Endometriosis Knowledgebase

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Gene id

9518

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

GDF15 Gene UCSC Ensembl

Aliases

GDF-15, MIC-1, MIC1, NAG-1, PDF, PLAB, PTGFB

Gene name

growth differentiation factor 15

Alternate names

growth/differentiation factor 15, NRG-1, NSAID (nonsteroidal anti-inflammatory drug)-activated protein 1, NSAID-activated gene 1 protein, NSAID-regulated gene 1 protein, PTGF-beta, macrophage inhibitory cytokine 1, placental TGF-beta, placental bone morphogenetic,

Gene location

19p13.11 (18386157: 18389175) Exons: 2 NC_000019.10

Gene summary(Entrez)

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The protein is expressed in a broad range of cell types, acts as a pleiotropic cytokine and is involved in the stress response program of cells after cellular injury. Increased protein levels are associated with disease states such as tissue hypoxia, inflammation, acute injury and oxidative stress. [provided by RefSeq, Aug 2016]

OMIM

605312

Protein Summary

Protein general information

Q99988

Name: Growth/differentiation factor 15 (GDF 15) (Macrophage inhibitory cytokine 1) (MIC 1) (NSAID activated gene 1 protein) (NAG 1) (NSAID regulated gene 1 protein) (NRG 1) (Placental TGF beta) (Placental bone morphogenetic protein) (Prostate differentiation fa

Length: 308 Mass: 34,140

Tissue specificity: Highly expressed in placenta, with lower levels in prostate and colon and some expression in kidney.

Sequence

MPGQELRTVNGSQMLLVLLVLSWLPHGGALSLAEASRASFPGPSELHSEDSRFRELRKRYEDLLTRLRANQSWED
SNTDLVPAPAVRILTPEVRLGSGGHLHLRISRAALPEGLPEASRLHRALFRLSPTASRSWDVTRPLRRQLSLARP
QAPALHLRLSPPPSQSDQLLAESSSARPQLELHLRPQAARGRRRARARNGDHCPLGPGRCCRLHTVRASLEDLGW
ADWVLSPREVQVTMCIGACPSQFRAANMHAQIKTSLHRLKPDTVPAPCCVPASYNPMVLIQKTDTGVSLQTYDDL
LAKDCHCI

Structural information

Interpro:	IPR029034 IPR001839 IPR015615
Prosite:	PS51362
Pfam:	PF00019
STRING:	ENSP00000252809;

Other Databases

GeneCards: GDF15; Malacards: GDF15

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005125	cytokine activity	IEA	molecular_function
GO:0005160	transforming growth facto r beta receptor binding	IBA	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IBA	cellular_component
GO:0007165	signal transduction	TAS	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	TAS	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IBA	biological_process
GO:0042981	regulation of apoptotic p rocess	IBA	biological_process
GO:0043408	regulation of MAPK cascad e	IBA	biological_process
GO:0048468	cell development	IBA	biological_process
GO:0060395	SMAD protein signal trans duction	IBA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1901741	positive regulation of my oblast fusion	IEA	biological_process
GO:0005125	cytokine activity	IEA	molecular_function
GO:0005125	cytokine activity	TAS	molecular_function
GO:0005160	transforming growth facto r beta receptor binding	IBA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IBA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0007165	signal transduction	TAS	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	TAS	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008083	growth factor activity	IEA	molecular_function
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IBA	biological_process
GO:0042981	regulation of apoptotic p rocess	IBA	biological_process
GO:0043408	regulation of MAPK cascad e	IBA	biological_process
GO:0048468	cell development	IBA	biological_process
GO:0060395	SMAD protein signal trans duction	IBA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1901741	positive regulation of my oblast fusion	IEA	biological_process
GO:0005125	cytokine activity	TAS	molecular_function
GO:0005160	transforming growth facto r beta receptor binding	IBA	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IBA	cellular_component
GO:0007165	signal transduction	TAS	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	TAS	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IBA	biological_process
GO:0042981	regulation of apoptotic p rocess	IBA	biological_process
GO:0043408	regulation of MAPK cascad e	IBA	biological_process
GO:0048468	cell development	IBA	biological_process
GO:0060395	SMAD protein signal trans duction	IBA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 19141999
Cancer	PMID: 19505919
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Endometrial cancer	PMID: 21616994
Endometriosis	PMID: 26148093
Hypertension	PMID: 19505289
Polycystic ovary syndrome (PCOS)	PMID: 24736483
Endometriosis	INFBASE20937742

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
20937742	Endometrio sis			80 (40 patients with endometri osis, 40 patien ts without endo metriosis)			Show abstract