ADAMTS20 (ADAM metallopeptidase with thrombospondin type 1 motif 20) - 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   new 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
Gene: ADAMTS20 (ADAM metallopeptidase with thrombospondin type 1 motif 20) Homo sapiens
Analyze
Symbol: ADAMTS20
Name: ADAM metallopeptidase with thrombospondin type 1 motif 20
RGD ID: 1317084
HGNC Page HGNC:17178
Description: Predicted to enable metalloendopeptidase activity. Predicted to be involved in extracellular matrix organization. Predicted to act upstream of or within several processes, including negative regulation of apoptotic process; positive regulation of melanocyte differentiation; and proteolysis. Predicted to be located in collagen-containing extracellular matrix. Predicted to be active in extracellular matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A disintegrin and metalloproteinase with thrombospondin motifs 20; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20; a disintegrin-like and metalloprotease with thrombospondin type 1 motifs 20; ADAM metallopeptidase with thrombospondin type 1 motif, 20; ADAM-TS 20; ADAM-TS20; ADAMTS-20; GON-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381243,352,763 - 43,552,203 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1243,353,866 - 43,552,203 (-)EnsemblGRCh38hg38GRCh38
GRCh371243,747,669 - 43,946,006 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361242,034,279 - 42,231,991 (-)NCBINCBI36Build 36hg18NCBI36
Celera1242,551,068 - 42,749,852 (-)NCBICelera
Cytogenetic Map12q12NCBI
HuRef1240,776,217 - 40,975,455 (-)NCBIHuRef
CHM1_11243,714,666 - 43,912,422 (-)NCBICHM1_1
T2T-CHM13v2.01243,312,136 - 43,512,777 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
cleft lip  (ISO)
genetic disease  (IAGP)
melanoma  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12514189   PMID:12562771   PMID:14702039   PMID:15146197   PMID:20221248   PMID:21873635   PMID:22261194   PMID:22379998   PMID:23251661   PMID:24162737   PMID:25798074   PMID:25798845  
PMID:30814516   PMID:32393512   PMID:37169079  


Genomics

Comparative Map Data
ADAMTS20
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381243,352,763 - 43,552,203 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1243,353,866 - 43,552,203 (-)EnsemblGRCh38hg38GRCh38
GRCh371243,747,669 - 43,946,006 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361242,034,279 - 42,231,991 (-)NCBINCBI36Build 36hg18NCBI36
Celera1242,551,068 - 42,749,852 (-)NCBICelera
Cytogenetic Map12q12NCBI
HuRef1240,776,217 - 40,975,455 (-)NCBIHuRef
CHM1_11243,714,666 - 43,912,422 (-)NCBICHM1_1
T2T-CHM13v2.01243,312,136 - 43,512,777 (-)NCBIT2T-CHM13v2.0
Adamts20
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391594,166,177 - 94,329,966 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1594,168,044 - 94,363,299 (-)EnsemblGRCm39 Ensembl
GRCm381594,268,314 - 94,432,074 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1594,270,163 - 94,465,418 (-)EnsemblGRCm38mm10GRCm38
MGSCv371594,100,594 - 94,234,781 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361594,098,343 - 94,232,438 (-)NCBIMGSCv36mm8
Celera1596,420,964 - 96,548,136 (-)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1548.2NCBI
Adamts20
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87127,275,538 - 127,407,325 (-)NCBIGRCr8
mRatBN7.27125,396,227 - 125,528,020 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7125,397,734 - 125,527,777 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.07135,465,021 - 135,630,941 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7135,466,884 - 135,630,654 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07135,125,657 - 135,291,788 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47132,756,489 - 132,897,826 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17132,832,925 - 133,023,253 (-)NCBI
Celera7121,792,655 - 121,918,377 (-)NCBICelera
Cytogenetic Map7q35NCBI
Adamts20
