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This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is ind... See more...
Aliases for TGFBI Gene
Aliases for TGFBI Gene
External Ids for TGFBI Gene
- HGNC: 11771
- Entrez Gene: 7045
- Ensembl: ENSG00000120708
- OMIM: 601692
- UniProtKB: Q15582
Previous HGNC Symbols for TGFBI Gene
- CSD3
- LCD1
- CSD1
- CSD2
Previous GeneCards Identifiers for TGFBI Gene
- GC05P135240
- GC05P135395
- GC05P135440
- GC05P135392
- GC05P130553
- GC05P135364
Summaries for TGFBI Gene
-
This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008]
GeneCards Summary for TGFBI Gene
TGFBI (Transforming Growth Factor Beta Induced) is a Protein Coding gene. Diseases associated with TGFBI include Corneal Dystrophy, Avellino Type and Corneal Dystrophy, Reis-Bucklers Type. Among its related pathways are Metabolism of proteins and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include integrin binding and extracellular matrix binding. An important paralog of this gene is POSTN.
UniProtKB/Swiss-Prot Summary for TGFBI Gene
-
Plays a role in cell adhesion (PubMed:8024701). May play a role in cell-collagen interactions (By similarity).
Additional gene information for TGFBI Gene
- HGNC(11771)
- Entrez Gene(7045)
- Ensembl(ENSG00000120708)
- OMIM(601692)
- UniProtKB(Q15582)
- Open Targets Platform(ENSG00000120708)
- Monarch Initiative
- Search for TGFBI at DataMed
- Search for TGFBI at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TGFBI Gene
Genomics for TGFBI Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TGFBI Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TGFBI on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TGFBI
- Top Transcription factor binding sites by QIAGEN in the TGFBI gene promoter:
-
- ISGF-3
- NF-AT
- NF-AT1
- NF-AT2
- NF-AT3
- NF-AT4
- SEF-1 (1)
- SREBP-1c
- STAT5B
- ZID
Genomic Locations for TGFBI Gene
Genomic Locations for TGFBI Gene
- chr5:136,028,988-136,063,818
- (GRCh38/hg38)
- Size:
- 34,831 bases
- Orientation:
- Plus strand
- chr5:135,364,584-135,399,507
- (GRCh37/hg19)
- Size:
- 34,924 bases
- Orientation:
- Plus strand
Genomic View for TGFBI Gene
Genes around TGFBI on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q31.1 by HGNC
- 5q31.1 by Entrez Gene
- 5q31.1 by Ensembl
TGFBI Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TGFBI Gene
Proteins for TGFBI Gene
-
Protein details for TGFBI Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15582-BGH3_HUMAN
- Recommended name:
- Transforming growth factor-beta-induced protein ig-h3
- Protein Accession:
- Q15582
- D3DQB1
- O14471
- O14472
- O14476
- O43216
- O43217
- O43218
- O43219
- Q53XM1
Protein attributes for TGFBI Gene
- Size:
- 683 amino acids
- Molecular mass:
- 74681 Da
- Quaternary structure:
-
- Binds to type I, II, and IV collagens.
Protein Expression for TGFBI Gene
Post-translational modifications for TGFBI Gene
- Gamma-carboxylation is controversial. Gamma-carboxyglutamated; gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation; these residues may be required for binding to calcium (PubMed:18450759). According to a more recent report, does not contain vitamin K-dependent gamma-carboxyglutamate residues (PubMed:26273833).
- The EMI domain contains 2 expected intradomain disulfide bridges (Cys-49-Cys85 and Cys-84-Cys-97) and one unusual interdomain disulfide bridge to the second FAS1 domain (Cys-74-Cys-339). This arrangement violates the predicted disulfide bridge pattern of an EMI domain.
-
Glycosylation at Ser28
- NX_Q15582 (NX_Q15582-1)
- Modification sites at PhosphoSitePlus
Other Protein References for TGFBI Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ TGFBI Antibody
-
Custom Antibody ServicesOriGene Antibodies for TGFBI
- Novus Biologicals Antibodies for TGFBI
-
Abcam antibodies for TGFBI
- Invitrogen Antibodies for TGFBI (AFLGC-TGFBI)
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for TGFBI
- Origene Custom Protein Services for TGFBI
- Sino Biological Recombinant Proteins for TGFBI
- Sino Biological Cell Lysates for TGFBI
- ProSpec Recombinant Proteins for TGFBI
-
Abcam proteins for TGFBI
No data available for DME Specific Peptides for TGFBI Gene
Domains & Families for TGFBI Gene
Gene Families for TGFBI Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for TGFBI Gene
- InterPro:
- Blocks:
-
- EMI
- Beta-Ig-H3/Fasciclin domain
- ProtoNet:
Suggested Antigen Peptide Sequences for TGFBI Gene
- GenScript: Design optimal peptide antigens:
-
- RGD-containing collagen-associated protein (BGH3_HUMAN)
- Transforming growth factor beta (C7FFS5_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TGFBI Gene
Function for TGFBI Gene
Molecular function for TGFBI Gene
- UniProtKB/Swiss-Prot Function:
- Plays a role in cell adhesion (PubMed:8024701). May play a role in cell-collagen interactions (By similarity).
