GDF11 growth differentiation factor 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GDF11provided by HGNC
Official Full Name: growth differentiation factor 11provided by HGNC
Primary source: HGNC:HGNC:4216
See related: Ensembl:ENSG00000135414 MIM:603936; AllianceGenome:HGNC:4216
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: VHO; BMP11; BMP-11
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. This protein plays a role in the development of the nervous and other organ systems, and may regulate aging. [provided by RefSeq, Aug 2016]
Expression: Ubiquitous expression in brain (RPKM 8.1), endometrium (RPKM 6.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (55743122..55757264)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (55709757..55723906)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (56136906..56151048)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Novel insights into the pleiotropic health effects of growth differentiation factor 11 gained from genome-wide association studies in population biobanks.
Title: Novel insights into the pleiotropic health effects of growth differentiation factor 11 gained from genome-wide association studies in population biobanks.
Growth differentiation factor-11 upregulates matrix metalloproteinase 2 expression by inducing Snail in human extravillous trophoblast cells.
Title: Growth differentiation factor-11 upregulates matrix metalloproteinase 2 expression by inducing Snail in human extravillous trophoblast cells.
Oncogenic miR-106b-5p promotes cisplatin resistance in triple-negative breast cancer by targeting GDF11.
Title: Oncogenic miR-106b-5p promotes cisplatin resistance in triple-negative breast cancer by targeting GDF11.
The regulatory effect of growth differentiation factor 11 on different cells.
Title: The regulatory effect of growth differentiation factor 11 on different cells.
Circulating GDF11 exacerbates myocardial injury in mice and associates with increased infarct size in humans.
Title: Circulating GDF11 exacerbates myocardial injury in mice and associates with increased infarct size in humans.
Mutual regulation between GDF11 and TET2 prevents senescence of mesenchymal stem cells.
Title: Mutual regulation between GDF11 and TET2 prevents senescence of mesenchymal stem cells.
GDF11 as a friend or an enemy in the cancer biology?
Title: GDF11 as a friend or an enemy in the cancer biology?
GDF-11 downregulates placental human chorionic gonadotropin expression by activating SMAD2/3 signaling.
Title: GDF-11 downregulates placental human chorionic gonadotropin expression by activating SMAD2/3 signaling.
The hepatic effects of GDF11 on health and disease.
Title: The hepatic effects of GDF11 on health and disease.
The role of GDF11 during inflammation - An overview.
Title: The role of GDF11 during inflammation - An overview.

Submit: New GeneRIF Correction See all GeneRIFs (75)

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
Vertebral hypersegmentation and orofacial anomalies MedGen: C5436851 OMIM: 619122 GeneReviews: Not available	Compare labs

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

Gdf11 (e-PCR), detects polymorphism
- UniSTS:496653

RH47413 (e-PCR)
- UniSTS:79124

MARC_41381-41054:1084804684:3 (e-PCR)
- UniSTS:471595

WI-16726 (e-PCR)
- UniSTS:59190

RH99137 (e-PCR)
- UniSTS:87392

NoName (e-PCR)
- UniSTS:482149

GDF11_2359 (e-PCR)
- UniSTS:280694

NoName (e-PCR)
- UniSTS:488089

SGC34566 (e-PCR)
- UniSTS:36508

RH78293 (e-PCR)
- UniSTS:37028

A008V16 (e-PCR)
- UniSTS:21494

NoName (e-PCR)
- UniSTS:481791

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in activin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amacrine cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in camera-type eye morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in mesoderm development	TAS Traceable Author Statement more info	PubMed
involved_in metanephros development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of amacrine cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in roof of mouth development	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	TAS Traceable Author Statement more info	PubMed
involved_in spinal cord anterior/posterior patterning	IEA Inferred from Electronic Annotation more info
involved_in type B pancreatic cell maturation	IEA Inferred from Electronic Annotation more info
involved_in ureteric bud development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: growth/differentiation factor 11

Names: GDF-11; bone morphogenetic protein 11

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_005811.5 → NP_005802.1 growth/differentiation factor 11 preproprotein

See identical proteins and their annotated locations for NP_005802.1

Status: REVIEWED

Source sequence(s)

AC073487, AF100907, BU620213

Consensus CDS

CCDS8891.1

UniProtKB/Swiss-Prot

O95390, Q9UID1, Q9UID2

UniProtKB/TrEMBL

H0YI30

Related

ENSP00000257868.5, ENST00000257868.10

Conserved Domains (2) summary

pfam00688
Location:61 → 285

TGFb_propeptide; TGF-beta propeptide

cd19388
Location:301 → 407

TGF_beta_GDF8; transforming growth factor beta (TGF-beta) like domain found in growth/differentiation factor 8 (GDF8) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

55743122..55757264

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006719194.4 → XP_006719257.1 growth/differentiation factor 11 isoform X1

See identical proteins and their annotated locations for XP_006719257.1

UniProtKB/Swiss-Prot

O95390, Q9UID1, Q9UID2

UniProtKB/TrEMBL

H0YI30

Related

ENSP00000448390.1, ENST00000546799.1

Conserved Domains (2) summary

pfam00688
Location:61 → 285

TGFb_propeptide; TGF-beta propeptide

cd19388
Location:301 → 407

TGF_beta_GDF8; transforming growth factor beta (TGF-beta) like domain found in growth/differentiation factor 8 (GDF8) and similar proteins