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555002,689,717 - 2,850,667 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555002,688,281 - 2,850,667 (-)NCBIChiLan1.0ChiLan1.0
ADAMTS20
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21050,620,095 - 50,811,819 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11250,616,903 - 50,808,577 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01245,178,058 - 45,369,042 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11246,046,276 - 46,236,813 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1246,046,555 - 46,236,676 (+)Ensemblpanpan1.1panPan2
ADAMTS20
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12710,492,587 - 10,655,681 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2710,492,301 - 10,675,655 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2735,646,585 - 35,809,609 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02710,688,121 - 10,851,084 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2710,687,801 - 10,851,188 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12710,499,490 - 10,662,542 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02710,532,860 - 10,695,806 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02735,895,239 - 36,058,185 (-)NCBIUU_Cfam_GSD_1.0
Adamts20
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494571,076,363 - 71,222,102 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365121,943,196 - 2,088,122 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365121,942,902 - 2,088,122 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADAMTS20
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl574,503,116 - 74,672,733 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1574,502,098 - 74,672,703 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2577,323,956 - 77,484,936 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ADAMTS20
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11139,571,228 - 39,768,386 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1139,572,013 - 39,767,590 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037206,752,812 - 206,959,980 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adamts20
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248169,004,905 - 9,208,545 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248169,004,691 - 9,208,434 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADAMTS20
94 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q12-13.11(chr12:38590101-46551898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|See cases [RCV000052809] Chr12:38590101..46551898 [GRCh38]
Chr12:38983903..46945681 [GRCh37]
Chr12:37270170..45231948 [NCBI36]
Chr12:12q12-13.11		 pathogenic
NM_025003.3(ADAMTS20):c.4866G>A (p.Lys1622=) single nucleotide variant Malignant melanoma [RCV000069985] Chr12:43377494 [GRCh38]
Chr12:43771297 [GRCh37]
Chr12:42057564 [NCBI36]
Chr12:12q12		 not provided
NM_025003.3(ADAMTS20):c.4284+1604G>A single nucleotide variant Malignant melanoma [RCV000069986] Chr12:43423910 [GRCh38]
Chr12:43817713 [GRCh37]
Chr12:42103980 [NCBI36]
Chr12:12q12		 not provided
NM_025003.3(ADAMTS20):c.3688C>T (p.Arg1230Ter) single nucleotide variant Malignant melanoma [RCV000069987] Chr12:43428498 [GRCh38]
Chr12:43822301 [GRCh37]
Chr12:42108568 [NCBI36]
Chr12:12q12		 not provided
NM_025003.3(ADAMTS20):c.3259C>T (p.Pro1087Ser) single nucleotide variant Malignant melanoma [RCV000069988] Chr12:43431334 [GRCh38]
Chr12:43825137 [GRCh37]
Chr12:42111404 [NCBI36]
Chr12:12q12		 not provided
NM_025003.3(ADAMTS20):c.1957C>T (p.Arg653Cys) single nucleotide variant Malignant melanoma [RCV000069989] Chr12:43452396 [GRCh38]
Chr12:43846199 [GRCh37]
Chr12:42132466 [NCBI36]
Chr12:12q12		 not provided
NM_025003.3(ADAMTS20):c.924delA (p.Lys309Asnfs) deletion Malignant melanoma [RCV000069990] Chr12:43493197 [GRCh38]
Chr12:43887000 [GRCh37]
Chr12:42173267 [NCBI36]
Chr12:12q12		 not provided
NM_025003.3(ADAMTS20):c.684G>A (p.Met228Ile) single nucleotide variant Malignant melanoma [RCV000069991] Chr12:43502335 [GRCh38]
Chr12:43896138 [GRCh37]
