TWSG1 twisted gastrulation BMP signaling modulator 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TWSG1provided by HGNC
Official Full Name: twisted gastrulation BMP signaling modulator 1provided by HGNC
Primary source: HGNC:HGNC:12429
See related: Ensembl:ENSG00000128791 MIM:605049; AllianceGenome:HGNC:12429
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TSG
Summary: Enables transforming growth factor beta binding activity. Involved in negative regulation of CD4-positive, alpha-beta T cell proliferation; negative regulation of cytokine production; and positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in endometrium (RPKM 35.8), gall bladder (RPKM 26.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18p11.22

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (9334773..9402420)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (9497987..9565608)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (9334771..9402418)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Multifaceted Functions of TWSG1: From Embryogenesis to Cancer Development.
Title: Multifaceted Functions of TWSG1: From Embryogenesis to Cancer Development.
Twisted gastrulation signaling modulator 1 promotes the ability of glioma cell through activating Akt pathway.
Title: Twisted gastrulation signaling modulator 1 promotes the ability of glioma cell through activating Akt pathway.
Internal cleavage and synergy with TWSG1 enhance BMP-4 inhibition by BMPER.
Title: Internal cleavage and synergy with twisted gastrulation enhance BMP inhibition by BMPER.
Findings indicate that twisted gastrulation homolog 1 (TWSG1) maybe serves as a tumor suppressor gene in gastric cancer and potential biomarker or therapeutic target for the diagnosis and treatment of gastric cancer.
Title: TWSG1 Is a Novel Tumor Suppressor in Gastric Cancer.
Tsg functions as a BMP-agonist by inducing conformational change in chordin making it more susceptible to tolloid cleavage and as a BMP-antagonist either independently or via a chordin-mediated mechanism.
Title: Structural characterization of twisted gastrulation provides insights into opposing functions on the BMP signalling pathway.
Data suggest CHRD (chordin) cleavage by tolloid-like metalloproteinases is insufficient to regulate BMP(bone morphogenetic protein)/BMPR signaling; CHRD fragments and TSG (twisted gastrulation protein) contribute to inhibition of BMP/BMPR signaling.
Title: The role of chordin fragments generated by partial tolloid cleavage in regulating BMP activity.
these results suggest that BMPER and Tsg maintain a fine-tuned equilibrium that controls BMP pathway activity and is necessary for vascular cell homeostasis.
Title: Antagonism and synergy between extracellular BMP modulators Tsg and BMPER balance blood vessel formation.
mutations in the twisted gastrulation homolog 1 gene are neither a common direct cause nor a frequent modifying factor for human holoprosencephaly pathologies
Title: Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.
interferes with BMP-mediated hepcidin expression and may act with GDF15 to dysregulate iron homeostasis in thalassemia syndromes.
Title: Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells.
Tsg functions as an agonist synergizing with TGF-beta to inhibit T-cell activation.
Title: Twisted gastrulation (Tsg) is regulated by Tob and enhances TGF-beta signaling in activated T lymphocytes.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
GWAS of dental caries patterns in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heparin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transforming growth factor beta binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in camera-type eye development	IEA Inferred from Electronic Annotation more info
involved_in chondrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in forebrain development	IEA Inferred from Electronic Annotation more info
involved_in hemopoiesis	IEA Inferred from Electronic Annotation more info
involved_in mesoderm formation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of CD4-positive, alpha-beta T cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of CD4-positive, alpha-beta T cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cytokine production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in ossification	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in salivary gland morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: twisted gastrulation protein homolog 1

Names: twisted gastrulation homolog 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.