ABTB2 (ankyrin repeat and BTB domain containing 2) - Rat Genome Database

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Gene: ABTB2 (ankyrin repeat and BTB domain containing 2) Homo sapiens
Analyze
Symbol: ABTB2
Name: ankyrin repeat and BTB domain containing 2
RGD ID: 733617
HGNC Page HGNC:23842
Description: Predicted to enable protein heterodimerization activity. Predicted to act upstream of or within cellular response to toxic substance.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ABTB2A; ankyrin repeat and BTB (POZ) domain containing 2; ankyrin repeat and BTB/POZ domain-containing protein 2; BTBD22; DKFZp586C1619
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381134,150,987 - 34,358,010 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1134,150,987 - 34,358,010 (-)EnsemblGRCh38hg38GRCh38
GRCh371134,172,534 - 34,379,557 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361134,129,111 - 34,335,378 (-)NCBINCBI36Build 36hg18NCBI36
Build 341134,129,110 - 34,335,378NCBI
Celera1134,320,078 - 34,526,769 (-)NCBICelera
Cytogenetic Map11p13NCBI
HuRef1133,869,169 - 34,076,838 (-)NCBIHuRef
CHM1_11134,171,903 - 34,378,573 (-)NCBICHM1_1
T2T-CHM13v2.01134,287,990 - 34,494,746 (-)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
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dinophysistoxin 1  (EXP)
dioxygen  (ISO)
diuron  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fluoranthene  (ISO)
flutamide  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glyphosate  (ISO)
graphite  (ISO)
hydrogen peroxide  (EXP)
lipopolysaccharide  (EXP)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
senecionine  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
succimer  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
undecane  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vincristine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:18429817   PMID:18459963   PMID:20379614   PMID:21145461   PMID:23333304   PMID:24623842   PMID:26673895   PMID:26760575   PMID:27432908  
PMID:28514442   PMID:28675297   PMID:29117863   PMID:29507755   PMID:30404837   PMID:31586073   PMID:32707033   PMID:33660365   PMID:33961781   PMID:34315543   PMID:35748872   PMID:36724073  
PMID:36931259   PMID:36936774  


Genomics

Comparative Map Data
ABTB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381134,150,987 - 34,358,010 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1134,150,987 - 34,358,010 (-)EnsemblGRCh38hg38GRCh38
GRCh371134,172,534 - 34,379,557 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361134,129,111 - 34,335,378 (-)NCBINCBI36Build 36hg18NCBI36
Build 341134,129,110 - 34,335,378NCBI
Celera1134,320,078 - 34,526,769 (-)NCBICelera
Cytogenetic Map11p13NCBI
HuRef1133,869,169 - 34,076,838 (-)NCBIHuRef
CHM1_11134,171,903 - 34,378,573 (-)NCBICHM1_1
T2T-CHM13v2.01134,287,990 - 34,494,746 (-)NCBIT2T-CHM13v2.0
Abtb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392103,396,655 - 103,548,768 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2103,396,655 - 103,548,768 (+)EnsemblGRCm39 Ensembl
GRCm382103,566,310 - 103,718,423 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2103,566,310 - 103,718,423 (+)EnsemblGRCm38mm10GRCm38
MGSCv372103,406,467 - 103,558,580 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362103,367,149 - 103,519,262 (+)NCBIMGSCv36mm8
Celera2104,814,461 - 104,967,567 (+)NCBICelera
Cytogenetic Map2E2NCBI
cM Map254.43NCBI
Abtb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83110,409,672 - 110,563,488 (+)NCBIGRCr8
mRatBN7.2389,954,726 - 90,108,549 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl389,954,713 - 90,108,548 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx393,448,249 - 93,601,949 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03102,047,320 - 102,201,032 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0399,878,295 - 100,032,334 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0393,494,706 - 93,648,750 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl393,495,106 - 93,647,721 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03100,136,224 - 100,290,000 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4388,858,336 - 89,012,166 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1388,754,763 - 88,908,594 (+)NCBI
