• Gene id: 6934

Gene Summary

• Gene Symbol: TCF7L2   Gene   UCSC   Ensembl
• Aliases: TCF-4, TCF4
• Gene name: transcription factor 7 like 2
• Alternate names: transcription factor 7-like 2, HMG box transcription factor 4, T-cell factor 4, T-cell-specific transcription factor 4, hTCF-4, transcription factor 7-like 2 (T-cell specific, HMG-box),
• Gene location: 10q25.2-q25.3 (112950219: 113167677)     Exons: 20     NC_000010.11
• Gene summary(Entrez): This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased
• OMIM: 602228

SNPs

rs4506565

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

NC_000010.11   g.112996282A>G
NC_000010.11   g.112996282A>T
NC_000010.10   g.114756041A>G
NC_000010.10   g.114756041A>T
NG_012631.1   g.51033A>G
NG_012631.1   g.51033A>T|SEQ=[A/G/T]|GENE=TCF7L2

rs7903146

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

NC_000010.11   g.112998590C>G
NC_000010.11   g.112998590C>T
NC_000010.10   g.114758349C>G
NC_000010.10   g.114758349C>T
NG_012631.1   g.53341C>G
NG_012631.1   g.53341C>T
NG_054085.1   g.746C>G
NG_054085.1   g.746C>T|SEQ=[C/G/T]|GENE=TCF7L2

rs12243326

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

NC_000010.11   g.113029056T>C
NC_000010.10   g.114788815T>C
NG_012631.1   g.83807T>C|SEQ=[T/C]|GENE=TCF7L2

rs12255372

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

NC_000010.11   g.113049143G>A
NC_000010.11   g.113049143G>T
NC_000010.10   g.114808902G>A
NC_000010.10   g.114808902G>T
NG_012631.1   g.103894G>A
NG_012631.1   g.103894G>T|SEQ=[G/A/T]|GENE=TCF7L2

Protein Summary

• Protein general information: Q9NQB0  
  • Name: Transcription factor 7 like 2 (HMG box transcription factor 4) (T cell specific transcription factor 4) (T cell factor 4) (TCF 4) (hTCF 4)
  • Length: 619  
  • Mass: 67,919
• Sequence:

  MPQLNGGGGDDLGANDELISFKDEGEQEEKSSENSSAERDLADVKSSLVNESETNQNSSSDSEAERRPPPRSESF
  RDKSRESLEEAAKRQDGGLFKGPPYPGYPFIMIPDLTSPYLPNGSLSPTARTLHFQSGSTHYSAYKTIEHQIAVQ
  YLQMKWPLLDVQAGSLQSRQALKDARSPSPAHIVSNKVPVVQHPHHVHPLTPLITYSNEHFTPGNPPPHLPADVD
  PKTGIPRPPHPPDISPYYPLSPGTVGQIPHPLGWLVPQQGQPVYPITTGGFRHPYPTALTVNASMSRFPPHMVPP
  HHTLHTTGIPHPAIVTPTVKQESSQSDVGSLHSSKHQDSKKEEEKKKPHIKKPLNAFMLYMKEMRAKVVAECTLK
  ESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNYGKKKKRKRDKQPGETNEHSECFLNPCL
  SLPPITDLSAPKKCRARFGLDQQNNWCGPCRRKKKCVRYIQGEGSCLSPPSSDGSLLDSPPPSPNLLGSPPRDAK
  SQTEQTQPLSLSLKPDPLAHLSMMPPPPALLLAEATHKASALCPNGALDLPPAALQPAAPSSSIAQPSTSSLHSH
  SSLAGTQPQPLSLVTKSLE