- UniProtKB/Swiss-Prot Induction:
- By TGF-beta (PubMed:1388724, PubMed:8024701).
- GENATLAS Biochemistry:
- transforming growth factor B induced gene,keratoepithelin,expressed predominantly on the external surface of corneal epithelial cells,mutated in corneal dystrophies,major component of abnormal deposits
Phenotypes From GWAS Catalog for TGFBI Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005178 | integrin binding | IEA | -- |
| GO:0005201 | extracellular matrix structural constituent | RCA | 20551380 |
| GO:0005515 | protein binding | IPI | 19478074 |
| GO:0005518 | collagen binding | IEA,IPI | 19478074 |
| GO:0050839 | cell adhesion molecule binding | IBA | 21873635 |
Phenotypes for TGFBI Gene
- MGI mutant phenotypes for TGFBI:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for TGFBI:
Animal Models for TGFBI Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TGFBI - Select products 50% OFF >
- * TGFBI CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TGFBI
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TGFBI
-
Santa Cruz Biotechnology (SCBT) CRISPR for TGFBI
miRNA for TGFBI Gene
- miRTarBase miRNAs that target TGFBI
-
- hsa-miR-21-5p (MIRT001208)
- mmu-miR-21a-5p (MIRT006432)
- hsa-miR-9-5p (MIRT006894)
- mmu-miR-181a-5p (MIRT007331)
- hsa-miR-30a-5p (MIRT028431)
- hsa-miR-26b-5p (MIRT028995)
- hsa-miR-16-5p (MIRT031494)
- hsa-miR-675-5p (MIRT437499)
- hsa-miR-6070 (MIRT715369)
- hsa-miR-7977 (MIRT715370)
- hsa-miR-5195-3p (MIRT715371)
- hsa-miR-145-5p (MIRT715372)
- hsa-miR-6787-3p (MIRT715373)
- hsa-miR-4267 (MIRT715374)
- hsa-miR-5690 (MIRT715375)
- hsa-miR-5588-3p (MIRT715376)
- hsa-miR-6854-5p (MIRT715377)
- hsa-miR-629-3p (MIRT721069)
- hsa-miR-519e-5p (MIRT721070)
- hsa-miR-515-5p (MIRT721071)
- hsa-miR-3925-3p (MIRT721072)
- hsa-miR-766-3p (MIRT721073)
- hsa-miR-1322 (MIRT721074)
- hsa-miR-580-5p (MIRT721075)
- ssc-miR-21 (MIRT735290)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TGFBI
- Browse OriGene Inhibitory RNA Products For TGFBI
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TGFBI
Clone Products
- Applied Biological Materials (abm): Clones for TGFBI - Select products 50% OFF >
- * TGFBI as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TGFBI
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TGFBI
Cell Line Products
-
Horizon Cell Lines for TGFBI
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TGFBI Gene
Localization for TGFBI Gene
Subcellular locations from UniProtKB/Swiss-Prot for TGFBI Gene
- Secreted. Secreted, extracellular space, extracellular matrix. Note=May be associated both with microfibrils and with the cell surface (PubMed:8077289). {ECO:0000269 PubMed:8077289}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 4 |
| golgi apparatus | 4 |
| cytosol | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | HDA,TAS | -- |
| GO:0005604 | basement membrane | IEA | -- |
| GO:0005615 | extracellular space | TAS,IDA | 19478074 |
| GO:0005802 | trans-Golgi network | IDA | 19478074 |
| GO:0005886 | plasma membrane | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TGFBI Gene
Pathways & Interactions for TGFBI Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Adhesion |
-
|
|
| 2 | Wnt / Hedgehog / Notch | ||
| 3 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
| 4 | Metabolism of proteins | ||
Pathways by source for TGFBI Gene
2 Reactome pathways for TGFBI Gene
2 Cell Signaling Technology pathways for TGFBI Gene
Interacting Proteins for TGFBI Gene
Selected Interacting proteins:
Q15582-BGH3_HUMAN
ENSP00000416330
for TGFBI Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for TGFBI
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001525 | angiogenesis | IEP | 11866539 |