Celera389,022,954 - 89,176,876 (+)NCBICelera
Cytogenetic Map3q32NCBI
Abtb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542211,913,334 - 12,081,323 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542211,913,334 - 12,082,421 (+)NCBIChiLan1.0ChiLan1.0
ABTB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2936,375,204 - 36,583,194 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11136,380,013 - 36,588,023 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01134,127,668 - 34,335,680 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11134,006,139 - 34,212,042 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1134,015,276 - 34,211,591 (-)Ensemblpanpan1.1panPan2
ABTB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11833,483,925 - 33,651,165 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1833,483,862 - 33,650,327 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1833,090,280 - 33,257,034 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01834,095,625 - 34,262,444 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1834,095,148 - 34,262,442 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11833,654,976 - 33,821,572 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01833,247,108 - 33,414,047 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01833,882,624 - 34,049,579 (+)NCBIUU_Cfam_GSD_1.0
Abtb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494730,581,110 - 30,742,203 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365333,705,873 - 3,867,106 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365333,705,902 - 3,866,998 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABTB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl226,548,852 - 26,782,172 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1226,579,526 - 26,782,180 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2228,946,563 - 29,149,547 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ABTB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1130,906,832 - 31,120,948 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl130,907,236 - 31,119,590 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038128,016,431 - 128,224,522 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abtb2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476712,794,431 - 12,962,770 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476712,793,687 - 12,963,836 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ABTB2
65 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1 copy number loss See cases [RCV000052648] Chr11:22550115..38199159 [GRCh38]
Chr11:22571661..38220709 [GRCh37]
Chr11:22528237..38177285 [NCBI36]
Chr11:11p14.3-12		 pathogenic
GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3 copy number gain See cases [RCV000053617] Chr11:34161694..36799127 [GRCh38]
Chr11:34183241..36820677 [GRCh37]
Chr11:34139817..36777253 [NCBI36]
Chr11:11p13-12		 pathogenic
NM_145804.2(ABTB2):c.2600C>T (p.Ser867Phe) single nucleotide variant Malignant melanoma [RCV000069342] Chr11:34159912 [GRCh38]
Chr11:34181459 [GRCh37]
Chr11:34138035 [NCBI36]
Chr11:11p13		 not provided
NM_145804.2(ABTB2):c.1501G>A (p.Asp501Asn) single nucleotide variant Malignant melanoma [RCV000062200] Chr11:34170968 [GRCh38]
Chr11:34192515 [GRCh37]
Chr11:34149091 [NCBI36]
Chr11:11p13		 not provided
NM_145804.2(ABTB2):c.883+49566G>A single nucleotide variant Lung cancer [RCV000109989] Chr11:34307135 [GRCh38]
Chr11:34328682 [GRCh37]
Chr11:11p13		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1 copy number loss See cases [RCV000142499] Chr11:20079474..34463996 [GRCh38]
Chr11:20101020..34485543 [GRCh37]
Chr11:20057596..34442119 [NCBI36]
Chr11:11p15.1-13		 pathogenic
GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3 copy number gain See cases [RCV000142987] Chr11:34168931..36820798 [GRCh38]
Chr11:34190478..36842348 [GRCh37]
Chr11:34147054..36798924 [NCBI36]
Chr11:11p13-12		 uncertain significance
GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1 copy number loss See cases [RCV000240268] Chr11:30615127..40606139 [GRCh37]
Chr11:11p14.1-12		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11p13(chr11:31210842-35436121)x1 copy number loss See cases [RCV000446864] Chr11:31210842..35436121 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p14.1-11.2(chr11:29238811-45494063)x1 copy number loss See cases [RCV000445800] Chr11:29238811..45494063 [GRCh37]
Chr11:11p14.1-11.2		 pathogenic
GRCh37/hg19 11p14.1-13(chr11:27895487-34494489)x1 copy number loss See cases [RCV000448524] Chr11:27895487..34494489 [GRCh37]
Chr11:11p14.1-13		 pathogenic
GRCh37/hg19 11p13-12(chr11:34189942-36857171)x3 copy number gain See cases [RCV000448252] Chr11:34189942..36857171 [GRCh37]
Chr11:11p13-12		 uncertain significance
GRCh37/hg19 11p13-12(chr11:32782607-36404823)x3 copy number gain See cases [RCV000448055] Chr11:32782607..36404823 [GRCh37]
Chr11:11p13-12		 uncertain significance
GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1 copy number loss See cases [RCV000512014] Chr11:25771208..35614978 [GRCh37]
Chr11:11p14.3-13		 pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1 copy number loss See cases [RCV000511434] Chr11:27588560..41770792 [GRCh37]
Chr11:11p14.1-12		 pathogenic|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1 copy number loss See cases [RCV000135295] Chr11:26368962..35252976 [GRCh38]
Chr11:26390509..35274523 [GRCh37]
Chr11:26347085..35231099 [NCBI36]
Chr11:11p14.2-13		 pathogenic
GRCh37/hg19 11p13(chr11:31828509-34576695)x1 copy number loss See cases [RCV000448824] Chr11:31828509..34576695 [GRCh37]
Chr11:11p13		 pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12		 pathogenic
NM_145804.3(ABTB2):c.1557T>G (p.Asp519Glu) single nucleotide variant not specified [RCV004298323] Chr11:34170912 [GRCh38]
Chr11:34192459 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1115A>G (p.Gln372Arg) single nucleotide variant not specified [RCV004299709] Chr11:34197454 [GRCh38]
Chr11:34219001 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2492C>T (p.Pro831Leu) single nucleotide variant not specified [RCV004285759] Chr11:34160259 [GRCh38]
Chr11:34181806 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1394T>C (p.Leu465Pro) single nucleotide variant not specified [RCV004310982] Chr11:34173158 [GRCh38]
Chr11:34194705 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1292T>C (p.Ile431Thr) single nucleotide variant not specified [RCV004320681] Chr11:34173260 [GRCh38]
Chr11:34194807 [GRCh37]
Chr11:11p13		 uncertain significance
GRCh37/hg19 11p13(chr11:33297483-34359612)x3 copy number gain not provided [RCV000683354] Chr11:33297483..34359612 [GRCh37]
Chr11:11p13		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p14.3-12(chr11:24469451-37524085)x1 copy number loss not provided [RCV000737457] Chr11:24469451..37524085 [GRCh37]
Chr11:11p14.3-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p14.3-13(chr11:25196998-34196484)x1 copy number loss not provided [RCV000737466] Chr11:25196998..34196484 [GRCh37]
Chr11:11p14.3-13		 pathogenic
GRCh37/hg19 11p13(chr11:34202953-34212883)x1 copy number loss not provided [RCV000737484] Chr11:34202953..34212883 [GRCh37]
Chr11:11p13		 benign
GRCh37/hg19 11p13(chr11:34203720-34204464)x0 copy number loss not provided [RCV000737485] Chr11:34203720..34204464 [GRCh37]
Chr11:11p13		 benign
GRCh37/hg19 11p13(chr11:34203775-34204464)x1 copy number loss not provided [RCV000737486] Chr11:34203775..34204464 [GRCh37]
Chr11:11p13		 benign
