Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TGFB1 Gene

Aliases for TGFB1 Gene

  • Transforming Growth Factor Beta 1 2 3 5
  • Prepro-Transforming Growth Factor Beta-1 2 3
  • TGF-Beta-1 3 4
  • TGFB 3 4
  • Transforming Growth Factor, Beta 1 2
  • Transforming Growth Factor Beta-1 3
  • Camurati-Engelmann Disease 2
  • Latency-Associated Peptide 3
  • TGFbeta 3
  • DPD1 3
  • LAP 3
  • CED 3

External Ids for TGFB1 Gene

Previous HGNC Symbols for TGFB1 Gene

  • TGFB
  • DPD1

Previous GeneCards Identifiers for TGFB1 Gene

  • GC19M042475
  • GC19M042227
  • GC19M046484
  • GC19M046528
  • GC19M041837
  • GC19M038268

Summaries for TGFB1 Gene

Entrez Gene Summary for TGFB1 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 a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]

GeneCards Summary for TGFB1 Gene

TGFB1 (Transforming Growth Factor Beta 1) is a Protein Coding gene. Diseases associated with TGFB1 include Camurati-Engelmann Disease and Cystic Fibrosis. Among its related pathways are GPCR Pathway and PEDF Induced Signaling. GO annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is TGFB3.

UniProtKB/Swiss-Prot for TGFB1 Gene

  • Multifunctional protein that controls proliferation, differentiation and other functions in many cell types. Many cells synthesize TGFB1 and have specific receptors for it. It positively and negatively regulates many other growth factors. It plays an important role in bone remodeling as it is a potent stimulator of osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts (By similarity). Stimulates sustained production of collagen through the activation of CREB3L1 by regulated intramembrane proteolysis (RIP) (PubMed:25310401). Can promote either T-helper 17 cells (Th17) or regulatory T-cells (Treg) lineage differentiation in a concentration-dependent manner. At high concentrations, leads to FOXP3-mediated suppression of RORC and down-regulation of IL-17 expression, favoring Treg cell development. At low concentrations in concert with IL-6 and IL-21, leads to expression of the IL-17 and IL-23 receptors, favoring differentiation to Th17 cells. Mediates SMAD2/3 activation by inducing its phosphorylation and subsequent translocation to the nucleus (PubMed:25893292). Can induce epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types (PubMed:25893292).

Gene Wiki entry for TGFB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGFB1 Gene

Genomics for TGFB1 Gene

Regulatory Elements for TGFB1 Gene

Enhancers for TGFB1 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
GH19G041294 2.1 FANTOM5 Ensembl ENCODE dbSUPER 30.5 +50.6 50637 16.8 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF416 ZNF143 SNRPA ZNF526 ENSG00000269843 ZNF574 TGFB1 TMEM91 ITPKC HNRNPUL1 CCDC97 B9D2
GH19G041321 2 FANTOM5 Ensembl ENCODE dbSUPER 17.7 +28.6 28623 8.4 HDGF PKNOX1 FOXA2 ARNT AGO1 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 TGFB1 CIC NUMBL COQ8B SERTAD1 BLVRB HNRNPUL1 B9D2 CEACAM4 CCDC97
GH19G041406 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.3 -54.8 -54807 4.3 HDGF FOXA2 AGO1 GLI4 ZNF48 ZBTB7B GLIS2 FOS ZNF202 YY2 TMEM91 NUMBL ATP5SL MEGF8 EXOSC5 TGFB1 GRIK5 B9D2 ERICH4 CCDC97
GH19G041430 1.7 VISTA ENCODE dbSUPER 12.3 -77.9 -77869 2.4 HDGF ATF1 ARNT ZNF133 GLI4 YY1 TCF12 GLIS2 GATA2 MCM3 EXOSC5 SNRPA ENSG00000269843 ZNF526 B9D2 TGFB1 TMEM91 BCKDHA CCDC97 ITPKC
GH19G041261 1.8 FANTOM5 ENCODE dbSUPER 10 +89.1 89084 7.3 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 ENSG00000205041 ZNF526 NUMBL SNRPA ENSG00000269843 ZNF574 GRIK5 CCDC97 ITPKC EXOSC5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TGFB1 on UCSC Golden Path with GeneCards custom track

