KBTBD2 (kelch repeat and BTB domain containing 2) - Rat Genome Database

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Gene: KBTBD2 (kelch repeat and BTB domain containing 2) Homo sapiens
Analyze
Symbol: KBTBD2
Name: kelch repeat and BTB domain containing 2
RGD ID: 1321151
HGNC Page HGNC:21751
Description: Enables ubiquitin-like ligase-substrate adaptor activity. Involved in protein K48-linked ubiquitination and regulation of cellular response to insulin stimulus. Is active in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: BKLHD1; BTB and kelch domain containing 1; BTB and kelch domain-containing protein 1; kelch repeat and BTB (POZ) domain containing 2; kelch repeat and BTB domain-containing protein 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC080112.2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38732,868,172 - 32,892,166 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl732,868,172 - 32,894,131 (-)EnsemblGRCh38hg38GRCh38
GRCh37732,907,784 - 32,931,372 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36732,874,309 - 32,897,897 (-)NCBINCBI36Build 36hg18NCBI36
Celera732,889,471 - 32,913,155 (-)NCBICelera
Cytogenetic Map7p14.3NCBI
HuRef732,786,770 - 32,810,454 (-)NCBIHuRef
CHM1_1732,907,579 - 32,931,252 (-)NCBICHM1_1
T2T-CHM13v2.0733,007,774 - 33,031,785 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2732,952,292 - 32,975,978 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
KBTBD2Humanpleomorphic xanthoastrocytoma  IAGPRGD:128590218554872ClinVar Annotator: match by term: Pleomorphic xanthoastrocytomaClinVarPMID:28299358

1 to 20 of 63 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
KBTBD2Human(-)-epigallocatechin 3-gallate multiple interactionsEXP 6480464[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of KBTBD2 mRNACTDPMID:22079256
KBTBD2Human1,2-dimethylhydrazine decreases expressionISORGD:132115264804641,2-Dimethylhydrazine results in decreased expression of KBTBD2 mRNACTDPMID:22206623
KBTBD2Human1,2-dimethylhydrazine multiple interactionsISORGD:13211526480464Folic Acid inhibits the reaction [1,2-Dimethylhydrazine results in decreased expression of KBTBD2 mRNA]CTDPMID:22206623
KBTBD2Human17alpha-ethynylestradiol multiple interactionsISORGD:13211526480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of KBTBD2 mRNACTDPMID:17942748
KBTBD2Human2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISORGD:13211526480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of KBTBD2 mRNACTDPMID:17942748
KBTBD2Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISORGD:13103176480464Tetrachlorodibenzodioxin results in decreased expression of KBTBD2 mRNACTDPMID:33387578
KBTBD2Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISORGD:13211526480464Tetrachlorodibenzodioxin affects the expression of KBTBD2 mRNACTDPMID:21570461
KBTBD2Human2,4-dinitrotoluene affects expressionISORGD:131031764804642,4-dinitrotoluene affects the expression of KBTBD2 mRNACTDPMID:21346803
KBTBD2Human2-hydroxypropanoic acid increases expressionEXP 6480464Lactic Acid results in increased expression of KBTBD2 mRNACTDPMID:30851411
KBTBD2Human3-chloropropane-1,2-diol increases expressionISORGD:13103176480464alpha-Chlorohydrin results in increased expression of KBTBD2 proteinCTDPMID:34915118
KBTBD2Human4,4'-diaminodiphenylmethane decreases expressionISORGD:132115264804644,4'-diaminodiphenylmethane results in decreased expression of KBTBD2 mRNACTDPMID:18648102
KBTBD2Humanafimoxifene increases expressionEXP 6480464afimoxifene results in increased expression of KBTBD2 mRNACTDPMID:16849584
KBTBD2Humanantirheumatic drug decreases expressionEXP 6480464Antirheumatic Agents results in decreased expression of KBTBD2 mRNACTDPMID:24449571
KBTBD2Humanarsane multiple interactionsEXP 6480464[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...CTDPMID:39836092
KBTBD2Humanarsenic atom multiple interactionsEXP 6480464[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...CTDPMID:39836092
KBTBD2Humanarsenite(3-) multiple interactionsEXP 6480464arsenite inhibits the reaction [G3BP1 protein binds to KBTBD2 mRNA]CTDPMID:32406909
KBTBD2Humanbenzo[a]pyrene increases methylationEXP 6480464Benzo(a)pyrene results in increased methylation of KBTBD2 5' UTRCTDPMID:27901495
KBTBD2Humancadmium dichloride increases expressionISORGD:13103176480464Cadmium Chloride results in increased expression of KBTBD2 mRNACTDPMID:19010381
KBTBD2Humanchlorpyrifos decreases expressionISORGD:13211526480464Chlorpyrifos results in decreased expression of KBTBD2 mRNACTDPMID:37019170
KBTBD2Humancopper atom increases expressionISORGD:13211526480464Copper results in increased expression of KBTBD2 mRNACTDPMID:16629173