GRCh37/hg19 11p13(chr11:34203832-34204464)x1 copy number loss not provided [RCV000737487] Chr11:34203832..34204464 [GRCh37]
Chr11:11p13		 benign
GRCh37/hg19 11p13(chr11:34203832-34212883)x1 copy number loss not provided [RCV000737488] Chr11:34203832..34212883 [GRCh37]
Chr11:11p13		 benign
GRCh37/hg19 11p13(chr11:34238653-34257916)x1 copy number loss not provided [RCV000750005] Chr11:34238653..34257916 [GRCh37]
Chr11:11p13		 benign
GRCh37/hg19 11p13(chr11:34248586-34256377)x1 copy number loss not provided [RCV000750006] Chr11:34248586..34256377 [GRCh37]
Chr11:11p13		 benign
GRCh37/hg19 11p13(chr11:34331231-34493801)x3 copy number gain not provided [RCV000750007] Chr11:34331231..34493801 [GRCh37]
Chr11:11p13		 benign
NM_145804.3(ABTB2):c.470A>G (p.Glu157Gly) single nucleotide variant not specified [RCV004294920] Chr11:34357114 [GRCh38]
Chr11:34378661 [GRCh37]
Chr11:11p13		 uncertain significance
GRCh37/hg19 11p13(chr11:33221821-34569417)x1 copy number loss not provided [RCV001006402] Chr11:33221821..34569417 [GRCh37]
Chr11:11p13		 uncertain significance
GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1 copy number loss not provided [RCV000849589] Chr11:22079154..35597645 [GRCh37]
Chr11:11p14.3-13		 pathogenic
GRCh37/hg19 11p13-12(chr11:34183318-36860753)x3 copy number gain not provided [RCV000845975] Chr11:34183318..36860753 [GRCh37]
Chr11:11p13-12		 uncertain significance
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13		 pathogenic
GRCh37/hg19 11p13-12(chr11:32782607-36404823) copy number gain not specified [RCV002052921] Chr11:32782607..36404823 [GRCh37]
Chr11:11p13-12		 uncertain significance
GRCh37/hg19 11p13-12(chr11:34189942-36857171) copy number gain not specified [RCV002052922] Chr11:34189942..36857171 [GRCh37]
Chr11:11p13-12		 uncertain significance
NM_145804.3(ABTB2):c.2462C>G (p.Pro821Arg) single nucleotide variant not specified [RCV004323635] Chr11:34160289 [GRCh38]
Chr11:34181836 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2188G>A (p.Val730Met) single nucleotide variant not specified [RCV004215371] Chr11:34162606 [GRCh38]
Chr11:34184153 [GRCh37]
Chr11:11p13		 uncertain significance
GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1 copy number loss not provided [RCV002472502] Chr11:31372721..38259316 [GRCh37]
Chr11:11p13-12		 pathogenic
NM_145804.3(ABTB2):c.3061A>G (p.Ile1021Val) single nucleotide variant not specified [RCV004148959] Chr11:34152404 [GRCh38]
Chr11:34173951 [GRCh37]
Chr11:11p13		 likely benign
NM_145804.3(ABTB2):c.635G>T (p.Arg212Leu) single nucleotide variant not specified [RCV004098812] Chr11:34356949 [GRCh38]
Chr11:34378496 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1388G>A (p.Arg463Gln) single nucleotide variant not specified [RCV004245741] Chr11:34173164 [GRCh38]
Chr11:34194711 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2665G>A (p.Glu889Lys) single nucleotide variant not specified [RCV004120243] Chr11:34159328 [GRCh38]
Chr11:34180875 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2041C>A (p.Leu681Met) single nucleotide variant not specified [RCV004134257] Chr11:34162753 [GRCh38]
Chr11:34184300 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2966G>A (p.Arg989Gln) single nucleotide variant not specified [RCV004109909] Chr11:34152499 [GRCh38]
Chr11:34174046 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1428G>T (p.Arg476Ser) single nucleotide variant not specified [RCV004133785] Chr11:34171041 [GRCh38]
Chr11:34192588 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2386A>C (p.Lys796Gln) single nucleotide variant not specified [RCV004246888] Chr11:34160914 [GRCh38]
Chr11:34182461 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2590G>A (p.Val864Met) single nucleotide variant not specified [RCV004108605] Chr11:34159922 [GRCh38]
Chr11:34181469 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1165T>G (p.Tyr389Asp) single nucleotide variant not specified [RCV004148160] Chr11:34197404 [GRCh38]
