Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83596
Gene name Gene Name - the full gene name approved by the HGNC.
BCL2 like 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BCL2L12
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610837 13787 ENSG00000126453
Protein
UniProt ID 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
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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
Vitiligo Vitiligo N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 18930135, 19376117, 24339738
Carcinoma Stimulate 21152697
Colorectal Neoplasms Associate 19376117, 33238574, 35395711
Glioblastoma Associate 18669646, 19376117, 33692132
Glioma Associate 18669646, 19544381, 29749471
Leukemia Lymphocytic Chronic B Cell Stimulate 21737576
Leukemia Myeloid Acute Associate 34319051
Melanoma Associate 23901115
Nasopharyngeal Carcinoma Associate 21152697, 23777485, 31289279
Nasopharyngeal Neoplasms Associate 21152697