Gene Gene information from NCBI Gene database.
Entrez ID 55273
Gene name Transmembrane protein 100
Gene symbol TMEM100
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q22
miRNA miRNA information provided by mirtarbase database.
271
miRTarBase ID miRNA Experiments Reference
MIRT027000 hsa-miR-103a-3p Sequencing 20371350
MIRT027944 hsa-miR-93-5p Sequencing 20371350
MIRT031519 hsa-miR-16-5p Sequencing 20371350
MIRT640460 hsa-miR-6870-3p HITS-CLIP 23824327
MIRT640459 hsa-miR-627-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001570 Process Vasculogenesis IEA
GO:0001701 Process In utero embryonic development IEA
GO:0003197 Process Endocardial cushion development IEA
GO:0003198 Process Epithelial to mesenchymal transition involved in endocardial cushion formation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616334 25607 ENSG00000166292
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NV29
Protein name Transmembrane protein 100
Protein function Plays a role during embryonic arterial endothelium differentiation and vascular morphogenesis through the ACVRL1 receptor-dependent signaling pathway upon stimulation by bone morphogenetic proteins, such as GDF2/BMP9 and BMP10. Involved in the r
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16311 TMEM100 1 133 Transmembrane protein 100 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in neurons of the myenteric and submucosal plexuses in the gastric body, jejunum and proximal colon. Expressed in arterial endothelial cells and neurons of the central nervous system and peripheral nervous system. Expressed i
Sequence
Sequence length 134
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
THYROID CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
THYROID CARCINOMA GWAS catalog
★★☆☆☆
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
Carcinoma of lung Lung carcinoma BEFREE 22223368
★☆☆☆☆
Found in Text Mining only
Congenital arteriovenous malformation Congenital Arteriovenous Malformation BEFREE 26645978
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 28560005, 31188741
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 22223368
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 31188741
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 28560005
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 26045113, 28560005, 31188741
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 28560005, 31188741
★☆☆☆☆
Found in Text Mining only
Peritoneal Neoplasms Peritoneal neoplasm Pubtator 34476575 Associate
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 35358005 Inhibit
★☆☆☆☆
Found in Text Mining only