| GO:0002062 | chondrocyte differentiation | IEA | -- |
| GO:0007155 | cell adhesion | IEA,IBA | 21873635 |
| GO:0007162 | negative regulation of cell adhesion | TAS | 8024701 |
| GO:0007601 | visual perception | TAS,IEA | -- |
Drugs & Compounds for TGFBI Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Calcium | Nutra | 6556 |
Transcripts for TGFBI Gene
mRNA/cDNA for TGFBI Gene
- 1 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000442011 2712 nts (view in UCSC)
- ENST00000503087 399 nts (view in UCSC)
- ENST00000504185 561 nts (view in UCSC)
- ENST00000504411 1033 nts (view in UCSC)
- ENST00000506699 3159 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TGFBI - Select products 50% OFF >
- * TGFBI CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TGFBI
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TGFBI
-
Santa Cruz Biotechnology (SCBT) CRISPR for TGFBI
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TGFBI
- Browse OriGene Inhibitory RNA Products For TGFBI
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TGFBI
Clone Products
- Applied Biological Materials (abm): Clones for TGFBI - Select products 50% OFF >
- * TGFBI as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TGFBI
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TGFBI
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: |
| ExUns: | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18 | ^ | 19a | · | 19b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||
| SP4: | |||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||
| SP13: | - | - | |||||||||||||||||||||
| SP14: |
Relevant External Links for TGFBI Gene
- GeneLoc Exon Structure for
- TGFBI
Expression for TGFBI Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
- Cortical Stroma Cells Interstitial Stroma
- Wolffian Duct
- Interstitial Stroma
-
Lung (Respiratory System)
- Chondrocytes Tracheal Cartilage
- Basal Cells Trachea
- Tracheal Cartilage
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
-
Hair (Integumentary System)
- Outer Root Sheath Cells Outer Root Sheath
- Bulge Stem Cells Bulge
-
Epithelial Cells
- Outer Root Sheath Cells Outer Root Sheath
- Basal Cells Trachea
-
Blood (Hematopoietic System)
- Monocytes Peripheral Blood
- Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
- Limb (Muscoskeletal System)
- Liver (Hepatobiliary System)
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
-
Ovary (Reproductive System)
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
-
Head Mesenchyme (Muscoskeletal System)
- Dental Mesenchymal Cells Branchial Arch 1
-
Tooth
- Dental Mesenchymal Cells Branchial Arch 1
- Intermediate Mesoderm (Gastrulation Derivatives)
- Gut Tube (Gastrointestinal Tract)
- Cartilage (Muscoskeletal System)
- Lower Urinary Tract (Urinary System)
- Eye (Sensory Organs)
- Inner Cell Mass (Early Embryonic Tissues)
- Dermis (Integumentary System)
- Fibroblasts
- NULL (Uncategorized)
-
Uterus (Reproductive System)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Gall Bladder (Hepatobiliary System)
-
Adrenal Gland (Endocrine System)
-
Adipose (Muscoskeletal System)
This gene is overexpressed in Bone marrow mesenchymal stem cell (16.9) and Uterus (11.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TGFBI Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TGFBI
SOURCE GeneReport for Unigene cluster for TGFBI Gene:
Hs.369397mRNA Expression by UniProt/SwissProt for TGFBI Gene:
Q15582-BGH3_HUMAN
Tissue specificity:
Highly expressed in the corneal epithelium (PubMed:27609313, PubMed:8077289). Expressed in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas (PubMed:8077289).
