ASTL (astacin like metalloendopeptidase) - 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: ASTL (astacin like metalloendopeptidase) Homo sapiens
Analyze
Symbol: ASTL
Name: astacin like metalloendopeptidase
RGD ID: 1349169
HGNC Page HGNC:31704
Description: Predicted to enable aspartic-type peptidase activity; glutamic-type peptidase activity; and metalloendopeptidase activity. Predicted to be involved in several processes, including negative regulation of binding activity of sperm to zona pellucida; positive regulation of protein processing; and prevention of polyspermy. Predicted to be located in cortical granule and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: astacin-like metallo-endopeptidase (M12 family); astacin-like metalloendopeptidase; astacin-like metalloendopeptidase (M12 family); MGC129843; oocyte astacin; OOMD11; ovastacin; OZEMA11; SAS1B; sperm acrosomal SLLP1 binding; ZP2-proteinase
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
GRCh38296,122,818 - 96,138,564 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl296,122,818 - 96,138,502 (-)EnsemblGRCh38hg38GRCh38
GRCh37296,788,557 - 96,804,241 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36296,153,316 - 96,167,902 (-)NCBINCBI36Build 36hg18NCBI36
Build 34296,211,462 - 96,226,049NCBI
Celera291,230,396 - 91,244,982 (-)NCBICelera
Cytogenetic Map2q11.2NCBI
HuRef290,750,866 - 90,765,452 (-)NCBIHuRef
CHM1_1296,793,916 - 96,808,503 (-)NCBICHM1_1
T2T-CHM13v2.0296,629,422 - 96,645,168 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cortical granule  (IEA,ISS)
cytoplasm  (IEA,ISS)
cytoplasmic vesicle  (IEA)
membrane  (IEA)
plasma membrane  (IEA,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:19913121   PMID:20628086   PMID:21873635   PMID:22206759   PMID:22472438   PMID:24038607   PMID:26186194   PMID:26327203   PMID:28514442   PMID:30862715   PMID:32296183  
PMID:33629311   PMID:33961781   PMID:34704130  


Genomics

Comparative Map Data
ASTL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38296,122,818 - 96,138,564 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl296,122,818 - 96,138,502 (-)EnsemblGRCh38hg38GRCh38
GRCh37296,788,557 - 96,804,241 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36296,153,316 - 96,167,902 (-)NCBINCBI36Build 36hg18NCBI36
Build 34296,211,462 - 96,226,049NCBI
Celera291,230,396 - 91,244,982 (-)NCBICelera
Cytogenetic Map2q11.2NCBI
HuRef290,750,866 - 90,765,452 (-)NCBIHuRef
CHM1_1296,793,916 - 96,808,503 (-)NCBICHM1_1
T2T-CHM13v2.0296,629,422 - 96,645,168 (-)NCBIT2T-CHM13v2.0
Astl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392127,180,559 - 127,199,575 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2127,180,559 - 127,199,571 (+)EnsemblGRCm39 Ensembl
GRCm382127,338,639 - 127,357,655 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2127,338,639 - 127,357,651 (+)EnsemblGRCm38mm10GRCm38
MGSCv372127,164,375 - 127,183,387 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362127,030,080 - 127,049,092 (+)NCBIMGSCv36mm8
Celera2128,584,628 - 128,599,928 (+)NCBICelera
Cytogenetic Map2F1NCBI
cM Map261.93NCBI
Astl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83135,016,444 - 135,032,177 (+)NCBIGRCr8
mRatBN7.23114,563,135 - 114,580,295 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3114,563,135 - 114,578,868 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3118,452,397 - 118,468,141 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03127,047,958 - 127,063,702 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03124,708,329 - 124,724,073 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03119,783,717 - 119,799,450 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3119,783,717 - 119,799,450 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03126,310,094 - 126,325,827 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43114,845,320 - 114,861,053 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera3113,402,096 - 113,417,834 (+)NCBICelera
Cytogenetic Map3q36NCBI
Astl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554703,719,254 - 3,732,607 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554703,719,254 - 3,732,598 (-)NCBIChiLan1.0ChiLan1.0
