• Gene id: 53

Gene Summary

• Gene Symbol: ACP2   Gene   UCSC   Ensembl
• Aliases: LAP
• Gene name: acid phosphatase 2, lysosomal
• Alternate names: lysosomal acid phosphatase,
• Gene location: 11p12-p11 (47248846: 47239301)     Exons: 12     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from th
• OMIM: 171650

SNPs

rs886039789

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

NC_000005.10   g.43615851C>G
NC_000005.10   g.43615851C>T
NC_000005.9   g.43615953C>G
NC_000005.9   g.43615953C>T
NG_032869.1   g.18163C>G
NG_032869.1   g.18163C>T
NM_182977.3   c.385C>G
NM_182977.3   c.385C>T
NM_182977.2   c.385C>G
NM_182977.2   c.385C>T
NM_012343.3   c.

rs35576928

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

NC_000016.10   g.11281137C>A
NC_000016.10   g.11281137C>G
NC_000016.9   g.11374994C>A
NC_000016.9   g.11374994C>G
NM_002761.3   c.102G>T
NM_002761.3   c.102G>C
NM_002761.2   c.102G>T
NM_002761.2   c.102G>C
NP_002752.1   p.Arg34Ser
NP_002752.1   p.Arg34Ser|SEQ=[C/A/G]|GE

rs28362491

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

NC_000004.12   g.102500998_102501001ATTG[1]
NC_000004.11   g.103422155_103422158ATTG[1]
NG_050628.1   g.4670_4673ATTG[1]|SEQ=[ATTG/-]|GENE=NFKB1
LOC105377621   105377621

rs11769380

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

NC_000007.14   g.6002891C>T
NC_000007.13   g.6042522C>T
NG_008466.1   g.11216G>A|SEQ=[C/T]|GENE=PMS2

rs11754464

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

NC_000006.12   g.31755958C>T
NC_000006.11   g.31723735C>T
NG_011611.1   g.20962C>T
NT_113891.3   g.3233215C>T
NT_113891.2   g.3233321C>T
NT_167245.2   g.3003732C>T
NT_167245.1   g.3009317C>T
NT_167247.2   g.3097847C>T
NT_167247.1   g.3103432C>T
NT_167248.2   g.3011780C>

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

rs4997052

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

NC_000006.12   g.31356367T>A
NC_000006.12   g.31356367T>G
NC_000006.11   g.31324144T>A
NC_000006.11   g.31324144T>G
NG_023187.1   g.5846A>T
NG_023187.1   g.5846A>C
NM_005514.8   c.419A>T
NM_005514.8   c.419A>C
NM_005514.7   c.419A>T
NM_005514.7   c.419A>C
NM_005514.6   c.

rs3741843

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

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

rs2301365

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

NC_000016.10   g.11281429G>T
NC_000016.9   g.11375286G>T|SEQ=[G/T]|GENE=PRM1
LOC105371082   105371082

rs2231599

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

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs2070923

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

NC_000016.10   g.11275998G>C
NC_000016.10   g.11275998G>T
NC_000016.9   g.11369855G>C
NC_000016.9   g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2
LOC105371082   105371082

rs1646022

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

NC_000016.10   g.11276073C>G
NC_000016.10   g.11276073C>T
NC_000016.9   g.11369930C>G
NC_000016.9   g.11369930C>T
NM_001286359.1   c.298G>C
NM_001286359.1   c.298G>A
NM_001286359.2   c.298G>C
NM_001286359.2   c.298G>A
NP_001273288.1   p.Ala100Pro
NP_001273288.1   p.Ala1

rs737008

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

NC_000016.10   g.11281009G>A
NC_000016.10   g.11281009G>T
NC_000016.9   g.11374866G>A
NC_000016.9   g.11374866G>T
NM_002761.3   c.139C>T
NM_002761.3   c.139C>A
NM_002761.2   c.139C>T
NM_002761.2   c.139C>A
NP_002752.1   p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1
LOC1053710  

