ASB2 (ankyrin repeat and SOCS box containing 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: ASB2 (ankyrin repeat and SOCS box containing 2) Homo sapiens
Analyze
Symbol: ASB2
Name: ankyrin repeat and SOCS box containing 2
RGD ID: 1315012
HGNC Page HGNC:16012
Description: Enables cullin family protein binding activity. Contributes to ubiquitin protein ligase activity. Involved in cardiac muscle cell differentiation; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein ubiquitination. Part of ubiquitin ligase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ankyrin repeat and SOCS box protein 2; ankyrin repeat and SOCS box-2 containing protein; ankyrin repeat and SOCS box-containing protein 2a; ankyrin repeat-containing protein ASB-2; ASB-2; MGC40044
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
GRCh381493,934,166 - 93,976,570 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1493,934,166 - 93,976,739 (-)EnsemblGRCh38hg38GRCh38
GRCh371494,400,512 - 94,442,916 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361493,470,266 - 93,493,520 (-)NCBINCBI36Build 36hg18NCBI36
Build 341493,470,265 - 93,493,520NCBI
Celera1474,454,282 - 74,477,544 (-)NCBICelera
Cytogenetic Map14q32.12NCBI
HuRef1474,580,269 - 74,622,812 (-)NCBIHuRef
CHM1_11494,338,550 - 94,381,110 (-)NCBICHM1_1
T2T-CHM13v2.01488,161,475 - 88,203,881 (-)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)
1-naphthyl isothiocyanate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrotoluene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-azacytidine  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
aristolochic acid A  (EXP)
Azoxymethane  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
cannabidiol  (ISO)
cantharidin  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
Dibutyl phosphate  (EXP)
dichloroacetic acid  (ISO)
diuron  (EXP)
doxorubicin  (EXP,ISO)
fenthion  (ISO)
genistein  (ISO)
GW 4064  (ISO)
hexadecanoic acid  (EXP)
irinotecan  (ISO)
lead(0)  (EXP)
methapyrilene  (EXP)
methidathion  (ISO)
Muraglitazar  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
nitrofen  (ISO)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
pentanal  (EXP)
perfluorooctanoic acid  (ISO)
progesterone  (EXP)
propanal  (EXP)
quercetin  (EXP)
rotenone  (EXP,ISO)
silicon dioxide  (EXP)
sulforaphane  (ISO)
tamibarotene  (EXP)
Tesaglitazar  (ISO)
tetrachloroethene  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
Tungsten carbide  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytoskeleton  (IEA)
cytosol  (TAS)
nucleus  (IBA)
stress fiber  (IEA)
ubiquitin ligase complex  (IDA)
Z disc  (IEA,ISS)

Molecular Function

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:9419338   PMID:11111040   PMID:11566180   PMID:11682484   PMID:12076535   PMID:12477932   PMID:14702039   PMID:15014966   PMID:15231748   PMID:15489334   PMID:15590664   PMID:16325183  
PMID:18029348   PMID:18799729   PMID:19159283   PMID:19300455   PMID:19376791   PMID:21119685   PMID:21737450   PMID:21750192   PMID:21873635   PMID:21969365   PMID:22020285   PMID:22174154  
PMID:22382022   PMID:22916308   PMID:22939624   PMID:24044920   PMID:24052262   PMID:24337577   PMID:26537633   PMID:28514442   PMID:28786561   PMID:29955039   PMID:30021884   PMID:30116272  
PMID:32179481   PMID:32814053   PMID:33961781   PMID:36688959   PMID:38496616   PMID:39358380  


Genomics

Comparative Map Data
ASB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381493,934,166 - 93,976,570 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1493,934,166 - 93,976,739 (-)EnsemblGRCh38hg38GRCh38
GRCh371494,400,512 - 94,442,916 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361493,470,266 - 93,493,520 (-)NCBINCBI36Build 36hg18NCBI36
Build 341493,470,265 - 93,493,520NCBI
Celera1474,454,282 - 74,477,544 (-)NCBICelera
Cytogenetic Map14q32.12NCBI
HuRef1474,580,269 - 74,622,812 (-)NCBIHuRef
CHM1_11494,338,550 - 94,381,110 (-)NCBICHM1_1
T2T-CHM13v2.01488,161,475 - 88,203,881 (-)NCBIT2T-CHM13v2.0
Asb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912103,287,401 - 103,322,260 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12103,287,401 - 103,322,260 (-)EnsemblGRCm39 Ensembl
GRCm3812103,321,142 - 103,356,001 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12103,321,142 - 103,356,001 (-)EnsemblGRCm38mm10GRCm38
MGSCv3712104,559,352 - 104,594,211 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612103,722,192 - 103,757,051 (-)NCBIMGSCv36mm8
Celera12104,538,189 - 104,572,686 (-)NCBICelera
Cytogenetic Map12ENCBI
cM Map1252.9NCBI
Asb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86128,239,550 - 128,275,833 (-)NCBIGRCr8