1 to 20 of 63 rows

Biological Process
1 to 9 of 9 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
KBTBD2Humangene expression acts_upstream_of_or_within_positive_effectIEAUniProtKB:G3X9X1|ensembl:ENSMUSP00000109960150520179 EnsemblGO_REF:0000107
KBTBD2Humanglucose metabolic process acts_upstream_of_or_within_positive_effectIEAUniProtKB:G3X9X1|ensembl:ENSMUSP00000109960150520179 EnsemblGO_REF:0000107
KBTBD2Humanlipid metabolic process acts_upstream_of_or_within_positive_effectIEAUniProtKB:G3X9X1|ensembl:ENSMUSP00000109960150520179 EnsemblGO_REF:0000107
KBTBD2Humanphosphatidylinositol 3-kinase/protein kinase B signal transduction acts_upstream_of_or_within_positive_effectIEAUniProtKB:G3X9X1|ensembl:ENSMUSP00000109960150520179 EnsemblGO_REF:0000107
KBTBD2Humanproteasome-mediated ubiquitin-dependent protein catabolic process involved_inIBAFB:FBgn0037978|FB:FBgn0038475|FB:FBgn0040230|MGI:1919580|PANTHER:PTN001561260|UniProtKB:Q14145|UniProtKB:Q86V97|UniProtKB:Q8WVZ9|UniProtKB:Q9UH77|UniProtKB:Q9Y2M5150520179 GO_CentralGO_REF:0000033
KBTBD2Humanprotein K48-linked ubiquitination involved_inIDA 150520179 PMID:27708159UniProtPMID:27708159
KBTBD2Humanprotein ubiquitination involved_inIEAUniPathway:UPA00143150520179 UniProtGO_REF:0000041
KBTBD2Humanregulation of cellular response to insulin stimulus involved_inIDA 150520179 PMID:27708159UniProtPMID:27708159
KBTBD2Humanresponse to insulin acts_upstream_of_or_within_positive_effectIEAUniProtKB:G3X9X1|ensembl:ENSMUSP00000109960150520179 EnsemblGO_REF:0000107
1 to 9 of 9 rows

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
KBTBD2HumanCul3-RING ubiquitin ligase complex part_ofIBAFB:FBgn0037978|FB:FBgn0038475|FB:FBgn0040038|FB:FBgn0040230|MGI:1858732|MGI:1919580|MGI:1924363|PANTHER:PTN001561260|UniProtKB:O60662|UniProtKB:Q14145|UniProtKB:Q53G59|UniProtKB:Q6TFL4|UniProtKB:Q86V97|UniProtKB:Q8IXQ5|UniProtKB:Q8NFY9|UniProtKB:Q8WVZ9|UniProtKB:Q9H2C0|UniProtKB:Q9P2G9|UniProtKB:Q9UH77|UniProtKB:Q9UJP4|UniProtKB:Q9Y2M5|WB:WBGene00020952150520179 GO_CentralGO_REF:0000033
KBTBD2Humancytoplasm is_active_inIDA 150520179 PMID:27708159UniProtPMID:27708159
KBTBD2Humancytoplasm is_active_inIBAMGI:1858732|MGI:1919580|MGI:1924363|MGI:2181067|MGI:2683854|MGI:3045316|PANTHER:PTN001561260|RGD:708444|UniProtKB:O60662|UniProtKB:Q13939|UniProtKB:Q14145|UniProtKB:Q53G59|UniProtKB:Q6TFL4|UniProtKB:Q86V97|UniProtKB:Q8IXQ5|UniProtKB:Q8IY47|UniProtKB:Q9H2C0|UniProtKB:Q9NR64|UniProtKB:Q9UH77|UniProtKB:Q9Y2M5|UniProtKB:Q9Y6Y0150520179 GO_CentralGO_REF:0000033

Molecular Function

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
KBTBD2Humanubiquitin-like ligase-substrate adaptor activity enablesIDA 150520179 PMID:27708159UniProtPMID:27708159
KBTBD2Humanubiquitin-like ligase-substrate adaptor activity enablesIBAFB:FBgn0037978|FB:FBgn0038475|FB:FBgn0040230|PANTHER:PTN001561260|UniProtKB:O95198|UniProtKB:Q14145|UniProtKB:Q8IY47|UniProtKB:Q9UH77150520179 GO_CentralGO_REF:0000033

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
KBTBD2HumanPleomorphic xanthoastrocytoma  IAGPRGD:128590218554872ClinVar Annotator: match by term: Pleomorphic xanthoastrocytomaClinVarPMID:28299358

#
Reference Title
Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
PMID:10810093   PMID:10819331   PMID:12477932   PMID:15489334   PMID:18775313   PMID:21145461   PMID:21873635   PMID:22658674   PMID:26186194   PMID:27708159   PMID:28514442   PMID:28718761  
PMID:33961781   PMID:34315543   PMID:34878901   PMID:35563538   PMID:35844135   PMID:36215168   PMID:37495603   PMID:38332366  



KBTBD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38732,868,172 - 32,892,166 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl732,868,172 - 32,894,131 (-)EnsemblGRCh38hg38GRCh38
GRCh37732,907,784 - 32,931,372 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36732,874,309 - 32,897,897 (-)NCBINCBI36Build 36hg18NCBI36
Celera732,889,471 - 32,913,155 (-)NCBICelera
Cytogenetic Map7p14.3NCBI
HuRef732,786,770 - 32,810,454 (-)NCBIHuRef
CHM1_1732,907,579 - 32,931,252 (-)NCBICHM1_1
T2T-CHM13v2.0733,007,774 - 33,031,785 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2732,952,292 - 32,975,978 (-)NCBI
Kbtbd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39656,754,510 - 56,774,798 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl656,754,509 - 56,774,798 (-)EnsemblGRCm39 Ensembl
GRCm38656,777,525 - 56,797,813 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl656,777,524 - 56,797,813 (-)EnsemblGRCm38mm10GRCm38
MGSCv37656,727,519 - 56,747,807 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36656,707,102 - 56,709,887 (-)NCBIMGSCv36mm8
Celera657,540,246 - 57,560,571 (-)NCBICelera
Cytogenetic Map6B3NCBI
cM Map627.73NCBI
Kbtbd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8487,358,133 - 87,380,399 (-)NCBIGRCr8
mRatBN7.2486,027,947 - 86,050,266 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl486,027,947 - 86,050,211 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx491,262,219 - 91,284,488 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0487,037,643 - 87,059,912 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0485,438,820 - 85,461,060 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0487,088,759 - 87,111,576 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl487,088,759 - 87,111,025 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04151,741,021 - 151,763,287 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4485,733,475 - 85,755,741 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1485,978,120 - 85,991,249 (-)NCBI
Celera480,859,557 - 80,881,788 (-)NCBICelera
Cytogenetic Map4q24NCBI
Kbtbd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955617137,854 - 157,801 (-)NCBIChiLan1.0ChiLan1.0
KBTBD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2637,661,418 - 37,688,536 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1785,986,151 - 86,013,240 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0733,463,369 - 33,490,367 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1733,864,738 - 33,892,200 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl733,863,972 - 33,892,200 (-)Ensemblpanpan1.1panPan2
KBTBD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11444,941,116 - 45,001,887 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1444,941,448 - 44,994,047 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1444,385,656 - 44,450,680 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01444,889,626 - 44,955,299 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1444,923,608 - 45,127,972 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11444,994,620 - 45,059,628 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01444,708,352 - 44,740,608 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01445,049,246 - 45,114,585 (-)NCBIUU_Cfam_GSD_1.0
Kbtbd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511889,425,193 - 89,451,758 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364788,638,098 - 8,651,157 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364788,636,923 - 8,663,152 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KBTBD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1840,604,558 - 40,637,085 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11840,604,458 - 40,636,401 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21844,530,682 - 44,555,449 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KBTBD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12125,545,659 - 25,569,390 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2125,557,630 - 25,568,209 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604281,453,214 - 81,479,265 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kbtbd2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248962,998,845 - 3,015,281 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248962,998,990 - 3,014,989 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in KBTBD2
31 total Variants

1 to 10 of 51 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3 copy number gain See cases [RCV000051178] Chr7:30420933..34560665 [GRCh38]
Chr7:30460549..34600277 [GRCh37]
Chr7:30427074..34566802 [NCBI36]
Chr7:7p14.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1 copy number loss See cases [RCV000140283] Chr7:32678391..41044983 [GRCh38]
Chr7:32718003..41084581 [GRCh37]
Chr7:32684528..41051106 [NCBI36]
Chr7:7p14.3-14.1
pathogenic
GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1 copy number loss See cases [RCV000141441] Chr7:30938370..33400996 [GRCh38]
Chr7:30977985..33440608 [GRCh37]
Chr7:30944510..33407133 [NCBI36]
Chr7:7p14.3
likely pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
1 to 10 of 51 rows

Predicted Target Of
Summary Value
Count of predictions:879
Count of miRNA genes:588
Interacting mature miRNAs:642
Transcripts:ENST00000304056, ENST00000423022, ENST00000424468, ENST00000452926, ENST00000453627, ENST00000477129, ENST00000485611
Prediction methods:Microtar, Miranda, Rnahybrid
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.


1 to 10 of 12 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597333083GWAS1429157_Hneuroimaging measurement QTL GWAS1429157 (human)0.000002neuroimaging measurement73287858232878583Human
597119043GWAS1215117_Happendicular lean mass QTL GWAS1215117 (human)2e-19appendicular lean mass73286830932868310Human
406988150GWAS637126_Hmean corpuscular hemoglobin concentration QTL GWAS637126 (human)3e-18mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)73287793832877939Human
597517721GWAS1613795_HTinnitus QTL GWAS1613795 (human)0.0000005Tinnitus73289098532890986Human
596979436GWAS1098955_Hbody height QTL GWAS1098955 (human)3e-29body height73286830932868310Human
597084988GWAS1181062_Hmean corpuscular hemoglobin QTL GWAS1181062 (human)5e-16mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)73287793832877939Human
597332672GWAS1428746_Hneuroimaging measurement QTL GWAS1428746 (human)0.000005neuroimaging measurement73287858232878583Human
597261746GWAS1357820_Hserum metabolite measurement QTL GWAS1357820 (human)0.000005serum metabolite measurement73287100332871004Human
1559132SAPOB3_HSerum apolipoprotein B level QTL 3 (human)20.4Apolipoprotein levelapolipoprotein B73289107458891074Human
406990831GWAS639807_Hmean corpuscular hemoglobin concentration QTL GWAS639807 (human)3e-19mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)73287793832877939Human

1 to 10 of 12 rows
RH92901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,914,645 - 32,914,771UniSTSGRCh37
Build 36732,881,170 - 32,881,296RGDNCBI36
Celera732,896,338 - 32,896,464RGD
Cytogenetic Map7p14.3UniSTS
HuRef732,793,635 - 32,793,761UniSTS
CRA_TCAGchr7v2732,959,159 - 32,959,285UniSTS
GeneMap99-GB4 RH Map7149.48UniSTS
DKFZP566C134  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera732,889,977 - 32,890,267RGD
HuRef732,787,276 - 32,787,566UniSTS
CRA_TCAGchr7v2732,952,798 - 32,953,088UniSTS
WI-11592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,907,814 - 32,907,930UniSTSGRCh37
Build 36732,874,339 - 32,874,455RGDNCBI36
Celera732,889,507 - 32,889,623RGD
Cytogenetic Map7p14.3UniSTS
HuRef732,786,806 - 32,786,922UniSTS
CRA_TCAGchr7v2732,952,328 - 32,952,444UniSTS
GeneMap99-GB4 RH Map7152.14UniSTS
Whitehead-RH Map787.1UniSTS
NCBI RH Map7529.2UniSTS
STS-N74357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,910,530 - 32,910,725UniSTSGRCh37
Build 36732,877,055 - 32,877,250RGDNCBI36
Celera732,892,223 - 32,892,418RGD
Cytogenetic Map7p14.3UniSTS
HuRef732,789,522 - 32,789,717UniSTS
CRA_TCAGchr7v2732,955,044 - 32,955,239UniSTS
GeneMap99-GB4 RH Map7148.23UniSTS
NCBI RH Map7467.5UniSTS
RH46406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,910,528 - 32,910,702UniSTSGRCh37
Build 36732,877,053 - 32,877,227RGDNCBI36
Celera732,892,221 - 32,892,395RGD
Cytogenetic Map7p14.3UniSTS
HuRef732,789,520 - 32,789,694UniSTS
CRA_TCAGchr7v2732,955,042 - 32,955,216UniSTS
GeneMap99-GB4 RH Map7154.34UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1


1 to 30 of 30 rows
RefSeq Transcripts NM_015483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AACC02000103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB040922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF004292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 30 of 30 rows

Ensembl Acc Id: ENST00000304056   ⟹   ENSP00000302586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl732,868,172 - 32,891,760 (-)Ensembl
Ensembl Acc Id: ENST00000423022   ⟹   ENSP00000407520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl732,879,564 - 32,891,153 (-)Ensembl
Ensembl Acc Id: ENST00000424468   ⟹   ENSP00000388236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl732,879,592 - 32,892,733 (-)Ensembl
Ensembl Acc Id: ENST00000452926   ⟹   ENSP00000395715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl732,879,462 - 32,892,144 (-)Ensembl
Ensembl Acc Id: ENST00000453627   ⟹   ENSP00000407059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl732,879,516 - 32,894,131 (-)Ensembl
Ensembl Acc Id: ENST00000477129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl732,874,522 - 32,879,493 (-)Ensembl
Ensembl Acc Id: ENST00000485611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl732,870,808 - 32,892,144 (-)Ensembl
Ensembl Acc Id: ENST00000621876   ⟹   ENSP00000481197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl732,870,087 - 32,879,672 (-)Ensembl
RefSeq Acc Id: NM_015483   ⟹   NP_056298
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38732,868,172 - 32,891,760 (-)NCBI
GRCh37732,907,778 - 32,931,468 (-)RGD
Build 36732,874,309 - 32,897,897 (-)NCBI Archive
Celera732,889,471 - 32,913,155 (-)RGD
HuRef732,786,770 - 32,810,454 (-)RGD
CHM1_1732,907,579 - 32,931,252 (-)NCBI
T2T-CHM13v2.0733,007,774 - 33,031,357 (-)NCBI
CRA_TCAGchr7v2732,952,292 - 32,975,978 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_005249696   ⟹   XP_005249753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38732,868,172 - 32,891,285 (-)NCBI
GRCh37732,907,778 - 32,931,468 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515256   ⟹   XP_011513558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38732,868,172 - 32,892,166 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420124   ⟹   XP_047276080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38732,868,172 - 32,891,760 (-)NCBI
RefSeq Acc Id: XM_047420125   ⟹   XP_047276081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38732,868,172 - 32,892,159 (-)NCBI
RefSeq Acc Id: XM_047420126   ⟹   XP_047276082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38732,868,172 - 32,890,961 (-)NCBI
RefSeq Acc Id: XM_047420127   ⟹   XP_047276083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38732,868,172 - 32,891,167 (-)NCBI
RefSeq Acc Id: XM_054357773   ⟹   XP_054213748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0733,007,774 - 33,031,357 (-)NCBI
RefSeq Acc Id: XM_054357774   ⟹   XP_054213749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0733,007,774 - 33,031,778 (-)NCBI
RefSeq Acc Id: XM_054357775   ⟹   XP_054213750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0733,007,774 - 33,030,558 (-)NCBI
RefSeq Acc Id: XM_054357776   ⟹   XP_054213751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0733,007,774 - 33,030,764 (-)NCBI
RefSeq Acc Id: XM_054357777   ⟹   XP_054213752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0733,007,774 - 33,030,882 (-)NCBI
RefSeq Acc Id: XM_054357778   ⟹   XP_054213753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0733,007,774 - 33,031,785 (-)NCBI
1 to 27 of 27 rows
Protein RefSeqs NP_056298 (Get FASTA)   NCBI Sequence Viewer  
  XP_005249753 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513558 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276080 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276081 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276082 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276083 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213748 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213749 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213750 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213751 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213752 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213753 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD34068 (Get FASTA)   NCBI Sequence Viewer  
  AAF28962 (Get FASTA)   NCBI Sequence Viewer  
  AAH37887 (Get FASTA)   NCBI Sequence Viewer  
  AAH47107 (Get FASTA)   NCBI Sequence Viewer  
  BAA96013 (Get FASTA)   NCBI Sequence Viewer  
  BAF85491 (Get FASTA)   NCBI Sequence Viewer  
  CAB55994 (Get FASTA)   NCBI Sequence Viewer  
  EAL24459 (Get FASTA)   NCBI Sequence Viewer  
  EAW94000 (Get FASTA)   NCBI Sequence Viewer  
  EAW94001 (Get FASTA)   NCBI Sequence Viewer  
  EAW94002 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000302586
  ENSP00000302586.4
GenBank Protein Q8IY47 (Get FASTA)   NCBI Sequence Viewer  
1 to 27 of 27 rows
1 to 5 of 19 rows
1 to 5 of 19 rows
RefSeq Acc Id: NP_056298   ⟸   NM_015483
- UniProtKB: Q9UFM7 (UniProtKB/Swiss-Prot),   Q9P239 (UniProtKB/Swiss-Prot),   Q86Y62 (UniProtKB/Swiss-Prot),   A8K9T7 (UniProtKB/Swiss-Prot),   Q9Y382 (UniProtKB/Swiss-Prot),   Q8IY47 (UniProtKB/Swiss-Prot),   A0A024RA38 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249753   ⟸   XM_005249696
- Peptide Label: isoform X1
- UniProtKB: Q9UFM7 (UniProtKB/Swiss-Prot),   Q9P239 (UniProtKB/Swiss-Prot),   Q86Y62 (UniProtKB/Swiss-Prot),   A8K9T7 (UniProtKB/Swiss-Prot),   Q9Y382 (UniProtKB/Swiss-Prot),   Q8IY47 (UniProtKB/Swiss-Prot),   A0A024RA38 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513558   ⟸   XM_011515256
- Peptide Label: isoform X1
- UniProtKB: Q9UFM7 (UniProtKB/Swiss-Prot),   Q9P239 (UniProtKB/Swiss-Prot),   Q86Y62 (UniProtKB/Swiss-Prot),   A8K9T7 (UniProtKB/Swiss-Prot),   Q9Y382 (UniProtKB/Swiss-Prot),   Q8IY47 (UniProtKB/Swiss-Prot),   A0A024RA38 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000407520   ⟸   ENST00000423022
Ensembl Acc Id: ENSP00000388236   ⟸   ENST00000424468
BACK   BTB