ASTL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21232,169,814 - 32,185,721 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A32,172,596 - 32,188,480 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A103,176,662 - 103,192,542 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A97,048,871 - 97,063,747 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A97,049,184 - 97,063,747 (-)Ensemblpanpan1.1panPan2
ASTL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11734,594,701 - 34,608,708 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1734,594,026 - 34,607,961 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1734,363,562 - 34,378,272 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01735,365,149 - 35,379,752 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1735,365,007 - 35,379,047 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11734,494,438 - 34,509,160 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01734,562,766 - 34,577,482 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01734,769,924 - 34,784,663 (+)NCBIUU_Cfam_GSD_1.0
Astl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629283,005,750 - 83,015,976 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936744259,188 - 268,928 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936744259,188 - 268,919 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASTL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl347,059,040 - 47,070,664 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1347,058,104 - 47,071,681 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2349,198,467 - 49,211,812 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ASTL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.114568,071 - 577,182 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041167,978,725 - 167,994,724 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Astl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247492,241,511 - 2,254,640 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASTL
48 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3 copy number gain Global developmental delay [RCV000050366]|See cases [RCV000050366] Chr2:95879602..97029672 [GRCh38]
Chr2:96545350..97695409 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1 copy number loss See cases [RCV000051260] Chr2:95879602..97285797 [GRCh38]
Chr2:96545350..98013866 [GRCh37]
Chr2:95909077..97380005 [NCBI36]
Chr2:2q11.1-11.2		 pathogenic
GRCh38/hg38 2q11.2(chr2:96100812-97285797)x1 copy number loss See cases [RCV000051137] Chr2:96100812..97285797 [GRCh38]
Chr2:96766560..98013866 [GRCh37]
Chr2:96130287..97380005 [NCBI36]
Chr2:2q11.2		 pathogenic
GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3 copy number gain See cases [RCV000053136] Chr2:95806265..97285797 [GRCh38]
Chr2:96472013..98013866 [GRCh37]
Chr2:95835740..97380005 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.2(chr2:96100612-97285797)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053140]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053140]|See cases [RCV000053140] Chr2:96100612..97285797 [GRCh38]
Chr2:96766360..98014007 [GRCh37]
Chr2:96130087..97380146 [NCBI36]
Chr2:2q11.2		 uncertain significance
GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3 copy number gain See cases [RCV000052946] Chr2:94817406..103252396 [GRCh38]
Chr2:95618109..103868854 [GRCh37]
Chr2:94846878..103235286 [NCBI36]
Chr2:2q11.1-12.1		 pathogenic
GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3 copy number gain See cases [RCV000052945] Chr2:91443218..102334856 [GRCh38]
Chr2:91617683..102951316 [GRCh37]
Chr2:90981410..102317748 [NCBI36]
Chr2:2p11.2-q11.2		 pathogenic
Single allele deletion Intellectual disability [RCV001293378] Chr2:96737083..98193473 [GRCh37]
Chr2:2q11.1-11.2		 pathogenic
GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3 copy number gain See cases [RCV000053137] Chr2:95810453..97024341 [GRCh38]
Chr2:96476201..97690078 [GRCh37]
Chr2:95839928..97053805 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3 copy number gain See cases [RCV000053138] Chr2:95880668..97131646 [GRCh38]
Chr2:96546416..97797383 [GRCh37]
Chr2:95910143..97161110 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3 copy number gain See cases [RCV000053139] Chr2:95916534..97024341 [GRCh38]
Chr2:96582282..97690078 [GRCh37]
Chr2:95946009..97053805 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.1-11.2(chr2:95493468-96977610)x3 copy number gain See cases [RCV000133839] Chr2:95493468..96977610 [GRCh38]
Chr2:96159216..97643347 [GRCh37]