mRatBN7.26122,474,754 - 122,511,014 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6122,474,756 - 122,510,854 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6122,615,834 - 122,651,778 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06122,911,098 - 122,947,036 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06122,245,566 - 122,281,575 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06127,212,325 - 127,248,451 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6127,212,273 - 127,248,372 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06136,425,783 - 136,469,502 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46127,609,500 - 127,645,492 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16127,613,248 - 127,649,239 (-)NCBI
Celera6119,956,026 - 119,991,593 (-)NCBICelera
Cytogenetic Map6q32NCBI
Asb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543816,005,570 - 16,042,115 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543816,005,570 - 16,041,668 (-)NCBIChiLan1.0ChiLan1.0
ASB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21595,091,860 - 95,134,193 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11494,308,365 - 94,350,698 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01474,566,607 - 74,608,905 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11493,900,425 - 93,942,764 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1493,900,914 - 93,930,527 (-)Ensemblpanpan1.1panPan2
ASB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1863,008,206 - 63,051,809 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl863,008,575 - 63,051,581 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha862,585,084 - 62,628,410 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0863,279,448 - 63,322,854 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl863,277,026 - 63,322,847 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1862,957,212 - 63,000,493 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0863,008,327 - 63,051,686 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0863,338,505 - 63,381,859 (-)NCBIUU_Cfam_GSD_1.0
Asb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864011,617,225 - 11,653,472 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367331,813,548 - 1,849,806 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367331,813,569 - 1,849,805 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl7115,210,891 - 115,258,960 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.17115,210,885 - 115,258,863 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27121,998,766 - 122,044,049 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ASB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12471,687,282 - 71,730,684 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2471,687,238 - 71,730,696 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605358,925,221 - 58,968,980 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Asb2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473410,316,299 - 10,352,515 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473410,317,932 - 10,352,300 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASB2
67 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1 copy number loss See cases [RCV000051551] Chr14:90255156..95274696 [GRCh38]
Chr14:90721500..95741033 [GRCh37]
Chr14:89791253..94810786 [NCBI36]
Chr14:14q32.11-32.13		 pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2		 pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
NM_001202429.1(ASB2):c.230C>T (p.Ser77Leu) single nucleotide variant Malignant melanoma [RCV000070666] Chr14:93956847 [GRCh38]
Chr14:94423193 [GRCh37]
Chr14:93492946 [NCBI36]
Chr14:14q32.12		 not provided
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1 copy number loss not provided [RCV003312295] Chr14:88401076..94725706 [GRCh37]
Chr14:14q31.3-32.13		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3 copy number gain See cases [RCV000511246] Chr14:93498930..96059698 [GRCh37]
Chr14:14q32.12-32.13		 uncertain significance
NM_001202429.2(ASB2):c.829G>C (p.Val277Leu) single nucleotide variant not specified [RCV004329494] Chr14:93951050 [GRCh38]
Chr14:94417396 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1541C>A (p.Pro514Gln) single nucleotide variant not specified [RCV004312813] Chr14:93939184 [GRCh38]
Chr14:94405530 [GRCh37]
Chr14:14q32.12		 uncertain significance
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1 copy number loss not provided [RCV000683625] Chr14:84783137..96908198 [GRCh37]
Chr14:14q31.2-32.2		 pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33		 pathogenic
NM_001202429.2(ASB2):c.233C>T (p.Pro78Leu) single nucleotide variant not specified [RCV004282332] Chr14:93956844 [GRCh38]