Chr11:34218951 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.240A>T (p.Glu80Asp) single nucleotide variant not specified [RCV004112181] Chr11:34357344 [GRCh38]
Chr11:34378891 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.901G>C (p.Ala301Pro) single nucleotide variant not specified [RCV004153742] Chr11:34204673 [GRCh38]
Chr11:34226220 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2390C>A (p.Thr797Asn) single nucleotide variant not specified [RCV004131788] Chr11:34160910 [GRCh38]
Chr11:34182457 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2480G>A (p.Arg827Gln) single nucleotide variant not specified [RCV004082772] Chr11:34160271 [GRCh38]
Chr11:34181818 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2119G>A (p.Val707Met) single nucleotide variant not specified [RCV004153741] Chr11:34162675 [GRCh38]
Chr11:34184222 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1657C>T (p.Pro553Ser) single nucleotide variant not specified [RCV004157073] Chr11:34167357 [GRCh38]
Chr11:34188904 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2213C>G (p.Ala738Gly) single nucleotide variant not specified [RCV004213729] Chr11:34162581 [GRCh38]
Chr11:34184128 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2407G>A (p.Val803Ile) single nucleotide variant not specified [RCV004130645] Chr11:34160344 [GRCh38]
Chr11:34181891 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2847G>A (p.Met949Ile) single nucleotide variant not specified [RCV004186642] Chr11:34154298 [GRCh38]
Chr11:34175845 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1204C>T (p.Pro402Ser) single nucleotide variant not specified [RCV004143854] Chr11:34197365 [GRCh38]
Chr11:34218912 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1103G>A (p.Arg368His) single nucleotide variant not specified [RCV004109601] Chr11:34197466 [GRCh38]
Chr11:34219013 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.394C>T (p.Leu132Phe) single nucleotide variant not specified [RCV004242656] Chr11:34357190 [GRCh38]
Chr11:34378737 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2479C>T (p.Arg827Trp) single nucleotide variant not specified [RCV004206064] Chr11:34160272 [GRCh38]
Chr11:34181819 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2450G>C (p.Ser817Thr) single nucleotide variant not specified [RCV004130270] Chr11:34160301 [GRCh38]
Chr11:34181848 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1313G>A (p.Arg438His) single nucleotide variant not specified [RCV004072285] Chr11:34173239 [GRCh38]
Chr11:34194786 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2119G>C (p.Val707Leu) single nucleotide variant not specified [RCV004080869] Chr11:34162675 [GRCh38]
Chr11:34184222 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.3022C>G (p.Leu1008Val) single nucleotide variant not specified [RCV004172664] Chr11:34152443 [GRCh38]
Chr11:34173990 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.71G>A (p.Gly24Glu) single nucleotide variant not specified [RCV004095995] Chr11:34357513 [GRCh38]
Chr11:34379060 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1102C>T (p.Arg368Cys) single nucleotide variant not specified [RCV004143340] Chr11:34197467 [GRCh38]
Chr11:34219014 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2033C>T (p.Ala678Val) single nucleotide variant not specified [RCV004076441] Chr11:34162761 [GRCh38]
Chr11:34184308 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1787G>A (p.Gly596Asp) single nucleotide variant not specified [RCV004180145] Chr11:34165325 [GRCh38]
Chr11:34186872 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.650C>T (p.Thr217Ile) single nucleotide variant not specified [RCV004168427] Chr11:34356934 [GRCh38]
Chr11:34378481 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2248G>A (p.Glu750Lys) single nucleotide variant not specified [RCV004171589] Chr11:34161052 [GRCh38]
