BCL2A1 (BCL2 related protein A1)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
597
Gene name Gene Name - the full gene name approved by the HGNC.
BCL2 related protein A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BCL2A1
Synonyms (NCBI Gene) Gene synonyms aliases
ACC-1, ACC-2, ACC1, ACC2, BCL2L5, BFL1, GRS, HBPA1
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeosta
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT017218 hsa-miR-335-5p Microarray 18185580
MIRT021264 hsa-miR-146a-5p Microarray 18057241
MIRT818591 hsa-miR-182 CLIP-seq
MIRT818592 hsa-miR-3074-3p CLIP-seq
MIRT818593 hsa-miR-4704-3p CLIP-seq
Transcription factors
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(7)
Transcription factor Regulation Reference
HDAC1 Activation 17000776
MITF Repression 23447565
NFKB1 Activation 11880364;12665576;19343319
NFKB1 Unknown 10733571;17000776
REL Activation 11880364
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0001836 Process Release of cytochrome c from mitochondria IBA
GO:0005515 Function Protein binding IPI 10753914, 16697956, 17428862, 25416956, 31515488, 32296183, 34245648
GO:0005737 Component Cytoplasm IDA 34245648
GO:0005737 Component Cytoplasm IEA
GO:0005741 Component Mitochondrial outer membrane IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
601056 991 ENSG00000140379
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Q16548
Protein name Bcl-2-related protein A1 (Bcl-2-like protein 5) (Bcl2-L-5) (Hemopoietic-specific early response protein) (Protein BFL-1) (Protein GRS)
Protein function Retards apoptosis induced by IL-3 deprivation. May function in the response of hemopoietic cells to external signals and in maintaining endothelial survival during infection (By similarity). Can inhibit apoptosis induced by serum starvation in t
PDB 2VM6 , 3I1H , 3MQP , 4ZEQ , 5UUK , 5UUL , 5UUP , 5WHH , 5WHI , 6E3I , 6E3J , 6MBB , 6MBC , 6RJP , 6VO4 , 8RPO , 9FKY , 9FKZ , 9FL0 , 9GIP , 9GIQ , 9GIR , 9GIS , 9GIT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00452 Bcl-2 37 → 140 Apoptosis regulator proteins, Bcl-2 family Family
Tissue specificity TISSUE SPECIFICITY: Seems to be restricted to the hematopoietic compartment. Expressed in peripheral blood, spleen, and bone marrow, at moderate levels in lung, small intestine and testis, at a minimal levels in other tissues. Also found in vascular smoot
Sequence 
MTDCEFGYIYRLAQDYLQCVLQIPQPGSGPSKTSRVLQNVAFSVQKEVEKNLKSCLDNVN
VVSVDTARTLFNQVMEKEFEDGIINWGRIVTIFAFEGILIKKLLRQQIAPDVDTYKEISY
FVAEFIMNNTGEWIRQNGGWENGFVKKFEPKSGWMTFLEVTGKICEMLSLLKQYC
Sequence length 175
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)
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (2)
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
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Sclerosing Cholangitis Primary sclerosing cholangitis N/A N/A GWAS
Show/Hide Text Mining Associations (121)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 9488635
Acute Coronary Syndrome Associate 23535507
Airway Obstruction Associate 36171630
alpha Thalassemia Associate 11074535, 14508795, 14978697, 15329491, 25730315, 3337900, 6255436, 6894931, 8781536
alpha Thalassemia Stimulate 25730315
Anemia Associate 28011635
Anemia Sickle Cell Associate 14978697, 24599433, 8781536
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis Associate 22403660
Aortic Aneurysm Associate 2243125
Aortic Aneurysm Familial Thoracic 1 Associate 2243125