Gene Gene information from NCBI Gene database.
Entrez ID 57045
Gene name Twisted gastrulation BMP signaling modulator 1
Gene symbol TWSG1
Synonyms (NCBI Gene)
TSG
Chromosome 18
Chromosome location 18p11.22
miRNA miRNA information provided by mirtarbase database.
339
miRTarBase ID miRNA Experiments Reference
MIRT022445 hsa-miR-124-3p Microarray 18668037
MIRT040515 hsa-miR-577 CLASH 23622248
MIRT664755 hsa-miR-21-3p HITS-CLIP 23824327
MIRT664754 hsa-miR-3591-3p HITS-CLIP 23824327
MIRT649724 hsa-miR-892b HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0001503 Process Ossification IEA
GO:0001707 Process Mesoderm formation IEA
GO:0001818 Process Negative regulation of cytokine production IDA 17164348
GO:0002062 Process Chondrocyte differentiation IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605049 12429 ENSG00000128791
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9GZX9
Protein name Twisted gastrulation protein homolog 1
Protein 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 ac
PDB 8BWA , 8BWD , 8BWI , 8BWL , 8BWM , 8BWN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04668 Tsg 86 222 Twisted gastrulation (Tsg) protein conserved region Family
Sequence
Sequence length 223
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ESOPHAGEAL SQUAMOUS CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Medulloblastoma Medulloblastoma BEFREE 14688019
★☆☆☆☆
Found in Text Mining only
Alobar Holoprosencephaly Alobar Holoprosencephaly CTD_human_DG 15013800
★☆☆☆☆
Found in Text Mining only
Arhinencephaly Arrhinencephaly CTD_human_DG 15013800
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 17164348 Associate
★☆☆☆☆
Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE Lymphocytic Leukemia BEFREE 14499696
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 11414476, 15354217, 18483325
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21283676, 34329471 Associate
★☆☆☆☆
Found in Text Mining only
Cancer of Nasopharynx Nasopharyngeal Cancer BEFREE 15036368
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 20193080, 20626849, 25119593, 31013839 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 23055343
★☆☆☆☆
Found in Text Mining only