Human Gene BOK (ENST00000318407.5_4) from GENCODE V47lift37
  Description: BCL2 family apoptosis regulator BOK (from RefSeq NM_032515.5)
Gencode Transcript: ENST00000318407.5_4
Gencode Gene: ENSG00000176720.6_10
Transcript (Including UTRs)
   Position: hg19 chr2:242,498,160-242,513,546 Size: 15,387 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr2:242,498,899-242,511,837 Size: 12,939 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:242,498,160-242,513,546)mRNA (may differ from genome)Protein (212 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BOK_HUMAN
DESCRIPTION: RecName: Full=Bcl-2-related ovarian killer protein; Short=hBOK; AltName: Full=Bcl-2-like protein 9; Short=Bcl2-L-9;
FUNCTION: May play a role in apoptosis.
TISSUE SPECIFICITY: Expressed in brain, liver, appendix and lymphoid tissues.
SIMILARITY: Belongs to the Bcl-2 family.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BOKID824ch2q37.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 95.46 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 1138.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -158.60278-0.571 Picture PostScript Text
3' UTR -794.401709-0.465 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002475 - Bcl2-like
IPR026298 - Blc2_fam
IPR026309 - BOK

Pfam Domains:
PF00452 - Apoptosis regulator proteins, Bcl-2 family

SCOP Domains:
56854 - Bcl-2 inhibitors of programmed cell death

ModBase Predicted Comparative 3D Structure on Q9UMX3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0031625 ubiquitin protein ligase binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
GO:0051400 BH domain binding

Biological Process:
GO:0001836 release of cytochrome c from mitochondria
GO:0006915 apoptotic process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0006921 cellular component disassembly involved in execution phase of apoptosis
GO:0007420 brain development
GO:0008283 cell proliferation
GO:0008584 male gonad development
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c
GO:0010506 regulation of autophagy
GO:0042981 regulation of apoptotic process
GO:0043065 positive regulation of apoptotic process
GO:0043524 negative regulation of neuron apoptotic process
GO:0048709 oligodendrocyte differentiation
GO:0051259 protein oligomerization
GO:0051402 neuron apoptotic process
GO:0051480 regulation of cytosolic calcium ion concentration
GO:0051902 negative regulation of mitochondrial depolarization
GO:0060546 negative regulation of necroptotic process
GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator
GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand
GO:1900119 positive regulation of execution phase of apoptosis
GO:1901029 negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway
GO:1901030 positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway
GO:1901382 regulation of chorionic trophoblast cell proliferation
GO:1902237 positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
GO:1903899 positive regulation of PERK-mediated unfolded protein response
GO:1904708 regulation of granulosa cell apoptotic process
GO:2001244 positive regulation of intrinsic apoptotic signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005640 nuclear outer membrane
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005743 mitochondrial inner membrane
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031901 early endosome membrane
GO:0031966 mitochondrial membrane
GO:0032588 trans-Golgi network membrane
GO:0033106 cis-Golgi network membrane
GO:0055038 recycling endosome membrane