Name Modeler Protein Id AA Range Protein Structure
AF-Q8IY47-F1-model_v2 AlphaFold Q8IY47 1-623 view protein structure

RGD ID:6805835
Promoter ID:HG_KWN:56895
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000328896
Position:
Human AssemblyChrPosition (strand)Source
Build 36732,885,566 - 32,886,066 (-)MPROMDB
RGD ID:7210333
Promoter ID:EPDNEW_H10913
Type:initiation region
Name:KBTBD2_2
Description:kelch repeat and BTB domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10915  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38732,891,593 - 32,891,653EPDNEW
RGD ID:6805832
Promoter ID:HG_KWN:56896
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000328890,   OTTHUMT00000328892,   OTTHUMT00000328893,   OTTHUMT00000328894,   OTTHUMT00000328895
Position:
Human AssemblyChrPosition (strand)Source
Build 36732,897,726 - 32,898,947 (-)MPROMDB


1 to 40 of 50 rows
Database
Acc Id
Source(s)
COSMIC KBTBD2 COSMIC
Ensembl Genes ENSG00000170852 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000304056 ENTREZGENE
  ENST00000304056.9 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.420 UniProtKB/Swiss-Prot
  2.120.10.80 UniProtKB/Swiss-Prot
  Potassium Channel Kv1.1, Chain A UniProtKB/Swiss-Prot
GTEx ENSG00000170852 GTEx
HGNC ID HGNC:21751 ENTREZGENE
Human Proteome Map KBTBD2 Human Proteome Map
InterPro BACK UniProtKB/Swiss-Prot
  BTB-kelch_protein UniProtKB/Swiss-Prot
  BTB/POZ_dom UniProtKB/Swiss-Prot
  KBTBD2 UniProtKB/Swiss-Prot
  KBTBD2_BACK UniProtKB/Swiss-Prot
  Kelch-typ_b-propeller UniProtKB/Swiss-Prot
  Kelch_1 UniProtKB/Swiss-Prot
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot
KEGG Report hsa:25948 UniProtKB/Swiss-Prot
NCBI Gene 25948 ENTREZGENE
OMIM 619393 OMIM
PANTHER KELCH-LIKE PROTEIN 22 UniProtKB/Swiss-Prot
  LD33804P UniProtKB/Swiss-Prot
Pfam BACK UniProtKB/Swiss-Prot
  BTB UniProtKB/Swiss-Prot
  Kelch_1 UniProtKB/Swiss-Prot
PharmGKB PA134892896 PharmGKB
PIRSF Kelch-like_protein_gigaxonin UniProtKB/Swiss-Prot
PROSITE BTB UniProtKB/Swiss-Prot
SMART BACK UniProtKB/Swiss-Prot
  BTB UniProtKB/Swiss-Prot
  Kelch UniProtKB/Swiss-Prot
Superfamily-SCOP SSF117281 UniProtKB/Swiss-Prot
  SSF54695 UniProtKB/Swiss-Prot
UniProt A0A024RA38 ENTREZGENE, UniProtKB/TrEMBL
  A8K9T7 ENTREZGENE
  C9JI11_HUMAN UniProtKB/TrEMBL
  C9JUE5_HUMAN UniProtKB/TrEMBL
  C9JZ29_HUMAN UniProtKB/TrEMBL
  KBTB2_HUMAN UniProtKB/Swiss-Prot
1 to 40 of 50 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 KBTBD2  kelch repeat and BTB domain containing 2    kelch repeat and BTB (POZ) domain containing 2  Symbol and/or name change 5135510 APPROVED