Chr11:34182599 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1103G>T (p.Arg368Leu) single nucleotide variant not specified [RCV004173307] Chr11:34197466 [GRCh38]
Chr11:34219013 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1591G>A (p.Ala531Thr) single nucleotide variant not specified [RCV004177024] Chr11:34167965 [GRCh38]
Chr11:34189512 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1993G>A (p.Val665Ile) single nucleotide variant not specified [RCV004290495] Chr11:34162801 [GRCh38]
Chr11:34184348 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.329A>G (p.Lys110Arg) single nucleotide variant not specified [RCV004273754] Chr11:34357255 [GRCh38]
Chr11:34378802 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1684A>G (p.Ile562Val) single nucleotide variant not specified [RCV004282153] Chr11:34167330 [GRCh38]
Chr11:34188877 [GRCh37]
Chr11:11p13		 likely benign
NM_145804.3(ABTB2):c.2138G>A (p.Arg713His) single nucleotide variant not specified [RCV004250492] Chr11:34162656 [GRCh38]
Chr11:34184203 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1690C>T (p.Pro564Ser) single nucleotide variant not specified [RCV004354945] Chr11:34167324 [GRCh38]
Chr11:34188871 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1423C>T (p.Arg475Trp) single nucleotide variant not specified [RCV004352484] Chr11:34171046 [GRCh38]
Chr11:34192593 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2969A>C (p.Gln990Pro) single nucleotide variant not specified [RCV004355649] Chr11:34152496 [GRCh38]
Chr11:34174043 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2110G>A (p.Glu704Lys) single nucleotide variant not specified [RCV004344821] Chr11:34162684 [GRCh38]
Chr11:34184231 [GRCh37]
Chr11:11p13		 uncertain significance
GRCh37/hg19 11p13(chr11:34251536-34618202)x3 copy number gain not provided [RCV003484835] Chr11:34251536..34618202 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1166A>T (p.Tyr389Phe) single nucleotide variant not specified [RCV004423803] Chr11:34197403 [GRCh38]
Chr11:34218950 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1216C>A (p.Pro406Thr) single nucleotide variant not specified [RCV004423813] Chr11:34197353 [GRCh38]
Chr11:34218900 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1324G>A (p.Val442Met) single nucleotide variant not specified [RCV004423825] Chr11:34173228 [GRCh38]
Chr11:34194775 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2162T>C (p.Met721Thr) single nucleotide variant not specified [RCV004425884] Chr11:34162632 [GRCh38]
Chr11:34184179 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2983C>T (p.Arg995Cys) single nucleotide variant not specified [RCV004425964] Chr11:34152482 [GRCh38]
Chr11:34174029 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2827T>C (p.Cys943Arg) single nucleotide variant not specified [RCV004425950] Chr11:34154318 [GRCh38]
Chr11:34175865 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2857G>A (p.Val953Met) single nucleotide variant not specified [RCV004425952] Chr11:34154288 [GRCh38]
Chr11:34175835 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2916G>C (p.Glu972Asp) single nucleotide variant not specified [RCV004425955] Chr11:34152549 [GRCh38]
Chr11:34174096 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1462C>G (p.Gln488Glu) single nucleotide variant not specified [RCV004423836] Chr11:34171007 [GRCh38]
Chr11:34192554 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1804G>A (p.Gly602Ser) single nucleotide variant not specified [RCV004423869] Chr11:34165308 [GRCh38]
Chr11:34186855 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.190C>T (p.Arg64Cys) single nucleotide variant not specified [RCV004423875] Chr11:34357394 [GRCh38]
Chr11:34378941 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.769G>A (p.Ala257Thr) single nucleotide variant not specified [RCV004426000] Chr11:34356815 [GRCh38]
Chr11:34378362 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.83G>C (p.Arg28Pro) single nucleotide variant not specified [RCV004426005] Chr11:34357501 [GRCh38]
Chr11:34379048 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2956G>A (p.Asp986Asn) single nucleotide variant not specified [RCV004425959] Chr11:34152509 [GRCh38]
Chr11:34174056 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.703A>G (p.Met235Val) single nucleotide variant not specified [RCV004425992] Chr11:34356881 [GRCh38]
Chr11:34378428 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.493G>C (p.Val165Leu) single nucleotide variant not specified [RCV004425985] Chr11:34357091 [GRCh38]
Chr11:34378638 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2222T>C (p.Val741Ala) single nucleotide variant not specified [RCV004425900] Chr11:34161078 [GRCh38]
Chr11:34182625 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1573C>A (p.Pro525Thr) single nucleotide variant not specified [RCV004423845] Chr11:34167983 [GRCh38]
Chr11:34189530 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1934C>T (p.Ser645Phe) single nucleotide variant not specified [RCV004423879] Chr11:34164740 [GRCh38]
Chr11:34186287 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2545T>C (p.Phe849Leu) single nucleotide variant not specified [RCV004365369] Chr11:34159967 [GRCh38]
Chr11:34181514 [GRCh37]
Chr11:11p13		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_145804.3(ABTB2):c.1178G>A (p.Cys393Tyr) single nucleotide variant not specified [RCV004279543] Chr11:34197391 [GRCh38]
Chr11:34218938 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1315A>G (p.Ser439Gly) single nucleotide variant not specified [RCV004276930] Chr11:34173237 [GRCh38]
Chr11:34194784 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.1069C>T (p.Arg357Cys) single nucleotide variant not specified [RCV004273922] Chr11:34197500 [GRCh38]
Chr11:34219047 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.2168A>T (p.Tyr723Phe) single nucleotide variant not specified [RCV004337660] Chr11:34162626 [GRCh38]
Chr11:34184173 [GRCh37]
Chr11:11p13		 uncertain significance
NM_145804.3(ABTB2):c.527T>A (p.Leu176Gln) single nucleotide variant not specified [RCV004356563] Chr11:34357057 [GRCh38]
Chr11:34378604 [GRCh37]
Chr11:11p13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1859
Count of miRNA genes:721
Interacting mature miRNAs:846
Transcripts:ENST00000298992, ENST00000435224, ENST00000530814
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.

Markers in Region
RH92826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371134,180,972 - 34,181,131UniSTSGRCh37
Build 361134,137,548 - 34,137,707RGDNCBI36
Celera1134,328,516 - 34,328,675RGD
Cytogenetic Map11p13UniSTS
HuRef1133,877,607 - 33,877,766UniSTS
GeneMap99-GB4 RH Map11128.02UniSTS
RH93895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371134,172,652 - 34,172,832UniSTSGRCh37
Build 361134,129,228 - 34,129,408RGDNCBI36
Celera1134,320,196 - 34,320,376RGD
Cytogenetic Map11p13UniSTS
HuRef1133,869,287 - 33,869,467UniSTS
GeneMap99-GB4 RH Map11129.64UniSTS
RH120755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371134,373,301 - 34,373,631UniSTSGRCh37
Build 361134,329,877 - 34,330,207RGDNCBI36
Celera1134,520,515 - 34,520,845RGD
Cytogenetic Map11p13UniSTS
HuRef1134,070,586 - 34,070,916UniSTS
TNG Radiation Hybrid Map1116144.0UniSTS
D11S3333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371134,174,191 - 34,174,485UniSTSGRCh37
Build 361134,130,767 - 34,131,061RGDNCBI36
Celera1134,321,735 - 34,322,029RGD
Cytogenetic Map11p13UniSTS
HuRef1133,870,826 - 33,871,120UniSTS
D11S4537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371134,238,434 - 34,238,547UniSTSGRCh37
GRCh371134,238,330 - 34,238,547UniSTSGRCh37
Build 361134,194,906 - 34,195,123RGDNCBI36
Celera1134,385,557 - 34,385,774RGD
Celera1134,385,661 - 34,385,774UniSTS
Cytogenetic Map11p13UniSTS
HuRef1133,934,838 - 33,935,055UniSTS
HuRef1133,934,942 - 33,935,055UniSTS
Stanford-G3 RH Map111610.0UniSTS
