TWSG1 Gene (Protein Coding)

Twisted Gastrulation BMP Signaling Modulator 1

GC18P009334
GIFtS:
38
See more...

Aliases for TWSG1 Gene

Aliases for TWSG1 Gene

  • Twisted Gastrulation BMP Signaling Modulator 1 2 3 5
  • TSG 2 3 4
  • Twisted Gastrulation Protein Homolog 1 3 4
  • Twisted Gastrulation Homolog 1 (Drosophila) 2
  • Twisted Gastrulation Homolog 1 3
  • TWSG1 5

External Ids for TWSG1 Gene

Previous GeneCards Identifiers for TWSG1 Gene

  • GC00U990679
  • GC18P009391
  • GC18P009324

Summaries for TWSG1 Gene

GeneCards Summary for TWSG1 Gene

TWSG1 (Twisted Gastrulation BMP Signaling Modulator 1) is a Protein Coding gene. Diseases associated with TWSG1 include Breast Papillomatosis and Holoprosencephaly. Among its related pathways are Mesodermal Commitment Pathway.

UniProtKB/Swiss-Prot Summary for TWSG1 Gene

  • May be involved in dorsoventral axis formation. Seems to antagonize BMP signaling by forming ternary complexes with CHRD and BMPs, thereby preventing BMPs from binding to their receptors. In addition to the anti-BMP function, also has pro-BMP activity, partly mediated by cleavage and degradation of CHRD, which releases BMPs from ternary complexes. May be an important modulator of BMP-regulated cartilage development and chondrocyte differentiation. May play a role in thymocyte development (By similarity).

Gene Wiki entry for TWSG1 Gene

Additional gene information for TWSG1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TWSG1 Gene

Genomics for TWSG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TWSG1 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 TWSG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TWSG1

Top Transcription factor binding sites by QIAGEN in the TWSG1 gene promoter:
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • HNF-1
  • HNF-1A
  • ISGF-3
  • STAT5A
  • STAT5B
  • TBP
  • TFIID

Genomic Locations for TWSG1 Gene

Latest Assembly
chr18:9,334,767-9,402,420
(GRCh38/hg38)
Size:
67,654 bases
Orientation:
Plus strand

Previous Assembly
chr18:9,334,771-9,402,418
(GRCh37/hg19 by Entrez Gene)
Size:
67,648 bases
Orientation:
Plus strand

chr18:9,334,765-9,402,418
(GRCh37/hg19 by Ensembl)
Size:
67,654 bases
Orientation:
Plus strand

Genomic View for TWSG1 Gene

Genes around TWSG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TWSG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TWSG1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TWSG1 Gene

Proteins for TWSG1 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for TWSG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZX9-TWSG1_HUMAN
    Recommended name:
    Twisted gastrulation protein homolog 1
    Protein Accession:
    Q9GZX9
    Secondary Accessions:
    • B2RE08
    • D3DUH9
    • Q8NBI7
    • Q96K46

    Protein attributes for TWSG1 Gene

    Size:
    223 amino acids
    Molecular mass:
    25017 Da
    Quaternary structure:
    • Interacts with CHRD and BMP4. This interaction enhances CHRD/BMP4 complex formation. Interacts with BMP7 (By similarity).
    SequenceCaution:
    • Sequence=BAB55246.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for TWSG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TWSG1 Gene

Protein Expression for TWSG1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TWSG1 Gene

  • Glycosylation at Asn52 and Asn81
  • Ubiquitination at Lys192
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TWSG1_HUMAN (1867)

Other Protein References for TWSG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TWSG1 Gene

Domains & Families for TWSG1 Gene

Gene Families for TWSG1 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for TWSG1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TWSG1 Gene

GenScript: Design optimal peptide antigens:
  • Twisted gastrulation protein homolog 1 (TWSG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9GZX9

UniProtKB/Swiss-Prot:

TWSG1_HUMAN :
  • The N-terminal domain is sufficient to interact with BMP4.
  • Belongs to the twisted gastrulation protein family.
Domain:
  • The N-terminal domain is sufficient to interact with BMP4.
Family:
  • Belongs to the twisted gastrulation protein family.
genes like me logo Genes that share domains with TWSG1: view

Function for TWSG1 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for TWSG1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in dorsoventral axis formation. Seems to antagonize BMP signaling by forming ternary complexes with CHRD and BMPs, thereby preventing BMPs from binding to their receptors. In addition to the anti-BMP function, also has pro-BMP activity, partly mediated by cleavage and degradation of CHRD, which releases BMPs from ternary complexes. May be an important modulator of BMP-regulated cartilage development and chondrocyte differentiation. May play a role in thymocyte development (By similarity).

