• Gene id: 2280

Gene Summary

• Gene Symbol: FKBP1A   Gene   UCSC   Ensembl
• Aliases: FKBP-12, FKBP-1A, FKBP1, FKBP12, PKC12, PKCI2, PPIASE
• Gene name: FKBP prolyl isomerase 1A
• Alternate names: peptidyl-prolyl cis-trans isomerase FKBP1A, 12 kDa FK506-binding protein, 12 kDa FKBP, FK506 binding protein 1A, 12kDa, FK506 binding protein12, FK506-binding protein 1, FK506-binding protein 12, FK506-binding protein 1A, FK506-binding protein, T-cell, 12-kD, FKBP,
• Gene location: 20p13 (1393171: 1368976)     Exons: 5     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein is a cis-trans prolyl isomerase that binds the immun
• OMIM: 186945

SNPs

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  

rs79822589

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

NC_000001.11   g.86565961T>C
NC_000001.10   g.87031644T>C
NM_012128.4   c.895T>C
NM_012128.3   c.895T>C
XM_011541015.2   c.742T>C
NR_024602.1   n.830T>C
NR_024602.2   n.828T>C|SEQ=[T/C]|GENE=CLCA4

rs763334876

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

NC_000001.11   g.86567425G>A
NC_000001.10   g.87033108G>A
NM_012128.4   c.956G>A
NM_012128.3   c.956G>A
XM_011541015.2   c.803G>A
NR_024602.1   n.891G>A
NR_024602.2   n.889G>A
NP_036260.2   p.Gly319Asp
XP_011539317.1   p.Gly268Asp|SEQ=[G/A]|GENE=CLCA4

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  

rs190628533

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

NC_000001.11   g.86560300C>T
NC_000001.10   g.87025983C>T
NM_012128.4   c.390C>T
NM_012128.3   c.390C>T
XM_011541015.2   c.237C>T
NR_024602.1   n.434C>T
NR_024602.2   n.432C>T|SEQ=[C/T]|GENE=CLCA4

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

Diseases

Associated diseases	References
Chronic renal failure	GAD: 21085059
May compromise male fertility	MIK: 19234362
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
May compromise male fertility	MIK: 19234362
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19234362	May compromise male fertility				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881