rs680730

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

NC_000011.10   g.117604518C>T
NC_000011.9   g.117475233C>T
NG_051656.1   g.197744G>A|SEQ=[C/T]|GENE=DSCAML1

rs508485

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

NC_000011.10   g.94621313C>T
NC_000011.9   g.94354479C>T
NM_152431.3   c.*321C>T
NM_152431.2   c.*321C>T|SEQ=[C/T]|GENE=PIWIL4
LOC105369438   105369438

rs12676

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

NC_000003.12   g.53823776A>C
NC_000003.12   g.53823776A>T
NC_000003.11   g.53857803A>C
NC_000003.11   g.53857803A>T
NG_028042.1   g.27618T>G
NG_028042.1   g.27618T>A
NM_018397.5   c.233T>G
NM_018397.5   c.233T>A
NM_018397.4   c.233T>G
NM_018397.4   c.233T>A
XM_006713251  

rs7354779

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

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

rs7811653

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

NC_000007.14   g.46362671C>A
NC_000007.13   g.46402269C>A|SEQ=[C/A]

rs148454792

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

NC_000011.10   g.30233737C>A
NC_000011.9   g.30255284C>A
NG_008144.1   g.7722C>A
NM_000510.3   c.327C>A
NM_000510.2   c.327C>A
NM_001018080.2   c.327C>A
NM_001018080.1   c.327C>A
NP_000501.1   p.Ser109Arg
NP_001018090.1   p.Ser109Arg|SEQ=[C/A]|GENE=FSHB
LOC105376  

rs6170

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

NC_000011.10   g.30231961G>T
NC_000011.9   g.30253508G>T
NG_008144.1   g.5946G>T
NM_000510.3   c.59G>T
NM_000510.2   c.59G>T
NM_001018080.2   c.59G>T
NM_001018080.1   c.59G>T
NP_000501.1   p.Ser20Ile
NP_001018090.1   p.Ser20Ile|SEQ=[G/T]|GENE=FSHB
LOC105376607   10

rs1052133

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

NC_000003.12   g.9757089C>G
NC_000003.12   g.9757089C>T
NC_000003.11   g.9798773C>G
NC_000003.11   g.9798773C>T
NG_012106.1   g.12146C>G
NG_012106.1   g.12146C>T
NM_002542.5   c.977C>G
NM_002542.5   c.977C>T
NM_016819.3   c.*246C>G
NM_016819.3   c.*246C>T
NM_016820.3   c.

rs759981524

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

NC_000001.11   g.86579956A>C
NC_000001.11   g.86579956A>G
NC_000001.11   g.86579956A>T
NC_000001.10   g.87045639A>C
NC_000001.10   g.87045639A>G
NC_000001.10   g.87045639A>T
NM_012128.4   c.2371A>C
NM_012128.4   c.2371A>G
NM_012128.4   c.2371A>T
NM_012128.3   c.2371A>C
  

rs757773924

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

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

rs3779456

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

NC_000007.14   g.27174938T>C
NC_000007.13   g.27214557T>C|SEQ=[T/C]|GENE=HOXA10
HOXA10-HOXA9   100534589

rs1059060

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

NC_000007.14   g.5977709T>A
NC_000007.14   g.5977709T>C
NC_000007.13   g.6017340T>A
NC_000007.13   g.6017340T>C
NG_008466.1   g.36398A>T
NG_008466.1   g.36398A>G
NM_000535.7   c.2324A>T
NM_000535.7   c.2324A>G
NM_000535.6   c.2324A>T
NM_000535.6   c.2324A>G
NM_000535.5  

rs1042064

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

NC_000008.11   g.27544615T>C
NC_000008.10   g.27402132T>C
NG_012064.1   g.58488T>C
NM_001979.6   c.*93T>C
NM_001979.5   c.*93T>C
NM_001256484.2   c.*93T>C
NM_001256484.1   c.*93T>C
NM_001256482.2   c.*93T>C
NM_001256482.1   c.*93T>C
NM_001256483.2   c.*93T>C
NM_00125648  