Chr14:94423190 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.685G>A (p.Ala229Thr) single nucleotide variant not specified [RCV004314712] Chr14:93951194 [GRCh38]
Chr14:94417540 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.730G>A (p.Glu244Lys) single nucleotide variant not specified [RCV004295255] Chr14:93951149 [GRCh38]
Chr14:94417495 [GRCh37]
Chr14:14q32.12		 uncertain significance
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33		 pathogenic
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 copy number loss Deletion syndrome [RCV001004048] Chr14:84783523..96907490 [GRCh37]
Chr14:14q31.2-32.2		 pathogenic
GRCh37/hg19 14q32.12-32.13(chr14:94400492-96192218) copy number gain not specified [RCV002052453] Chr14:94400492..96192218 [GRCh37]
Chr14:14q32.12-32.13		 uncertain significance
GRCh37/hg19 14q32.12-32.13(chr14:94442454-95185710) copy number gain not specified [RCV002052454] Chr14:94442454..95185710 [GRCh37]
Chr14:14q32.12-32.13		 uncertain significance
GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741) copy number loss not specified [RCV002053117] Chr14:88345625..94773741 [GRCh37]
Chr14:14q31.3-32.13		 pathogenic
NC_000014.8:g.(?_93687728)_(95560403_?)del deletion DICER1-related tumor predisposition [RCV002044285] Chr14:93687728..95560403 [GRCh37]
Chr14:14q32.12-32.13		 likely pathogenic
NC_000014.8:g.(?_90429459)_(97347545_?)dup duplication not provided [RCV003109490] Chr14:90429459..97347545 [GRCh37]
Chr14:14q32.11-32.2		 uncertain significance
NC_000014.8:g.(?_90429459)_(94856914_?)dup duplication Achondrogenesis, type IA [RCV003113413] Chr14:90429459..94856914 [GRCh37]
Chr14:14q32.11-32.13		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_001202429.2(ASB2):c.1436C>A (p.Pro479His) single nucleotide variant not specified [RCV004325265] Chr14:93939289 [GRCh38]
Chr14:94405635 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.790G>C (p.Val264Leu) single nucleotide variant not specified [RCV004331538] Chr14:93951089 [GRCh38]
Chr14:94417435 [GRCh37]
Chr14:14q32.12		 uncertain significance
GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3 copy number gain not provided [RCV002472541] Chr14:81593708..97059276 [GRCh37]
Chr14:14q31.1-32.2		 likely pathogenic
NM_001202429.2(ASB2):c.1019C>T (p.Pro340Leu) single nucleotide variant not specified [RCV004286727] Chr14:93947382 [GRCh38]
Chr14:94413728 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.661G>A (p.Val221Met) single nucleotide variant not specified [RCV004238545] Chr14:93951218 [GRCh38]
Chr14:94417564 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1249T>C (p.Phe417Leu) single nucleotide variant not specified [RCV004214356] Chr14:93939476 [GRCh38]
Chr14:94405822 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.449A>G (p.Gln150Arg) single nucleotide variant not specified [RCV004153024] Chr14:93954346 [GRCh38]
Chr14:94420692 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.341A>G (p.Lys114Arg) single nucleotide variant not specified [RCV004234185] Chr14:93954454 [GRCh38]
Chr14:94420800 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.249G>A (p.Met83Ile) single nucleotide variant not specified [RCV004119540] Chr14:93956828 [GRCh38]
Chr14:94423174 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.349G>A (p.Asp117Asn) single nucleotide variant not specified [RCV004069810] Chr14:93954446 [GRCh38]
Chr14:94420792 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.622C>T (p.Pro208Ser) single nucleotide variant not specified [RCV004111891] Chr14:93953364 [GRCh38]
Chr14:94419710 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.913G>A (p.Ala305Thr) single nucleotide variant not specified [RCV004109210] Chr14:93947488 [GRCh38]
Chr14:94413834 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.591G>C (p.Glu197Asp) single nucleotide variant not specified [RCV004229178] Chr14:93953395 [GRCh38]
Chr14:94419741 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.586G>A (p.Ala196Thr) single nucleotide variant not specified [RCV004165031] Chr14:93953400 [GRCh38]
Chr14:94419746 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1358G>A (p.Cys453Tyr) single nucleotide variant not specified [RCV004208311] Chr14:93939367 [GRCh38]
Chr14:94405713 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1589C>A (p.Ala530Glu) single nucleotide variant not specified [RCV004180427] Chr14:93939136 [GRCh38]
Chr14:94405482 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1814G>A (p.Arg605Gln) single nucleotide variant not specified [RCV004072403] Chr14:93934750 [GRCh38]
Chr14:94401096 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1835G>T (p.Arg612Leu) single nucleotide variant not specified [RCV004179399] Chr14:93934729 [GRCh38]