Evidence on tissue expression from TISSUES for TGFBI Gene
- Kidney(5)
- Nervous system(5)
- Skin(4.9)
- Lung(4.9)
- Eye(4.8)
- Liver(4.8)
- Intestine(4.6)
- Pancreas(4.5)
- Spleen(3.9)
- Heart(3.2)
- Blood(3.1)
- Thyroid gland(3)
- Bone(3)
- Muscle(2.9)
- Lymph node(2.8)
- Stomach(2.3)
- Bone marrow(2.3)
- Gall bladder(2.1)
- Adrenal gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TGFBI Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- head
General:
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for TGFBI
-
OriGene qPCR primer pairs and template standards for TGFBI
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for TGFBI Gene
Orthologs for TGFBI Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TGFBI 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TGFBI 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TGFBI 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Tgfbi 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TGFBI 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tgfbi 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | TGFBI 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TGFBI 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | TGFBI 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tgfbi 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.1587 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | tgfbi 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9551 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | mfas 30 31 32 |
|
ManyToMany | |
| Fas1 31 |
|
ManyToMany | |||
| CG43333 31 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004428 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | F26E4.7 31 |
|
OneToMany |
- Species where no ortholog for TGFBI was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (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)
Evolution for TGFBI Gene
- ENSEMBL:
- Gene Tree for TGFBI (if available)
- TreeFam:
- Gene Tree for TGFBI (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TGFBI: view image
Paralogs for TGFBI Gene
Variants for TGFBI Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TGFBI Gene
| SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 713967 | Conflicting Interpretations: Corneal dystrophy; not provided | 136,055,773(+) | A/G | MISSENSE_VARIANT | |
| 741453 | Likely Benign: not provided | 136,049,468(+) | G/A | SYNONYMOUS_VARIANT | |
| 742763 | Conflicting Interpretations: Corneal dystrophy; not provided | 136,055,708(+) | C/T | MISSENSE_VARIANT | |
| 746359 | Conflicting Interpretations: Corneal dystrophy; not provided | 136,049,519(+) | C/A | SYNONYMOUS_VARIANT | |
| 750482 | Benign/Likely Benign: Corneal dystrophy; not provided | 136,049,472(+) | C/T | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2759380 | CNV | loss | 17122850 |
Residual Variation Intolerance Score:
76.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.48;
55.08% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TGFBI Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGFBI Gene
Disorders for TGFBI Gene
(38) MalaCards diseases for TGFBI Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| corneal dystrophy, avellino type |
|
|
| corneal dystrophy, reis-bucklers type |
|
|
| corneal dystrophy, thiel-behnke type |
|
|
| corneal dystrophy, groenouw type i |
|
|
| corneal dystrophy, lattice type i |
|
Search TGFBI in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
BGH3_HUMAN- Corneal dystrophy, epithelial basement membrane (EBMD) [MIM:121820]: A bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris. {ECO:0000269 PubMed:16652336}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Corneal dystrophy, Groenouw type 1 (CDGG1) [MIM:121900]: A rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment. {ECO:0000269 PubMed:15623763}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL1 is characterized by progressive visual impairment, and the presence of delicate, double-contoured, interdigitating, elongated deposits that form a reticular pattern in the corneal stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration sometimes occurs. {ECO:0000269 PubMed:10837380, ECO:0000269 PubMed:11413411, ECO:0000269 PubMed:14597039, ECO:0000269 PubMed:15531312, ECO:0000269 PubMed:15623763, ECO:0000269 PubMed:15838722, ECO:0000269 PubMed:16541014, ECO:0000269 PubMed:17013691, ECO:0000269 PubMed:9799082}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Corneal dystrophy, Thiel-Behnke type (CDTB) [MIM:602082]: A bilateral disorder of the cornea characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Corneal dystrophy, Reis-Bucklers type (CDRB) [MIM:608470]: A bilateral disorder of the cornea characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive decrease of visual acuity. The lesions are primarily in Bowman membrane with secondary involvement of the epithelium and superficial part of the stroma. Bowman membrane is almost completely replaced by pathologic materials including disoriented collagen fibrils. {ECO:0000269 PubMed:10660331, ECO:0000269 PubMed:15623763, ECO:0000269 PubMed:9780098}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471]: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL3A is characterized by decreased visual acuity, and the presence of thick, ropy branching lattice lines and accumulations of amyloid deposits in the corneal stroma. Systemic amyloidosis is absent. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern. {ECO:0000269 PubMed:15790870, ECO:0000269 PubMed:9497262}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Corneal dystrophy, Avellino type (CDA) [MIM:607541]: A corneal disease resulting in reduced visual acuity and characterized by gray, crumb-like granular deposits in the anterior third of the stroma in each corneal button. Fusiform amyloid deposits, histochemically and morphologically identical to those of lattice corneal dystrophy, are found in the deeper stroma. Additional features include recurrent corneal erosions, and glare and decreased night vision. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TGFBI
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for TGFBI Gene
Publications for TGFBI Gene
- Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations. (PMID: 19303004) Zenteno JC … Villanueva-Mendoza C (Experimental eye research 2009) 3 23 41
- Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. (PMID: 16541014) Aldave AJ … Yellore VS (Molecular vision 2006) 3 4 23
- Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy. (PMID: 16636649) Zenteno JC … Suarez-Sanchez R (Molecular vision 2006) 3 4 23
- TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. (PMID: 15623763) Chakravarthi SV … Vemuganti GK (Investigative ophthalmology & visual science 2005) 3 4 23
- Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. (PMID: 15790870) Stix B … Röcken C (Investigative ophthalmology & visual science 2005) 3 4 23
ExternalLinks
Products for TGFBI Gene
- View all 9 R&D Systems TGFBI (beta IG-H3) Products
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Sources for TGFBI Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
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- (7) GeneLoc
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