Chr2:95522943..97007074 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3 copy number gain See cases [RCV000050366] Chr2:95879602..97029672 [GRCh38]
Chr2:96545350..97695409 [GRCh37]
Chr2:95909077..97059136 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x1 copy number loss See cases [RCV000134141] Chr2:95879602..97029672 [GRCh38]
Chr2:96545350..97695409 [GRCh37]
Chr2:95909077..97059136 [NCBI36]
Chr2:2q11.1-11.2		 pathogenic
GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1 copy number loss See cases [RCV000135343] Chr2:96073560..97062710 [GRCh38]
Chr2:96739308..97728447 [GRCh37]
Chr2:96103035..97092174 [NCBI36]
Chr2:2q11.2		 pathogenic
GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1 copy number loss See cases [RCV000137012] Chr2:96100812..97154835 [GRCh38]
Chr2:96766560..97820572 [GRCh37]
Chr2:96130287..97184299 [NCBI36]
Chr2:2q11.2		 uncertain significance
GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3 copy number gain See cases [RCV000137817] Chr2:95766541..97589743 [GRCh38]
Chr2:96432289..98206206 [GRCh37]
Chr2:95796016..97572638 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13		 pathogenic
GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3 copy number gain See cases [RCV000142146] Chr2:96066771..97285797 [GRCh38]
Chr2:96732519..98079569 [GRCh37]
Chr2:96096246..97432433 [NCBI36]
Chr2:2q11.2		 uncertain significance
GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3 copy number gain See cases [RCV000142814] Chr2:96100816..97285797 [GRCh38]
Chr2:96766564..98013954 [GRCh37]
Chr2:96130291..97380093 [NCBI36]
Chr2:2q11.2		 uncertain significance
GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3 copy number gain See cases [RCV000138012] Chr2:95337458..99072953 [GRCh38]
Chr2:96003206..99689416 [GRCh37]
Chr2:95366933..99055848 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1 copy number loss See cases [RCV000142800] Chr2:96073560..97513144 [GRCh38]
Chr2:96739308..98066294 [GRCh37]
Chr2:96103035..97496039 [NCBI36]
Chr2:2q11.2		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266) copy number gain See cases [RCV000449270] Chr2:95529039..108518266 [GRCh37]
Chr2:2q11.1-12.3		 pathogenic
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13		 pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:96698012-97757442)x3 copy number gain See cases [RCV000445685] Chr2:96698012..97757442 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394) copy number gain See cases [RCV000447723] Chr2:95691600..100587394 [GRCh37]
Chr2:2q11.1-11.2		 pathogenic
NC_000002.11:g.(?_96738407)_(97742073_?)del deletion Schizophrenia [RCV000416822] Chr2:96738407..97742073 [GRCh37]
Chr2:96102134..97105800 [NCBI36]
Chr2:2q11.1-11.2		 likely pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:96778661-97757978)x3 copy number gain See cases [RCV000448583] Chr2:96778661..97757978 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:96468158-97871906)x3 copy number gain See cases [RCV000511375] Chr2:96468158..97871906 [GRCh37]
Chr2:2q11.1-11.2		 likely pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:96097383-97679933)x1 copy number loss See cases [RCV000511715] Chr2:96097383..97679933 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:96732519-98225552)x3 copy number gain See cases [RCV000511635] Chr2:96732519..98225552 [GRCh37]
Chr2:2q11.1-11.2		 likely benign
GRCh37/hg19 2q11.1-11.2(chr2:96712139-98249638)x1 copy number loss See cases [RCV000511596] Chr2:96712139..98249638 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127) copy number gain See cases [RCV000511158] Chr2:95518497..107186127 [GRCh37]
Chr2:2q11.1-12.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001002036.4(ASTL):c.1274T>A (p.Phe425Tyr) single nucleotide variant not specified [RCV004313390] Chr2:96123872 [GRCh38]
Chr2:96789611 [GRCh37]
Chr2:2q11.2		 uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:96735977-98258828)x1 copy number loss not provided [RCV000682130] Chr2:96735977..98258828 [GRCh37]
Chr2:2q11.1-11.2		 likely pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:96544602-98138405)x1 copy number loss not provided [RCV000682132] Chr2:96544602..98138405 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13		 pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
NC_000002.12:g.(?_96063558)_(97079140_?)del deletion Schizophrenia [RCV000754268] Chr2:96063558..97079140 [GRCh38]