rs7110167

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

NC_000011.10   g.94587071T>C
NC_000011.9   g.94320237T>C
NM_152431.3   c.738T>C
NM_152431.2   c.738T>C|SEQ=[T/C]|GENE=PIWIL4
LOC105369438   105369438

rs57607909

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

NC_000011.10   g.94593599G>C
NC_000011.9   g.94326765G>C
NM_152431.3   c.1108G>C
NM_152431.2   c.1108G>C
NP_689644.2   p.Ala370Pro|SEQ=[G/C]|GENE=PIWIL4
LOC105369438   105369438

rs593690

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

NC_000011.10   g.94604054C>A
NC_000011.10   g.94604054C>T
NC_000011.9   g.94337220C>A
NC_000011.9   g.94337220C>T
NM_152431.3   c.1636C>A
NM_152431.3   c.1636C>T
NM_152431.2   c.1636C>A
NM_152431.2   c.1636C>T
NP_689644.2   p.Leu546Met|SEQ=[C/A/T]|GENE=PIWIL4
L  

rs2291102

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

NC_000010.11   g.3148507G>A
NC_000010.10   g.3190699G>A
NG_052908.1   g.29335C>T
NR_038284.1   n.3954G>A|SEQ=[G/A]|GENE=PITRM1
PITRM1-AS1   100507034

rs1399645

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

NC_000002.12   g.139390262C>G
NC_000002.12   g.139390262C>T
NC_000002.11   g.140147832C>G
NC_000002.11   g.140147832C>T|SEQ=[C/G/T]|GENE=LOC105373644

rs2063802

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

NC_000002.12   g.139384878G>A
NC_000002.12   g.139384878G>C
NC_000002.11   g.140142448G>A
NC_000002.11   g.140142448G>C|SEQ=[G/A/C]|GENE=LOC105373644

rs4541736

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

NC_000006.12   g.40722258C>A
NC_000006.12   g.40722258C>G
NC_000006.12   g.40722258C>T
NC_000006.11   g.40689997C>A
NC_000006.11   g.40689997C>G
NC_000006.11   g.40689997C>T|SEQ=[C/A/G/T]|GENE=LOC105375052

Protein Summary

• Protein general information: P11117  
  • Name: Lysosomal acid phosphatase (LAP) (EC 3.1.3.2)
  • Length: 423  
  • Mass: 48344
• Sequence:

  MAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLLYRHGDRSPVKTYPKDPYQEEEWPQGFGQLTKEGMLQ
  HWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIPVHTVPITEDR
  LLKFPLGPCPRYEQLQNETRQTPEYQNESSRNAQFLDMVANETGLTDLTLETVWNVYDTLFCEQTHGLRLPPWAS
  PQTMQRLSRLKDFSFRFLFGIYQQAEKARLQGGVLLAQIRKNLTLMATTSQLPKLLVYSAHDTTLVALQMALDVY
  NGEQAPYASCHIFELYQEDSGNFSVEMYFRNESDKAPWPLSLPGCPHRCPLQDFLRLTEPVVPKDWQQECQLASG
  PADTEVIVALAVCGSILFLLIVLLLTVLFRMQAQPPGYRHVADGEDHA

• Structural information:
  • Interpro: IPR033379  IPR000560  IPR029033  
  • Prosite: PS00616 PS00778
  • CDD: cd07061
  • STRING: ENSP00000256997
• Other Databases: GeneCards:  ACP2  Malacards:  ACP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0003993	acid phosphatase activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0003993	acid phosphatase activity	IEA	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0007040	lysosome organization	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0003993	acid phosphatase activity	IEA	molecular function
GO:0001501	skeletal system development	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0043202	lysosomal lumen	IEA	cellular component
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04142	Lysosome
hsa00740	Riboflavin metabolism

Diseases

Associated diseases	References
Acid phosphatase deficiency	KEGG:H01113
Acid phosphatase deficiency	KEGG:H01113
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)