ABTB2__4237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371134,172,493 - 34,173,228UniSTSGRCh37
Build 361134,129,069 - 34,129,804RGDNCBI36
Celera1134,320,037 - 34,320,772RGD
HuRef1133,869,128 - 33,869,863UniSTS
D11S4537  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p13UniSTS


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
Medium 284 1084 283 129 257 110 2173 516 915 188 493 248 31 32 1610 2
Low 2151 1621 1442 495 1354 355 2184 1674 2817 229 967 1362 144 1 1172 1178 4 2
Below cutoff 4 286 1 325 7 2 2 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000435224   ⟹   ENSP00000410157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1134,150,987 - 34,358,010 (-)Ensembl
RefSeq Acc Id: ENST00000530814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1134,173,174 - 34,242,545 (-)Ensembl
RefSeq Acc Id: NM_145804   ⟹   NP_665803
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381134,150,987 - 34,358,010 (-)NCBI
GRCh371134,172,534 - 34,379,555 (-)RGD
Build 361134,129,111 - 34,335,378 (-)NCBI Archive
Celera1134,320,078 - 34,526,769 (-)RGD
HuRef1133,869,169 - 34,076,838 (-)ENTREZGENE
CHM1_11134,171,903 - 34,378,573 (-)NCBI
T2T-CHM13v2.01134,287,990 - 34,494,746 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_665803   ⟸   NM_145804
- UniProtKB: Q6MZW4 (UniProtKB/Swiss-Prot),   Q52LD6 (UniProtKB/Swiss-Prot),   E9PRW7 (UniProtKB/Swiss-Prot),   A8K6S9 (UniProtKB/Swiss-Prot),   Q8NB44 (UniProtKB/Swiss-Prot),   Q8N961 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000410157   ⟸   ENST00000435224
Protein Domains
BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N961-F1-model_v2 AlphaFold Q8N961 1-1025 view protein structure

Promoters
RGD ID:6788411
Promoter ID:HG_KWN:12610
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,   NB4
Transcripts:NM_145804,   OTTHUMT00000103311
Position:
Human AssemblyChrPosition (strand)Source
Build 361134,336,016 - 34,336,652 (-)MPROMDB
RGD ID:7220039
Promoter ID:EPDNEW_H15765
Type:initiation region
Name:ABTB2_1
Description:ankyrin repeat and BTB domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381134,358,008 - 34,358,068EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23842 AgrOrtholog
COSMIC ABTB2 COSMIC
Ensembl Genes ENSG00000166016 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000435224 ENTREZGENE
  ENST00000435224.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.20.10 UniProtKB/Swiss-Prot
  1.25.40.20 UniProtKB/Swiss-Prot
GTEx ENSG00000166016 GTEx
HGNC ID HGNC:23842 ENTREZGENE
Human Proteome Map ABTB2 Human Proteome Map
InterPro ABTB2_BTB_POZ UniProtKB/Swiss-Prot
  Ankyrin_rpt UniProtKB/Swiss-Prot
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot
  BTB/POZ_dom UniProtKB/Swiss-Prot
  Histone-fold UniProtKB/Swiss-Prot
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot
KEGG Report hsa:25841 UniProtKB/Swiss-Prot
NCBI Gene 25841 ENTREZGENE
PANTHER ANKYRIN REPEAT AND BTB/POZ DOMAIN-CONTAINING UniProtKB/Swiss-Prot
  ANKYRIN REPEAT AND BTB/POZ DOMAIN-CONTAINING PROTEIN 2 UniProtKB/Swiss-Prot
Pfam Ank UniProtKB/Swiss-Prot
  Ank_2 UniProtKB/Swiss-Prot
  BTB UniProtKB/Swiss-Prot
PharmGKB PA134937734 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot
  ANK_REPEAT UniProtKB/Swiss-Prot
  BTB UniProtKB/Swiss-Prot
SMART ANK UniProtKB/Swiss-Prot
  BTB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47113 UniProtKB/Swiss-Prot
  SSF48403 UniProtKB/Swiss-Prot
  SSF54695 UniProtKB/Swiss-Prot
UniProt A8K6S9 ENTREZGENE
  ABTB2_HUMAN UniProtKB/Swiss-Prot
  E9PRW7 ENTREZGENE
  Q52LD6 ENTREZGENE
  Q6MZW4 ENTREZGENE
  Q8N961 ENTREZGENE
  Q8NB44 ENTREZGENE
UniProt Secondary A8K6S9 UniProtKB/Swiss-Prot
  E9PRW7 UniProtKB/Swiss-Prot
  Q52LD6 UniProtKB/Swiss-Prot
  Q6MZW4 UniProtKB/Swiss-Prot
  Q8NB44 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ABTB2  ankyrin repeat and BTB domain containing 2    ankyrin repeat and BTB (POZ) domain containing 2  Symbol and/or name change 5135510 APPROVED