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Aliases for TWSG1 Gene

Aliases for TWSG1 Gene

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

External Ids for TWSG1 Gene

Previous GeneCards Identifiers for TWSG1 Gene

  • GC00U990679
  • GC18P009391

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 Holoprosencephaly. Among its related pathways are Mesodermal Commitment Pathway.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for TWSG1 Gene

Genomics for TWSG1 Gene

GeneHancer (GH) Regulatory Elements for TWSG1 Gene

Promoters and enhancers for TWSG1 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
GH18I009333 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 575.4 +0.1 115 2.7 HDGF ATF1 ARID4B SIN3A ZNF48 GLIS2 ZNF143 ZNF207 KLF7 KLF13 TWSG1 LOC102724397 ANKRD12 ENSG00000266708 PPP4R1 LOC105371980
GH18I009100 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18.1 -228.9 -228874 9.8 HDGF PKNOX1 SMAD1 FOXA2 ARNT SIN3A YBX1 FEZF1 DMAP1 ZNF2 NDUFV2 ANKRD12 TWSG1 ENSG00000263847 ENSG00000266708 PPP4R1 RAB12 ENSG00000265257
GH18I009133 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18.1 -197.3 -197318 8.3 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ANKRD12 NDUFV2-AS1 ENSG00000266708 NDUFV2 TWSG1 ENSG00000263847 ENSG00000265257 GC18P009243 PIR35454
GH18I009403 Enhancer 1.1 Ensembl ENCODE 30.9 +69.8 69784 2.2 PKNOX1 ATF1 ARNT TCF12 POLR2B E2F8 ATF7 NCOA1 REST ZNF592 LOC105371980 TWSG1
GH18I009112 Enhancer 1.3 Ensembl ENCODE dbSUPER 18.1 -217.5 -217505 9.3 HDGF FOXA2 PKNOX1 FEZF1 ZNF2 IRF4 TCF12 POLR2B ARID2 ZNF207 ENSG00000263847 TWSG1 ANKRD12 NDUFV2 ENSG00000265257 NDUFV2-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TWSG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TWSG1 gene promoter:

Genomic Locations for TWSG1 Gene

Genomic Locations for TWSG1 Gene
chr18:9,334,767-9,402,420
(GRCh38/hg38)
Size:
67,654 bases
Orientation:
Plus strand
chr18:9,334,765-9,402,418
(GRCh37/hg19)

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 StructureGene Density

RefSeq DNA sequence for TWSG1 Gene

Proteins for TWSG1 Gene

  • 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};

    Alternative splice isoforms for TWSG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TWSG1 Gene

Post-translational modifications for TWSG1 Gene

  • Ubiquitination at posLast=192192
  • Glycosylation at posLast=5252 and posLast=8181
  • Modification sites at PhosphoSitePlus

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:

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

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 Model Products

  • Taconic Biosciences Mouse Models for TWSG1

Clone Products

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 5
cytosol 3
cytoskeleton 2
plasma membrane 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 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 --
GO:0070062 extracellular exosome HDA,IDA 23376485
genes like me logo Genes that share ontologies with TWSG1: view

Pathways & Interactions for TWSG1 Gene

SuperPathways for TWSG1 Gene

SuperPathway Contained pathways
1 Mesodermal Commitment Pathway
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

No Compound Related Data Available

Transcripts for TWSG1 Gene

mRNA/cDNA for TWSG1 Gene

Unigene Clusters for TWSG1 Gene

Twisted gastrulation homolog 1 (Drosophila):
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
TWSG1

Expression for TWSG1 Gene

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



NURSA nuclear receptor signaling pathways regulating expression of TWSG1 Gene:

TWSG1

SOURCE GeneReport for Unigene cluster for TWSG1 Gene:

Hs.514685

Evidence on tissue expression from TISSUES for TWSG1 Gene

  • Lung(4.6)
  • Nervous system(3.7)
  • Kidney(2.1)
  • Heart(2)
  • Liver(2)
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 33 34
  • 99.85 (n)
oppossum
(Monodelphis domestica)
Mammalia TWSG1 34
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TWSG1 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TWSG1 33 34
  • 91.03 (n)
cow
(Bos Taurus)
Mammalia TWSG1 33 34
  • 90.13 (n)
rat
(Rattus norvegicus)
Mammalia Twsg1 33
  • 85.14 (n)
mouse
(Mus musculus)
Mammalia Twsg1 33 16 34
  • 84.68 (n)
chicken
(Gallus gallus)
Aves TWSG1 33 34
  • 82.24 (n)
lizard
(Anolis carolinensis)
Reptilia TWSG1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia twsg1 33
  • 70.34 (n)
Str.1743 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.778 33
zebrafish
(Danio rerio)
Actinopterygii twsg1a 33 34
  • 68.55 (n)
twsg1b 34
  • 60 (a)
OneToMany
tsga 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1024 33
fruit fly
(Drosophila melanogaster)
Insecta tsg 33 34
  • 45.71 (n)
srw 34
  • 35 (a)
OneToMany
cv 34
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToOne
Species where no ortholog for TWSG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for TWSG1 Gene

No data available for Paralogs for TWSG1 Gene

Variants for TWSG1 Gene

Sequence variations from dbSNP and Humsavar for TWSG1 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000030508 -- 9,364,833(+) T/C intron_variant
rs1000073747 -- 9,334,164(+) C/A upstream_transcript_variant
rs1000098931 -- 9,396,531(+) T/C coding_sequence_variant, missense_variant
rs1000135743 -- 9,375,793(+) A/G intron_variant
rs1000155242 -- 9,369,793(+) A/G intron_variant

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 Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TWSG1 Gene

Disorders for TWSG1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TWSG1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
holoprosencephaly
  • holoprosencephaly sequence
- 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

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. Homologues of Twisted gastrulation are extracellular cofactors in antagonism of BMP signalling. (PMID: 11260715) Scott IC … Greenspan DS (Nature 2001) 2 3 4 58
  2. 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 22 58
  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 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for TWSG1 Gene

Sources for TWSG1 Gene

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