GDF15 growth differentiation factor 15 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GDF15provided by HGNC
Official Full Name: growth differentiation factor 15provided by HGNC
Primary source: HGNC:HGNC:30142
See related: Ensembl:ENSG00000130513 MIM:605312; AllianceGenome:HGNC:30142
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HG; PDF; MIC1; PLAB; MIC-1; NAG-1; PTGFB; GDF-15
Summary: 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]
Expression: Biased expression in placenta (RPKM 62.0), prostate (RPKM 53.1) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (18386158..18389176)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (18515920..18523324)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (18496968..18499986)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GDF-15 and mtDNA Deletions Are Useful Biomarkers of Mitochondrial Dysfunction in Insulin Resistance and PCOS.
Title: GDF-15 and mtDNA Deletions Are Useful Biomarkers of Mitochondrial Dysfunction in Insulin Resistance and PCOS.
Identification and characterization of human GDF15 knockouts.
Title: Identification and characterization of human GDF15 knockouts.
The implicated role of GDF15 in gastrointestinal cancer.
Title: The implicated role of GDF15 in gastrointestinal cancer.
Secreted GDF15 maintains transcriptional responses during DNA damage-mediated senescence in human beta cells.
Title: Secreted GDF15 maintains transcriptional responses during DNA damage-mediated senescence in human beta cells.
GDF15 induces chemoresistance to oxaliplatin by forming a reciprocal feedback loop with Nrf2 to maintain redox homeostasis in colorectal cancer.
Title: GDF15 induces chemoresistance to oxaliplatin by forming a reciprocal feedback loop with Nrf2 to maintain redox homeostasis in colorectal cancer.
Transcription factor EGR2 alleviates autoimmune uveitis via activation of GDF15 to modulate the retinal microglial phenotype.
Title: Transcription factor EGR2 alleviates autoimmune uveitis via activation of GDF15 to modulate the retinal microglial phenotype.
METTL14-Mediated m6A Modification of TUG1 Represses Ferroptosis in Alzheimer's Disease via Inhibiting GDF15 Ubiquitination.
Title: METTL14-Mediated m6A Modification of TUG1 Represses Ferroptosis in Alzheimer's Disease via Inhibiting GDF15 Ubiquitination.
Growth differentiation factor 15: Emerging role in liver diseases.
Title: Growth differentiation factor 15: Emerging role in liver diseases.
NR2F1 overexpression alleviates trophoblast cell dysfunction by inhibiting GDF15/MAPK axis in preeclampsia.
Title: NR2F1 overexpression alleviates trophoblast cell dysfunction by inhibiting GDF15/MAPK axis in preeclampsia.
Downregulation of PLIN2 in human dermal fibroblasts impairs mitochondrial function in an age-dependent fashion and induces cell senescence via GDF15.
Title: Downregulation of PLIN2 in human dermal fibroblasts impairs mitochondrial function in an age-dependent fashion and induces cell senescence via GDF15.

Submit: New GeneRIF Correction See all GeneRIFs (601)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hyperemesis gravidarum, susceptibility to MedGen: CN376898 OMIM: 620730 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC26624P1 (e-PCR)
- UniSTS:272341

RH68131 (e-PCR)
- UniSTS:23260

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine activity	IDA Inferred from Direct Assay more info	PubMed
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables hormone activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in GDF15-GFRAL signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to chemical stress	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of appetite	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of growth hormone receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of leukocyte migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of multicellular organism growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of fatty acid oxidation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of myoblast fusion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in reduction of food intake in response to dietary excess	IDA Inferred from Direct Assay more info	PubMed
involved_in response to metformin	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: growth/differentiation factor 15

Names: 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; non-steroidal anti-inflammatory drug-activated gene-1; placental TGF-beta; placental bone morphogenetic protein; prostate differentiation factor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_004864.4 → NP_004855.2 growth/differentiation factor 15 preproprotein

See identical proteins and their annotated locations for NP_004855.2

Status: REVIEWED

Source sequence(s)

BC008962, BQ901034

Consensus CDS

CCDS12376.1

UniProtKB/Swiss-Prot

O14629, P78360, Q99988, Q9BWA0, Q9NRT0

Related

ENSP00000252809.3, ENST00000252809.3

Conserved Domains (2) summary

smart00204
Location:211 → 308

TGFB; Transforming growth factor-beta (TGF-beta) family

cl26309
Location:23 → 147

MscS_TM; Mechanosensitive ion channel inner membrane domain 1