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

Gene ID: 10220, updated on 1-Jun-2020

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
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
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

Genomic context

See GDF11 in Genome Data Viewer
Location:
12q13.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (55743122..55757264)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56137064..56146665)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BLOC1S1-RDH5 readthrough Neighboring gene uncharacterized LOC105369779 Neighboring gene retinol dehydrogenase 5 Neighboring gene CD63 molecule Neighboring gene SAP domain containing ribonucleoprotein Neighboring gene ORMDL sphingolipid biosynthesis regulator 2 Neighboring gene DnaJ heat shock protein family (Hsp40) member C14 Neighboring gene transmembrane protein 198B (pseudogene) Neighboring gene matrix metallopeptidase 19

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SMAD protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
camera-type eye morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell maturation IEA
Inferred from Electronic Annotation
more info
 
mesoderm development TAS
Traceable Author Statement
more info
PubMed 
metanephros development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
pancreas development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
spinal cord anterior/posterior patterning IEA
Inferred from Electronic Annotation
more info
 
ureteric bud development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
growth/differentiation factor 11
Names
GDF-11
bone morphogenetic protein 11

NCBI Reference Sequences (RefSeq)

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)

  1. NM_005811.5NP_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
    UniProtKB/TrEMBL
    A0A024RB20
    Related
    ENSP00000257868.5, ENST00000257868.10
    Conserved Domains (2) summary
    smart00204
    Location:313407
    TGFB; Transforming growth factor-beta (TGF-beta) family
    pfam00688
    Location:61285
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    55743122..55757264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719194.3XP_006719257.1  growth/differentiation factor 11 isoform X1

    See identical proteins and their annotated locations for XP_006719257.1

    UniProtKB/Swiss-Prot
    O95390
    UniProtKB/TrEMBL
    A0A024RB20
    Related
    ENSP00000448390.1, ENST00000546799.1
    Conserved Domains (2) summary
    smart00204
    Location:313407
    TGFB; Transforming growth factor-beta (TGF-beta) family
    pfam00688
    Location:61285
    TGFb_propeptide; TGF-beta propeptide
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