Gene Gene information from NCBI Gene database.
Entrez ID 440026
Gene name Transmembrane protein 41B
Gene symbol TMEM41B
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11p15.4
miRNA miRNA information provided by mirtarbase database.
970
miRTarBase ID miRNA Experiments Reference
MIRT005133 hsa-miR-30a-5p pSILAC 18668040
MIRT018389 hsa-miR-335-5p Microarray 18185580
MIRT027755 hsa-miR-98-5p Microarray 19088304
MIRT005133 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT029879 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000045 Process Autophagosome assembly IMP 30093494, 30126924, 30933966
GO:0005515 Function Protein binding IPI 30093494, 30177828, 30352685
GO:0005737 Component Cytoplasm IEA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620271 28948 ENSG00000166471
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5BJD5
Protein name Transmembrane protein 41B (Protein stasimon)
Protein function Phospholipid scramblase involved in lipid homeostasis and membrane dynamics processes (PubMed:33850023, PubMed:33929485, PubMed:34015269). Has phospholipid scramblase activity toward cholesterol and phosphatidylserine, as well as phosphatidyleth
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09335 SNARE_assoc 129 250 SNARE associated Golgi protein Family
Sequence
MAKGRVAERSQLGAHHTTPVGDGAAGTRGLAAPGSRDHQKEKSWVEAGSARMSLLILVSI
FLSAAFVMFLVYKNFPQLSEEERVNMKVPRDMDDAKALGKVLSKYKDTFYVQVLVAYFAT
YIFLQTFAIPGSIFLSILSGFLYPFPLALFLVCLCSGLGASFCYMLSYLVGRPVVYKYLT
EKAVKWSQQVERHREHLINYIIFLRITPFLPNWFINITSPVINVPLKVFFIGTFLGVAPP
SFVAIKAGTT
LYQLTTAGEAVSWNSIFILMILAVLSILPAIFQKKLKQKFE
Sequence length 291
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA 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
Malignant neoplasm of prostate Prostate cancer BEFREE 30861403
★☆☆☆☆
Found in Text Mining only
Motor neuron atrophy Motor neuron atrophy BEFREE 31851921
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 30861403
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Disorders Neurodegenerative Disorders BEFREE 30352685
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 30861403
★☆☆☆☆
Found in Text Mining only
Spinal Muscular Atrophy Spinal Muscular Atrophy BEFREE 28635376, 30352685, 31851921
★☆☆☆☆
Found in Text Mining only