• Gene id: 5554

Gene Summary

• Gene Symbol: PRH1   Gene   UCSC   Ensembl
• Aliases: Db-s, PA, PIF-S, PRH2, Pr1/Pr2
• Gene name: proline rich protein HaeIII subfamily 1
• Alternate names: salivary acidic proline-rich phosphoprotein 1/2, PRP-1/PRP-2, parotid acidic protein, parotid double-band protein, parotid isoelectric focusing variant protein, parotid proline-rich protein 1/2, protein C,
• Gene location: 12p13.2 (11171610: 10880964)     Exons: 8     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingua
• OMIM: 604037

SNPs

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

rs1025689

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

NC_000003.12   g.53849695C>A
NC_000003.12   g.53849695C>G
NC_000003.12   g.53849695C>T
NC_000003.11   g.53883722C>A
NC_000003.11   g.53883722C>G
NC_000003.11   g.53883722C>T
NG_028042.1   g.1699G>T
NG_028042.1   g.1699G>C
NG_028042.1   g.1699G>A
XM_005265310.5   c.126C>

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

KEGG pathways

Pathway id	Pathway name
hsa04970	Salivary secretion

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq