BOK (BCL2 family apoptosis regulator BOK) - Rat Genome Database

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Gene: BOK (BCL2 family apoptosis regulator BOK) Homo sapiens
Analyze
Symbol: BOK
Name: BCL2 family apoptosis regulator BOK
RGD ID: 737138
HGNC Page HGNC
Description: Predicted to enable protein heterodimerization activity and protein homodimerization activity. Involved in several processes, including activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic signaling pathway; and regulation of apoptotic process. Located in several cellular components, including Golgi apparatus; endoplasmic reticulum membrane; and mitochondrial inner membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bcl-2-like protein 9; bcl-2-related ovarian killer protein; BCL2 related ovarian killer; bcl2-L-9; BCL2-related ovarian killer; BCL2L9; BOK, BCL2 family apoptosis regulator; BOKL; hBOK; MGC4631
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,551,424 - 241,574,131 (+)EnsemblGRCh38hg38GRCh38
GRCh382241,558,745 - 241,574,131 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,498,160 - 242,513,546 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362242,146,865 - 242,162,226 (+)NCBINCBI36hg18NCBI36
Build 342242,218,181 - 242,233,541NCBI
Celera2236,166,128 - 236,181,243 (+)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2234,252,352 - 234,267,504 (+)NCBIHuRef
CHM1_12242,504,201 - 242,519,152 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(S)-nicotine  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
1H-pyrazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chromium(6+)  (ISO)
cisplatin  (ISO)
clobetasol  (ISO)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (ISO)
diazinon  (ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diepoxybutane  (EXP)
dimethylarsinic acid  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
endosulfan  (ISO)
entinostat  (ISO)
epichlorohydrin  (EXP)
ethanol  (ISO)
ferroheme b  (ISO)
flavonoids  (ISO)
folic acid  (EXP,ISO)
furan  (ISO)
furosemide  (ISO)
heme b  (ISO)
hydrogen peroxide  (EXP)
isoprenaline  (ISO)
methapyrilene  (EXP)
methoxychlor  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monobenzyl phthalate  (ISO)
monoethyl phthalate  (ISO)
morphine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (ISO)
nicotine  (ISO)
p-menthan-3-ol  (EXP)
paracetamol  (EXP,ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
propylparaben  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
thimerosal  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of cysteine-type endopeptidase activity involved in apoptotic process  (IMP)
activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c  (ISS)
apoptotic process  (IDA)
brain development  (IEA,ISO)
cellular component disassembly involved in execution phase of apoptosis  (ISS)
extrinsic apoptotic signaling pathway in absence of ligand  (IBA)
intrinsic apoptotic signaling pathway by p53 class mediator  (IMP)
intrinsic apoptotic signaling pathway in response to DNA damage  (IBA)
male gonad development  (IEA,ISO)
negative regulation of mitochondrial depolarization  (IEA)
negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway  (IEA)
negative regulation of necroptotic process  (IEA)
negative regulation of neuron apoptotic process  (IEA)
neuron apoptotic process  (IEA,ISO)
oligodendrocyte differentiation  (IEA,ISO)
positive regulation of apoptotic process  (IDA,ISO)
positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  (ISS)
positive regulation of execution phase of apoptosis  (IMP)
positive regulation of intrinsic apoptotic signaling pathway  (ISS)
positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway  (ISS)
positive regulation of PERK-mediated unfolded protein response  (ISS)
protein complex oligomerization  (ISS)
regulation of autophagy  (IMP)
regulation of chorionic trophoblast cell proliferation  (IDA)
regulation of cytosolic calcium ion concentration  (IEA)
regulation of granulosa cell apoptotic process  (IMP)
release of cytochrome c from mitochondria  (IDA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:9535847   PMID:10579309   PMID:10811653   PMID:11034351   PMID:12477932   PMID:15102863   PMID:15146197   PMID:15342556   PMID:15489334   PMID:15775999   PMID:15868100   PMID:16302269  
PMID:16772296   PMID:19095301   PMID:19287972   PMID:19942931   PMID:20171287   PMID:20673843   PMID:21873635   PMID:21900206   PMID:22623531   PMID:23535732   PMID:23884412   PMID:24113155  
PMID:24806027   PMID:26186194   PMID:27076518   PMID:27505430   PMID:28514442   PMID:28536268   PMID:28744854   PMID:29374142   PMID:29463805   PMID:29509190   PMID:29768206   PMID:29985192  
PMID:30976095   PMID:32513696   PMID:32814053   PMID:33093207   PMID:33291826  


Genomics

Comparative Map Data
BOK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,551,424 - 241,574,131 (+)EnsemblGRCh38hg38GRCh38
GRCh382241,558,745 - 241,574,131 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,498,160 - 242,513,546 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362242,146,865 - 242,162,226 (+)NCBINCBI36hg18NCBI36
Build 342242,218,181 - 242,233,541NCBI
Celera2236,166,128 - 236,181,243 (+)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2234,252,352 - 234,267,504 (+)NCBIHuRef
CHM1_12242,504,201 - 242,519,152 (+)NCBICHM1_1
Bok
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39193,613,297 - 93,623,492 (+)NCBIGRCm39mm39
GRCm39 Ensembl193,613,382 - 93,623,486 (+)Ensembl
GRCm38193,685,575 - 93,695,770 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl193,685,660 - 93,695,764 (+)EnsemblGRCm38mm10GRCm38
MGSCv37195,582,271 - 95,592,339 (+)NCBIGRCm37mm9NCBIm37
MGSCv36195,516,100 - 95,526,168 (+)NCBImm8
Celera196,630,738 - 96,640,880 (+)NCBICelera
Cytogenetic Map1DNCBI
Bok
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2994,223,493 - 94,234,476 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl9100,829,552 - 100,840,504 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.09100,829,593 - 100,840,498 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.09100,482,657 - 100,493,563 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4992,970,069 - 92,980,974 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1993,174,837 - 93,185,742 (+)NCBI
Celera991,758,055 - 91,768,960 (+)NCBICelera
Cytogenetic Map9q36NCBI
Bok
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955542224,471 - 232,428 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955542224,471 - 232,401 (-)NCBIChiLan1.0ChiLan1.0
BOK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B247,626,494 - 247,640,238 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B247,626,494 - 247,640,238 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B128,832,458 - 128,847,918 (+)NCBIMhudiblu_PPA_v0panPan3
BOK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12551,449,700 - 51,450,967 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2551,662,160 - 51,671,783 (+)NCBI
ROS_Cfam_1.02551,642,280 - 51,651,918 (+)NCBI
UMICH_Zoey_3.12551,491,666 - 51,501,244 (+)NCBI
UNSW_CanFamBas_1.02551,231,578 - 51,241,142 (+)NCBI
UU_Cfam_GSD_1.02551,507,856 - 51,517,459 (+)NCBI
Bok
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303192,866,849 - 192,874,583 (+)NCBI
SpeTri2.0NW_004936745344,837 - 350,950 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BOK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15140,171,143 - 140,184,124 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115140,171,134 - 140,184,126 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
BOK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110127,621,936 - 127,634,091 (+)NCBI
ChlSab1.1 Ensembl10127,622,149 - 127,635,833 (+)Ensembl
Vero_WHO_p1.0NW_02366604071,688,317 - 71,701,116 (-)NCBI
Bok
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248475,564,671 - 5,573,459 (+)NCBI

Position Markers
RH80183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,513,429 - 242,513,531UniSTSGRCh37
Build 362242,162,102 - 242,162,204RGDNCBI36
Celera2236,181,119 - 236,181,221RGD
Cytogenetic Map2q37.3UniSTS
HuRef2234,267,380 - 234,267,482UniSTS
GeneMap99-GB4 RH Map2747.19UniSTS
RH91690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,512,764 - 242,512,887UniSTSGRCh37
Build 362242,161,437 - 242,161,560RGDNCBI36
Celera2236,180,454 - 236,180,577RGD
Cytogenetic Map2q37.3UniSTS
HuRef2234,266,715 - 234,266,838UniSTS
GeneMap99-GB4 RH Map2747.19UniSTS
D2S2142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,512,817 - 242,512,924UniSTSGRCh37
Build 362242,161,490 - 242,161,597RGDNCBI36
Celera2236,180,507 - 236,180,614RGD
Cytogenetic Map2q37.3UniSTS
HuRef2234,266,768 - 234,266,875UniSTS
RH78529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,513,228 - 242,513,352UniSTSGRCh37
Build 362242,161,901 - 242,162,025RGDNCBI36
Celera2236,180,918 - 236,181,042RGD
Cytogenetic Map2q37.3UniSTS
HuRef2234,267,179 - 234,267,303UniSTS
NCBI RH Map21915.5UniSTS
G42020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,501,763 - 242,501,891UniSTSGRCh37
Build 362242,150,436 - 242,150,564RGDNCBI36
Celera2236,169,699 - 236,169,827RGD
Cytogenetic Map2q37.3UniSTS
HuRef2234,255,746 - 234,255,874UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1067
Count of miRNA genes:430
Interacting mature miRNAs:476
Transcripts:ENST00000318407
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 2224 660 1403 558 284 456 3056 944 3394 393 1408 1536 115 1203 1534 1
Low 200 2109 319 64 903 8 1286 1230 305 24 40 67 58 1 1 1249 2
Below cutoff 5 210 3 482 1 13 14 26 1 6 5 1 5 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC110299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC133528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF174487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG118500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI550157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP332256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU855574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX372066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX395656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX460019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD368092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN279174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN279175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H17007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318407   ⟹   ENSP00000314132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,558,745 - 241,574,131 (+)Ensembl
RefSeq Acc Id: ENST00000641230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,551,424 - 241,562,476 (+)Ensembl
RefSeq Acc Id: NM_032515   ⟹   NP_115904
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,558,745 - 241,574,131 (+)NCBI
GRCh372242,498,146 - 242,513,553 (+)NCBI
Build 362242,146,865 - 242,162,226 (+)NCBI Archive
HuRef2234,252,352 - 234,267,504 (+)NCBI
CHM1_12242,504,201 - 242,519,152 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511696   ⟹   XP_011509998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,559,022 - 241,574,131 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511697   ⟹   XP_011509999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,558,905 - 241,574,131 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004775   ⟹   XP_016860264
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,558,823 - 241,574,131 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004776   ⟹   XP_016860265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,558,992 - 241,574,131 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_115904   ⟸   NM_032515
- UniProtKB: Q9UMX3 (UniProtKB/Swiss-Prot),   A0A024R4A8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509999   ⟸   XM_011511697
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011509998   ⟸   XM_011511696
- Peptide Label: isoform X1
- UniProtKB: Q9UMX3 (UniProtKB/Swiss-Prot),   A0A024R4A8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016860264   ⟸   XM_017004775
- Peptide Label: isoform X2
- UniProtKB: Q9UMX3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860265   ⟸   XM_017004776
- Peptide Label: isoform X2
- UniProtKB: Q9UMX3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000314132   ⟸   ENST00000318407

Promoters
RGD ID:6863362
Promoter ID:EPDNEW_H4846
Type:initiation region
Name:BOK_1
Description:BOK, BCL2 family apoptosis regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4847  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,558,745 - 241,558,805EPDNEW
RGD ID:6863364
Promoter ID:EPDNEW_H4847
Type:initiation region
Name:BOK_2
Description:BOK, BCL2 family apoptosis regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4846  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,559,219 - 241,559,279EPDNEW
RGD ID:6796868
Promoter ID:HG_KWN:38223
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000257268
Position:
Human AssemblyChrPosition (strand)Source
Build 362242,146,726 - 242,147,226 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 copy number loss See cases [RCV000051120] Chr2:236555233..242126245 [GRCh38]
Chr2:237463876..243059659 [GRCh37]
Chr2:237128615..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1 copy number loss See cases [RCV000051133] Chr2:237643996..242126245 [GRCh38]
Chr2:238552639..243059659 [GRCh37]
Chr2:238217378..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 copy number loss See cases [RCV000051163] Chr2:234345842..242126245 [GRCh38]
Chr2:235254486..243059659 [GRCh37]
Chr2:234919225..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 copy number loss See cases [RCV000052674] Chr2:236775572..242065349 [GRCh38]
Chr2:237684215..243007500 [GRCh37]
Chr2:237348954..242656173 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 copy number loss See cases [RCV000052675] Chr2:237526184..241996090 [GRCh38]
Chr2:238434827..242938241 [GRCh37]
Chr2:238099566..242586914 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|See cases [RCV000052700] Chr2:237643996..242065208 [GRCh38]
Chr2:238552639..243007359 [GRCh37]
Chr2:238217378..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:238939181-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|See cases [RCV000052701] Chr2:238939181..242065208 [GRCh38]
Chr2:239860877..243007359 [GRCh37]
Chr2:239525814..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1 copy number loss See cases [RCV000052702] Chr2:240067206..242086301 [GRCh38]
Chr2:241006623..243028452 [GRCh37]
Chr2:240655296..242677125 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1 copy number loss See cases [RCV000052703] Chr2:240444819..242086301 [GRCh38]
Chr2:241384236..243028452 [GRCh37]
Chr2:241032909..242677125 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240506951-242065349)x1 copy number loss See cases [RCV000052704] Chr2:240506951..242065349 [GRCh38]
Chr2:241446368..243007500 [GRCh37]
Chr2:241095041..242656173 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241179464-242065349)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]|See cases [RCV000052705] Chr2:241179464..242065349 [GRCh38]
Chr2:242118879..243007500 [GRCh37]
Chr2:241767552..242656173 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241249295-242086301)x1 copy number loss See cases [RCV000052706] Chr2:241249295..242086301 [GRCh38]
Chr2:242188710..243028452 [GRCh37]
Chr2:241837383..242677125 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241179664-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052707]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052707]|See cases [RCV000052707] Chr2:241179664..242065208 [GRCh38]
Chr2:242119079..243007359 [GRCh37]
Chr2:241767752..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 copy number loss See cases [RCV000052669] Chr2:234172536..242086301 [GRCh38]
Chr2:235081180..243028452 [GRCh37]
Chr2:234745919..242677125 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 copy number loss See cases [RCV000052670] Chr2:234668159..242126245 [GRCh38]
Chr2:235576803..243059659 [GRCh37]
Chr2:235241542..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] Chr2:234906462..242065208 [GRCh38]
Chr2:235815106..243007359 [GRCh37]
Chr2:235479845..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 copy number loss See cases [RCV000052672] Chr2:235268768..242065208 [GRCh38]
Chr2:236177412..243007359 [GRCh37]
Chr2:235842151..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 copy number loss See cases [RCV000052673] Chr2:235741079..242032456 [GRCh38]
Chr2:236649723..242974607 [GRCh37]
Chr2:236314462..242623280 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 copy number gain See cases [RCV000052976] Chr2:235268768..242126245 [GRCh38]
Chr2:236177412..243059659 [GRCh37]
Chr2:235842151..242717069 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 copy number gain See cases [RCV000052977] Chr2:235563664..242086301 [GRCh38]
Chr2:236472308..243028452 [GRCh37]
Chr2:236137047..242677125 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240910571-242126392)x3 copy number gain See cases [RCV000052980] Chr2:240910571..242126392 [GRCh38]
Chr2:241849988..243059659 [GRCh37]
Chr2:241498661..242717216 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234225537-241565907)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|See cases [RCV000052975] Chr2:234225537..241565907 [GRCh38]
Chr2:235134181..242505322 [GRCh37]
Chr2:234798920..242153995 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241522479-242126245)x3 copy number gain See cases [RCV000133843] Chr2:241522479..242126245 [GRCh38]
Chr2:242461894..243059659 [GRCh37]
Chr2:242110567..242717069 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3 copy number gain See cases [RCV000133659] Chr2:238756369..241771051 [GRCh38]
Chr2:239665010..242710466 [GRCh37]
Chr2:239329749..242359139 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241481406-242126245)x1 copy number loss See cases [RCV000134170] Chr2:241481406..242126245 [GRCh38]
Chr2:242420821..243059659 [GRCh37]
Chr2:242069494..242717069 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1 copy number loss See cases [RCV000135842] Chr2:240171137..242065208 [GRCh38]
Chr2:241110554..243007359 [GRCh37]
Chr2:240759227..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 copy number loss See cases [RCV000135864] Chr2:237034476..242065208 [GRCh38]
Chr2:237943119..243007359 [GRCh37]
Chr2:237607858..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 copy number loss See cases [RCV000135570] Chr2:236966763..242065208 [GRCh38]
Chr2:237875406..243007359 [GRCh37]
Chr2:237540145..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1 copy number loss See cases [RCV000135545] Chr2:240507151..242065208 [GRCh38]
Chr2:241446568..243007359 [GRCh37]
Chr2:241095241..242656032 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 copy number loss See cases [RCV000136566] Chr2:237232204..242065208 [GRCh38]
Chr2:238140847..243007359 [GRCh37]
Chr2:237805586..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 copy number loss See cases [RCV000136968] Chr2:235028429..242066108 [GRCh38]
Chr2:235937073..243008259 [GRCh37]
Chr2:235601812..242656932 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 copy number loss See cases [RCV000137069] Chr2:234835780..242065208 [GRCh38]
Chr2:235744424..243007359 [GRCh37]
Chr2:235409163..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1 copy number loss See cases [RCV000136648] Chr2:235603604..241771051 [GRCh38]
Chr2:236512248..242710466 [GRCh37]
Chr2:236176987..242359139 [NCBI36]
Chr2:2q37.2-37.3
pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1 copy number loss See cases [RCV000136686] Chr2:240067206..242126245 [GRCh38]
Chr2:241006623..243059659 [GRCh37]
Chr2:240655296..242717069 [NCBI36]
Chr2:2q37.3
pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1 copy number loss See cases [RCV000138117] Chr2:238833519..242126245 [GRCh38]
Chr2:239742160..243059659 [GRCh37]
Chr2:239406907..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1 copy number loss See cases [RCV000138565] Chr2:240187901..242126245 [GRCh38]
Chr2:241127318..243059659 [GRCh37]
Chr2:240775991..242717069 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1 copy number loss See cases [RCV000139808] Chr2:237902870..242126251 [GRCh38]
Chr2:238811512..243059659 [GRCh37]
Chr2:238476251..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 copy number loss See cases [RCV000139527] Chr2:236775762..242126251 [GRCh38]
Chr2:237684405..243059659 [GRCh37]
Chr2:237349144..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 copy number loss See cases [RCV000139805] Chr2:236413722..242126251 [GRCh38]
Chr2:237322365..243059659 [GRCh37]
Chr2:236987104..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1 copy number loss See cases [RCV000140648] Chr2:240228628..242126245 [GRCh38]
Chr2:241168045..243059659 [GRCh37]
Chr2:240816718..242717069 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1 copy number loss See cases [RCV000141077] Chr2:240671231..242092126 [GRCh38]
Chr2:241610648..243034277 [GRCh37]
Chr2:241259321..242682950 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.3(chr2:241565848-242110155)x1 copy number loss See cases [RCV000141625] Chr2:241565848..242110155 [GRCh38]
Chr2:242505263..243052306 [GRCh37]
Chr2:242153936..242700979 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 copy number loss See cases [RCV000141661] Chr2:235846916..241841232 [GRCh38]
Chr2:236755560..242783384 [GRCh37]
Chr2:236420299..242432057 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1 copy number loss See cases [RCV000141691] Chr2:239507342..241841232 [GRCh38]
Chr2:240429036..242783384 [GRCh37]
Chr2:240093973..242432057 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1 copy number loss See cases [RCV000142291] Chr2:234159653..241841232 [GRCh38]
Chr2:235068297..242783384 [GRCh37]
Chr2:234733036..242432057 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1 copy number loss See cases [RCV000143423] Chr2:239642965..241841232 [GRCh38]
Chr2:240564659..242783384 [GRCh37]
Chr2:240229596..242432057 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239873381-243006013)x3 copy number gain See cases [RCV000167564] Chr2:239873381..243006013 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 copy number loss See cases [RCV000446034] Chr2:233784243..243040217 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:237816758-242783384)x1 copy number loss See cases [RCV000449023] Chr2:237816758..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242416476-242783384)x1 copy number loss See cases [RCV000446678] Chr2:242416476..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:237938270-242783384)x1 copy number loss See cases [RCV000446532] Chr2:237938270..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000446061] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236285213-242783384)x1 copy number loss See cases [RCV000445750] Chr2:236285213..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242045569-243040217)x1 copy number loss See cases [RCV000448540] Chr2:242045569..243040217 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1 copy number loss See cases [RCV000447929] Chr2:238072533..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236911223-242783384)x1 copy number loss See cases [RCV000447965] Chr2:236911223..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236577291-242783384)x1 copy number loss See cases [RCV000448691] Chr2:236577291..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000512077] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240541136-242783384)x1 copy number loss See cases [RCV000510186] Chr2:240541136..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:239748306-242783384)x1 copy number loss See cases [RCV000510310] Chr2:239748306..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242305098-242783384)x3 copy number gain See cases [RCV000510462] Chr2:242305098..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1 copy number loss See cases [RCV000511491] Chr2:235539337..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240630455-242783384)x1 copy number loss See cases [RCV000511956] Chr2:240630455..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:240161377-242783384)x1 copy number loss See cases [RCV000511227] Chr2:240161377..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240141439-242783384)x3 copy number gain See cases [RCV000512298] Chr2:240141439..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1 copy number loss See cases [RCV000512231] Chr2:237545100..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241997911-242783384)x3 copy number gain See cases [RCV000512463] Chr2:241997911..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:242016876-242783384)x1 copy number loss not provided [RCV000682102] Chr2:242016876..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241810311-242783384)x1 copy number loss not provided [RCV000682110] Chr2:241810311..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240457943-242783384)x1 copy number loss not provided [RCV000682145] Chr2:240457943..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240076138-242783384)x1 copy number loss not provided [RCV000682146] Chr2:240076138..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239884390-242783384)x1 copy number loss not provided [RCV000682148] Chr2:239884390..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1 copy number loss not provided [RCV000682160] Chr2:235790256..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3 copy number gain not provided [RCV000682161] Chr2:234716425..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238037759-243101834)x1 copy number loss not provided [RCV000740979] Chr2:238037759..243101834 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241847589-243101834)x1 copy number loss not provided [RCV000741039] Chr2:241847589..243101834 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242502642-242507270)x0 copy number loss not provided [RCV000741049] Chr2:242502642..242507270 [GRCh37]
Chr2:2q37.3
benign
GRCh37/hg19 2q37.3(chr2:242506195-242510560)x0 copy number loss not provided [RCV000741050] Chr2:242506195..242510560 [GRCh37]
Chr2:2q37.3
benign
GRCh37/hg19 2q37.3(chr2:242509756-242516105)x3 copy number gain not provided [RCV000741051] Chr2:242509756..242516105 [GRCh37]
Chr2:2q37.3
benign
NC_000002.11:g.(?_241808273)_(242708241_?)del deletion not provided [RCV001031165] Chr2:241808273..242708241 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1 copy number loss See cases [RCV000790569] Chr2:239894072..243048760 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080) copy number loss Chromosome 2q37 deletion syndrome [RCV000767787] Chr2:237028693..242708080 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238795602-242918203) copy number loss Chromosome 2q37 deletion syndrome [RCV000767788] Chr2:238795602..242918203 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:239071623-243048760) copy number loss Chromosome 2q37 deletion syndrome [RCV000767789] Chr2:239071623..243048760 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241404033-242684292)x1 copy number loss not provided [RCV000997728] Chr2:241404033..242684292 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:241810850-243048760)x3 copy number gain See cases [RCV001194552] Chr2:241810850..243048760 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3 copy number gain not provided [RCV001005380] Chr2:237265271..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241880799-242783384)x1 copy number loss not provided [RCV001005387] Chr2:241880799..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:240112450-242783384)x1 copy number loss not provided [RCV001005385] Chr2:240112450..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3 copy number gain See cases [RCV001194532] Chr2:238863455..243048760 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:241791028-242842568)x3 copy number gain See cases [RCV001194599] Chr2:241791028..242842568 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:239914717-242783384)x1 copy number loss not provided [RCV001005384] Chr2:239914717..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242011633-243199373)x1 copy number loss not provided [RCV001005388] Chr2:242011633..243199373 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:242340265-242783384)x1 copy number loss not provided [RCV001005390] Chr2:242340265..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1 copy number loss not provided [RCV001007522] Chr2:234791927..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242471243-242760670)x3 copy number gain not provided [RCV001259193] Chr2:242471243..242760670 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
Single allele deletion Intellectual disability [RCV001293367] Chr2:237201756..243048760 [GRCh37]
Chr2:2q37.2-37.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1087 AgrOrtholog
COSMIC BOK COSMIC
Ensembl Genes ENSG00000176720 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000314132 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000318407 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.437.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000176720 GTEx
HGNC ID HGNC:1087 ENTREZGENE
Human Proteome Map BOK Human Proteome Map
InterPro Bcl2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Blc2-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Blc2_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BOK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:666 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 666 ENTREZGENE
OMIM 605404 OMIM
PANTHER PTHR11256 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11256:SF48 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Bcl-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25396 PharmGKB
PRINTS BCL2FAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BCL2_FAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BCL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56854 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R4A8 ENTREZGENE, UniProtKB/TrEMBL
  A0A481T0B6_HUMAN UniProtKB/TrEMBL
  A0A481T0M5_HUMAN UniProtKB/TrEMBL
  A0A481T0W6_HUMAN UniProtKB/TrEMBL
  A0A4D6NU76_HUMAN UniProtKB/TrEMBL
  A0A4D6NVJ5_HUMAN UniProtKB/TrEMBL
  BOK_HUMAN UniProtKB/Swiss-Prot
  Q53NU8_HUMAN UniProtKB/TrEMBL
  Q53QM7_HUMAN UniProtKB/TrEMBL
  Q9UL32_HUMAN UniProtKB/TrEMBL
  Q9UMX3 ENTREZGENE
UniProt Secondary A0A481T0E4 UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-08-21 BOK  BCL2 family apoptosis regulator BOK    BOK, BCL2 family apoptosis regulator  Symbol and/or name change 5135510 APPROVED
2016-06-21 BOK  BOK, BCL2 family apoptosis regulator    BCL2-related ovarian killer  Symbol and/or name change 5135510 APPROVED