Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64114
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane BAX inhibitor motif containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMBIM1
Synonyms (NCBI Gene) Gene synonyms aliases
LFG3, MST100, MSTP100, PP1201, RECS1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q35
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004039 hsa-miR-124-3p Microarray 15685193
MIRT004039 hsa-miR-124-3p Microarray 18668037
MIRT041366 hsa-miR-193b-3p CLASH 23622248
MIRT1427702 hsa-miR-1277 CLIP-seq
MIRT1427703 hsa-miR-4286 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 25764978
GO:0005123 Function Death receptor binding IDA 21107705
GO:0005262 Function Calcium channel activity IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005764 Component Lysosome IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610364 23410 ENSG00000135926
Protein
UniProt ID Q969X1
Protein name Protein lifeguard 3 (Protein RECS1 homolog) (Transmembrane BAX inhibitor motif-containing protein 1)
Protein function Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01027 Bax1-I 96 307 Inhibitor of apoptosis-promoting Bax1 Family
Sequence
Sequence length 311
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neutrophil degranulation
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Early onset colorectal cancer, Colorectal cancer N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Ulcerative colitis Ulcerative colitis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 32170005
Colorectal Neoplasms Associate 32170005
Neoplasms Associate 22904677
Non alcoholic Fatty Liver Disease Associate 34099068