Chr14:94401075 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1009G>A (p.Gly337Ser) single nucleotide variant not specified [RCV004599448] Chr14:93947392 [GRCh38]
Chr14:94413738 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.394G>A (p.Ala132Thr) single nucleotide variant not specified [RCV004096203] Chr14:93954401 [GRCh38]
Chr14:94420747 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1826G>T (p.Gly609Val) single nucleotide variant not specified [RCV004323001] Chr14:93934738 [GRCh38]
Chr14:94401084 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.988G>A (p.Ala330Thr) single nucleotide variant not specified [RCV004270608] Chr14:93947413 [GRCh38]
Chr14:94413759 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1666A>T (p.Ile556Phe) single nucleotide variant not specified [RCV004287490] Chr14:93937803 [GRCh38]
Chr14:94404149 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.247A>G (p.Met83Val) single nucleotide variant not specified [RCV004338964] Chr14:93956830 [GRCh38]
Chr14:94423176 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1163T>A (p.Leu388Gln) single nucleotide variant not specified [RCV004348619] Chr14:93939562 [GRCh38]
Chr14:94405908 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1359C>G (p.Cys453Trp) single nucleotide variant not specified [RCV004346628] Chr14:93939366 [GRCh38]
Chr14:94405712 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1390G>A (p.Gly464Ser) single nucleotide variant not specified [RCV004357838] Chr14:93939335 [GRCh38]
Chr14:94405681 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1835G>A (p.Arg612His) single nucleotide variant not specified [RCV004337311] Chr14:93934729 [GRCh38]
Chr14:94401075 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.993C>A (p.Asn331Lys) single nucleotide variant not specified [RCV004357580] Chr14:93947408 [GRCh38]
Chr14:94413754 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1589C>T (p.Ala530Val) single nucleotide variant not specified [RCV004350252] Chr14:93939136 [GRCh38]
Chr14:94405482 [GRCh37]
Chr14:14q32.12		 likely benign
NM_001202429.2(ASB2):c.1672G>A (p.Asp558Asn) single nucleotide variant not specified [RCV004335441] Chr14:93937797 [GRCh38]
Chr14:94404143 [GRCh37]
Chr14:14q32.12		 uncertain significance
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33		 pathogenic
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
NM_001202429.2(ASB2):c.1033T>C (p.Ser345Pro) single nucleotide variant not specified [RCV004420574] Chr14:93947368 [GRCh38]
Chr14:94413714 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1577A>G (p.Asn526Ser) single nucleotide variant not specified [RCV004420581] Chr14:93939148 [GRCh38]
Chr14:94405494 [GRCh37]
Chr14:14q32.12		 likely benign
NM_001202429.2(ASB2):c.209C>T (p.Ser70Phe) single nucleotide variant not specified [RCV004420585] Chr14:93956868 [GRCh38]
Chr14:94423214 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.526G>A (p.Val176Ile) single nucleotide variant not specified [RCV004420588] Chr14:93953460 [GRCh38]
Chr14:94419806 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.708C>A (p.Asn236Lys) single nucleotide variant not specified [RCV004420590] Chr14:93951171 [GRCh38]
Chr14:94417517 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.644G>A (p.Arg215His) single nucleotide variant not specified [RCV004420589] Chr14:93951235 [GRCh38]
Chr14:94417581 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1228C>T (p.Arg410Trp) single nucleotide variant not specified [RCV004420576] Chr14:93939497 [GRCh38]
Chr14:94405843 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1573T>G (p.Phe525Val) single nucleotide variant not specified [RCV004420580] Chr14:93939152 [GRCh38]
Chr14:94405498 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1671C>G (p.Ile557Met) single nucleotide variant not specified [RCV004420582] Chr14:93937798 [GRCh38]
Chr14:94404144 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.845G>A (p.Gly282Glu) single nucleotide variant not specified [RCV004420591] Chr14:93951034 [GRCh38]
Chr14:94417380 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1135C>A (p.Arg379Ser) single nucleotide variant not specified [RCV004420575] Chr14:93939590 [GRCh38]
Chr14:94405936 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1291C>A (p.Leu431Met) single nucleotide variant not specified [RCV004420577] Chr14:93939434 [GRCh38]
Chr14:94405780 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1783C>A (p.Pro595Thr) single nucleotide variant not specified [RCV004420583] Chr14:93934781 [GRCh38]
Chr14:94401127 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.476G>A (p.Arg159Gln) single nucleotide variant not specified [RCV004420587] Chr14:93954319 [GRCh38]
Chr14:94420665 [GRCh37]
Chr14:14q32.12		 likely benign