-  Descriptions from all associated GenBank mRNAs
  AF174487 - Homo sapiens BCL-2-related ovarian killer protein (BOK) mRNA, complete cds.
BC006203 - Homo sapiens BCL2-related ovarian killer, mRNA (cDNA clone IMAGE:3528347).
BC017214 - Homo sapiens BCL2-related ovarian killer, mRNA (cDNA clone IMAGE:4120781), partial cds.
JD186556 - Sequence 167580 from Patent EP1572962.
JD309983 - Sequence 291007 from Patent EP1572962.
AB463438 - Synthetic construct DNA, clone: pF1KB5574, Homo sapiens BOK gene for BCL2-related ovarian killer, without stop codon, in Flexi system.
DQ890726 - Synthetic construct clone IMAGE:100003356; FLH165498.01X; RZPDo839D02160D Bcl-2-related ovarian killer protein-like (BOKL) gene, encodes complete protein.
DQ893241 - Synthetic construct clone IMAGE:100005871; FLH195532.01X; RZPDo839D06152D BCL2-related ovarian killer (BOK) gene, encodes complete protein.
DQ896571 - Synthetic construct Homo sapiens clone IMAGE:100011031; FLH195528.01L; RZPDo839D06151D BCL2-related ovarian killer (BOK) gene, encodes complete protein.
BT007272 - Homo sapiens BCL2-related ovarian killer mRNA, complete cds.
JD144204 - Sequence 125228 from Patent EP1572962.
JD221648 - Sequence 202672 from Patent EP1572962.
JD537736 - Sequence 518760 from Patent EP1572962.
JD298644 - Sequence 279668 from Patent EP1572962.
JD486900 - Sequence 467924 from Patent EP1572962.
JD095606 - Sequence 76630 from Patent EP1572962.
JD170608 - Sequence 151632 from Patent EP1572962.
JD170608 - Sequence 151632 from Patent EP1572962.
JD170608 - Sequence 151632 from Patent EP1572962.
JD227004 - Sequence 208028 from Patent EP1572962.
JD451345 - Sequence 432369 from Patent EP1572962.
JD159840 - Sequence 140864 from Patent EP1572962.
AK095022 - Homo sapiens cDNA FLJ37703 fis, clone BRHIP2017315.
JD473098 - Sequence 454122 from Patent EP1572962.
JD248432 - Sequence 229456 from Patent EP1572962.
JD436867 - Sequence 417891 from Patent EP1572962.
JD335245 - Sequence 316269 from Patent EP1572962.
JD397578 - Sequence 378602 from Patent EP1572962.
JD227965 - Sequence 208989 from Patent EP1572962.
MK328045 - Homo sapiens clone V5 bcl-2-related ovarian killer protein isoform 3 (BOK) mRNA, complete cds.
MK328046 - Homo sapiens clone V7 BCL2 family apoptosis regulator BOK (BOK), complete sequence.
MK328047 - Homo sapiens clone V9 bcl-2-related ovarian killer protein isoform 4 (BOK) mRNA, complete cds.
MK354017 - Homo sapiens clone V11 bcl-2-related ovarian killer protein isoform 5 (BOK) mRNA, complete cds.
MK354019 - Homo sapiens clone V13 BCL2 family apoptosis regulator BOK (BOK), complete sequence.
MK328044 - Homo sapiens clone V2 bcl-2-related ovarian killer protein isoform 1 (BOK) mRNA, complete cds.
MK354018 - Homo sapiens clone V12 bcl-2-related ovarian killer protein isoform 5 (BOK) mRNA, complete cds.
MK354020 - Homo sapiens clone V14 BCL2 family apoptosis regulator BOK (BOK), complete sequence.
MK810726 - Homo sapiens BCL-2-related ovarian killer protein isoform 6 transcript variant 16 (BOK) mRNA, complete cds.
MK810729 - Homo sapiens nonfunctional BCL2 family apoptosis regulator transcript variant 19 (BOK) mRNA, partial sequence.
MK810732 - Homo sapiens BCL-2-related ovarian killer protein isoform 7 transcript variant 22 (BOK) mRNA, complete cds.
MK810734 - Homo sapiens nonfunctional BCL2 family apoptosis regulator transcript variant 25 (BOK) mRNA, partial sequence.
MK810727 - Homo sapiens BCL-2-related ovarian killer protein isoform 6 transcript variant 17 (BOK) mRNA, complete cds.
MK810730 - Homo sapiens nonfunctional BCL2 family apoptosis regulator transcript variant 20 (BOK) mRNA, partial sequence.
MK810735 - Homo sapiens nonfunctional BCL2 family apoptosis regulator transcript variant 26 (BOK) mRNA, partial sequence.
MK810728 - Homo sapiens BCL-2-related ovarian killer protein isoform 6 transcript variant 18 (BOK) mRNA, complete cds.
MK810731 - Homo sapiens nonfunctional BCL2 family apoptosis regulator transcript variant 21 (BOK) mRNA, partial sequence.
MK810733 - Homo sapiens BCL-2-related ovarian killer protein isoform 7 transcript variant 24 (BOK) mRNA, complete cds.
MK810736 - Homo sapiens nonfunctional BCL2 family apoptosis regulator transcript variant 27 (BOK) mRNA, partial sequence.

-  Other Names for This Gene
  Alternate Gene Symbols: BCL2L9, BOK , BOK_HUMAN, ENST00000318407.1, ENST00000318407.2, ENST00000318407.3, ENST00000318407.4, NM_032515, Q9UMX3, uc317qly.1, uc317qly.2
UCSC ID: ENST00000318407.5_4
RefSeq Accession: NM_032515.5
Protein: Q9UMX3 (aka BOK_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.