Chr12:42182405 [NCBI36]
Chr12:12q12		 not provided
NM_025003.3(ADAMTS20):c.453+4722G>A single nucleotide variant Lung cancer [RCV000111064] Chr12:43546187 [GRCh38]
Chr12:43939990 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh38/hg38 12q12(chr12:43514638-44793576)x3 copy number gain See cases [RCV000135651] Chr12:43514638..44793576 [GRCh38]
Chr12:43908441..45187359 [GRCh37]
Chr12:42194708..43473626 [NCBI36]
Chr12:12q12		 uncertain significance
GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1 copy number loss See cases [RCV000138626] Chr12:40713887..46551900 [GRCh38]
Chr12:41107689..46945683 [GRCh37]
Chr12:39393956..45231950 [NCBI36]
Chr12:12q12-13.11		 pathogenic
GRCh38/hg38 12q12(chr12:43534791-43622385)x1 copy number loss See cases [RCV000139857] Chr12:43534791..43622385 [GRCh38]
Chr12:43928594..44016188 [GRCh37]
Chr12:42214861..42302455 [NCBI36]
Chr12:12q12		 uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q12(chr12:43477600-44820113)x4 copy number gain See cases [RCV000143737] Chr12:43477600..44820113 [GRCh38]
Chr12:43871403..45213896 [GRCh37]
Chr12:42157670..43500163 [NCBI36]
Chr12:12q12		 likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12		 pathogenic
GRCh37/hg19 12q12(chr12:43926131-44016480)x1 copy number loss See cases [RCV000447448] Chr12:43926131..44016480 [GRCh37]
Chr12:12q12		 likely benign
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 copy number gain See cases [RCV000448835] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_025003.5(ADAMTS20):c.2242G>A (p.Asp748Asn) single nucleotide variant Inborn genetic diseases [RCV003290516] Chr12:43443839 [GRCh38]
Chr12:43837642 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.3940G>A (p.Gly1314Arg) single nucleotide variant Inborn genetic diseases [RCV003285428] Chr12:43428246 [GRCh38]
Chr12:43822049 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1831C>T (p.Pro611Ser) single nucleotide variant Inborn genetic diseases [RCV003257242] Chr12:43452625 [GRCh38]
Chr12:43846428 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.2248C>T (p.Arg750Cys) single nucleotide variant Inborn genetic diseases [RCV003245922] Chr12:43443833 [GRCh38]
Chr12:43837636 [GRCh37]
Chr12:12q12		 uncertain significance
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_025003.5(ADAMTS20):c.2745A>T (p.Glu915Asp) single nucleotide variant not provided [RCV000972499] Chr12:43432787 [GRCh38]
Chr12:43826590 [GRCh37]
Chr12:12q12		 benign
NM_025003.5(ADAMTS20):c.2955G>A (p.Gly985=) single nucleotide variant not provided [RCV000892706] Chr12:43432445 [GRCh38]
Chr12:43826248 [GRCh37]
Chr12:12q12		 benign
NM_025003.5(ADAMTS20):c.86G>A (p.Arg29Lys) single nucleotide variant Inborn genetic diseases [RCV003239561] Chr12:43551836 [GRCh38]
Chr12:43945639 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.2586G>A (p.Met862Ile) single nucleotide variant Inborn genetic diseases [RCV003241211] Chr12:43439629 [GRCh38]
Chr12:43833432 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.276C>G (p.Asn92Lys) single nucleotide variant Inborn genetic diseases [RCV003272222] Chr12:43551086 [GRCh38]
Chr12:43944889 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:40678619-43945453)x4 copy number gain not provided [RCV001259137] Chr12:40678619..43945453 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 copy number gain See cases [RCV001353185] Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12		 likely pathogenic
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) copy number gain not specified [RCV002052988] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
NM_025003.5(ADAMTS20):c.4360G>T (p.Asp1454Tyr) single nucleotide variant not provided [RCV002224864] Chr12:43399158 [GRCh38]
Chr12:43792961 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.2822C>A (p.Thr941Asn) single nucleotide variant Inborn genetic diseases [RCV002682446] Chr12:43432710 [GRCh38]
Chr12:43826513 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.455C>T (p.Thr152Met) single nucleotide variant Inborn genetic diseases [RCV002687640] Chr12:43532194 [GRCh38]
Chr12:43925997 [GRCh37]
Chr12:12q12		 likely benign
NM_025003.5(ADAMTS20):c.4837A>G (p.Thr1613Ala) single nucleotide variant Inborn genetic diseases [RCV002729450] Chr12:43377523 [GRCh38]
Chr12:43771326 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.2665C>A (p.His889Asn) single nucleotide variant Inborn genetic diseases [RCV002970114] Chr12:43434300 [GRCh38]
Chr12:43828103 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.3523C>T (p.Arg1175Cys) single nucleotide variant Inborn genetic diseases [RCV002688869] Chr12:43428766 [GRCh38]
Chr12:43822569 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.2500C>A (p.His834Asn) single nucleotide variant Inborn genetic diseases [RCV002733822] Chr12:43439715 [GRCh38]
Chr12:43833518 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.3710A>G (p.Tyr1237Cys) single nucleotide variant Inborn genetic diseases [RCV002990682] Chr12:43428476 [GRCh38]
Chr12:43822279 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.5015T>C (p.Ile1672Thr) single nucleotide variant Inborn genetic diseases [RCV002991012] Chr12:43376634 [GRCh38]
Chr12:43770437 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1703G>A (p.Cys568Tyr) single nucleotide variant Inborn genetic diseases [RCV002907108] Chr12:43453964 [GRCh38]
Chr12:43847767 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.5443A>G (p.Lys1815Glu) single nucleotide variant Inborn genetic diseases [RCV002753877] Chr12:43375382 [GRCh38]
Chr12:43769185 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.4070G>A (p.Gly1357Glu) single nucleotide variant Inborn genetic diseases [RCV002973058] Chr12:43427345 [GRCh38]
Chr12:43821148 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.757C>T (p.Arg253Cys) single nucleotide variant Inborn genetic diseases [RCV003012958] Chr12:43502262 [GRCh38]
Chr12:43896065 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1522C>T (p.His508Tyr) single nucleotide variant Inborn genetic diseases [RCV002779232] Chr12:43462987 [GRCh38]
Chr12:43856790 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.910C>A (p.His304Asn) single nucleotide variant Inborn genetic diseases [RCV002798291] Chr12:43493211 [GRCh38]
Chr12:43887014 [GRCh37]
Chr12:12q12		 likely benign
NM_025003.5(ADAMTS20):c.1291G>A (p.Ala431Thr) single nucleotide variant Inborn genetic diseases [RCV002950613] Chr12:43466728 [GRCh38]
Chr12:43860531 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1849T>C (p.Phe617Leu) single nucleotide variant Inborn genetic diseases [RCV002758608] Chr12:43452607 [GRCh38]
Chr12:43846410 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.2954G>A (p.Gly985Glu) single nucleotide variant Inborn genetic diseases [RCV002869409] Chr12:43432446 [GRCh38]
Chr12:43826249 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.4765A>C (p.Asn1589His) single nucleotide variant Inborn genetic diseases [RCV002736946] Chr12:43383590 [GRCh38]
Chr12:43777393 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.394C>G (p.Arg132Gly) single nucleotide variant Inborn genetic diseases [RCV002706829] Chr12:43550968 [GRCh38]
Chr12:43944771 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.4219G>A (p.Val1407Ile) single nucleotide variant Inborn genetic diseases [RCV002744273] Chr12:43425579 [GRCh38]
Chr12:43819382 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.587A>C (p.Gln196Pro) single nucleotide variant Inborn genetic diseases [RCV002986593] Chr12:43532062 [GRCh38]
Chr12:43925865 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.2491C>G (p.Pro831Ala) single nucleotide variant Inborn genetic diseases [RCV002854288] Chr12:43439724 [GRCh38]
Chr12:43833527 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.332C>A (p.Thr111Asn) single nucleotide variant Inborn genetic diseases [RCV002767758] Chr12:43551030 [GRCh38]
Chr12:43944833 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1690C>G (p.Pro564Ala) single nucleotide variant Inborn genetic diseases [RCV002665941] Chr12:43453977 [GRCh38]