NM_001202429.2(ASB2):c.1834C>T (p.Arg612Cys) single nucleotide variant not specified [RCV004420584] Chr14:93934730 [GRCh38]
Chr14:94401076 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.458G>A (p.Cys153Tyr) single nucleotide variant not specified [RCV004420586] Chr14:93954337 [GRCh38]
Chr14:94420683 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1537G>C (p.Gly513Arg) single nucleotide variant not specified [RCV004667122] Chr14:93939188 [GRCh38]
Chr14:94405534 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.898C>A (p.Gln300Lys) single nucleotide variant not specified [RCV004665927] Chr14:93947503 [GRCh38]
Chr14:94413849 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1505G>A (p.Gly502Asp) single nucleotide variant not specified [RCV004665948] Chr14:93939220 [GRCh38]
Chr14:94405566 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.709C>T (p.Arg237Cys) single nucleotide variant not specified [RCV004665916] Chr14:93951170 [GRCh38]
Chr14:94417516 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1457T>C (p.Met486Thr) single nucleotide variant not specified [RCV004665956] Chr14:93939268 [GRCh38]
Chr14:94405614 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1696A>G (p.Asn566Asp) single nucleotide variant not specified [RCV004667131] Chr14:93937773 [GRCh38]
Chr14:94404119 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.907G>A (p.Asp303Asn) single nucleotide variant not specified [RCV004667112] Chr14:93947494 [GRCh38]
Chr14:94413840 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1143C>G (p.His381Gln) single nucleotide variant not specified [RCV004663926] Chr14:93939582 [GRCh38]
Chr14:94405928 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.446G>A (p.Gly149Asp) single nucleotide variant not specified [RCV004667109] Chr14:93954349 [GRCh38]
Chr14:94420695 [GRCh37]
Chr14:14q32.12		 uncertain significance
NM_001202429.2(ASB2):c.1561C>G (p.Pro521Ala) single nucleotide variant not specified [RCV004667128] Chr14:93939164 [GRCh38]
Chr14:94405510 [GRCh37]
Chr14:14q32.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2867
Count of miRNA genes:943
Interacting mature miRNAs:1167
Transcripts:ENST00000315988, ENST00000553883, ENST00000555019, ENST00000555287, ENST00000555374, ENST00000555507, ENST00000556062, ENST00000556337, ENST00000556793, ENST00000557613
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407079552GWAS728528_Hbasophil count, eosinophil count QTL GWAS728528 (human)4e-20eosinophil quantity (VT:0002602)blood granulocyte count (CMO:0000111)149395118593951186Human
406963460GWAS612436_Heosinophil count QTL GWAS612436 (human)4e-46eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
597282768GWAS1378842_Heosinophil count QTL GWAS1378842 (human)1e-28eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
597057437GWAS1153511_Heosinophil count QTL GWAS1153511 (human)2e-54eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
407078163GWAS727139_Heosinophil percentage of granulocytes QTL GWAS727139 (human)9e-17eosinophil percentage of granulocytes149395118593951186Human
597594510GWAS1651370_Heosinophil count QTL GWAS1651370 (human)9e-25eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
597263178GWAS1359252_Heosinophil count QTL GWAS1359252 (human)3e-09eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
597055042GWAS1151116_Heosinophil count QTL GWAS1151116 (human)1e-38eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
597094147GWAS1190221_H3-hydroxy-1-methylpropylmercapturic acid measurement QTL GWAS1190221 (human)5e-093-hydroxy-1-methylpropylmercapturic acid measurement149397039393970394Human
597052108GWAS1148182_Heosinophil count QTL GWAS1148182 (human)3e-50eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
597585342GWAS1642202_Heosinophil count QTL GWAS1642202 (human)2e-31eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
597586298GWAS1643158_Heosinophil count QTL GWAS1643158 (human)1e-30eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
597587579GWAS1644439_Heosinophil count QTL GWAS1644439 (human)2e-19eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
406908646GWAS557622_Hacute myeloid leukemia QTL GWAS557622 (human)2e-23leukocyte integrity trait (VT:0010898)149397610993976110Human
597594873GWAS1651733_Heosinophil count QTL GWAS1651733 (human)1e-62eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
406908647GWAS557623_Hacute myeloid leukemia QTL GWAS557623 (human)2e-20leukocyte integrity trait (VT:0010898)149397610993976110Human
597596471GWAS1653331_Heosinophil count QTL GWAS1653331 (human)2e-47eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
597596594GWAS1653454_Heosinophil count QTL GWAS1653454 (human)6e-61eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
