Gene Gene information from NCBI Gene database.
Entrez ID 83596
Gene name BCL2 like 12
Gene symbol BCL2L12
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19q13.33
Summary This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppre
miRNA miRNA information provided by mirtarbase database.
67
miRTarBase ID miRNA Experiments Reference
MIRT030470 hsa-miR-24-3p qRT-PCR;Microarray 19748357
MIRT040770 hsa-miR-18a-3p CLASH 23622248
MIRT037864 hsa-miR-455-3p CLASH 23622248
MIRT037475 hsa-miR-744-5p CLASH 23622248
MIRT253107 hsa-miR-548e-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0002039 Function P53 binding IEA
GO:0005515 Function Protein binding IPI 19376117, 29749471, 33961781
GO:0005634 Component Nucleus IDA 20837658
GO:0006915 Process Apoptotic process IEA
GO:0016020 Component Membrane HDA 19946888
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610837 13787 ENSG00000126453
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HB09
Protein name Bcl-2-like protein 12 (Bcl2-L-12) (Bcl-2-related proline-rich protein)
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed mainly in breast, thymus, prostate, fetal liver, colon, placenta, pancreas, small intestine, spinal cord, kidney, and bone marrow and to a lesser extent in many other tissues. Isoform 2 is primarily expressed in skeletal musc
Sequence
MGRPAGLFPPLCPFLGFRPEACWERHMQIERAPSVPPFLRWAGYRPGPVRRRGKVELIKF
VRVQWRRPQVEWRRRRWGPGPGASMAGSEELGLREDTLRVLAAFLRRGEAAGSPVPTPPR
SPAQEEPTDFLSRLRRCLPCSLGRGAAPSESPRPCSLPIRPCYGLEPGPATPDFYALVAQ
RLEQLVQEQLKSPPSPELQGPPSTEKEAILRRLVALLEEEAEVINQKLASDPALRSKLVR
LSSDSFARLVELFCSRDDSSRPSRACPGPPPPSPEPLARLALAMELSRRVAGLGGTLAGL
SVEHVHSFTPWIQAHGGWEGILAVSPVDLNLPLD
Sequence length 334
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SKIN CANCER 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
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 28426164, 30694585, 30972189
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 30281927, 30942442, 31410196
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 23790536
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 12783122, 15493871, 16647810, 17404015, 18930135, 22287600, 24339738, 25230343, 26082034, 28960310, 30325729, 31547718
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18930135, 19376117, 24339738 Associate
★☆☆☆☆
Found in Text Mining only
Cancer of Nasopharynx Nasopharyngeal Cancer BEFREE 29621521
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma Pubtator 21152697 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 23790536
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31572459
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 30016275
★☆☆☆☆
Found in Text Mining only