Chr12:43847780 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.5251C>G (p.Pro1751Ala) single nucleotide variant Inborn genetic diseases [RCV002744116] Chr12:43376118 [GRCh38]
Chr12:43769921 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.598T>C (p.Tyr200His) single nucleotide variant Inborn genetic diseases [RCV002986278] Chr12:43532051 [GRCh38]
Chr12:43925854 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.548A>T (p.His183Leu) single nucleotide variant Inborn genetic diseases [RCV002804075] Chr12:43532101 [GRCh38]
Chr12:43925904 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.304G>A (p.Ala102Thr) single nucleotide variant Inborn genetic diseases [RCV002827783] Chr12:43551058 [GRCh38]
Chr12:43944861 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.230G>T (p.Arg77Leu) single nucleotide variant Inborn genetic diseases [RCV002763398] Chr12:43551132 [GRCh38]
Chr12:43944935 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.5098G>T (p.Ala1700Ser) single nucleotide variant Inborn genetic diseases [RCV002699525] Chr12:43376551 [GRCh38]
Chr12:43770354 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.4213C>T (p.Pro1405Ser) single nucleotide variant Inborn genetic diseases [RCV002954761] Chr12:43425585 [GRCh38]
Chr12:43819388 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.2141G>C (p.Gly714Ala) single nucleotide variant Inborn genetic diseases [RCV002804240] Chr12:43446651 [GRCh38]
Chr12:43840454 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.776G>T (p.Arg259Ile) single nucleotide variant Inborn genetic diseases [RCV002641225] Chr12:43502243 [GRCh38]
Chr12:43896046 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.4471T>C (p.Ser1491Pro) single nucleotide variant Inborn genetic diseases [RCV002853517] Chr12:43383959 [GRCh38]
Chr12:43777762 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.3937T>C (p.Trp1313Arg) single nucleotide variant Inborn genetic diseases [RCV002853558] Chr12:43428249 [GRCh38]
Chr12:43822052 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.4591G>A (p.Val1531Met) single nucleotide variant Inborn genetic diseases [RCV002986145] Chr12:43383839 [GRCh38]
Chr12:43777642 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1508T>G (p.Ile503Arg) single nucleotide variant Inborn genetic diseases [RCV002675209] Chr12:43464592 [GRCh38]
Chr12:43858395 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.220A>T (p.Met74Leu) single nucleotide variant Inborn genetic diseases [RCV002963983] Chr12:43551142 [GRCh38]
Chr12:43944945 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1439G>C (p.Gly480Ala) single nucleotide variant Inborn genetic diseases [RCV002718313] Chr12:43464661 [GRCh38]
Chr12:43858464 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1040A>G (p.His347Arg) single nucleotide variant Inborn genetic diseases [RCV002674411] Chr12:43492541 [GRCh38]
Chr12:43886344 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.5377G>C (p.Gly1793Arg) single nucleotide variant Inborn genetic diseases [RCV002648964] Chr12:43375448 [GRCh38]
Chr12:43769251 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.3131G>A (p.Arg1044Gln) single nucleotide variant Inborn genetic diseases [RCV002898009] Chr12:43431462 [GRCh38]
Chr12:43825265 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1399C>A (p.Pro467Thr) single nucleotide variant Inborn genetic diseases [RCV002896429] Chr12:43464701 [GRCh38]
Chr12:43858504 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.5030G>C (p.Arg1677Thr) single nucleotide variant Inborn genetic diseases [RCV002673601] Chr12:43376619 [GRCh38]
Chr12:43770422 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.860T>C (p.Met287Thr) single nucleotide variant Inborn genetic diseases [RCV002668592] Chr12:43502159 [GRCh38]
Chr12:43895962 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.632C>T (p.Thr211Ile) single nucleotide variant Inborn genetic diseases [RCV002855177] Chr12:43502387 [GRCh38]
Chr12:43896190 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1667A>G (p.Asn556Ser) single nucleotide variant Inborn genetic diseases [RCV002934604] Chr12:43454000 [GRCh38]
Chr12:43847803 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.3607G>T (p.Asp1203Tyr) single nucleotide variant Inborn genetic diseases [RCV002680334] Chr12:43428682 [GRCh38]
Chr12:43822485 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.5484T>G (p.Asn1828Lys) single nucleotide variant Inborn genetic diseases [RCV002814181] Chr12:43369344 [GRCh38]
Chr12:43763147 [GRCh37]
Chr12:12q12		 likely benign
NM_025003.5(ADAMTS20):c.3485C>T (p.Thr1162Ile) single nucleotide variant Inborn genetic diseases [RCV003257412] Chr12:43429621 [GRCh38]
Chr12:43823424 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1916T>A (p.Val639Glu) single nucleotide variant Inborn genetic diseases [RCV003205014] Chr12:43452540 [GRCh38]
Chr12:43846343 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.4732C>G (p.Leu1578Val) single nucleotide variant Inborn genetic diseases [RCV003177853] Chr12:43383623 [GRCh38]
Chr12:43777426 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1996T>A (p.Phe666Ile) single nucleotide variant Inborn genetic diseases [RCV003189045] Chr12:43452357 [GRCh38]
Chr12:43846160 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.3725A>T (p.Asp1242Val) single nucleotide variant Inborn genetic diseases [RCV003263616] Chr12:43428461 [GRCh38]
Chr12:43822264 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.3726T>G (p.Asp1242Glu) single nucleotide variant Inborn genetic diseases [RCV003263617] Chr12:43428460 [GRCh38]
Chr12:43822263 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.3149T>C (p.Leu1050Pro) single nucleotide variant Inborn genetic diseases [RCV003199182] Chr12:43431444 [GRCh38]
Chr12:43825247 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.500T>A (p.Ile167Lys) single nucleotide variant Inborn genetic diseases [RCV003199790] Chr12:43532149 [GRCh38]
Chr12:43925952 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1313T>C (p.Met438Thr) single nucleotide variant Inborn genetic diseases [RCV003207758] Chr12:43466706 [GRCh38]
Chr12:43860509 [GRCh37]
Chr12:12q12		 likely benign
NM_025003.5(ADAMTS20):c.4120T>C (p.Cys1374Arg) single nucleotide variant Inborn genetic diseases [RCV003300469] Chr12:43425678 [GRCh38]
Chr12:43819481 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.4056G>T (p.Gln1352His) single nucleotide variant Inborn genetic diseases [RCV003198284] Chr12:43427359 [GRCh38]
Chr12:43821162 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1714T>G (p.Cys572Gly) single nucleotide variant Inborn genetic diseases [RCV003309826] Chr12:43453953 [GRCh38]
Chr12:43847756 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1880G>A (p.Gly627Asp) single nucleotide variant Inborn genetic diseases [RCV003357371] Chr12:43452576 [GRCh38]
Chr12:43846379 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.4553G>A (p.Arg1518Gln) single nucleotide variant Inborn genetic diseases [RCV003344638] Chr12:43383877 [GRCh38]
Chr12:43777680 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.4772T>C (p.Ile1591Thr) single nucleotide variant Inborn genetic diseases [RCV003359289] Chr12:43383583 [GRCh38]
Chr12:43777386 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.2690C>T (p.Thr897Ile) single nucleotide variant Inborn genetic diseases [RCV003379880] Chr12:43434275 [GRCh38]
Chr12:43828078 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.3427G>A (p.Ala1143Thr) single nucleotide variant Inborn genetic diseases [RCV003347799] Chr12:43429679 [GRCh38]
Chr12:43823482 [GRCh37]
Chr12:12q12		 likely benign
NM_025003.5(ADAMTS20):c.4222A>G (p.Ile1408Val) single nucleotide variant Inborn genetic diseases [RCV003347433] Chr12:43425576 [GRCh38]
Chr12:43819379 [GRCh37]
Chr12:12q12		 likely benign
NM_025003.5(ADAMTS20):c.3073T>G (p.Trp1025Gly) single nucleotide variant Inborn genetic diseases [RCV003374528] Chr12:43432327 [GRCh38]
Chr12:43826130 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.868G>C (p.Val290Leu) single nucleotide variant Inborn genetic diseases [RCV003366213] Chr12:43493253 [GRCh38]
Chr12:43887056 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.1460A>G (p.Lys487Arg) single nucleotide variant Inborn genetic diseases [RCV003354920] Chr12:43464640 [GRCh38]
Chr12:43858443 [GRCh37]
Chr12:12q12		 uncertain significance
NM_025003.5(ADAMTS20):c.354G>A (p.Glu118=) single nucleotide variant not provided [RCV003391753] Chr12:43551008 [GRCh38]
Chr12:43944811 [GRCh37]
Chr12:12q12		 likely benign
NM_025003.5(ADAMTS20):c.3093C>T (p.Ser1031=) single nucleotide variant not provided [RCV003391751] Chr12:43432307 [GRCh38]
Chr12:43826110 [GRCh37]
Chr12:12q12		 likely benign
NM_025003.5(ADAMTS20):c.1300T>C (p.Leu434=) single nucleotide variant not provided [RCV003391752] Chr12:43466719 [GRCh38]
Chr12:43860522 [GRCh37]
Chr12:12q12		 likely benign
NM_025003.5(ADAMTS20):c.4848C>T (p.Thr1616=) single nucleotide variant not provided [RCV003391750] Chr12:43377512 [GRCh38]
Chr12:43771315 [GRCh37]
Chr12:12q12		 likely benign
GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3 copy number gain not specified [RCV003987001] Chr12:38258635..48235837 [GRCh37]
Chr12:12q12-13.11		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:810
Count of miRNA genes:378
Interacting mature miRNAs:402
Transcripts:ENST00000389420, ENST00000395541, ENST00000549670, ENST00000553158
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
SHGC-79122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371243,757,517 - 43,757,855UniSTSGRCh37
Build 361242,043,784 - 42,044,122RGDNCBI36
Celera1242,560,573 - 42,560,911RGD
Cytogenetic Map12q12UniSTS
HuRef1240,785,722 - 40,786,060UniSTS
TNG Radiation Hybrid Map1217615.0UniSTS
ADAMTS20__4252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371243,817,204 - 43,817,727UniSTSGRCh37
Build 361242,103,471 - 42,103,994RGDNCBI36
Celera1242,620,250 - 42,620,773RGD
HuRef1240,845,831 - 40,846,354UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1 1 8 1 1 7 2 4
Low 22 7 16 13 41 14 204 14 50 35 95 100 3 1 2 6
Below cutoff 448 384 499 106 233 44 803 465 2091 54 632 598 66 1 343 597

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC090525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC120104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF488804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ515153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ515154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN292892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF547959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000389420   ⟹   ENSP00000374071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1243,353,866 - 43,552,203 (-)Ensembl
RefSeq Acc Id: ENST00000395541   ⟹   ENSP00000378911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1243,423,576 - 43,551,921 (-)Ensembl
RefSeq Acc Id: ENST00000549670   ⟹   ENSP00000447427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1243,422,819 - 43,439,712 (-)Ensembl
RefSeq Acc Id: ENST00000553158   ⟹   ENSP00000448341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1243,423,576 - 43,551,921 (-)Ensembl
RefSeq Acc Id: NM_025003   ⟹   NP_079279
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381243,353,866 - 43,552,203 (-)NCBI
GRCh371243,748,012 - 43,945,724 (-)RGD
Build 361242,034,279 - 42,231,991 (-)NCBI Archive
Celera1242,551,068 - 42,749,852 (-)RGD
HuRef1240,776,217 - 40,975,455 (-)RGD
CHM1_11243,714,666 - 43,912,422 (-)NCBI
T2T-CHM13v2.01243,313,237 - 43,512,718 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011538754   ⟹   XP_011537056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381243,352,763 - 43,552,203 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019979   ⟹   XP_016875468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381243,352,763 - 43,471,464 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054373256   ⟹   XP_054229231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01243,312,136 - 43,512,777 (-)NCBI
RefSeq Acc Id: XM_054373257   ⟹   XP_054229232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01243,312,137 - 43,430,865 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_079279   ⟸   NM_025003
- Peptide Label: preproprotein
- UniProtKB: J3QT00 (UniProtKB/Swiss-Prot),   A6NNC9 (UniProtKB/Swiss-Prot),   P59510 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011537056   ⟸   XM_011538754
- Peptide Label: isoform X1
- UniProtKB: P59510 (UniProtKB/Swiss-Prot),   J3QT00 (UniProtKB/Swiss-Prot),   A6NNC9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016875468   ⟸   XM_017019979
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000374071   ⟸   ENST00000389420
RefSeq Acc Id: ENSP00000447427   ⟸   ENST00000549670
RefSeq Acc Id: ENSP00000378911   ⟸   ENST00000395541
RefSeq Acc Id: ENSP00000448341   ⟸   ENST00000553158
RefSeq Acc Id: XP_054229231   ⟸   XM_054373256
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229232   ⟸   XM_054373257
- Peptide Label: isoform X2
Protein Domains
Disintegrin   GON   Peptidase M12B   TSP type-1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P59510-F1-model_v2 AlphaFold P59510 1-1910 view protein structure

Promoters
RGD ID:7223657
Promoter ID:EPDNEW_H17575
Type:initiation region
Name:ADAMTS20_1
Description:ADAM metallopeptidase with thrombospondin type 1 motif 20
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381243,552,203 - 43,552,263EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17178 AgrOrtholog
COSMIC ADAMTS20 COSMIC
Ensembl Genes ENSG00000173157 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000389420 ENTREZGENE
  ENST00000389420.8 UniProtKB/Swiss-Prot
  ENST00000549670.5 UniProtKB/TrEMBL
  ENST00000553158.5 UniProtKB/TrEMBL
Gene3D-CATH 2.20.100.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.830 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.1620.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000173157 GTEx
HGNC ID HGNC:17178 ENTREZGENE
Human Proteome Map ADAMTS20 Human Proteome Map
InterPro ADAM_CR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADAM_spacer1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADAMTS/ADAMTS-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADAMTS_CR_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M12B_GON-ADAMTSs UniProtKB/Swiss-Prot
  Peptidase_M12B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M12B_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80070 UniProtKB/Swiss-Prot
NCBI Gene 80070 ENTREZGENE
OMIM 611681 OMIM
PANTHER A DISINTEGRIN AND METALLOPROTEINASE WITH THROMBOSPONDIN MOTIFS 20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADAMTS A DISINTEGRIN AND METALLOPROTEASE WITH THROMBOSPONDIN MOTIFS PROTEASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ADAM_CR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADAM_CR_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADAM_spacer1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GON UniProtKB/Swiss-Prot
  Pep_M12B_propep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Reprolysin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_ADAMTS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134901626 PharmGKB
PRINTS ADAMTSFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ADAM_MEPRO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GON UniProtKB/Swiss-Prot
  TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_PROTEASE UniProtKB/Swiss-Prot
SMART TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF82895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NNC9 ENTREZGENE
  ATS20_HUMAN UniProtKB/Swiss-Prot
  G3V1X8_HUMAN UniProtKB/TrEMBL
  H0YHN3_HUMAN UniProtKB/TrEMBL
  J3QT00 ENTREZGENE
  L0R6C0_HUMAN UniProtKB/TrEMBL
  P59510 ENTREZGENE
UniProt Secondary A6NNC9 UniProtKB/Swiss-Prot
  J3QT00 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ADAMTS20  ADAM metallopeptidase with thrombospondin type 1 motif 20    ADAM metallopeptidase with thrombospondin type 1 motif, 20  Symbol and/or name change 5135510 APPROVED