• Gene id: 4088

Gene Summary

• Gene Symbol: SMAD3   Gene   UCSC   Ensembl
• Aliases: HSPC193, HsT17436, JV15-2, LDS1C, LDS3, MADH3
• Gene name: SMAD family member 3
• Alternate names: mothers against decapentaplegic homolog 3, MAD homolog 3, MAD, mothers against decapentaplegic homolog 3, SMA- and MAD-related protein 3, SMAD, mothers against DPP homolog 3, hMAD-3, hSMAD3, mad homolog JV15-2, mad protein homolog, mad3, mothers against DPP homolog,
• Gene location: 15q22.33 (67065601: 67195194)     Exons: 13     NC_000015.10
• Gene summary(Entrez): The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming gr

SNPs

rs3197744

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

NC_000020.11   g.1937841G>T
NC_000020.10   g.1918487G>T
XM_006723545.4   c.*273G>T
XM_005260670.3   c.*273G>T
XM_005260670.1   c.*273G>T
XM_011529173.2   c.*273G>T
NM_080792.2   c.*273G>T
NM_080792.3   c.*273G>T
NM_001330728.1   c.*273G>T
NM_001040022.1   c.*273G>T
NM_0  

Protein Summary

• Protein general information: P84022  
  • Name: Mothers against decapentaplegic homolog 3 (MAD homolog 3) (Mad3) (Mothers against DPP homolog 3) (hMAD 3) (JV15 2) (SMAD family member 3) (SMAD 3) (Smad3) (hSMAD3)
  • Length: 425  
  • Mass: 48081
• Sequence:

  MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRL
  QVSHRKGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEF
  PPLDDYSHSIPENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVT
  YCEPAFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIG
  GEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMS
  FVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS

• Structural information:
  • Protein Domains: (10..13-)
    (/note="MH1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00438-)
    (232..42-)
    (/note="MH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00439"-)
  • Interpro: IPR013790  IPR003619  IPR013019  IPR017855  IPR001132   IPR008984  IPR036578  
  • Prosite: PS51075 PS51076
  • PDB: 1MHD 1MJS 1MK2 1OZJ 1U7F 2LAJ 2LB2 5OD6 5ODG 5XOC
  • PDBsum: 1MHD 1MJS 1MK2 1OZJ 1U7F 2LAJ 2LB2 5OD6 5ODG 5XOC
  • DIP: 29720
  • STRING: ENSP00000332973
• Other Databases: GeneCards:  SMAD3  Malacards:  SMAD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005637	nuclear inner membrane	IDA	cellular component
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0071141	SMAD protein complex	IDA	cellular component
GO:0043130	ubiquitin binding	IDA	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000987	cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0019902	phosphatase 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:0070412	R-SMAD binding	IPI	molecular function
GO:0001223	transcription coactivator 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:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:0071345	cellular response to cytokine stimulus	TAS	biological process
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: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:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	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:0005829	cytosol	TAS	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:0005829	cytosol	TAS	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:0005829	cytosol	TAS	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:0005829	cytosol	TAS	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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
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: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:0097296	activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IEA	biological process
GO:0051496	positive regulation of stress fiber assembly	IEA	biological process
GO:0050927	positive regulation of positive chemotaxis	IEA	biological process
GO:0050821	protein stabilization	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0042177	negative regulation of protein catabolic process	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0030501	positive regulation of bone mineralization	IEA	biological process
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0030325	adrenal gland development	IEA	biological process
GO:0023019	signal transduction involved in regulation of gene expression	IEA	biological process
GO:0010694	positive regulation of alkaline phosphatase activity	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0007183	SMAD protein complex assembly	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0070306	lens fiber cell differentiation	IEA	biological process
GO:0060395	SMAD protein signal transduction	IEA	biological process
GO:0060039	pericardium development	IEA	biological process
GO:0050776	regulation of immune response	IEA	biological process
GO:0050678	regulation of epithelial cell proliferation	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0042110	T cell activation	IEA	biological process
GO:0033689	negative regulation of osteoblast proliferation	IEA	biological process
GO:0030878	thyroid gland development	IEA	biological process
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0007492	endoderm development	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0001947	heart looping	IEA	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:1903243	negative regulation of cardiac muscle hypertrophy in response to stress	IEA	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0061767	negative regulation of lung blood pressure	IEA	biological process
GO:0060290	transdifferentiation	IEA	biological process
GO:0051894	positive regulation of focal adhesion assembly	IEA	biological process
GO:0046332	SMAD binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045429	positive regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0032916	positive regulation of transforming growth factor beta3 production	IEA	biological process
GO:0032731	positive regulation of interleukin-1 beta production	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0061045	negative regulation of wound healing	IEA	biological process
GO:0051098	regulation of binding	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0048617	embryonic foregut morphogenesis	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0048340	paraxial mesoderm morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045668	negative regulation of osteoblast differentiation	IEA	biological process
GO:0032332	positive regulation of chondrocyte differentiation	IEA	biological process
GO:0031490	chromatin DNA binding	IEA	molecular function
GO:0016202	regulation of striated muscle tissue development	IEA	biological process
GO:0009880	embryonic pattern specification	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007369	gastrulation	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005518	collagen binding	IEA	molecular function
GO:0002520	immune system development	IEA	biological process
GO:0002076	osteoblast development	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0001707	mesoderm formation	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045599	negative regulation of fat cell differentiation	IDA	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	contributes to
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043425	bHLH transcription factor binding	IPI	molecular function
GO:0070410	co-SMAD binding	IPI	molecular function
GO:0070410	co-SMAD binding	IPI	molecular function
GO:0070410	co-SMAD binding	IPI	molecular function
GO:0070410	co-SMAD binding	IPI	molecular function
GO:0000987	cis-regulatory region sequence-specific DNA binding	IC	molecular function
GO:0017151	DEAD/H-box RNA helicase binding	IPI	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IPI	molecular function
GO:0005160	transforming growth factor beta receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0070412	R-SMAD binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070878	primary miRNA binding	IPI	molecular function
GO:0007183	SMAD protein complex assembly	IDA	biological process
GO:0007183	SMAD protein complex assembly	IDA	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:1901203	positive regulation of extracellular matrix assembly	IDA	biological process
GO:0001666	response to hypoxia	IMP	biological process
GO:0060395	SMAD protein signal transduction	NAS	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0007050	cell cycle arrest	IMP	biological process
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0038092	nodal signaling pathway	IMP	biological process
GO:0042060	wound healing	TAS	biological process
GO:0043235	receptor complex	IMP	cellular component
GO:0045216	cell-cell junction organization	IMP	biological process
GO:0042307	positive regulation of protein import into nucleus	NAS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0071144	heteromeric SMAD protein complex	IDA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0045429	positive regulation of nitric oxide biosynthetic process	IDA	biological process
GO:0051481	negative regulation of cytosolic calcium ion concentration	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0006955	immune response	IMP	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IMP	biological process
GO:0031053	primary miRNA processing	TAS	biological process
GO:0032909	regulation of transforming growth factor beta2 production	IMP	biological process
GO:0032924	activin receptor signaling pathway	IMP	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	NAS	biological process
GO:0045930	negative regulation of mitotic cell cycle	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0097191	extrinsic apoptotic signaling pathway	IMP	biological process
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0071560	cellular response to transforming growth factor beta stimulus	IDA	biological process
GO:0031962	mineralocorticoid receptor binding	IPI	molecular function
GO:0035259	glucocorticoid receptor binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0071141	SMAD protein complex	IDA	cellular component
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:0019901	protein kinase 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

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04144	Endocytosis
hsa05166	Human T-cell leukemia virus 1 infection
hsa04310	Wnt signaling pathway
hsa04390	Hippo signaling pathway
hsa05225	Hepatocellular carcinoma
hsa04371	Apelin signaling pathway
hsa05226	Gastric cancer
hsa04218	Cellular senescence
hsa05161	Hepatitis B
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04110	Cell cycle
hsa04068	FoxO signaling pathway
hsa04659	Th17 cell differentiation
hsa04350	TGF-beta signaling pathway
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa05210	Colorectal cancer
hsa05220	Chronic myeloid leukemia
hsa05212	Pancreatic cancer
hsa04520	Adherens junction
hsa05321	Inflammatory bowel disease

Diseases

Associated diseases	References
Loeys-Dietz syndrome	KEGG:H00800
Loeys-Dietz syndrome	KEGG:H00800
Prostate cancer	PMID:17908958
Endometrial cancer	PMID:12883738
pancreatic cancer	PMID:18772397
Lynch syndrome	PMID:10819637
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq