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 homo... See more...

Aliases for GDF7 Gene

Aliases for GDF7 Gene

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

External Ids for GDF7 Gene

Previous GeneCards Identifiers for GDF7 Gene

  • GC02U990098
  • GC02P020834
  • GC02P020851
  • GC02P020850
  • GC02P020788
  • GC02P020623

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. Diseases associated with GDF7 include Barrett Esophagus and Microphthalmia, Isolated 4. Among its related pathways are Hippo signaling pathway and PEDF Induced Signaling. Gene Ontology (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 Summary for GDF7 Gene

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

Gene Wiki entry for GDF7 Gene

Additional gene information for GDF7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GDF7 Gene

Genomics for GDF7 Gene

GeneHancer (GH) Regulatory Elements for GDF7 Gene

Promoters and enhancers for GDF7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J020669 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 505.7 +0.4 436 3 POLR2G ZNF10 ZIC2 GABPA ZBTB26 ZBTB7A EZH2 ZNF341 PCBP1 KLF9 GDF7 lnc-GDF7-1
GH02J020592 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.9 -69.5 -69462 9.8 EP300 FOXK2 CTCF NRF1 TCF12 POLR2G USF1 SP1 NCOR1 FOS PUM2 TTC32 RHOB GDF7 ENSG00000228950 LAPTM4A LINC00954 APOB HS1BP3 HS1BP3-IT1
GH02J020566 Enhancer 2 VISTA FANTOM5 ENCODE CraniofacialAtlas dbSUPER 13.2 -92.6 -92557 14.5 EP300 FOXK2 ZBTB40 TCF12 POLR2G SP1 NCOR1 JUND FOS TEAD4 RHOB GDF7 LAPTM4A ENSG00000228950 LINC00954 PUM2 RNU6-961P HS1BP3-IT1 HS1BP3 ENSG00000269976
GH02J020442 Promoter/Enhancer 2.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 -218.6 -218634 10.3 EP300 ZNF217 CTCF ZSCAN5C NRF1 TCF12 POLR2G SP1 NCOR1 PHF8 RHOB lnc-PUM2-1 PUM2 LAPTM4A LINC00954 ENSG00000228950 TTC32 GDF7
GH02J020633 Enhancer 1.3 ENCODE CraniofacialAtlas dbSUPER 11.4 -31.0 -31019 5 CTCF ZFX REST ZBTB25 TGIF2 RAD21 SKI TEAD1 ZBTB26 ZKSCAN8 ENSG00000228950 RHOB GDF7 PUM2 HS1BP3 lnc-LDAH-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GDF7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GDF7

Top Transcription factor binding sites by QIAGEN in the GDF7 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • ARP-1
  • MyoD
  • Spz1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for GDF7 Gene

Genomic Locations for GDF7 Gene
chr2:20,666,664-20,679,243
(GRCh38/hg38)
Size:
12,580 bases
Orientation:
Plus strand
chr2:20,866,424-20,873,418
(GRCh37/hg19)
Size:
6,995 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:

No data available for DME Specific Peptides for GDF7 Gene

Domains & Families for GDF7 Gene

Gene Families for GDF7 Gene

Protein Domains for GDF7 Gene

Blocks:
  • Transforming growth factor beta (TGFb)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GDF7 Gene

GenScript: Design optimal peptide antigens:
  • Growth/differentiation factor 7 (GDF7_HUMAN)
  • Growth differentiation factor 7 (Q75RY1_HUMAN)

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

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.

Phenotypes From GWAS Catalog for GDF7 Gene

Gene Ontology (GO) - Molecular Function for GDF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA 21873635
GO:0005160 transforming growth factor beta receptor binding IBA 21873635
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

Clone 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 4
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
lysosome 1
peroxisome 0

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 21873635
genes like me logo Genes that share ontologies with GDF7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GDF7 Gene

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

Drugs & Compounds for GDF7 Gene

No Compound Related Data Available

Transcripts for GDF7 Gene

mRNA/cDNA for GDF7 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

Expression for GDF7 Gene

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



Protein tissue co-expression partners for GDF7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GDF7

SOURCE GeneReport for Unigene cluster for GDF7 Gene:

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

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 31 30
  • 99.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GDF7 31 30
  • 85.31 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gdf7 30
  • 80.66 (n)
mouse
(Mus musculus)
Mammalia Gdf7 17 31 30
  • 80.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GDF7 31
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GDF7 31
  • 59 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GDF7 31
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves GDF7 30
  • 64.99 (n)
lizard
(Anolis carolinensis)
Reptilia GDF7 31
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496775 30
  • 56.62 (n)
zebrafish
(Danio rerio)
Actinopterygii gdf7 31 30
  • 54.67 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dpp 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GDF7: view image

Paralogs for GDF7 Gene

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

  • GDF7_HUMAN
genes like me logo Genes that share paralogs with GDF7: view

Variants for GDF7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GDF7 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
708452 Benign: not provided 20,671,018(+) G/A MISSENSE_VARIANT
708453 Benign: not provided 20,671,182(+) G/T SYNONYMOUS_VARIANT
714108 Benign: not provided 20,670,928(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GDF7 Gene

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)

Additional Variant Information for GDF7 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GDF7 Gene

MalaCards: The human disease database

(6) MalaCards diseases for GDF7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
barrett esophagus
  • barrett metaplasia
microphthalmia, isolated 4
  • mcop4
brachydactyly, type a1, c
  • bda1c
shoulder impingement syndrome
  • impingement syndrome of shoulder region
epicondylitis
  • andrel epicondylitis
- elite association - COSMIC cancer census association via MalaCards
Search GDF7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GDF7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GDF7: view

No data available for 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 (Human genetics 2010) 3 41 54
  2. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 41 54
  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 AJ … Crosier PS (Genome research 1999) 2 3 54
  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 KJ … Jessell TM (Genes & development 1998) 2 3 54
  5. Bmp-12 activates tenogenic pathway in human adipose stem cells and affects their immunomodulatory and secretory properties. (PMID: 28214472) Zarychta-Wiśniewska W … Paczek L (BMC cell biology 2017) 3 54

Products for GDF7 Gene

Sources for GDF7 Gene