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

Summary

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Official Symbol: GDF15provided by HGNC
Official Full Name: growth differentiation factor 15provided by HGNC
Primary source: HGNC:30142
See related: Ensembl:ENSG00000130513; HPRD:05608; MIM:605312
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PDF; MIC1; PLAB; MIC-1; NAG-1; PTGFB; GDF-15
Summary: Bone morphogenetic proteins (e.g., BMP9; MIM 605120) are members of the transforming growth factor-beta (see TGFB1; MIM 190180) superfamily and regulate tissue differentiation and maintenance. They are synthesized as precursor molecules that are processed at a dibasic cleavage site to release C-terminal domains containing a characteristic motif of 7 conserved cysteines in the mature protein.[supplied by OMIM, Oct 2009]

Genomic context

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Location :: 19p13.11

Sequence :: Chromosome: 19; NC_000019.9 (18496968..18499986)

See GDF15 in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

growth-differentiation factor-15 is a new player in histamine-induced melanogenesis.
Title: Histamine receptor 2-mediated growth-differentiation factor-15 expression is involved in histamine-induced melanogenesis.
GDF15 impairs aortic contractile and relaxing function through an endothelium-dependent mechanism involving altered caveolar endothelial NO synthase signaling.
Title: Growth differentiation factor 15 impairs aortic contractile and relaxing function through altered caveolar signaling of the endothelium.
Data identified GDF-15 as a clinically valuable marker for predicting transition in albuminuria stage in T2DM beyond conventional risk markers. These findings were confirmed in nondiabetic HT subjects.
Title: Growth-differentiation factor 15 predicts worsening of albuminuria in patients with type 2 diabetes.
Cross-sectional data on a hospital-based sample indicate that plasma GDF-15 levels are associated with left ventricular hypertrophy in hypertensive patients.
Title: The association of growth differentiation factor-15 with left ventricular hypertrophy in hypertensive patients.
the expression of GDF15 is upregulated by IL-6 in prostate carcinoma cells
Title: Growth differentiation factor-15 upregulates interleukin-6 to promote tumorigenesis of prostate carcinoma PC-3 cells.
The GDF15/MIC-1 gene polymorphism is associated with rheumatoid arthritis and suggests a common etiology for that disease and atherothrombotic manifestations.
Title: Polymorphisms of the genes encoding CD40 and growth differentiation factor 15 and in the 9p21.3 region in patients with rheumatoid arthritis and cardiovascular disease.
GDF-15 may play a role in the development of cutaneous and pulmonary fibrosis in systemic sclerosis.
Title: Clinical significance of serum growth differentiation factor-15 levels in systemic sclerosis: association with disease severity.
This highlights a novel role of GDF15 in regulating airway mucosal immunity (e.g. mucin) in cigarette smoke-exposed lungs.
Title: Cigarette smoke induces growth differentiation factor 15 production in human lung epithelial cells: implication in mucin over-expression.
Growth differentiation factor 15 has an anti-apoptotic effect in oral squamous cell carcinoma cell lines, with significant elevated serum GDF 15 levels having a prognostic value in oral squamous cell carcinoma.
Title: GDF 15 as an anti-apoptotic, diagnostic and prognostic marker in oral squamous cell carcinoma.
DEC1 controls the response of p53-dependent cell survival vs. cell death to a stress signal through MIC-1
Title: Differentiated embryo-chondrocyte expressed gene 1 regulates p53-dependent cell survival versus cell death through macrophage inhibitory cytokine-1.

Submit: New GeneRIF Correction See all (133)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q99988	Q99988	GDF15	HPRD	PubMed
BioGRID:114895	BioGRID:114895	GDF15	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114895	BioGRID:107819	MAPK14	BioGRID	PubMed	Two-hybrid
BioGRID:114895	BioGRID:110353	MDFI	BioGRID	PubMed	Two-hybrid
BioGRID:114895	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
Direct p53 effectors, organism-specific biosystem
Direct p53 effectors

General gene information

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Markers

PMC26624P1 (e-PCR)
- UniSTS:272341

RH68131 (e-PCR)
- UniSTS:23260

Homology

Homologs of the GDF15 gene: The GDF15 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
cytokine activity	IEA Inferred from Electronic Annotation more info
growth factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell-cell signaling	TAS Traceable Author Statement more info	PubMed
signal transduction	TAS Traceable Author Statement more info	PubMed
transforming growth factor beta receptor signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
extracellular region	TAS Traceable Author Statement more info	PubMed
extracellular space	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: growth/differentiation factor 15

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

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_004864.2 → NP_004855.2 growth/differentiation factor 15 precursor

Status: VALIDATED

Source sequence(s)

AB000584, BC008962

Consensus CDS

CCDS12376.1

UniProtKB/Swiss-Prot

Q99988

Related

ENSP00000252809, ENST00000252809

Conserved Domains (1) summary

smart00204
Location:211 – 308
Blast Score: 311

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p10 Primary Assembly

Range

18496968..18499986

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1

Range

18062378..18063268

Download

GenBank, FASTA, Sequence Viewer (Graphics)
NW_001841750.1

Range

1688..1996

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018930.1 Alternate CHM1_1.0

Range

18428836..18431857

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01051260.1 (513..1403)	None
genomic	ABBA01158935.1 (1688..1996)	None
genomic	AC008397.7 (155478..158479)	None
genomic	AF008303.1	AAC39537.1
genomic	AMYH01009591.1 (97048..100069)	None
genomic	CH471106.1	EAW84694.1
mRNA	AB000584.1	BAA19151.1
mRNA	AF003934.1	AAC24456.1
mRNA	AF019770.1	AAB88673.1
mRNA	AF173860.1	AAF89834.1
mRNA	AK225431.1	None
mRNA	AK291530.1	BAF84219.1
mRNA	BC000529.2	AAH00529.1
mRNA	BC008962.2	AAH08962.1
mRNA	BT019465.1	AAV38272.1
mRNA	U51731.1	None
mRNA	U88323.1	AAB88913.1