Promoters for TGFB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109644 1333 3601 CREB3L1 AGO1 YBX1 DMAP1 FEZF1 YY1 ZNF143 ZNF263 SP3 NFYC

Genomic Location for TGFB1 Gene

Chromosome:
19
Start:
41,301,587 bp from pter
End:
41,353,933 bp from pter
Size:
52,347 bases
Orientation:
Minus strand

Genomic View for TGFB1 Gene

Genes around TGFB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGFB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGFB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGFB1 Gene

Proteins for TGFB1 Gene

  • Protein details for TGFB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01137-TGFB1_HUMAN
    Recommended name:
    Transforming growth factor beta-1
    Protein Accession:
    P01137
    Secondary Accessions:
    • A8K792
    • Q9UCG4

    Protein attributes for TGFB1 Gene

    Size:
    390 amino acids
    Molecular mass:
    44341 Da
    Quaternary structure:
    • Homodimer; disulfide-linked, or heterodimer with TGFB2 (By similarity). Secreted and stored as a biologically inactive form in the extracellular matrix in a 290 kDa complex (large latent TGF-beta1 complex) containing the TGFB1 homodimer, the latency-associated peptide (LAP), and the latent TGFB1 binding protein-1 (LTBP1). The complex without LTBP1 is known as thesmall latent TGF-beta1 complex. Dissociation of the TGFB1 from LAP is required for growth factor activation and biological activity. Release of the large latent TGF-beta1 complex from the extracellular matrix is carried out by the matrix metalloproteinase MMP3 (By similarity). May interact with THSD4; this interaction may lead to sequestration by FBN1 microfibril assembly and attenuation of TGFB signaling. Interacts with the serine proteases, HTRA1 and HTRA3: the interaction with either inhibits TGFB1-mediated signaling. The HTRA protease activity is required for this inhibition (By similarity). Latency-associated peptide interacts with NREP; the interaction results in a decrease in TGFB1 autoinduction (By similarity). Interacts with CD109, DPT and ASPN. Interacts (via processed form (LAP)) with HSP90AB1; inhibits latent TGFB1 activation (PubMed:20599762).

    Three dimensional structures from OCA and Proteopedia for TGFB1 Gene

neXtProt entry for TGFB1 Gene

Post-translational modifications for TGFB1 Gene

  • Glycosylated.
  • The precursor is cleaved into mature TGF-beta-1 and LAP, which remains non-covalently linked to mature TGF-beta-1 rendering it inactive.
  • Ubiquitination at posLast=291291
  • Glycosylation at isoforms=82, posLast=136136, and posLast=176176
  • Modification sites at PhosphoSitePlus

Other Protein References for TGFB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein Products

No data available for DME Specific Peptides for TGFB1 Gene

Domains & Families for TGFB1 Gene

Gene Families for TGFB1 Gene

Graphical View of Domain Structure for InterPro Entry

P01137

UniProtKB/Swiss-Prot:

TGFB1_HUMAN :
  • The straitjacket and arm domains encircle the growth factor monomers and are fastened together by strong bonding between Lys-56 and Tyr-103/Tyr-104. Activation of TGF-beta1 requires the binding of integrin alpha-V to an RGD sequence in the prodomain and exertion of force on this domain, which is held in the extracellular matrix by latent TGF-beta binding proteins. The sheer physical force unfastens the straitjacket and releases the active growth factor dimer (By similarity).
  • Belongs to the TGF-beta family.
Domain:
  • The straitjacket and arm domains encircle the growth factor monomers and are fastened together by strong bonding between Lys-56 and Tyr-103/Tyr-104. Activation of TGF-beta1 requires the binding of integrin alpha-V to an RGD sequence in the prodomain and exertion of force on this domain, which is held in the extracellular matrix by latent TGF-beta binding proteins. The sheer physical force unfastens the straitjacket and releases the active growth factor dimer (By similarity).
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with TGFB1: view

