Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 23786
Gene name BCL2 like 13
Gene symbol BCL2L13
Synonyms (NCBI Gene)
BCL-RAMBOBcl2-L-13MIL1
Chromosome 22
Chromosome location 22q11.21
Summary This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by Re
miRNA miRNA information provided by mirtarbase database.
628 Show/Hide all (628)
miRTarBase ID miRNA Experiments Reference
MIRT024899 hsa-miR-215-5p Microarray 19074876
MIRT025555 hsa-miR-34a-5p Sequencing 20371350
MIRT025589 hsa-miR-10a-5p Sequencing 20371350
MIRT026746 hsa-miR-192-5p Microarray 19074876
MIRT046068 hsa-miR-125b-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ZIC1 Activation 20713527
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21 Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0000423 Process Mitophagy IEA
GO:0005515 Function Protein binding IPI 16189514, 17360363, 25416956, 25910212, 26871637, 28514442, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619822 17164 ENSG00000099968
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXK5
Protein name Bcl-2-like protein 13 (Bcl2-L-13) (Bcl-rambo) (Protein Mil1)
Protein function May promote the activation of caspase-3 and apoptosis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00452 Bcl-2 104 → 200 Apoptosis regulator proteins, Bcl-2 family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous, with the highest levels of expression in heart, placenta and pancreas.
Sequence
MASSSTVPLGFHYETKYVVLSYLGLLSQEKLQEQHLSSPQGVQLDIASQSLDQEILLKVK
TEIEEELKSLDKEISEAFTSTGFDRHTSPVFSPANPESSMEDCLAHLGEKVSQELKEPLH
KALQMLLSQPVTYQAFRECTLETTVHASGWNKILVPLVLLRQMLLELTRRGQEPLSALLQ
FGVTYLEDYSAEYIIQQGGW
GTVFSLESEEEEYPGITAEDSNDIYILPSDNSGQVSPPES
PTVTTSWQSESLPVSLSASQSWHTESLPVSLGPESWQQIAMDPEEVKSLDSNGAGEKSEN
NSSNSDIVHVEKEEVPEGMEEAAVASVVLPARELQEALPEAPAPLLPHITATSLLGTREP
DTEVITVEKSSPATSLFVELDEEEVKAATTEPTEVEEVVPALEPTETLLSEKEINAREES
LVEELSPASEKKPVPPSEGKSRLSPAGEMKPMPLSEGKSILLFGGAAAVAILAVAIGVAL
ALRKK
Sequence length 485
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway
Mitophagy - animal
Legionellosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
Ovarian serous cystadenocarcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (16)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 20109966
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood asthma Asthma GWASCAT_DG 29551627
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 24706805
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 24706805 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 37660127 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 24706805
★★★★★
★☆☆☆☆
Found in Text Mining only
Hematologic Neoplasms Hematologic Neoplasms BEFREE 24706805
★★★★★
★☆☆☆☆
Found in Text Mining only
Hematologic Neoplasms Hematologic neoplasm Pubtator 24706805 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ischemic stroke Ischemic Stroke BEFREE 31200256
★★★★★
★☆☆☆☆
Found in Text Mining only
Lafora Disease Lafora Disease BEFREE 29645350
★★★★★
★☆☆☆☆
Found in Text Mining only