Chr2:2q11.2		 likely pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:96747466-98193473)x1 copy number loss See cases [RCV000790587] Chr2:96747466..98193473 [GRCh37]
Chr2:2q11.1-11.2		 likely pathogenic
NC_000002.11:g.(?_96780545)_(96971175_?)dup duplication not provided [RCV001031839] Chr2:96780545..96971175 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
NC_000002.11:g.(?_96780545)_(96994037_?)dup duplication not provided [RCV001031880] Chr2:96780545..96994037 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
NM_001002036.4(ASTL):c.465G>A (p.Ser155=) single nucleotide variant not provided [RCV000879722] Chr2:96132712 [GRCh38]
Chr2:96798451 [GRCh37]
Chr2:2q11.2		 benign
NM_001002036.4(ASTL):c.1282del (p.Met428fs) deletion not provided [RCV000961967] Chr2:96123864 [GRCh38]
Chr2:96789603 [GRCh37]
Chr2:2q11.2		 benign
GRCh37/hg19 2q11.1-11.2(chr2:96712139-98254657)x1 copy number loss not provided [RCV001005295] Chr2:96712139..98254657 [GRCh37]
Chr2:2q11.1-11.2		 likely pathogenic|uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:96515883-98025634)x3 copy number gain not provided [RCV000845755] Chr2:96515883..98025634 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:96552903-98118115)x1 copy number loss not provided [RCV000848564] Chr2:96552903..98118115 [GRCh37]
Chr2:2q11.1-11.2		 pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:96732519-98118115)x3 copy number gain not provided [RCV001005296] Chr2:96732519..98118115 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
NM_001002036.4(ASTL):c.872G>A (p.Arg291Lys) single nucleotide variant not provided [RCV000974919] Chr2:96129826 [GRCh38]
Chr2:96795565 [GRCh37]
Chr2:2q11.2		 benign
GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3 copy number gain not provided [RCV002473932] Chr2:95341388..100340514 [GRCh37]
Chr2:2q11.1-11.2		 likely pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:96737083-98261802)x1 copy number loss See cases [RCV001194515] Chr2:96737083..98261802 [GRCh37]
Chr2:2q11.1-11.2		 likely pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:96737083-98193473)x3 copy number gain See cases [RCV001194576] Chr2:96737083..98193473 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:96515883-98162176)x3 copy number gain not provided [RCV001259641] Chr2:96515883..98162176 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:96421161-97765561)x1 copy number loss not provided [RCV001259642] Chr2:96421161..97765561 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:96630256-96836549)x3 copy number gain not provided [RCV001259640] Chr2:96630256..96836549 [GRCh37]
Chr2:2q11.1-11.2		 likely benign
GRCh37/hg19 2q11.1-11.2(chr2:96755045-98021592) copy number loss Fetal growth restriction [RCV001352673] Chr2:96755045..98021592 [GRCh37]
Chr2:2q11.1-11.2		 pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:96544603-98025634)x3 copy number gain not provided [RCV001832989] Chr2:96544603..98025634 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
NM_001002036.4(ASTL):c.456-1G>A single nucleotide variant Oocyte maturation defect 11 [RCV001787285] Chr2:96132722 [GRCh38]
Chr2:96798461 [GRCh37]
Chr2:2q11.2		 pathogenic
NC_000002.11:g.(?_96780545)_(97475254_?)dup duplication not provided [RCV001981292] Chr2:96780545..97475254 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:96628608-96981369)x3 copy number gain not provided [RCV002472784] Chr2:96628608..96981369 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
NM_001002036.4(ASTL):c.902G>A (p.Ser301Asn) single nucleotide variant not specified [RCV004123718] Chr2:96124244 [GRCh38]
Chr2:96789983 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.151G>A (p.Gly51Arg) single nucleotide variant not specified [RCV004207628] Chr2:96137605 [GRCh38]
Chr2:96803344 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.475C>T (p.Arg159Cys) single nucleotide variant not specified [RCV004219822] Chr2:96132702 [GRCh38]
Chr2:96798441 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.628A>G (p.Ile210Val) single nucleotide variant not specified [RCV004074721] Chr2:96132549 [GRCh38]
Chr2:96798288 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.1018G>A (p.Gly340Arg) single nucleotide variant not specified [RCV004182170] Chr2:96124128 [GRCh38]
Chr2:96789867 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.925C>A (p.Leu309Met) single nucleotide variant not specified [RCV004204378] Chr2:96124221 [GRCh38]
