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Aliases for GDF7 Gene

Aliases for GDF7 Gene

  • Growth Differentiation Factor 7 2 3 5
  • GDF-7 3 4
  • Growth/Differentiation Factor 7 3
  • BMP12 3

External Ids for GDF7 Gene

Previous GeneCards Identifiers for GDF7 Gene

  • GC02U990098
  • GC02P020834
  • GC02P020851
  • GC02P020850
  • GC02P020788

Summaries for GDF7 Gene

Entrez Gene Summary for GDF7 Gene

  • 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 may play a role in the differentiation of tendon cells and spinal cord interneurons. A mutation in this gene may be associated with increased risk for Barrett's esophagus and esophageal adenocarcinoma. [provided by RefSeq, Sep 2016]

GeneCards Summary for GDF7 Gene

GDF7 (Growth Differentiation Factor 7) is a Protein Coding gene. Among its related pathways are TGF-beta signaling pathway (KEGG) and Hippo signaling pathway. GO annotations related to this gene include protein homodimerization activity and growth factor activity. An important paralog of this gene is GDF6.

UniProtKB/Swiss-Prot for GDF7 Gene

  • May play an active role in the motor area of the primate neocortex.

Gene Wiki entry for GDF7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDF7 Gene

Genomics for GDF7 Gene

Regulatory Elements for GDF7 Gene

Enhancers for GDF7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G020566 2.5 VISTA FANTOM5 Ensembl ENCODE dbSUPER 13.2 -92.6 -92557 14.5 MLX ZFP64 DMAP1 SLC30A9 NFYC TBX21 PPARGC1A MEF2D SSRP1 GLIS1 RHOB GDF7 ENSG00000228950 RNU6-961P HS1BP3-IT1 HS1BP3 ENSG00000269976 GC02P020545
GH02G020592 2 FANTOM5 Ensembl ENCODE dbSUPER 12.9 -70.1 -70101 8.5 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF766 RHOB GDF7 ENSG00000228950 APOB HS1BP3 HS1BP3-IT1 RPS25P3
GH02G020633 1.5 Ensembl ENCODE dbSUPER 11.4 -31.0 -31020 5.0 HDGF PKNOX1 ZFP64 ARID4B SIN3A ZNF48 YY1 ELK1 ZNF143 SP5 ENSG00000228950 RHOB GDF7 PUM2 HS1BP3 GC02M020612
GH02G020581 1.6 Ensembl ENCODE dbSUPER 10.6 -82.4 -82377 5.2 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 SLC30A9 CBX5 GDF7 ENSG00000269976 GC02P020545
GH02G020446 1.4 ENCODE dbSUPER 10.5 -217.0 -216975 7.0 HDGF PKNOX1 FOXA2 CREB3L1 ARNT MLX AGO1 ZFP64 ARID4B SIN3A ENSG00000228950 GDF7 RHOB
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GDF7 on UCSC Golden Path with GeneCards custom track

Promoters for GDF7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000113855 636 601 CTCF KLF1 SAP130 FUS SUZ12 ZIC2 ZNF48 ZFHX2 GLIS2 EGR1

Genomic Location for GDF7 Gene

Chromosome:
2
Start:
20,666,664 bp from pter
End:
20,679,245 bp from pter
Size:
12,582 bases
Orientation:
Plus strand

Genomic View for GDF7 Gene

Genes around GDF7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GDF7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GDF7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDF7 Gene

Proteins for GDF7 Gene

  • Protein details for GDF7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z4P5-GDF7_HUMAN
    Recommended name:
    Growth/differentiation factor 7
    Protein Accession:
    Q7Z4P5

    Protein attributes for GDF7 Gene

    Size:
    450 amino acids
    Molecular mass:
    46950 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.

neXtProt entry for GDF7 Gene

Post-translational modifications for GDF7 Gene

  • Glycosylation at Asn83
  • Modification sites at PhosphoSitePlus

Other Protein References for GDF7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for GDF7

No data available for DME Specific Peptides for GDF7 Gene

Domains & Families for GDF7 Gene

Suggested Antigen Peptide Sequences for GDF7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z4P5

UniProtKB/Swiss-Prot:

GDF7_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with GDF7: view

No data available for Gene Families for GDF7 Gene

Function for GDF7 Gene

Molecular function for GDF7 Gene

UniProtKB/Swiss-Prot Function:
May play an active role in the motor area of the primate neocortex.

