• Gene id: 3315

Gene Summary

• Gene Symbol: HSPB1   Gene   UCSC   Ensembl
• Aliases: CMT2F, HEL-S-102, HMN2B, HS.76067, HSP27, HSP28, Hsp25, SRP27
• Gene name: heat shock protein family B (small) member 1
• Alternate names: heat shock protein beta-1, 28 kDa heat shock protein, epididymis secretory protein Li 102, estrogen-regulated 24 kDa protein, heat shock 27 kDa protein, heat shock 27kD protein 1, heat shock 27kDa protein 1, stress-responsive protein 27,
• Gene location: 7q11.23 (76302557: 76304300)     Exons: 3     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct
• OMIM: 602195

Protein Summary

• Protein general information: P04792  
  • Name: Heat shock protein beta 1 (HspB1) (28 kDa heat shock protein) (Estrogen regulated 24 kDa protein) (Heat shock 27 kDa protein) (HSP 27) (Stress responsive protein 27) (SRP27)
  • Length: 205  
  • Mass: 22783
  • Tissue specificity: Detected in all tissues tested
• Sequence:

  MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPAAIESPAVAAPAYSR
  ALSRQLSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEITGKHEERQDEHGYISRCFTRKYTLPPGVDP
  TQVSSSLSPEGTLTVEAPMPKLATQSNEITIPVTFESRAQLGGPEAAKSDETAAK

