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Gene id 5858
Gene Summary     SNPs    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol PZP   Gene   UCSC   Ensembl
Aliases CPAMD6
Gene name PZP alpha-2-macroglobulin like
Alternate names pregnancy zone protein, C3 and PZP-like alpha-2-macroglobulin domain-containing protein 6, Pregnancy zone protein, pregnancy-zone protein,
Gene location 12p13.31 (66002216: 65996544)     Exons: 6     NC_000011.10
Gene summary(Entrez) The protein encoded by this gene is highly expressed in late-pregnancy serum and is similar in structure to alpha-2-macroglobulin. The encoded protein, which acts as a homotetramer, inhibits the activity of all four classes of proteinases. This protein co
OMIM 176420

SNPs


rs3749474

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

NC_000004.12   g.55434518C>T
NC_000004.11   g.56300685C>T
NM_004898.4   c.*897G>A
NM_004898.3   c.*897G>A
XM_011534409.2   c.*897G>A
XM_005265787.2   c.*897G>A
XM_005265787.1   c.*897G>A
XM_011534410.2   c.*897G>A
XM_011534411.2   c.*897G>A
NM_001267843.1   c.*897G>A
XM  

rs1801260

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

NC_000004.12   g.55435202A>G
NC_000004.11   g.56301369A>G
NM_004898.4   c.*213T>C
NM_004898.3   c.*213T>C
XM_011534409.2   c.*213T>C
XM_005265787.2   c.*213T>C
XM_005265787.1   c.*213T>C
XM_011534410.2   c.*213T>C
XM_011534411.2   c.*213T>C
NM_001267843.1   c.*213T>C
XM  

rs6811520

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

NC_000004.12   g.55449011T>C
NC_000004.11   g.56315178T>C|SEQ=[T/C]|GENE=CLOCK
TMEM165   55858

Protein Summary

Gene ontology

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GO accessionTerm nameEvidence codeGo category
Associated diseases References
Spermatogenic defects MIK: 31037746
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
31037746 Spermatoge
nic defect
s

28 men with az
oospermia
Male infertility Microarray
Show abstract
31037746 Spermatoge
nic defect
s

16 (1 control,
15 cases)
Male infertility GSE6023 analyzed using GEO2R
Show abstract