• Structural information:
  • Interpro: IPR027397  IPR013558  IPR009071  IPR036910  IPR024940   IPR028773  
  • Prosite: PS50118
  • PDB: 1JDH 1JPW 2GL7
  • PDBsum: 1JDH 1JPW 2GL7
  • DIP: 36236
  • STRING: ENSP00000444972
• Other Databases: GeneCards:  TCF7L2  Malacards:  TCF7L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0001103	RNA polymerase II repressing transcription factor binding	IPI	molecular function
GO:0001568	blood vessel development	IMP	biological process
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	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:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0007050	cell cycle arrest	IMP	biological process
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS	biological process
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0008013	beta-catenin binding	IDA	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008283	cell proliferation	IMP	biological process
GO:0009749	response to glucose	ISS	biological process
GO:0010909	positive regulation of heparan sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0016605	PML body	IEA	cellular component
GO:0019901	protein kinase binding	IPI	molecular function
GO:0031016	pancreas development	TAS	biological process
GO:0032024	positive regulation of insulin secretion	IDA	biological process
GO:0032024	positive regulation of insulin secretion	IMP	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0032350	regulation of hormone metabolic process	IDA	biological process
GO:0032993	protein-DNA complex	IDA	cellular component
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0042593	glucose homeostasis	IDA	biological process
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IMP	molecular function
GO:0043570	maintenance of DNA repeat elements	IMP	biological process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0044334	canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition	IMP	biological process
GO:0045295	gamma-catenin binding	IPI	molecular function
GO:0045444	fat cell differentiation	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046827	positive regulation of protein export from nucleus	IMP	biological process
GO:0048625	myoblast fate commitment	IDA	biological process
GO:0048660	regulation of smooth muscle cell proliferation	IMP	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0060070	canonical Wnt signaling pathway	IC	biological process
GO:0070016	armadillo repeat domain binding	IPI	molecular function
GO:0070369	beta-catenin-TCF7L2 complex	IDA	cellular component
GO:0070369	beta-catenin-TCF7L2 complex	IDA	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process
GO:2000675	negative regulation of type B pancreatic cell apoptotic process	IDA	biological process
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IDA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0001103	RNA polymerase II repressing transcription factor binding	IPI	molecular function
GO:0001568	blood vessel development	IMP	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	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:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0007050	cell cycle arrest	IMP	biological process
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS	biological process
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0008013	beta-catenin binding	IDA	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008283	cell proliferation	IMP	biological process
GO:0009749	response to glucose	ISS	biological process
GO:0010909	positive regulation of heparan sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0016605	PML body	IEA	cellular component
GO:0019901	protein kinase binding	IPI	molecular function
GO:0031016	pancreas development	TAS	biological process
GO:0032024	positive regulation of insulin secretion	IDA	biological process
GO:0032024	positive regulation of insulin secretion	IMP	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0032350	regulation of hormone metabolic process	IDA	biological process
GO:0032993	protein-DNA complex	IDA	cellular component
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0042593	glucose homeostasis	IDA	biological process
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IMP	molecular function
GO:0043570	maintenance of DNA repeat elements	IMP	biological process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0044334	canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition	IMP	biological process
GO:0045295	gamma-catenin binding	IPI	molecular function
GO:0045444	fat cell differentiation	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046827	positive regulation of protein export from nucleus	IMP	biological process
GO:0048625	myoblast fate commitment	IDA	biological process
GO:0048660	regulation of smooth muscle cell proliferation	IMP	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IC	biological process
GO:0070016	armadillo repeat domain binding	IPI	molecular function
GO:0070369	beta-catenin-TCF7L2 complex	IDA	cellular component
GO:0070369	beta-catenin-TCF7L2 complex	IDA	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process
GO:2000675	negative regulation of type B pancreatic cell apoptotic process	IDA	biological process
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IEA	biological process
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IDA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0001103	RNA polymerase II repressing transcription factor binding	IPI	molecular function
GO:0001568	blood vessel development	IMP	biological process
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	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:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006357	regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0007050	cell cycle arrest	IMP	biological process
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS	biological process
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0008013	beta-catenin binding	IDA	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008283	cell proliferation	IMP	biological process
GO:0009749	response to glucose	ISS	biological process
GO:0010909	positive regulation of heparan sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0031016	pancreas development	TAS	biological process
GO:0032024	positive regulation of insulin secretion	IDA	biological process
GO:0032024	positive regulation of insulin secretion	IMP	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0032350	regulation of hormone metabolic process	IDA	biological process
GO:0032993	protein-DNA complex	IDA	cellular component
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0042593	glucose homeostasis	IDA	biological process
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IMP	molecular function
GO:0043570	maintenance of DNA repeat elements	IMP	biological process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0044334	canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition	IMP	biological process
GO:0045295	gamma-catenin binding	IPI	molecular function
GO:0045444	fat cell differentiation	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046827	positive regulation of protein export from nucleus	IMP	biological process
GO:0048625	myoblast fate commitment	IDA	biological process
GO:0048660	regulation of smooth muscle cell proliferation	IMP	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0060070	canonical Wnt signaling pathway	IC	biological process
GO:0070016	armadillo repeat domain binding	IPI	molecular function
GO:0070369	beta-catenin-TCF7L2 complex	IDA	cellular component
GO:0070369	beta-catenin-TCF7L2 complex	IDA	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process
GO:2000675	negative regulation of type B pancreatic cell apoptotic process	IDA	biological process
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04520	Adherens junction
hsa04916	Melanogenesis
hsa05200	Pathways in cancer
hsa05210	Colorectal cancer
hsa05225	Hepatocellular carcinoma
hsa05226	Gastric cancer
hsa05216	Thyroid cancer
hsa05221	Acute myeloid leukemia
hsa05217	Basal cell carcinoma
hsa05215	Prostate cancer
hsa05213	Endometrial cancer
hsa05224	Breast cancer
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
hsa04934	Cushing syndrome
hsa05165	Human papillomavirus infection

Diseases

Associated diseases	References
Cancer	GAD: 12378619
Cancer (colon)	GAD: 18398040
Cancer (colorectal)	GAD: 18478343
Cancer (ovarian)	GAD: 19732438
Cancer (prostate)	GAD: 19267370
Cancer (breast)	GAD: 17109766
Cardiovascular disease	GAD: 19924244
Hypertension	GAD: 18288125
Atherosclerosis	GAD: 18437354
Crohn's disease	GAD: 19221600
Autoimmune diseases	GAD: 18839133
Hyperlipidemia	GAD: 19141698
Diabetes	GAD: 16855264
Hypercholesterolemia	GAD: 20602615
Fatty liver	GAD: 19141695
Insulin resistance	GAD: 19573884
Metabolic syndrome	GAD: 18853134
Obesity	GAD: 17311858
Hyperglycemia	GAD: 20299486
Diabetes	KEGG: H00409
Alzheimer's disease	GAD: 18780302
Schizophrenia	GAD: 19643578
Kidney diseases	GAD: 18650481
Polycystic ovary syndrome (PCOS)	MIK: 22480428
Calcinosis	GAD: 18706099
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Polycystic ovary syndrome (PCOS)	MIK: 22480428
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22480428	PCOS	TCF7L2 (rs4506565, rs7903146, rs12243326, rs12255372)	Bahrain i	478 (242 women with PCOS, 236 control women)	Femal infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R