Chr2:96789960 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.838G>A (p.Gly280Ser) single nucleotide variant not specified [RCV004192450] Chr2:96129860 [GRCh38]
Chr2:96795599 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.449T>C (p.Met150Thr) single nucleotide variant not specified [RCV004214584] Chr2:96133431 [GRCh38]
Chr2:96799170 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.625G>C (p.Glu209Gln) single nucleotide variant not specified [RCV004117454] Chr2:96132552 [GRCh38]
Chr2:96798291 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.167C>T (p.Pro56Leu) single nucleotide variant not specified [RCV004234480] Chr2:96137589 [GRCh38]
Chr2:96803328 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.953C>T (p.Ala318Val) single nucleotide variant not specified [RCV004234076] Chr2:96124193 [GRCh38]
Chr2:96789932 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.359T>C (p.Ile120Thr) single nucleotide variant not specified [RCV004159386] Chr2:96133521 [GRCh38]
Chr2:96799260 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.71C>T (p.Ala24Val) single nucleotide variant not specified [RCV004204633] Chr2:96137685 [GRCh38]
Chr2:96803424 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.950C>T (p.Ser317Leu) single nucleotide variant not specified [RCV004153174] Chr2:96124196 [GRCh38]
Chr2:96789935 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001002036.4(ASTL):c.159G>C (p.Lys53Asn) single nucleotide variant not specified [RCV004128187] Chr2:96137597 [GRCh38]
Chr2:96803336 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.821G>A (p.Arg274Gln) single nucleotide variant not specified [RCV004225850] Chr2:96129877 [GRCh38]
Chr2:96795616 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.235A>G (p.Ile79Val) single nucleotide variant not specified [RCV004279432] Chr2:96135359 [GRCh38]
Chr2:96801098 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001002036.4(ASTL):c.911C>T (p.Pro304Leu) single nucleotide variant not specified [RCV004252609] Chr2:96124235 [GRCh38]
Chr2:96789974 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001002036.4(ASTL):c.911C>A (p.Pro304Gln) single nucleotide variant not specified [RCV004280446] Chr2:96124235 [GRCh38]
Chr2:96789974 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.691G>A (p.Asp231Asn) single nucleotide variant not specified [RCV004352161] Chr2:96130092 [GRCh38]
Chr2:96795831 [GRCh37]
Chr2:2q11.2		 uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3 copy number gain not provided [RCV003484071] Chr2:96732520..99142320 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3 copy number gain not provided [RCV003484069] Chr2:95773428..102550061 [GRCh37]
Chr2:2q11.1-11.2		 likely pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:96732520-97671333)x3 copy number gain not provided [RCV003484070] Chr2:96732520..97671333 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
Single allele deletion not provided [RCV003448678] Chr2:96555654..97769352 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
NM_001002036.4(ASTL):c.912G>A (p.Pro304=) single nucleotide variant not provided [RCV003427130] Chr2:96124234 [GRCh38]
Chr2:96789973 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001002036.4(ASTL):c.610C>T (p.Arg204Cys) single nucleotide variant not provided [RCV003427131] Chr2:96132567 [GRCh38]
Chr2:96798306 [GRCh37]
Chr2:2q11.2		 likely benign
GRCh37/hg19 2q11.1-11.2(chr2:96735977-98212850)x3 copy number gain not specified [RCV003986352] Chr2:96735977..98212850 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
NM_001002036.4(ASTL):c.1003G>A (p.Val335Ile) single nucleotide variant not specified [RCV004422926] Chr2:96124143 [GRCh38]
Chr2:96789882 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.340G>A (p.Glu114Lys) single nucleotide variant not specified [RCV004422929] Chr2:96133540 [GRCh38]
Chr2:96799279 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001002036.4(ASTL):c.70G>C (p.Ala24Pro) single nucleotide variant not specified [RCV004422932] Chr2:96137686 [GRCh38]
Chr2:96803425 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.89G>A (p.Cys30Tyr) single nucleotide variant not specified [RCV004422934] Chr2:96137667 [GRCh38]
Chr2:96803406 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.1036T>C (p.Trp346Arg) single nucleotide variant not specified [RCV004422927] Chr2:96124110 [GRCh38]
