Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
578
Gene name Gene Name - the full gene name approved by the HGNC.
BCL2 antagonist/killer 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BAK1
Synonyms (NCBI Gene) Gene synonyms aliases
BAK, BAK-LIKE, BCL2L7, CDN1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mito
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005350 hsa-miR-125a-5p Flow, Luciferase reporter assay, qRT-PCR, Western blot 20616003
MIRT002394 hsa-miR-125b-5p Luciferase reporter assay, qRT-PCR, Western blot 18056640
MIRT002394 hsa-miR-125b-5p Luciferase reporter assay, qRT-PCR, Western blot 21823019
MIRT002394 hsa-miR-125b-5p Luciferase reporter assay, qRT-PCR, Western blot 21823019
MIRT002394 hsa-miR-125b-5p Luciferase reporter assay, qRT-PCR, Western blot 21823019
Transcription factors
Transcription factor Regulation Reference
WWTR1 Activation 22470139
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001782 Process B cell homeostasis IEA
GO:0001783 Process B cell apoptotic process IEA
GO:0001836 Process Release of cytochrome c from mitochondria IDA 9843949, 16199525
GO:0001836 Process Release of cytochrome c from mitochondria IGI 21041309
GO:0001974 Process Blood vessel remodeling IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600516 949 ENSG00000030110
Protein
UniProt ID Q16611
Protein name Bcl-2 homologous antagonist/killer (Apoptosis regulator BAK) (Bcl-2-like protein 7) (Bcl2-L-7)
Protein function Plays a role in the mitochondrial apoptotic process. Upon arrival of cell death signals, promotes mitochondrial outer membrane (MOM) permeabilization by oligomerizing to form pores within the MOM. This releases apoptogenic factors into the cytos
PDB 1BXL , 2IMS , 2IMT , 2JBY , 2JCN , 2LP8 , 2M5B , 2XPX , 2YV6 , 3I1H , 3QBR , 4D2L , 4U2U , 4U2V , 4UF1 , 5AJK , 5FMI , 5FMK , 5VWV , 5VWW , 5VWX , 5VWY , 5VWZ , 5VX0 , 5VX1 , 6ODH , 6UXM , 6UXN , 6UXO , 6UXP , 6UXQ , 6UXR , 7K02 , 7LK4 , 7M5A , 7M5B , 7OFM , 7OFO , 8CZF , 8CZG , 8CZH , 8GSV , 8IGC , 8IVB , 8SRX , 8SRY , 8UKY , 8Y1Y , 8Y1Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00452 Bcl-2 78 177 Apoptosis regulator proteins, Bcl-2 family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in a wide variety of tissues, with highest levels in the heart and skeletal muscle.
Sequence
MASGQGPGPPRQECGEPALPSASEEQVAQDTEEVFRSYVFYRHQQEQEAEGVAAPADPEM
VTLPLQPSSTMGQVGRQLAIIGDDINRRYDSEFQTMLQHLQPTAENAYEYFTKIATSLFE
SGINWGRVVALLGFGYRLALHVYQHGLTGFLGQVTRFVVDFMLHHCIARWIAQRGGW
VAA
LNLGNGPILNVLVVLGVVLLGQFVVRRFFKS
Sequence length 211
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Platinum drug resistance
Protein processing in endoplasmic reticulum
Apoptosis
Apoptosis - multiple species
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Salmonella infection
Hepatitis C
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Transcriptional misregulation in cancer
Viral carcinogenesis
MicroRNAs in cancer
Colorectal cancer
Pancreatic cancer
Endometrial cancer
Glioma
Thyroid cancer
Basal cell carcinoma
Melanoma
Chronic myeloid leukemia
Small cell lung cancer
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  Activation and oligomerization of BAK protein
Release of apoptotic factors from the mitochondria
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colonic neoplasms Malignant tumor of colon, Colonic Neoplasms rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 18349538
Multiple myeloma Multiple Myeloma rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962
View all (38 more)
28112199
Unknown
Disease term Disease name Evidence References Source
Myocardial infarction Myocardial Infarction 29122578 ClinVar
Nasopharyngeal carcinoma Nasopharyngeal carcinoma These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes. 20512145 ClinVar, CBGDA
Testicular Germ Cell Tumor Testicular Germ Cell Tumor GWAS
Lymphocytic Leukemia Lymphocytic Leukemia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35029906, 37337018, 38167084
Age Related Hearing Impairment 1 Stimulate 27555755
Alzheimer Disease Stimulate 17712163
Anemia Refractory Associate 12111784
Arthritis Rheumatoid Associate 27898717
Autoimmune Diseases Associate 9647638
Autoimmune Lymphoproliferative Syndrome Associate 17218385, 23443079
Barrett Esophagus Associate 30404157
Bipolar Disorder Associate 28463235
Breast Neoplasms Associate 11340162, 12841681, 23875900, 24672785, 26406239, 26503209, 26662313, 30592293, 32746451, 39300389