• Structural information:
  • Protein Domains: (76..18-)
    (/note="sHSP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00285"-)
  • Interpro: IPR002068  IPR037876  IPR001436  IPR008978  
  • Prosite: PS01031
  • CDD: cd06475
  • PDB: 2N3J 3Q9P 3Q9Q 4MJH 6DV5 6GJH
  • PDBsum: 2N3J 3Q9P 3Q9Q 4MJH 6DV5 6GJH
  • DIP: 412
  • STRING: ENSP00000248553
• Other Databases: GeneCards:  HSPB1  Malacards:  HSPB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000502	proteasome complex	ISS	cellular component
GO:0001895	retina homeostasis	IEP	biological process
GO:0005080	protein kinase C binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0006446	regulation of translational initiation	TAS	biological process
GO:0006469	negative regulation of protein kinase activity	ISS	biological process
GO:0006928	movement of cell or subcellular component	TAS	biological process
GO:0006986	response to unfolded protein	NAS	biological process
GO:0008426	protein kinase C inhibitor activity	ISS	molecular function
GO:0009615	response to virus	IEP	biological process
GO:0010506	regulation of autophagy	NAS	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0030018	Z disc	IEA	cellular component
GO:0032731	positive regulation of interleukin-1 beta production	ISS	biological process
GO:0035556	intracellular signal transduction	IMP	biological process
GO:0035924	cellular response to vascular endothelial growth factor stimulus	IMP	biological process
GO:0038033	positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway	IMP	biological process
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	ISS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	ISS	biological process
GO:0043130	ubiquitin binding	ISS	molecular function
GO:0043488	regulation of mRNA stability	TAS	biological process
GO:0043536	positive regulation of blood vessel endothelial cell migration	IMP	biological process
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070527	platelet aggregation	IMP	biological process
GO:0071901	negative regulation of protein serine/threonine kinase activity	IEA	biological process
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	ISS	biological process
GO:2001028	positive regulation of endothelial cell chemotaxis	IMP	biological process
GO:0000502	proteasome complex	IEA	cellular component
GO:0000502	proteasome complex	ISS	cellular component
GO:0001895	retina homeostasis	IEP	biological process
GO:0005080	protein kinase C binding	IEA	molecular function
GO:0005080	protein kinase C binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005622	intracellular	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0006446	regulation of translational initiation	TAS	biological process
GO:0006469	negative regulation of protein kinase activity	IEA	biological process
GO:0006469	negative regulation of protein kinase activity	ISS	biological process
GO:0006928	movement of cell or subcellular component	TAS	biological process
GO:0006986	response to unfolded protein	TAS	biological process
GO:0006986	response to unfolded protein	NAS	biological process
GO:0008426	protein kinase C inhibitor activity	IEA	molecular function
GO:0008426	protein kinase C inhibitor activity	ISS	molecular function
GO:0009615	response to virus	IEP	biological process
GO:0010506	regulation of autophagy	NAS	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0030018	Z disc	IEA	cellular component
GO:0032731	positive regulation of interleukin-1 beta production	IEA	biological process
GO:0032731	positive regulation of interleukin-1 beta production	ISS	biological process
GO:0035556	intracellular signal transduction	IMP	biological process
GO:0035924	cellular response to vascular endothelial growth factor stimulus	IMP	biological process
GO:0038033	positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway	IMP	biological process
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	IEA	biological process
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	ISS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	ISS	biological process
GO:0043130	ubiquitin binding	IEA	molecular function
GO:0043130	ubiquitin binding	ISS	molecular function
GO:0043292	contractile fiber	IEA	cellular component
GO:0043488	regulation of mRNA stability	TAS	biological process
GO:0043536	positive regulation of blood vessel endothelial cell migration	IMP	biological process
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070527	platelet aggregation	IMP	biological process
GO:0071901	negative regulation of protein serine/threonine kinase activity	IEA	biological process
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IEA	biological process
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	ISS	biological process
GO:2001028	positive regulation of endothelial cell chemotaxis	IMP	biological process
GO:2001234	negative regulation of apoptotic signaling pathway	IEA	biological process
GO:0000502	proteasome complex	ISS	cellular component
GO:0001895	retina homeostasis	IEP	biological process
GO:0005080	protein kinase C binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0006446	regulation of translational initiation	TAS	biological process
GO:0006469	negative regulation of protein kinase activity	ISS	biological process
GO:0006928	movement of cell or subcellular component	TAS	biological process
GO:0006986	response to unfolded protein	TAS	biological process
GO:0006986	response to unfolded protein	NAS	biological process
GO:0008426	protein kinase C inhibitor activity	ISS	molecular function
GO:0009615	response to virus	IEP	biological process
GO:0010506	regulation of autophagy	NAS	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0032731	positive regulation of interleukin-1 beta production	ISS	biological process
GO:0035556	intracellular signal transduction	IMP	biological process
GO:0035924	cellular response to vascular endothelial growth factor stimulus	IMP	biological process
GO:0038033	positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway	IMP	biological process
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	ISS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	ISS	biological process
GO:0043130	ubiquitin binding	ISS	molecular function
GO:0043488	regulation of mRNA stability	TAS	biological process
GO:0043536	positive regulation of blood vessel endothelial cell migration	IMP	biological process
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070527	platelet aggregation	IMP	biological process
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	ISS	biological process
GO:2001028	positive regulation of endothelial cell chemotaxis	IMP	biological process
GO:0061629	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	molecular function
GO:0010506	regulation of autophagy	NAS	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0061077	chaperone-mediated protein folding	IMP	biological process
GO:0099641	anterograde axonal protein transport	IMP	biological process
GO:0061077	chaperone-mediated protein folding	IMP	biological process
GO:0006986	response to unfolded protein	NAS	biological process
GO:0042802	identical protein binding	IMP	molecular function
GO:0044183	protein folding chaperone	IMP	molecular function
GO:0001932	regulation of protein phosphorylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	IMP	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0006446	regulation of translational initiation	TAS	biological process
GO:0006986	response to unfolded protein	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043488	regulation of mRNA stability	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	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
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2001234	negative regulation of apoptotic signaling pathway	IEA	biological process
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IEA	biological process
GO:0043292	contractile fiber	IEA	cellular component
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	IEA	biological process
GO:0032731	positive regulation of interleukin-1 beta production	IEA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0006469	negative regulation of protein kinase activity	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0008426	protein kinase C inhibitor activity	IEA	molecular function
GO:0005080	protein kinase C binding	IEA	molecular function
GO:0005080	protein kinase C binding	ISS	molecular function
GO:0008426	protein kinase C inhibitor activity	ISS	molecular function
GO:0043130	ubiquitin binding	ISS	molecular function
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	ISS	biological process
GO:0043536	positive regulation of blood vessel endothelial cell migration	IMP	biological process
GO:2001028	positive regulation of endothelial cell chemotaxis	IMP	biological process
GO:0000502	proteasome complex	ISS	cellular component
GO:0006469	negative regulation of protein kinase activity	ISS	biological process
GO:0032731	positive regulation of interleukin-1 beta production	ISS	biological process
GO:0035556	intracellular signal transduction	IMP	biological process
GO:0035924	cellular response to vascular endothelial growth factor stimulus	IMP	biological process
GO:0038033	positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway	IMP	biological process
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	ISS	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0071901	negative regulation of protein serine/threonine kinase activity	IEA	biological process
GO:0071901	negative regulation of protein serine/threonine kinase activity	IEA	biological process
GO:0001895	retina homeostasis	HEP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0009615	response to virus	IEP	biological process
GO:0070527	platelet aggregation	HMP	biological process
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa05146	Amoebiasis
hsa04370	VEGF signaling pathway
P06959	CCKR signaling map
hsa05146	Amoebiasis