597587057GWAS1643917_Heosinophil count QTL GWAS1643917 (human)1e-24eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
407043697GWAS692673_Heosinophil percentage of leukocytes QTL GWAS692673 (human)2e-37eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)149395118593951186Human
407079280GWAS728256_Hneutrophil percentage of granulocytes QTL GWAS728256 (human)1e-15neutrophil percentage of granulocytes149395118593951186Human
407085366GWAS734342_Heosinophil count QTL GWAS734342 (human)1e-20eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
597238892GWAS1334966_Heosinophil count QTL GWAS1334966 (human)2e-17eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
597594791GWAS1651651_Heosinophil count QTL GWAS1651651 (human)2e-52eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
597588455GWAS1645315_Heosinophil count QTL GWAS1645315 (human)8e-35eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)149395118593951186Human
407084478GWAS733454_Heosinophil percentage of leukocytes QTL GWAS733454 (human)5e-19eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)149395118593951186Human

Markers in Region
RH65774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371494,400,548 - 94,400,703UniSTSGRCh37
Build 361493,470,301 - 93,470,456RGDNCBI36
Celera1474,454,317 - 74,454,472RGD
Cytogenetic Map14q31-q32UniSTS
HuRef1474,580,318 - 74,580,473UniSTS
GeneMap99-GB4 RH Map14248.82UniSTS


Expression

RNA-SEQ Expression

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
renal system
reproductive system
respiratory system
sensory system
1204 2361 2788 2243 4898 1702 2248 3 610 1906 451 2258 7166 6409 24 3670 834 1705 1529 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001202429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB056723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB488462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF159164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ251238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL079302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL132642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000315988   ⟹   ENSP00000320675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1493,934,166 - 93,957,421 (-)Ensembl
Ensembl Acc Id: ENST00000553883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1493,934,167 - 93,940,495 (-)Ensembl
Ensembl Acc Id: ENST00000555019   ⟹   ENSP00000451575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1493,934,166 - 93,976,570 (-)Ensembl
Ensembl Acc Id: ENST00000555287   ⟹   ENSP00000451654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1493,953,405 - 93,976,719 (-)Ensembl
Ensembl Acc Id: ENST00000555374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1493,968,255 - 93,976,739 (-)Ensembl
Ensembl Acc Id: ENST00000555507   ⟹   ENSP00000450940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1493,937,719 - 93,955,579 (-)Ensembl
Ensembl Acc Id: ENST00000556062   ⟹   ENSP00000451694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1493,951,010 - 93,955,271 (-)Ensembl
Ensembl Acc Id: ENST00000556337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1493,939,335 - 93,976,730 (-)Ensembl
Ensembl Acc Id: ENST00000556793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1493,954,191 - 93,957,049 (-)Ensembl
Ensembl Acc Id: ENST00000557613   ⟹   ENSP00000451355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1493,954,323 - 93,974,083 (-)Ensembl
RefSeq Acc Id: NM_001202429   ⟹   NP_001189358
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381493,934,166 - 93,976,570 (-)NCBI
GRCh371494,400,499 - 94,443,085 (-)NCBI
HuRef1474,580,269 - 74,622,812 (-)ENTREZGENE
CHM1_11494,338,550 - 94,381,110 (-)NCBI
T2T-CHM13v2.01488,161,475 - 88,203,881 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016150   ⟹   NP_057234
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381493,934,166 - 93,957,047 (-)NCBI
GRCh371494,400,499 - 94,443,085 (-)NCBI
Build 361493,470,266 - 93,493,520 (-)NCBI Archive
HuRef1474,580,269 - 74,622,812 (-)ENTREZGENE
CHM1_11494,338,550 - 94,361,808 (-)NCBI
T2T-CHM13v2.01488,161,475 - 88,184,356 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005267758   ⟹   XP_005267815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381493,934,166 - 93,976,570 (-)NCBI
GRCh371494,400,499 - 94,443,085 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536834   ⟹   XP_011535136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381493,934,166 - 93,976,570 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536835   ⟹   XP_011535137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381493,934,166 - 93,955,282 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017021369   ⟹   XP_016876858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381493,934,166 - 93,976,570 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047431473   ⟹   XP_047287429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381493,934,166 - 93,976,570 (-)NCBI