Phenotypes From GWAS Catalog for TWSG1 Gene

Gene Ontology (GO) - Molecular Function for TWSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0050431 transforming growth factor beta binding IDA 17164348
genes like me logo Genes that share ontologies with TWSG1: view
genes like me logo Genes that share phenotypes with TWSG1: view

Animal Models for TWSG1 Gene

MGI Knock Outs for TWSG1:

Animal Models for research

  • Taconic Biosciences Mouse Models for TWSG1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TWSG1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TWSG1 Gene

Localization for TWSG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TWSG1 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 TWSG1 gene
Compartment Confidence
extracellular 4
cytoskeleton 3
cytosol 3
plasma membrane 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TWSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA,IBA 21873635
genes like me logo Genes that share ontologies with TWSG1: view

Pathways & Interactions for TWSG1 Gene

PathCards logo

SuperPathways for TWSG1 Gene

SuperPathway Contained pathways
1 Mesodermal Commitment Pathway
Mesodermal Commitment Pathway
.36
genes like me logo Genes that share pathways with TWSG1: view

Pathways by source for TWSG1 Gene

1 BioSystems pathway for TWSG1 Gene

Gene Ontology (GO) - Biological Process for TWSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0001707 mesoderm formation IEA --
GO:0001818 negative regulation of cytokine production IDA 17164348
GO:0007179 transforming growth factor beta receptor signaling pathway IDA 17164348
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with TWSG1: view

No data available for SIGNOR curated interactions for TWSG1 Gene

Drugs & Compounds for TWSG1 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for TWSG1 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for TWSG1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TWSG1

Alternative Splicing Database (ASD) splice patterns (SP) for TWSG1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b
SP1: - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - -
SP5:
SP6: -

Relevant External Links for TWSG1 Gene

GeneLoc Exon Structure for
TWSG1

Expression for TWSG1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TWSG1 Gene

mRNA expression in normal human tissues for TWSG1 Gene
mRNA expression by BioGPS for TWSG1 GenemRNA expression by GTEx for TWSG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TWSG1 Gene

This gene is overexpressed in Urine (38.5), Serum (11.5), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TWSG1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TWSG1

SOURCE GeneReport for Unigene cluster for TWSG1 Gene:

Hs.514685

Evidence on tissue expression from TISSUES for TWSG1 Gene

  • Lung(4.5)
  • Nervous system(3.9)
  • Kidney(2.6)
  • Intestine(2.5)
  • Liver(2.4)
  • Heart(2.3)
  • Skin(2.3)
  • Thyroid gland(2.2)
  • Lymph node(2.2)
  • Spleen(2.2)
  • Blood(2.2)
  • Muscle(2.1)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with TWSG1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TWSG1 Gene

Orthologs for TWSG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TWSG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TWSG1 30 31
  • 99.85 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TWSG1 31
  • 94 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TWSG1 31
  • 93 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TWSG1 30 31
  • 91.03 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TWSG1 30 31
  • 90.13 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Twsg1 30
  • 85.14 (n)
Mouse
(Mus musculus)
 Mammalia Twsg1 30 17 31
  • 84.68 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves TWSG1 30 31
  • 82.24 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TWSG1 31
  • 76 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia twsg1 30
  • 70.34 (n)
Str.1743 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.778 30
Zebrafish
(Danio rerio)
 Actinopterygii twsg1a 30 31
  • 68.55 (n)
 OneToMany
twsg1b 31
  • 60 (a)
 OneToMany
tsga 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.1024 30
Fruit Fly
(Drosophila melanogaster)
 Insecta tsg 30 31
  • 45.71 (n)
 OneToMany
srw 31
  • 35 (a)
 OneToMany
cv 31
  • 31 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 47 (a)
 OneToOne
Species where no ortholog for TWSG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 TWSG1 Gene

ENSEMBL:
Gene Tree for TWSG1 (if available)
TreeFam:
Gene Tree for TWSG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TWSG1: view image

Paralogs for TWSG1 Gene

No data available for Paralogs for TWSG1 Gene

Variants for TWSG1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TWSG1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TWSG1 Gene

Variant ID Type Subtype PubMed ID
dgv1546n106 CNV deletion 24896259
dgv55n6 CNV deletion 16902084
esv2716769 CNV deletion 23290073
esv3304810 CNV mobile element insertion 20981092
esv3310271 CNV mobile element insertion 20981092
esv3332314 CNV insertion 20981092
esv3555034 CNV deletion 23714750
esv7261 CNV loss 19470904
nsv1056407 CNV gain 25217958
nsv1069735 CNV deletion 25765185
nsv1133243 CNV tandem duplication 24896259
nsv1151888 CNV deletion 26484159
nsv1160506 CNV duplication 26073780
nsv507859 OTHER sequence alteration 20534489
nsv576447 CNV gain 21841781
nsv833585 CNV gain+loss 17160897
nsv954080 CNV deletion 24416366

Variation tolerance for TWSG1 Gene

Residual Variation Intolerance Score: 36.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TWSG1 Gene

Human Gene Mutation Database (HGMD)
TWSG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TWSG1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TWSG1 Gene

Disorders for TWSG1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TWSG1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
breast papillomatosis
  • papillomatosis of the breast
holoprosencephaly
  • holoprosencephaly sequence
prolapse of urethra
  • urethrocele
anemia, congenital dyserythropoietic, type ia
  • cdan1a
agnathia-otocephaly complex
  • agotc
- elite association - COSMIC cancer census association via MalaCards
Search TWSG1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TWSG1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TWSG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TWSG1 Gene

Publications for TWSG1 Gene

  1. Evolutionary conservation, developmental expression, and genomic mapping of mammalian Twisted gastrulation. (PMID: 11420619) Graf D … Merkenschlager M (Mammalian genome : official journal of the International Mammalian Genome Society 2001) 3 4 23
  2. Homologues of Twisted gastrulation are extracellular cofactors in antagonism of BMP signalling. (PMID: 11260715) Scott IC … Greenspan DS (Nature 2001) 2 3 4
  3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3

ExternalLinks

View latest publications for TWSG1 gene in Mastermind

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