Chr2:96789849 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.530G>A (p.Arg177Gln) single nucleotide variant not specified [RCV004422931] Chr2:96132647 [GRCh38]
Chr2:96798386 [GRCh37]
Chr2:2q11.2		 uncertain significance
Single allele deletion Pheochromocytoma [RCV003986083] Chr2:96693904..96930791 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1 copy number loss not provided [RCV003885488] Chr2:96780545..98098961 [GRCh37]
Chr2:2q11.1-11.2		 pathogenic
NM_001002036.4(ASTL):c.10G>A (p.Val4Ile) single nucleotide variant not specified [RCV004422928] Chr2:96138427 [GRCh38]
Chr2:96804166 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.89G>T (p.Cys30Phe) single nucleotide variant not specified [RCV004672208] Chr2:96137667 [GRCh38]
Chr2:96803406 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.1042T>C (p.Ser348Pro) single nucleotide variant not specified [RCV004672220] Chr2:96124104 [GRCh38]
Chr2:96789843 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001002036.4(ASTL):c.773G>A (p.Ser258Asn) single nucleotide variant not specified [RCV004672228] Chr2:96129925 [GRCh38]
Chr2:96795664 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.402G>T (p.Arg134Ser) single nucleotide variant not specified [RCV004676583] Chr2:96133478 [GRCh38]
Chr2:96799217 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.669C>G (p.Ser223Arg) single nucleotide variant not specified [RCV004676580] Chr2:96130114 [GRCh38]
Chr2:96795853 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.1055A>G (p.Lys352Arg) single nucleotide variant not specified [RCV004672203] Chr2:96124091 [GRCh38]
Chr2:96789830 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001002036.4(ASTL):c.149C>G (p.Ser50Cys) single nucleotide variant not specified [RCV004856046] Chr2:96137607 [GRCh38]
Chr2:96803346 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.955G>A (p.Glu319Lys) single nucleotide variant not specified [RCV004856040] Chr2:96124191 [GRCh38]
Chr2:96789930 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.91G>A (p.Ala31Thr) single nucleotide variant not specified [RCV004856039] Chr2:96137665 [GRCh38]
Chr2:96803404 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.646A>G (p.Ile216Val) single nucleotide variant not specified [RCV004856036] Chr2:96130137 [GRCh38]
Chr2:96795876 [GRCh37]
Chr2:2q11.2		 uncertain significance
GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3 copy number gain See cases [RCV000143142] Chr2:96073560..97589743 [GRCh38]
Chr2:96739308..98206206 [GRCh37]
Chr2:96103035..97572638 [NCBI36]
Chr2:2q11.2		 likely benign
GRCh37/hg19 2q11.1-11.2(chr2:96544602-98118115)x1 copy number loss See cases [RCV000446002] Chr2:96544602..98118115 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:96544602-97706860)x3 copy number gain not provided [RCV001259643] Chr2:96544602..97706860 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
NM_001002036.4(ASTL):c.49T>A (p.Leu17Met) single nucleotide variant not specified [RCV004361658] Chr2:96138388 [GRCh38]
Chr2:96804127 [GRCh37]
Chr2:2q11.2		 uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:96555654-98024790)x1 copy number loss not provided [RCV004577457] Chr2:96555654..98024790 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
NM_001002036.4(ASTL):c.1235G>A (p.Ser412Asn) single nucleotide variant not specified [RCV004676556] Chr2:96123911 [GRCh38]
Chr2:96789650 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001002036.4(ASTL):c.973C>G (p.Pro325Ala) single nucleotide variant not specified [RCV004856021] Chr2:96124173 [GRCh38]
Chr2:96789912 [GRCh37]
Chr2:2q11.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:671
Count of miRNA genes:511
Interacting mature miRNAs:557
Transcripts:ENST00000342380, ENST00000470582
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597265063GWAS1361137_Hdiastolic blood pressure QTL GWAS1361137 (human)6e-17diastolic blood pressurediastolic blood pressure (CMO:0000005)29612924396129244Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1009 1714 2026 1484 4188 1045 1689 362 1858 225 2071 5316 4966 19 2960 631 1536 1225 145

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001002036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ537600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OR019679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OR231285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000342380   ⟹   ENSP00000343674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl296,122,818 - 96,138,502 (-)Ensembl