RefSeq Acc Id: XM_054376211   ⟹   XP_054232186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01488,161,475 - 88,203,881 (-)NCBI
RefSeq Acc Id: XM_054376212   ⟹   XP_054232187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01488,161,475 - 88,203,881 (-)NCBI
RefSeq Acc Id: XM_054376213   ⟹   XP_054232188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01488,161,475 - 88,203,881 (-)NCBI
RefSeq Acc Id: XM_054376214   ⟹   XP_054232189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01488,161,475 - 88,203,881 (-)NCBI
RefSeq Acc Id: XM_054376215   ⟹   XP_054232190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01488,161,475 - 88,184,179 (-)NCBI
RefSeq Acc Id: XM_054376216   ⟹   XP_054232191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01488,161,475 - 88,184,005 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001189358 (Get FASTA)   NCBI Sequence Viewer  
  NP_057234 (Get FASTA)   NCBI Sequence Viewer  
  XP_005267815 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535136 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535137 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876858 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287429 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184955 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184956 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184957 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184958 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184959 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184960 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232186 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232187 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232188 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232189 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232190 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232191 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD45345 (Get FASTA)   NCBI Sequence Viewer  
  AAH32354 (Get FASTA)   NCBI Sequence Viewer  
  BAB64532 (Get FASTA)   NCBI Sequence Viewer  
  BAG37996 (Get FASTA)   NCBI Sequence Viewer  
  BAG51006 (Get FASTA)   NCBI Sequence Viewer  
  BAG51858 (Get FASTA)   NCBI Sequence Viewer  
  BAG64678 (Get FASTA)   NCBI Sequence Viewer  
  BAI77868 (Get FASTA)   NCBI Sequence Viewer  
  CAB70899 (Get FASTA)   NCBI Sequence Viewer  
  CAC17765 (Get FASTA)   NCBI Sequence Viewer  
  EAW81540 (Get FASTA)   NCBI Sequence Viewer  
  EAW81541 (Get FASTA)   NCBI Sequence Viewer  
  EAW81542 (Get FASTA)   NCBI Sequence Viewer  
  EAW81543 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000320675
  ENSP00000320675.4
  ENSP00000450940
  ENSP00000450940.1
  ENSP00000451355.1
  ENSP00000451575
  ENSP00000451575.1
  ENSP00000451654.1
  ENSP00000451694.1
  ENSP00000480388.1
  ENSP00000486208.1
  ENSP00000486398.1
  ENSP00000487105.1
  ENSP00000487399.1
  ENSP00000487497.1
GenBank Protein Q96Q27 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001189358   ⟸   NM_001202429
- Peptide Label: isoform 1
- UniProtKB: Q96Q27 (UniProtKB/Swiss-Prot),   Q9NSU5 (UniProtKB/Swiss-Prot),   B4E166 (UniProtKB/Swiss-Prot),   B2RDP9 (UniProtKB/Swiss-Prot),   Q9Y567 (UniProtKB/Swiss-Prot),   B3KPZ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_057234   ⟸   NM_016150
- Peptide Label: isoform 2
- UniProtKB: B3KPZ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005267815   ⟸   XM_005267758
- Peptide Label: isoform X1
- UniProtKB: Q96Q27 (UniProtKB/Swiss-Prot),   Q9NSU5 (UniProtKB/Swiss-Prot),   B4E166 (UniProtKB/Swiss-Prot),   B2RDP9 (UniProtKB/Swiss-Prot),   Q9Y567 (UniProtKB/Swiss-Prot),   B3KPZ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535136   ⟸   XM_011536834
- Peptide Label: isoform X3
- UniProtKB: B3KPZ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535137   ⟸   XM_011536835
- Peptide Label: isoform X5
- UniProtKB: G3V2Z2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876858   ⟸   XM_017021369
- Peptide Label: isoform X2
- UniProtKB: B3KPZ6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000451575   ⟸   ENST00000555019
Ensembl Acc Id: ENSP00000450940   ⟸   ENST00000555507
Ensembl Acc Id: ENSP00000451654   ⟸   ENST00000555287
Ensembl Acc Id: ENSP00000451694   ⟸   ENST00000556062
Ensembl Acc Id: ENSP00000451355   ⟸   ENST00000557613
Ensembl Acc Id: ENSP00000320675   ⟸   ENST00000315988
RefSeq Acc Id: XP_047287429   ⟸   XM_047431473
- Peptide Label: isoform X4
- UniProtKB: B3KPZ6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232189   ⟸   XM_054376214
- Peptide Label: isoform X4
- UniProtKB: B3KPZ6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232187   ⟸   XM_054376212
- Peptide Label: isoform X2
- UniProtKB: B3KPZ6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232188   ⟸   XM_054376213
- Peptide Label: isoform X3
- UniProtKB: B3KPZ6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232186   ⟸   XM_054376211
- Peptide Label: isoform X1
- UniProtKB: Q9NSU5 (UniProtKB/Swiss-Prot),   Q96Q27 (UniProtKB/Swiss-Prot),   B4E166 (UniProtKB/Swiss-Prot),   B2RDP9 (UniProtKB/Swiss-Prot),   Q9Y567 (UniProtKB/Swiss-Prot),   B3KPZ6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232190   ⟸   XM_054376215
- Peptide Label: isoform X5
- UniProtKB: G3V2Z2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232191   ⟸   XM_054376216
- Peptide Label: isoform X7
- UniProtKB: G3V2Z2 (UniProtKB/TrEMBL)
Protein Domains
SOCS box   UIM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96Q27-F1-model_v2 AlphaFold Q96Q27 1-635 view protein structure

Promoters
RGD ID:6791272
Promoter ID:HG_KWN:20064
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:UC001YCB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361493,475,551 - 93,476,687 (-)MPROMDB
RGD ID:6791274
Promoter ID:HG_KWN:20065
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001YCE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361493,491,256 - 93,492,597 (-)MPROMDB
RGD ID:6791271
Promoter ID:HG_KWN:20066
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:NM_016150
Position:
Human AssemblyChrPosition (strand)Source
Build 361493,493,031 - 93,494,387 (-)MPROMDB
RGD ID:6791273
Promoter ID:HG_KWN:20067
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC001YCD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361493,500,309 - 93,500,809 (-)MPROMDB
RGD ID:7228479
Promoter ID:EPDNEW_H19985
Type:multiple initiation site
Name:ASB2_2
Description:ankyrin repeat and SOCS box containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19986  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381493,976,558 - 93,976,618EPDNEW
RGD ID:7228481
Promoter ID:EPDNEW_H19986
Type:multiple initiation site
Name:ASB2_1
Description:ankyrin repeat and SOCS box containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19985  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381493,976,739 - 93,976,799EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16012 AgrOrtholog
COSMIC ASB2 COSMIC
Ensembl Genes ENSG00000100628 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000278693 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000315988 ENTREZGENE
  ENST00000315988.8 UniProtKB/Swiss-Prot
  ENST00000555019 ENTREZGENE
  ENST00000555019.6 UniProtKB/Swiss-Prot
  ENST00000555287.1 UniProtKB/TrEMBL
  ENST00000555507 ENTREZGENE
  ENST00000555507.5 UniProtKB/TrEMBL
  ENST00000556062.5 UniProtKB/TrEMBL
  ENST00000557613.1 UniProtKB/TrEMBL
  ENST00000612647.3 UniProtKB/Swiss-Prot
  ENST00000625949.1 UniProtKB/TrEMBL
  ENST00000626017.2 UniProtKB/TrEMBL
  ENST00000626296.2 UniProtKB/TrEMBL
  ENST00000628500.1 UniProtKB/TrEMBL
  ENST00000629617.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100628 GTEx
  ENSG00000278693 GTEx
HGNC ID HGNC:16012 ENTREZGENE
Human Proteome Map ASB2 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASB2_SOCS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS_box-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51676 UniProtKB/Swiss-Prot
NCBI Gene 51676 ENTREZGENE
OMIM 605759 OMIM
PANTHER ANKYRIN REPEAT AND PROTEIN KINASE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANKYRIN REPEAT AND SOCS BOX PROTEIN 2 UniProtKB/TrEMBL
  ANKYRIN REPEAT CONTAINING UniProtKB/TrEMBL
  ANKYRIN REPEAT-CONTAINING PROTEIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25030 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RNAcentral URS00008B4252 RNACentral
  URS00008C1C81 RNACentral
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOCS_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF158235 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ASB2_HUMAN UniProtKB/Swiss-Prot
  B2RDP9 ENTREZGENE
  B3KPZ6 ENTREZGENE, UniProtKB/TrEMBL
  B4E166 ENTREZGENE
  G3V2Z2 ENTREZGENE, UniProtKB/TrEMBL
  G3V3P8_HUMAN UniProtKB/TrEMBL
  G3V484_HUMAN UniProtKB/TrEMBL
  G3V4B2_HUMAN UniProtKB/TrEMBL
  Q96Q27 ENTREZGENE
  Q9NSU5 ENTREZGENE
  Q9Y567 ENTREZGENE
UniProt Secondary B2RDP9 UniProtKB/Swiss-Prot
  B4E166 UniProtKB/Swiss-Prot
  Q9NSU5 UniProtKB/Swiss-Prot
  Q9Y567 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 ASB2  ankyrin repeat and SOCS box containing 2  ASB2  ankyrin repeat and SOCS box-containing 2  Symbol and/or name change 5135510 APPROVED