC_000015.10   g.50497226G>A
NC_000015.10   g.50497226G>C
NC_000015.9   g.50789423G>A
NC_000015.9   g.50789423G>C
NG_047101.1   g.77850G>A
NG_047101.1   g.77850G>C
NM_001128610.2   c.3033G>A
NM_001128610.2   c.3033G>C
NM_001128610.3   c.3033G>A
NM_001128610.3   c.3033G>

rs553509

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

NC_000023.11   g.104013293T>C
NW_004070885.1   g.149709T>C
NG_016406.2   g.5396A>G
NM_001002916.4   c.368A>G
NC_000023.10   g.103267865C>T
NP_001002916.3   p.His123Arg|SEQ=[T/C]|GENE=H2BW1

rs7885967

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

NC_000023.11   g.104013669G>A
NW_004070885.1   g.150085G>A
NG_016406.2   g.5020C>T
NM_001002916.4   c.-9C>T
NC_000023.10   g.103268241G>A|SEQ=[G/A]|GENE=H2BW1

rs2976084

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

NC_000003.12   g.75456899G>A
NC_000003.12   g.75456899G>T
NC_000003.11   g.75506050G>A
NC_000003.11   g.75506050G>T
NG_025593.1   g.34405C>T
NG_025593.1   g.34405C>A
NR_151706.1   n.721G>A
NR_151706.1   n.721G>T|SEQ=[G/A/T]|GENE=LINC02018

Protein Summary

• Protein general information: P14621  
  • Name: Acylphosphatase 2 (EC 3.6.1.7) (Acylphosphatase, muscle type isozyme) (Acylphosphate phosphohydrolase 2)
  • Length: 99  
  • Mass: 11140
• Sequence:

  MSTAQSLKSVDYEVFGRVQGVCFRMYTEDEARKIGVVGWVKNTSKGTVTGQVQGPEDKVNSMKSWLSKVGSPSSR
  IDRTNFSNEKTISKLEYSNFSIRY

• Structural information:
  • Protein Domains: (9..9-)
    (/note="Acylphosphatase-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00520"-)
  • Interpro: IPR020456  IPR001792  IPR036046  IPR017968  
  • Prosite: PS00150 PS00151 PS51160
  • DIP: 48449
  • STRING: ENSP00000378161
• Other Databases: GeneCards:  ACYP2  Malacards:  ACYP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003998	acylphosphatase activity	IBA	molecular function
GO:0003998	acylphosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003998	acylphosphatase activity	TAS	molecular function
GO:0006796	phosphate-containing compound metabolic process	TAS	biological process
GO:0003998	acylphosphatase activity	IEA	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00620	Pyruvate metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq