BZW1 (basic leucine zipper and W2 domains 1) - Rat Genome Database

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Gene: BZW1 (basic leucine zipper and W2 domains 1) Homo sapiens
Analyze
Symbol: BZW1
Name: basic leucine zipper and W2 domains 1
RGD ID: 1347888
HGNC Page HGNC:18380
Description: Enables RNA binding activity and cadherin binding activity. Involved in regulation of translational initiation. Located in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 5MP2; basic leucine zipper and W2 domain-containing protein 1; basic leucine-zipper protein BZAP45; BZAP45; eIF5-mimic protein 2; KIAA0005; Nbla10236; protein Orf; putative protein product of Nbla10236
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: BZW1P1   BZW1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382200,811,589 - 200,827,338 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2200,810,594 - 200,827,338 (+)EnsemblGRCh38hg38GRCh38
GRCh372201,676,312 - 201,692,061 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362201,384,892 - 201,396,805 (+)NCBINCBI36Build 36hg18NCBI36
Build 342201,502,152 - 201,514,065NCBI
Celera2195,431,568 - 195,443,290 (+)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2193,527,794 - 193,540,092 (+)NCBIHuRef
CHM1_12201,682,306 - 201,694,606 (+)NCBICHM1_1
T2T-CHM13v2.02201,295,023 - 201,310,790 (+)NCBIT2T-CHM13v2.0
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
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxynon-2-enal  (ISO)
6-propyl-2-thiouracil  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (ISO)
alpha-pinene  (EXP)
amitrole  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
chromium(6+)  (ISO)
clozapine  (EXP)
copper(II) sulfate  (EXP)
decabromodiphenyl ether  (EXP)
deguelin  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP,ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dieldrin  (ISO)
dioxygen  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
ethanol  (ISO)
fenpyroximate  (EXP)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
hypochlorous acid  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
methidathion  (ISO)
methimazole  (ISO)
nefazodone  (ISO)
nickel dichloride  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
picoxystrobin  (EXP)
pioglitazone  (EXP)
resveratrol  (EXP)
rimonabant  (ISO)
rotenone  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
sulfadimethoxine  (ISO)
sulindac  (ISO)
tamoxifen  (ISO)
tebufenpyrad  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
tetrahydropalmatine  (EXP)
thioacetamide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
troglitazone  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IDA,IEA)
membrane  (HDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Purification and functional analysis of a novel leucine-zipper/nucleotide-fold protein, BZAP45, stimulating cell cycle regulated histone H4 gene transcription. Mitra P, etal., Biochemistry 2001 Sep 4;40(35):10693-9.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7584026   PMID:7584028   PMID:8125298   PMID:8889548   PMID:10942595   PMID:10964520   PMID:11101529   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15815621   PMID:16964243  
PMID:17081983   PMID:17353931   PMID:18654987   PMID:19446954   PMID:19946888   PMID:20467437   PMID:21319273   PMID:21734401   PMID:21873635   PMID:22658674   PMID:22681889   PMID:22863883  
PMID:22939629   PMID:24797263   PMID:25468996   PMID:25544563   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27173435   PMID:27325740   PMID:27432908   PMID:28380382  
PMID:28514442   PMID:28515276   PMID:28675297   PMID:29395067   PMID:29470543   PMID:29509190   PMID:29511261   PMID:30463901   PMID:30575818   PMID:30833792   PMID:30948266   PMID:31046837  
PMID:31073040   PMID:31091453   PMID:31536960   PMID:31601833   PMID:31871319   PMID:32031713   PMID:32416067   PMID:32683582   PMID:32694731   PMID:32786267   PMID:32941674   PMID:32945505  
PMID:32963011   PMID:33060197   PMID:33393590   PMID:33545068   PMID:33742100   PMID:33886419   PMID:33961781   PMID:34260931   PMID:34285210   PMID:34672954   PMID:34709727   PMID:34951995  
PMID:35241646   PMID:35256949   PMID:35271311   PMID:35509820   PMID:35559673   PMID:35676246   PMID:35831314   PMID:36180527   PMID:36215168   PMID:37536630   PMID:37774976   PMID:37827155  
PMID:37828427   PMID:38306570   PMID:38501421  


Genomics

Comparative Map Data
BZW1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382200,811,589 - 200,827,338 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2200,810,594 - 200,827,338 (+)EnsemblGRCh38hg38GRCh38
GRCh372201,676,312 - 201,692,061 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362201,384,892 - 201,396,805 (+)NCBINCBI36Build 36hg18NCBI36
Build 342201,502,152 - 201,514,065NCBI
Celera2195,431,568 - 195,443,290 (+)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2193,527,794 - 193,540,092 (+)NCBIHuRef
CHM1_12201,682,306 - 201,694,606 (+)NCBICHM1_1
T2T-CHM13v2.02201,295,023 - 201,310,790 (+)NCBIT2T-CHM13v2.0
Bzw1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39158,432,057 - 58,446,513 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl158,432,057 - 58,446,512 (+)EnsemblGRCm39 Ensembl
GRCm38158,392,898 - 58,407,354 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl158,392,898 - 58,407,353 (+)EnsemblGRCm38mm10GRCm38
MGSCv37158,449,980 - 58,463,392 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36158,337,682 - 58,351,094 (+)NCBIMGSCv36mm8
Celera158,912,534 - 58,924,908 (+)NCBICelera
Cytogenetic Map1C1.3NCBI
cM Map129.09NCBI
Bzw1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8967,424,860 - 67,438,656 (+)NCBIGRCr8
mRatBN7.2959,930,672 - 59,944,468 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl959,930,744 - 59,944,430 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx968,423,960 - 68,435,936 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0973,539,889 - 73,551,866 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0971,857,964 - 71,869,940 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0965,279,675 - 65,293,471 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl965,279,675 - 65,291,651 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0965,086,973 - 65,100,762 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4957,053,423 - 57,065,699 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1957,200,404 - 57,212,681 (+)NCBI
Celera957,373,337 - 57,385,338 (+)NCBICelera
Cytogenetic Map9q31NCBI
Bzw1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955403673,863 - 688,353 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955403676,384 - 688,353 (-)NCBIChiLan1.0ChiLan1.0
BZW1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213103,436,638 - 103,448,951 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B103,451,638 - 103,463,945 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B88,067,041 - 88,079,647 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B206,225,963 - 206,238,587 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B206,225,963 - 206,238,587 (+)Ensemblpanpan1.1panPan2
BZW1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13710,005,137 - 10,021,442 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3710,005,183 - 10,017,448 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3710,890,337 - 10,906,641 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0379,910,555 - 9,926,864 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1379,892,074 - 9,908,376 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0379,869,916 - 9,886,220 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0379,863,787 - 9,880,092 (+)NCBIUU_Cfam_GSD_1.0
Bzw1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303158,179,099 - 158,195,783 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936726149,391 - 166,075 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BZW1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15104,525,451 - 104,543,783 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115104,525,900 - 104,543,795 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215115,734,058 - 115,749,664 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BZW1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11086,462,931 - 86,475,381 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1086,463,010 - 86,473,740 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040112,942,630 - 112,955,116 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bzw1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624889313,992 - 325,860 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624889314,439 - 325,885 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BZW1
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1 copy number loss See cases [RCV000052605] Chr2:200520961..203566211 [GRCh38]
Chr2:201385684..204430934 [GRCh37]
Chr2:201093929..204139179 [NCBI36]
Chr2:2q33.1-33.2		 pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1		 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 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 copy number loss See cases [RCV000135341] Chr2:195660594..203969488 [GRCh38]
Chr2:196525318..204834211 [GRCh37]
Chr2:196233563..204542456 [NCBI36]
Chr2:2q32.3-33.2		 pathogenic
GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1 copy number loss See cases [RCV000135665] Chr2:197400023..202089348 [GRCh38]
Chr2:198264747..202954071 [GRCh37]
Chr2:197972992..202662316 [NCBI36]
Chr2:2q33.1		 likely pathogenic
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1		 pathogenic
GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1 copy number loss See cases [RCV000136596] Chr2:198767347..202353840 [GRCh38]
Chr2:199632071..203218563 [GRCh37]
Chr2:199340316..202926808 [NCBI36]
Chr2:2q33.1		 pathogenic
GRCh38/hg38 2q33.1(chr2:200346708-201156417)x1 copy number loss See cases [RCV000136891] Chr2:200346708..201156417 [GRCh38]
Chr2:201211431..202021140 [GRCh37]
Chr2:200919676..201729385 [NCBI36]
Chr2:2q33.1		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34		 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 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3 copy number gain Premature ovarian failure [RCV000225154] Chr2:200250898..201845999 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3 copy number gain See cases [RCV000240410] Chr2:200776457..203070949 [GRCh37]
Chr2:2q33.1		 uncertain significance
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 2q32.3-33.1(chr2:194581315-201752422)x1 copy number loss See cases [RCV000446984] Chr2:194581315..201752422 [GRCh37]
Chr2:2q32.3-33.1		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 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 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001207067.2(BZW1):c.737G>A (p.Arg246Gln) single nucleotide variant not specified [RCV004299362] Chr2:200818311 [GRCh38]
Chr2:201683034 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1 copy number loss not provided [RCV000682162] Chr2:193537927..202027736 [GRCh37]
Chr2:2q32.3-33.1		 pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1 copy number loss not provided [RCV000682165] Chr2:191750202..202297376 [GRCh37]
Chr2:2q32.2-33.1		 pathogenic
Single allele deletion Pulmonary arterial hypertension [RCV001004033] Chr2:201106432..204901548 [GRCh37]
Chr2:2q33.1-33.3		 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
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
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
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2q33.1-34(chr2:200851079-209054267) copy number loss not specified [RCV002053275] Chr2:200851079..209054267 [GRCh37]
Chr2:2q33.1-34		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001207067.2(BZW1):c.302A>G (p.Gln101Arg) single nucleotide variant not specified [RCV004151636] Chr2:200815727 [GRCh38]
Chr2:201680450 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001207067.2(BZW1):c.1060C>G (p.His354Asp) single nucleotide variant not specified [RCV004123761] Chr2:200820075 [GRCh38]
Chr2:201684798 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001207067.2(BZW1):c.885A>G (p.Ile295Met) single nucleotide variant not specified [RCV004160026] Chr2:200818820 [GRCh38]
Chr2:201683543 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001207067.2(BZW1):c.-11+457G>T single nucleotide variant not specified [RCV004245173] Chr2:200812447 [GRCh38]
Chr2:201677170 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001207067.2(BZW1):c.1135A>C (p.Lys379Gln) single nucleotide variant not specified [RCV004124638] Chr2:200821212 [GRCh38]
Chr2:201685935 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001207067.2(BZW1):c.-11+431C>T single nucleotide variant not specified [RCV004232358] Chr2:200812421 [GRCh38]
Chr2:201677144 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001207067.2(BZW1):c.-11+430C>G single nucleotide variant not specified [RCV004075937] Chr2:200812420 [GRCh38]
Chr2:201677143 [GRCh37]
Chr2:2q33.1		 likely benign
NM_001207067.2(BZW1):c.139T>A (p.Leu47Met) single nucleotide variant not specified [RCV004076070] Chr2:200815415 [GRCh38]
Chr2:201680138 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001207067.2(BZW1):c.646A>G (p.Met216Val) single nucleotide variant not specified [RCV004282665] Chr2:200818081 [GRCh38]
Chr2:201682804 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001207067.2(BZW1):c.-11+463G>C single nucleotide variant not specified [RCV004282920] Chr2:200812453 [GRCh38]
Chr2:201677176 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001207067.2(BZW1):c.-11+452C>T single nucleotide variant not specified [RCV004282764] Chr2:200812442 [GRCh38]
Chr2:201677165 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_001207067.2(BZW1):c.-11+427G>T single nucleotide variant not specified [RCV004346584] Chr2:200812417 [GRCh38]
Chr2:201677140 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34		 pathogenic
NM_001207067.2(BZW1):c.998C>G (p.Thr333Ser) single nucleotide variant not specified [RCV004429441] Chr2:200820013 [GRCh38]
Chr2:201684736 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001207067.2(BZW1):c.844A>G (p.Met282Val) single nucleotide variant not specified [RCV004429445] Chr2:200818779 [GRCh38]
Chr2:201683502 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001207067.2(BZW1):c.-11+481C>T single nucleotide variant not specified [RCV004429443] Chr2:200812471 [GRCh38]
Chr2:201677194 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001207067.2(BZW1):c.436G>A (p.Glu146Lys) single nucleotide variant not specified [RCV004429442] Chr2:200817139 [GRCh38]
Chr2:201681862 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001207067.2(BZW1):c.688A>G (p.Thr230Ala) single nucleotide variant not specified [RCV004429444] Chr2:200818262 [GRCh38]
Chr2:201682985 [GRCh37]
Chr2:2q33.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2136
Count of miRNA genes:912
Interacting mature miRNAs:1067
Transcripts:ENST00000359893, ENST00000409226, ENST00000409600, ENST00000410110, ENST00000419090, ENST00000447069, ENST00000450637, ENST00000452206, ENST00000452790, ENST00000460660, ENST00000463310, ENST00000464483, ENST00000491576
Prediction methods:Microtar, 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.

Markers in Region
G15932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373116,364,085 - 116,364,309UniSTSGRCh37
GRCh372201,687,336 - 201,687,560UniSTSGRCh37
Build 362201,395,581 - 201,395,805RGDNCBI36
Celera3114,771,892 - 114,772,116RGD
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map2q33UniSTS
HuRef3113,740,092 - 113,740,316UniSTS
HuRef2193,538,859 - 193,539,083UniSTS
RH67925  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373116,363,371 - 116,363,481UniSTSGRCh37
GRCh372201,688,164 - 201,688,274UniSTSGRCh37
Build 362201,396,409 - 201,396,519RGDNCBI36
Celera3114,771,178 - 114,771,288UniSTS
Celera2195,442,894 - 195,443,004RGD
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map2q33UniSTS
HuRef3113,739,378 - 113,739,488UniSTS
HuRef2193,539,687 - 193,539,797UniSTS
RH25246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373116,363,942 - 116,364,125UniSTSGRCh37
GRCh372201,687,520 - 201,687,703UniSTSGRCh37
Build 362201,395,765 - 201,395,948RGDNCBI36
Celera3114,771,749 - 114,771,932RGD
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map2q33UniSTS
HuRef3113,739,949 - 113,740,132UniSTS
HuRef2193,539,043 - 193,539,226UniSTS
RH65648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373172,144,564 - 172,144,704UniSTSGRCh37
GRCh372201,680,170 - 201,680,459UniSTSGRCh37
Build 362201,388,415 - 201,388,704RGDNCBI36
Celera2195,435,091 - 195,435,380RGD
Celera3170,543,164 - 170,543,304UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map3q26.31UniSTS
HuRef3169,514,996 - 169,515,136UniSTS
HuRef2193,531,695 - 193,531,984UniSTS
GeneMap99-GB4 RH Map2624.57UniSTS
SHGC-58821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372201,675,170 - 201,675,377UniSTSGRCh37
Build 362201,383,415 - 201,383,622RGDNCBI36
Celera2195,430,091 - 195,430,298RGD
Cytogenetic Map2q33UniSTS
HuRef2193,526,695 - 193,526,902UniSTS
TNG Radiation Hybrid Map2110599.0UniSTS
G54452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373116,363,357 - 116,363,568UniSTSGRCh37
GRCh372201,688,077 - 201,688,288UniSTSGRCh37
Build 362201,396,322 - 201,396,533RGDNCBI36
Celera3114,771,164 - 114,771,375UniSTS
Celera2195,442,807 - 195,443,018RGD
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map2q33UniSTS
HuRef3113,739,364 - 113,739,575UniSTS
HuRef2193,539,600 - 193,539,811UniSTS
SHGC-77255  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q33UniSTS
GeneMap99-GB4 RH Map3422.57UniSTS
Whitehead-RH Map3528.2UniSTS
NCBI RH Map3929.8UniSTS


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 pharyngeal arch
High 1
Medium 2265 2043 1648 586 1514 433 3982 1462 2543 374 1444 1606 166 1203 2444 4
Low 174 945 78 38 437 32 374 735 1190 45 14 7 9 1 1 344 2 2
Below cutoff 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001207067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001207068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001207069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA868237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB074176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM969732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB055242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC386317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC409063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z70221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000359893   ⟹   ENSP00000395673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,818,326 - 200,822,550 (+)Ensembl
RefSeq Acc Id: ENST00000409226   ⟹   ENSP00000386837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,812,185 - 200,823,238 (+)Ensembl
RefSeq Acc Id: ENST00000409600   ⟹   ENSP00000386474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,811,910 - 200,827,338 (+)Ensembl
RefSeq Acc Id: ENST00000410110   ⟹   ENSP00000387086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,811,546 - 200,818,818 (+)Ensembl
RefSeq Acc Id: ENST00000419090   ⟹   ENSP00000407268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,812,989 - 200,817,188 (+)Ensembl
RefSeq Acc Id: ENST00000447069   ⟹   ENSP00000393587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,812,676 - 200,815,762 (+)Ensembl
RefSeq Acc Id: ENST00000450637   ⟹   ENSP00000412072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,810,594 - 200,817,167 (+)Ensembl
RefSeq Acc Id: ENST00000452206   ⟹   ENSP00000390766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,811,546 - 200,818,083 (+)Ensembl
RefSeq Acc Id: ENST00000452790   ⟹   ENSP00000394316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,812,356 - 200,822,243 (+)Ensembl
RefSeq Acc Id: ENST00000460660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,811,923 - 200,813,404 (+)Ensembl
RefSeq Acc Id: ENST00000463310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,818,034 - 200,820,195 (+)Ensembl
RefSeq Acc Id: ENST00000464483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,811,910 - 200,815,715 (+)Ensembl
RefSeq Acc Id: ENST00000491576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,818,272 - 200,819,124 (+)Ensembl
RefSeq Acc Id: NM_001207067   ⟹   NP_001193996
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,811,910 - 200,827,338 (+)NCBI
GRCh372201,676,262 - 201,688,569 (+)NCBI
HuRef2193,527,794 - 193,540,092 (+)ENTREZGENE
CHM1_12201,682,306 - 201,694,606 (+)NCBI
T2T-CHM13v2.02201,295,344 - 201,310,790 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001207068   ⟹   NP_001193997
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,812,386 - 200,827,338 (+)NCBI
GRCh372201,676,262 - 201,688,569 (+)NCBI
HuRef2193,527,794 - 193,540,092 (+)ENTREZGENE
CHM1_12201,683,093 - 201,693,003 (+)NCBI
T2T-CHM13v2.02201,295,820 - 201,310,790 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001207069   ⟹   NP_001193998
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,812,185 - 200,827,338 (+)NCBI
GRCh372201,676,262 - 201,688,569 (+)NCBI
HuRef2193,527,794 - 193,540,092 (+)ENTREZGENE
CHM1_12201,682,945 - 201,694,606 (+)NCBI
T2T-CHM13v2.02201,295,619 - 201,310,790 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321688   ⟹   NP_001308617
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,811,910 - 200,827,338 (+)NCBI
CHM1_12201,682,682 - 201,694,611 (+)NCBI
T2T-CHM13v2.02201,295,344 - 201,310,790 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321690   ⟹   NP_001308619
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,811,589 - 200,823,851 (+)NCBI
CHM1_12201,682,349 - 201,694,611 (+)NCBI
T2T-CHM13v2.02201,295,023 - 201,307,291 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321691   ⟹   NP_001308620
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,811,910 - 200,827,338 (+)NCBI
CHM1_12201,682,682 - 201,694,611 (+)NCBI
T2T-CHM13v2.02201,295,344 - 201,310,790 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321693   ⟹   NP_001308622
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,811,910 - 200,827,338 (+)NCBI
CHM1_12201,682,682 - 201,694,611 (+)NCBI
T2T-CHM13v2.02201,295,344 - 201,310,790 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321694   ⟹   NP_001308623
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,811,910 - 200,827,338 (+)NCBI
CHM1_12201,682,662 - 201,694,611 (+)NCBI
T2T-CHM13v2.02201,295,344 - 201,310,790 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014670   ⟹   NP_055485
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,811,910 - 200,827,338 (+)NCBI
GRCh372201,676,262 - 201,688,569 (+)NCBI
Build 362201,384,892 - 201,396,805 (+)NCBI Archive
Celera2195,431,568 - 195,443,290 (+)RGD
HuRef2193,527,794 - 193,540,092 (+)ENTREZGENE
CHM1_12201,682,306 - 201,694,606 (+)NCBI
T2T-CHM13v2.02201,295,344 - 201,310,790 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005393   ⟹   XP_016860882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,815,440 - 200,827,338 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054344721   ⟹   XP_054200696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,298,874 - 201,310,790 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001193996 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193997 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193998 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308617 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308619 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308620 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308622 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308623 (Get FASTA)   NCBI Sequence Viewer  
  NP_055485 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860882 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200696 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH01804 (Get FASTA)   NCBI Sequence Viewer  
  AAH26303 (Get FASTA)   NCBI Sequence Viewer  
  AAX93286 (Get FASTA)   NCBI Sequence Viewer  
  BAA02795 (Get FASTA)   NCBI Sequence Viewer  
  BAD96965 (Get FASTA)   NCBI Sequence Viewer  
  BAE45739 (Get FASTA)   NCBI Sequence Viewer  
  BAG53303 (Get FASTA)   NCBI Sequence Viewer  
  BAG59710 (Get FASTA)   NCBI Sequence Viewer  
  BAG63019 (Get FASTA)   NCBI Sequence Viewer  
  CAA94180 (Get FASTA)   NCBI Sequence Viewer  
  EAW70212 (Get FASTA)   NCBI Sequence Viewer  
  EAW70213 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000386474
  ENSP00000386474.1
  ENSP00000386837
  ENSP00000386837.1
  ENSP00000387086.2
  ENSP00000390766.1
  ENSP00000393587.1
  ENSP00000394316
  ENSP00000394316.2
  ENSP00000395673.1
  ENSP00000407268.1
  ENSP00000412072.1
GenBank Protein Q7L1Q6 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_055485   ⟸   NM_014670
- Peptide Label: isoform 4
- UniProtKB: Q53FN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193996   ⟸   NM_001207067
- Peptide Label: isoform 1
- UniProtKB: Q15394 (UniProtKB/Swiss-Prot),   Q14281 (UniProtKB/Swiss-Prot),   B4DWF7 (UniProtKB/Swiss-Prot),   B4DLZ8 (UniProtKB/Swiss-Prot),   Q9BUY0 (UniProtKB/Swiss-Prot),   Q7L1Q6 (UniProtKB/Swiss-Prot),   Q53FN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193998   ⟸   NM_001207069
- Peptide Label: isoform 3
- UniProtKB: Q53FN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193997   ⟸   NM_001207068
- Peptide Label: isoform 2
- UniProtKB: Q53FN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308619   ⟸   NM_001321690
- Peptide Label: isoform 1
- UniProtKB: Q15394 (UniProtKB/Swiss-Prot),   Q14281 (UniProtKB/Swiss-Prot),   B4DWF7 (UniProtKB/Swiss-Prot),   B4DLZ8 (UniProtKB/Swiss-Prot),   Q9BUY0 (UniProtKB/Swiss-Prot),   Q7L1Q6 (UniProtKB/Swiss-Prot),   Q53FN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308623   ⟸   NM_001321694
- Peptide Label: isoform 7
- Sequence:
RefSeq Acc Id: NP_001308620   ⟸   NM_001321691
- Peptide Label: isoform 5
- UniProtKB: Q53FN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308622   ⟸   NM_001321693
- Peptide Label: isoform 6
- UniProtKB: Q53FN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308617   ⟸   NM_001321688
- Peptide Label: isoform 1
- UniProtKB: Q15394 (UniProtKB/Swiss-Prot),   Q14281 (UniProtKB/Swiss-Prot),   B4DWF7 (UniProtKB/Swiss-Prot),   B4DLZ8 (UniProtKB/Swiss-Prot),   Q9BUY0 (UniProtKB/Swiss-Prot),   Q7L1Q6 (UniProtKB/Swiss-Prot),   Q53FN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016860882   ⟸   XM_017005393
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000395673   ⟸   ENST00000359893
RefSeq Acc Id: ENSP00000387086   ⟸   ENST00000410110
RefSeq Acc Id: ENSP00000412072   ⟸   ENST00000450637
RefSeq Acc Id: ENSP00000394316   ⟸   ENST00000452790
RefSeq Acc Id: ENSP00000390766   ⟸   ENST00000452206
RefSeq Acc Id: ENSP00000407268   ⟸   ENST00000419090
RefSeq Acc Id: ENSP00000393587   ⟸   ENST00000447069
RefSeq Acc Id: ENSP00000386474   ⟸   ENST00000409600
RefSeq Acc Id: ENSP00000386837   ⟸   ENST00000409226
RefSeq Acc Id: XP_054200696   ⟸   XM_054344721
- Peptide Label: isoform X1
Protein Domains
W2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7L1Q6-F1-model_v2 AlphaFold Q7L1Q6 1-419 view protein structure

Promoters
RGD ID:6862486
Promoter ID:EPDNEW_H4408
Type:initiation region
Name:BZW1_2
Description:basic leucine zipper and W2 domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4409  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,811,561 - 200,811,621EPDNEW
RGD ID:6862488
Promoter ID:EPDNEW_H4409
Type:initiation region
Name:BZW1_1
Description:basic leucine zipper and W2 domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4408  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,811,910 - 200,811,970EPDNEW
RGD ID:6796877
Promoter ID:HG_KWN:36631
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000335981
Position:
Human AssemblyChrPosition (strand)Source
Build 362201,383,041 - 201,383,541 (+)MPROMDB
RGD ID:6796880
Promoter ID:HG_KWN:36632
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000353957,   ENST00000409226,   ENST00000409521,   ENST00000409600,   ENST00000410110,   NM_014670,   OTTHUMT00000335976,   OTTHUMT00000335982,   OTTHUMT00000335983,   OTTHUMT00000335984,   OTTHUMT00000335985,   OTTHUMT00000335986,   OTTHUMT00000335987,   UC002UWB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362201,384,191 - 201,385,682 (+)MPROMDB
RGD ID:6850426
Promoter ID:EP73004
Type:initiation region
Name:HS_BZW1
Description:Basic leucine zipper and W2 domains 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362201,384,878 - 201,384,938EPD
RGD ID:6796879
Promoter ID:HG_KWN:36635
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000335988,   OTTHUMT00000335989,   OTTHUMT00000335990
Position:
Human AssemblyChrPosition (strand)Source
Build 362201,390,381 - 201,390,942 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18380 AgrOrtholog
COSMIC BZW1 COSMIC
Ensembl Genes ENSG00000082153 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000359893.4 UniProtKB/TrEMBL
  ENST00000409226 ENTREZGENE
  ENST00000409226.5 UniProtKB/Swiss-Prot
  ENST00000409600 ENTREZGENE
  ENST00000409600.6 UniProtKB/Swiss-Prot
  ENST00000410110.6 UniProtKB/TrEMBL
  ENST00000419090.1 UniProtKB/TrEMBL
  ENST00000447069.5 UniProtKB/TrEMBL
  ENST00000450637.5 UniProtKB/TrEMBL
  ENST00000452206.5 UniProtKB/TrEMBL
  ENST00000452790 ENTREZGENE
  ENST00000452790.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000082153 GTEx
HGNC ID HGNC:18380 ENTREZGENE
Human Proteome Map BZW1 Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  W2_BZW1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  W2_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9689 ENTREZGENE
OMIM 619252 OMIM
PANTHER BASIC LEUCINE ZIPPER AND W2 DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BASIC LEUCINE ZIPPER AND W2 DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF02020 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38535 PharmGKB
PROSITE PS51363 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART eIF5C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KU41_HUMAN UniProtKB/TrEMBL
  B4DLZ8 ENTREZGENE
  B4DWF7 ENTREZGENE
  BZW1_HUMAN UniProtKB/Swiss-Prot
  C9IZ80_HUMAN UniProtKB/TrEMBL
  C9J188_HUMAN UniProtKB/TrEMBL
  C9JFN4_HUMAN UniProtKB/TrEMBL
  C9JV57_HUMAN UniProtKB/TrEMBL
  C9JWF5_HUMAN UniProtKB/TrEMBL
  H0Y503_HUMAN UniProtKB/TrEMBL
  Q14281 ENTREZGENE
  Q15394 ENTREZGENE
  Q3LIC9_HUMAN UniProtKB/TrEMBL
  Q53FN7 ENTREZGENE, UniProtKB/TrEMBL
  Q7L1Q6 ENTREZGENE
  Q9BUY0 ENTREZGENE
UniProt Secondary B4DLZ8 UniProtKB/Swiss-Prot
  B4DWF7 UniProtKB/Swiss-Prot
  Q14281 UniProtKB/Swiss-Prot
  Q15394 UniProtKB/Swiss-Prot
  Q9BUY0 UniProtKB/Swiss-Prot