Gene Ontology (GO) - Molecular Function for GDF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0005515 protein binding IPI 16049014
GO:0008083 growth factor activity IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with GDF7: view
genes like me logo Genes that share phenotypes with GDF7: view

Animal Models for GDF7 Gene

MGI Knock Outs for GDF7:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GDF7 Gene

Localization for GDF7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDF7 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GDF7 gene
Compartment Confidence
extracellular 5
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GDF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA,IEA --
genes like me logo Genes that share ontologies with GDF7: view

Pathways & Interactions for GDF7 Gene

genes like me logo Genes that share pathways with GDF7: view

Pathways by source for GDF7 Gene

Gene Ontology (GO) - Biological Process for GDF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007411 axon guidance IEA --
GO:0010628 positive regulation of gene expression IEA --
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IDA 16049014
GO:0021509 roof plate formation IEA --
GO:0021527 spinal cord association neuron differentiation IEA --
genes like me logo Genes that share ontologies with GDF7: view

No data available for SIGNOR curated interactions for GDF7 Gene

Transcripts for GDF7 Gene

mRNA/cDNA for GDF7 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GDF7 Gene

Growth differentiation factor 7:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GDF7 Gene

No ASD Table

Relevant External Links for GDF7 Gene

GeneLoc Exon Structure for
GDF7
ECgene alternative splicing isoforms for
GDF7

Expression for GDF7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GDF7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GDF7 Gene

This gene is overexpressed in Artery - Aorta (x6.7), Cervix - Ectocervix (x5.6), Liver (x5.4), and Vagina (x4.0).

Protein differential expression in normal tissues from HIPED for GDF7 Gene

This gene is overexpressed in Lung (36.7) and Plasma (32.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GDF7 Gene



Protein tissue co-expression partners for GDF7 Gene

NURSA nuclear receptor signaling pathways regulating expression of GDF7 Gene:

GDF7

SOURCE GeneReport for Unigene cluster for GDF7 Gene:

Hs.447688
genes like me logo Genes that share expression patterns with GDF7: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GDF7 Gene

Orthologs for GDF7 Gene

This gene was present in the common ancestor of animals.

Orthologs for GDF7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GDF7 34 35
  • 99.3 (n)
cow
(Bos Taurus)
Mammalia GDF7 34 35
  • 85.31 (n)
rat
(Rattus norvegicus)
Mammalia Gdf7 34
  • 80.66 (n)
mouse
(Mus musculus)
Mammalia Gdf7 34 16 35
  • 80.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GDF7 35
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GDF7 35
  • 59 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GDF7 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves GDF7 34
  • 64.99 (n)
lizard
(Anolis carolinensis)
Reptilia GDF7 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496775 34
  • 56.62 (n)
zebrafish
(Danio rerio)
Actinopterygii gdf7 34 35
  • 54.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta dpp 35
  • 15 (a)
OneToMany
Species where no ortholog for GDF7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GDF7 Gene

ENSEMBL:
Gene Tree for GDF7 (if available)
TreeFam:
Gene Tree for GDF7 (if available)

Paralogs for GDF7 Gene

Paralogs for GDF7 Gene

(3) SIMAP similar genes for GDF7 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GDF7: view

Variants for GDF7 Gene

Sequence variations from dbSNP and Humsavar for GDF7 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000113006 -- 20,668,128(+) AGAGG(C/T)AGGTA intron-variant
rs1000163727 -- 20,667,839(+) CCAGT(C/T)CCAGA intron-variant
rs1000283478 -- 20,668,643(+) AGCCA(C/T)TGACA intron-variant
rs1000335571 -- 20,668,920(+) GGGTC(C/T)CAGGC intron-variant
rs1000502077 -- 20,666,182(+) CTGCC(G/T)GGCGT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GDF7 Gene

Variant ID Type Subtype PubMed ID
nsv1071981 CNV deletion 25765185
nsv1118854 CNV deletion 24896259
nsv508828 CNV insertion 20534489
nsv527901 CNV loss 19592680

Variation tolerance for GDF7 Gene

Gene Damage Index Score: 4.22; 62.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GDF7 Gene

Human Gene Mutation Database (HGMD)
GDF7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GDF7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDF7 Gene

Disorders for GDF7 Gene

Relevant External Links for GDF7

Genetic Association Database (GAD)
GDF7
Human Genome Epidemiology (HuGE) Navigator
GDF7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GDF7

No disorders were found for GDF7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GDF7 Gene

Publications for GDF7 Gene

  1. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M. … Tokunaga K. (Hum. Genet. 2010) 3 46 64
  2. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64
  3. Isolation of zebrafish gdf7 and comparative genetic mapping of genes belonging to the growth/differentiation factor 5, 6, 7 subgroup of the TGF-beta superfamily. (PMID: 10022976) Davidson A.J. … Crosier P.S. (Genome Res. 1999) 2 3 64
  4. Neuronal patterning by BMPs: a requirement for GDF7 in the generation of a discrete class of commissural interneurons in the mouse spinal cord. (PMID: 9808626) Lee K.J. … Jessell T.M. (Genes Dev. 1998) 2 3 64
  5. Effect of adipose-derived stromal cells and BMP12 on intrasynovial tendon repair: A biomechanical, biochemical, and proteomics study. (PMID: 26445383) Gelberman R.H. … Thomopoulos S. (J. Orthop. Res. 2016) 3 64

Products for GDF7 Gene

Sources for GDF7 Gene

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