Gene Gene information from NCBI Gene database.
Entrez ID 757
Gene name Transmembrane protein 50B
Gene symbol TMEM50B
Synonyms (NCBI Gene)
C21orf4HCVP7TP3
Chromosome 21
Chromosome location 21q22.11
miRNA miRNA information provided by mirtarbase database.
594
miRTarBase ID miRNA Experiments Reference
MIRT029204 hsa-miR-26b-5p Microarray 19088304
MIRT465864 hsa-miR-5692a PAR-CLIP 23592263
MIRT465863 hsa-miR-7-1-3p PAR-CLIP 23592263
MIRT465862 hsa-miR-7-2-3p PAR-CLIP 23592263
MIRT465861 hsa-miR-154-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617894 1280 ENSG00000142188
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P56557
Protein name Transmembrane protein 50B (HCV p7-trans-regulated protein 3)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05255 UPF0220 4 157 Uncharacterised protein family (UPF0220) Family
Sequence
Sequence length 158
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
IMMUNODEFICIENCY 28 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTERFERON GAMMA RECEPTOR DEFICIENCY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Q Fever Associate 40056764
★☆☆☆☆
Found in Text Mining only
Thyroid Nodule Associate 22958914
★☆☆☆☆
Found in Text Mining only