Ensembl Acc Id: ENST00000470582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl296,133,684 - 96,137,777 (-)Ensembl
RefSeq Acc Id: NM_001002036   ⟹   NP_001002036
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38296,122,818 - 96,138,502 (-)NCBI
GRCh37296,789,589 - 96,804,175 (-)RGD
Build 36296,153,316 - 96,167,902 (-)NCBI Archive
Celera291,230,396 - 91,244,982 (-)RGD
HuRef290,750,866 - 90,765,452 (-)ENTREZGENE
CHM1_1296,793,916 - 96,808,503 (-)NCBI
T2T-CHM13v2.0296,629,422 - 96,645,106 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511205   ⟹   XP_011509507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38296,122,818 - 96,138,564 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511207   ⟹   XP_011509509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38296,122,818 - 96,138,564 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511208   ⟹   XP_011509510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38296,122,818 - 96,138,564 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054342125   ⟹   XP_054198100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0296,629,422 - 96,645,168 (-)NCBI
RefSeq Acc Id: XM_054342126   ⟹   XP_054198101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0296,629,422 - 96,645,168 (-)NCBI
RefSeq Acc Id: XM_054342127   ⟹   XP_054198102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0296,629,422 - 96,645,168 (-)NCBI
RefSeq Acc Id: NP_001002036   ⟸   NM_001002036
- Peptide Label: precursor
- UniProtKB: Q3KNT0 (UniProtKB/Swiss-Prot),   Q6HA08 (UniProtKB/Swiss-Prot),   Q3B826 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509509   ⟸   XM_011511207
- Peptide Label: isoform X2
- UniProtKB: Q3B826 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509507   ⟸   XM_011511205
- Peptide Label: isoform X1
- UniProtKB: Q3B826 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509510   ⟸   XM_011511208
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000343674   ⟸   ENST00000342380
RefSeq Acc Id: XP_054198102   ⟸   XM_054342127
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054198101   ⟸   XM_054342126
- Peptide Label: isoform X2
- UniProtKB: Q3B826 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054198100   ⟸   XM_054342125
- Peptide Label: isoform X1
- UniProtKB: Q3B826 (UniProtKB/TrEMBL)
Protein Domains
Peptidase M12A

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6HA08-F1-model_v2 AlphaFold Q6HA08 1-431 view protein structure

Promoters
RGD ID:6796821
Promoter ID:HG_KWN:33915
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000338802
Position:
Human AssemblyChrPosition (strand)Source
Build 36296,167,061 - 96,168,232 (-)MPROMDB
RGD ID:6796820
Promoter ID:HG_KWN:33916
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001002036
Position:
Human AssemblyChrPosition (strand)Source
Build 36296,168,276 - 96,168,787 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31704 AgrOrtholog
COSMIC ASTL COSMIC
Ensembl Genes ENSG00000188886 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000342380 ENTREZGENE
  ENST00000342380.3 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.390.10 UniProtKB/Swiss-Prot
GTEx ENSG00000188886 GTEx
HGNC ID HGNC:31704 ENTREZGENE
Human Proteome Map ASTL Human Proteome Map
InterPro MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot
  Peptidase_M12A UniProtKB/Swiss-Prot
  Peptidase_Metallo UniProtKB/Swiss-Prot
KEGG Report hsa:431705 UniProtKB/Swiss-Prot
NCBI Gene 431705 ENTREZGENE
OMIM 608860 OMIM
PANTHER ASTACIN-LIKE METALLOENDOPEPTIDASE UniProtKB/Swiss-Prot
  DISCOIDIN, CUB, EGF, LAMININ , AND ZINC METALLOPROTEASE DOMAIN CONTAINING UniProtKB/Swiss-Prot
Pfam Astacin UniProtKB/Swiss-Prot
PharmGKB PA134922299 PharmGKB
PRINTS ASTACIN UniProtKB/Swiss-Prot
PROSITE ASTACIN UniProtKB/Swiss-Prot
  ZINC_PROTEASE UniProtKB/Swiss-Prot
SMART ZnMc UniProtKB/Swiss-Prot
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot
UniProt ASTL_HUMAN UniProtKB/Swiss-Prot
  Q3B826 ENTREZGENE, UniProtKB/TrEMBL
  Q3KNT0 ENTREZGENE
  Q6HA08 ENTREZGENE
UniProt Secondary Q3KNT0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-16 ASTL  astacin like metalloendopeptidase    astacin-like metallo-endopeptidase (M12 family)  Symbol and/or name change 5135510 APPROVED