Diseases

Associated diseases	References
Cancer (lung)	GAD: 20231684
Distal hereditary motor neuropathies	KEGG: H00856
Neuropathy	OMIM: 602195
Multiple sclerosis	GAD: 21654844
Multiple sclerosis	GAD: 21654844
Diabetes	GAD: 20299368
Charcot-Marie-Tooth disease	OMIM: 602195
Gonad development	INFBASE: 15120973
Female infertility	INFBASE: 15120973
Polycystic ovary syndrome (PCOS)	INFBASE: 23382852
Endometriosis	INFBASE: 9207579
Preterm birth risk	INFBASE: 23382852
Semen quality	MIK: 26209830
Semen quality	MIK: 26209830
Male factor infertility	MIK: 18068167
Abnormal spermatogenesis	MIK: 18692580
Azoospermia	MIK: 18068167
Distal hereditary motor neuropathies	KEGG:H00856
Distal hereditary motor neuropathies	KEGG:H00856
Sarcoma	PMID:21833720
focal segmental glomerulosclerosis	PMID:21931298
pancreatic cancer	PMID:21833720
Rheumatoid arthritis	PMID:21417552
Male infertility	MIK: 18692580
Azoospermia	MIK: 18068167
Semen quality	MIK: 26209830
Sperm motility	MIK: 26209830
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18068167	Azoospermia, Male infertility			6 (3 fertile men with normal spermatogenesis, 3 azoospermic patients)	Male infertility	phospholipid hydroperoxide glutathione peroxidase peroxiredoxin 4 (Prx4) heat shock protein beta-1 (HSP27) and cathepsin D (CTSD)
26209830	Semen quality, Sperm motility			37 men provided semen samples for routine analysis	Male infertility	Bad GSK-3 HSP27 JNK/SAPK mTOR p38 MAPK p53PARP Caspase-3 Akt Stat1 and p70 S6 kinase
26209830	Sperm motility			37 men provided semen samples for routine analysis	Male infertility	Bad GSK-3 HSP27 JNK/SAPK mTOR  p38 MAPK p53 PARP Caspase-3
18692580	Abnormal spermatogenesis, Male infertility			30 (10 normal spermatogenesis, 10 maturation arrest, 10 Sertoli cell only syndrome)	Male infertility
18068167	Azoospermia			6 (3 fertile men with normal spermatogenesis, 3 azoospermic patients )	Male infertility
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R