Function for TGFB1 Gene

Molecular function for TGFB1 Gene

GENATLAS Biochemistry:
transforming growth factor,beta 1,152.6kDa,homodimerizing,expressed by fibroblast,platelet,monocyte,chondrocyte,osteoblasts,stimulating articular chondrocyte cell growth through MAPK3 activation,including the latency associated peptide (LAP),involved in the growth inhibition suppression by the complex Rb/Bog,may be implicated in susceptibility to atherosclerosis,bone diseases or various forms of cancer,regarding the presence of particular alleles at the locus
UniProtKB/Swiss-Prot Function:
Multifunctional protein that controls proliferation, differentiation and other functions in many cell types. Many cells synthesize TGFB1 and have specific receptors for it. It positively and negatively regulates many other growth factors. It plays an important role in bone remodeling as it is a potent stimulator of osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts (By similarity). Stimulates sustained production of collagen through the activation of CREB3L1 by regulated intramembrane proteolysis (RIP) (PubMed:25310401). Can promote either T-helper 17 cells (Th17) or regulatory T-cells (Treg) lineage differentiation in a concentration-dependent manner. At high concentrations, leads to FOXP3-mediated suppression of RORC and down-regulation of IL-17 expression, favoring Treg cell development. At low concentrations in concert with IL-6 and IL-21, leads to expression of the IL-17 and IL-23 receptors, favoring differentiation to Th17 cells. Mediates SMAD2/3 activation by inducing its phosphorylation and subsequent translocation to the nucleus (PubMed:25893292). Can induce epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types (PubMed:25893292).
UniProtKB/Swiss-Prot Induction:
Activated in vitro at pH below 3.5 and over 12.5.

LifeMap Function Summary for TGFB1 Gene

TGFB1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Gene Ontology (GO) - Molecular Function for TGFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001948 glycoprotein binding IPI 15247411
GO:0003823 antigen binding IPI 16754747
GO:0005114 type II transforming growth factor beta receptor binding IMP,IPI 1333888
GO:0005125 cytokine activity TAS 24263861
GO:0005160 transforming growth factor beta receptor binding TAS --
genes like me logo Genes that share ontologies with TGFB1: view
genes like me logo Genes that share phenotypes with TGFB1: view

Human Phenotype Ontology for TGFB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TGFB1 Gene

MGI Knock Outs for TGFB1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TGFB1 Gene

Localization for TGFB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGFB1 Gene

Secreted, extracellular space, extracellular matrix.

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 TGFB1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
golgi apparatus 5
cytoskeleton 3
cytosol 3
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
lysosome 1

Gene Ontology (GO) - Cellular Components for TGFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix ISS --
GO:0005615 extracellular space IDA 19734317
GO:0005634 nucleus IDA 18040277
GO:0005737 cytoplasm IDA 18040277
genes like me logo Genes that share ontologies with TGFB1: view

Pathways & Interactions for TGFB1 Gene

SuperPathways for TGFB1 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
2 SMAD2/3 MH2 Domain Mutants in Cancer
3 Th17 Differentiation Pathway
4 GPCR Pathway
5 ERK Signaling
genes like me logo Genes that share pathways with TGFB1: view

Pathways by source for TGFB1 Gene

1 Sino Biological pathway for TGFB1 Gene
1 GeneTex pathway for TGFB1 Gene
2 Cell Signaling Technology pathways for TGFB1 Gene

SIGNOR curated interactions for TGFB1 Gene

Gene Ontology (GO) - Biological Process for TGFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000060 protein import into nucleus, translocation IDA 21390327
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0000165 MAPK cascade IMP 21147091
GO:0001570 vasculogenesis ISS,IEA --
GO:0001657 ureteric bud development IEA --
genes like me logo Genes that share ontologies with TGFB1: view

Drugs & Compounds for TGFB1 Gene

(83) Drugs for TGFB1 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved, Vet_approved Pharma Channel blocker 1152
Hyaluronidase Approved, Investigational Pharma Target, inhibitor 0
Hyaluronidase (Human Recombinant) Approved Pharma Target, Inhibitor 0
Irinotecan Approved, Investigational Pharma Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1123
rituximab Approved Pharma Therapeutic Antibodies 1692

(52) Additional Compounds for TGFB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for TGFB1 Gene

Compound Action Cas Number
EW-7197 Selective inhibitor of TGF-β type I receptor kinase 1352608-82-2
ITD 1 The first selective TGFβ inhibitor 1099644-42-4
genes like me logo Genes that share compounds with TGFB1: view

Transcripts for TGFB1 Gene

Unigene Clusters for TGFB1 Gene

Transforming growth factor, beta 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TGFB1 Gene

No ASD Table

Relevant External Links for TGFB1 Gene

GeneLoc Exon Structure for
TGFB1
ECgene alternative splicing isoforms for
TGFB1

Expression for TGFB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TGFB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TGFB1 Gene

This gene is overexpressed in Whole Blood (x13.1).

Protein differential expression in normal tissues from HIPED for TGFB1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (33.8) and Platelet (23.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TGFB1 Gene



Protein tissue co-expression partners for TGFB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TGFB1 Gene:

TGFB1

SOURCE GeneReport for Unigene cluster for TGFB1 Gene:

Hs.645227

mRNA Expression by UniProt/SwissProt for TGFB1 Gene:

P01137-TGFB1_HUMAN
Tissue specificity: Highly expressed in bone. Abundantly expressed in articular cartilage and chondrocytes and is increased in osteoarthritis (OA). Colocalizes with ASPN in chondrocytes within OA lesions of articular cartilage.

Evidence on tissue expression from TISSUES for TGFB1 Gene

  • Blood(4.8)
  • Bone marrow(4.6)
  • Intestine(4.6)
  • Eye(4.5)
  • Kidney(3.4)
  • Lung(3.4)
  • Muscle(3.4)
  • Nervous system(3.3)
  • Heart(3.2)
  • Liver(3.1)
  • Bone(3)
  • Skin(3)
  • Spleen(2.9)
  • Lymph node(2.6)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TGFB1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with TGFB1: view

Primer Products

Orthologs for TGFB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TGFB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TGFB1 35 34
  • 99.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TGFB1 34
  • 92.56 (n)
cow
(Bos Taurus)
Mammalia TGFB1 35 34
  • 90.37 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tgfb1 34
  • 85.83 (n)
mouse
(Mus musculus)
Mammalia Tgfb1 16 35 34
  • 85.38 (n)
oppossum
(Monodelphis domestica)
Mammalia TGFB1 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 42 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia TGFB1 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tgfb1 34
  • 53.18 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC563884 34
  • 53.16 (n)
tgfb1a 35
  • 44 (a)
OneToMany
tgfb1b 35
  • 42 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6056 34
fruit fly
(Drosophila melanogaster)
Insecta daw 35
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToMany
Species where no ortholog for TGFB1 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)
  • chicken (Gallus gallus)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 TGFB1 Gene

ENSEMBL:
Gene Tree for TGFB1 (if available)
TreeFam:
Gene Tree for TGFB1 (if available)

Paralogs for TGFB1 Gene

Paralogs for TGFB1 Gene

genes like me logo Genes that share paralogs with TGFB1: view

Variants for TGFB1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TGFB1 Gene

TGFB1_HUMAN-P01137
In post-menopausal Japanese women, the frequency of Leu-10 is higher in subjects with osteoporosis than in controls.

Sequence variations from dbSNP and Humsavar for TGFB1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_017607 Camurati-Engelmann disease (CAEND) [MIM:131300]
VAR_017608 Camurati-Engelmann disease (CAEND) [MIM:131300]
VAR_017609 Camurati-Engelmann disease (CAEND) [MIM:131300]
VAR_017610 Camurati-Engelmann disease (CAEND) [MIM:131300]
VAR_017611 Camurati-Engelmann disease (CAEND) [MIM:131300]

Structural Variations from Database of Genomic Variants (DGV) for TGFB1 Gene

Variant ID Type Subtype PubMed ID
nsv521311 CNV gain 19592680

Variation tolerance for TGFB1 Gene

Residual Variation Intolerance Score: 50.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.50; 64.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TGFB1 Gene

Human Gene Mutation Database (HGMD)
TGFB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGFB1

Disorders for TGFB1 Gene

MalaCards: The human disease database

(166) MalaCards diseases for TGFB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards