PAPPA2 (pappalysin 2) - Rat Genome Database

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Gene: PAPPA2 (pappalysin 2) Homo sapiens
Analyze
Symbol: PAPPA2
Name: pappalysin 2
RGD ID: 1312133
HGNC Page HGNC:14615
Description: Enables metalloendopeptidase activity. Involved in proteolysis. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PAPP-A2; PAPP-E; pappalysin-2; PAPPE; PLAC3; placenta-specific 3; pregnancy-associated plasma preproprotein-A2; pregnancy-associated plasma protein A2; pregnancy-associated plasma protein E1; pregnancy-associated plasma protein-E; SSDA
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
GRCh381176,463,175 - 176,845,601 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1176,463,171 - 176,845,601 (+)EnsemblGRCh38hg38GRCh38
GRCh371176,432,311 - 176,814,737 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361174,698,930 - 175,078,595 (+)NCBINCBI36Build 36hg18NCBI36
Build 341173,163,963 - 173,391,617NCBI
Celera1149,542,925 - 149,922,011 (+)NCBICelera
Cytogenetic Map1q25.2NCBI
HuRef1147,658,586 - 148,038,306 (+)NCBIHuRef
CHM1_11177,856,925 - 178,236,093 (+)NCBICHM1_1
T2T-CHM13v2.01175,818,447 - 176,200,273 (+)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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
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:9883900   PMID:11018262   PMID:11264294   PMID:11513734   PMID:11597188   PMID:12466191   PMID:12477932   PMID:14702039   PMID:15231748   PMID:16710414   PMID:18374411   PMID:18805800  
PMID:18818296   PMID:19474058   PMID:19834535   PMID:20103653   PMID:20304771   PMID:20379614   PMID:20881960   PMID:21496272   PMID:21873635   PMID:22037112   PMID:23376485   PMID:23484525  
PMID:23509962   PMID:23533145   PMID:23804707   PMID:24315451   PMID:24336677   PMID:24672801   PMID:25154785   PMID:25429064   PMID:26748159   PMID:26902202   PMID:27525857   PMID:27648969  
PMID:28700943   PMID:28854436   PMID:29144175   PMID:29238946   PMID:29532882   PMID:29653372   PMID:30816319   PMID:31103608   PMID:31961798   PMID:31994005   PMID:32004755   PMID:32739295  
PMID:32990126   PMID:33783375   PMID:34116346   PMID:34203285   PMID:34272725   PMID:34476481  


Genomics

Comparative Map Data
PAPPA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381176,463,175 - 176,845,601 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1176,463,171 - 176,845,601 (+)EnsemblGRCh38hg38GRCh38
GRCh371176,432,311 - 176,814,737 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361174,698,930 - 175,078,595 (+)NCBINCBI36Build 36hg18NCBI36
Build 341173,163,963 - 173,391,617NCBI
Celera1149,542,925 - 149,922,011 (+)NCBICelera
Cytogenetic Map1q25.2NCBI
HuRef1147,658,586 - 148,038,306 (+)NCBIHuRef
CHM1_11177,856,925 - 178,236,093 (+)NCBICHM1_1
T2T-CHM13v2.01175,818,447 - 176,200,273 (+)NCBIT2T-CHM13v2.0
Pappa2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391158,539,297 - 158,788,019 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1158,539,297 - 158,808,060 (-)EnsemblGRCm39 Ensembl
GRCm381158,711,727 - 158,960,451 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1158,711,727 - 158,980,490 (-)EnsemblGRCm38mm10GRCm38
MGSCv371160,641,862 - 160,887,569 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361160,548,404 - 160,794,115 (-)NCBIMGSCv36mm8
Celera1161,107,178 - 161,348,433 (-)NCBICelera
Cytogenetic Map1H1NCBI
cM Map168.49NCBI
Pappa2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81373,407,385 - 73,683,699 (-)NCBIGRCr8
mRatBN7.21370,873,918 - 71,147,874 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1370,876,794 - 71,147,779 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01376,389,150 - 76,660,248 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1376,389,150 - 76,660,245 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01381,303,663 - 81,574,402 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41374,286,881 - 74,379,736 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1370,687,413 - 70,959,267 (-)NCBICelera
Cytogenetic Map13q22NCBI
Pappa2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540616,169,759 - 16,430,206 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540616,167,764 - 16,430,165 (+)NCBIChiLan1.0ChiLan1.0
PAPPA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2172,873,318 - 73,515,794 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1172,543,742 - 73,186,283 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01151,727,598 - 152,369,670 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11155,675,710 - 156,066,753 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1155,769,395 - 156,063,989 (+)Ensemblpanpan1.1panPan2
PAPPA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1722,769,594 - 23,038,458 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl722,772,715 - 23,036,517 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha722,294,142 - 22,562,649 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0722,516,581 - 22,785,586 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl722,519,707 - 22,982,506 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1722,422,261 - 22,697,383 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0722,522,272 - 22,790,785 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0722,665,408 - 22,932,430 (-)NCBIUU_Cfam_GSD_1.0
Pappa2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934493,909,831 - 94,152,180 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648111,756,085 - 11,997,132 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648111,756,580 - 11,998,919 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PAPPA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9118,365,303 - 118,635,964 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19118,362,663 - 118,635,972 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29129,893,498 - 130,286,839 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PAPPA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12552,432,178 - 52,729,671 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605554,003,379 - 54,316,468 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pappa2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247715,331,793 - 5,596,752 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247715,332,013 - 5,598,678 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PAPPA2
163 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020318.2(PAPPA2):c.-917+2461G>A single nucleotide variant Lung cancer [RCV000090007] Chr1:176465879 [GRCh38]
Chr1:176435015 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.2(PAPPA2):c.-917+12173T>C single nucleotide variant Lung cancer [RCV000090008] Chr1:176475591 [GRCh38]
Chr1:176444727 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.2(PAPPA2):c.-917+27360C>T single nucleotide variant Lung cancer [RCV000090009] Chr1:176490778 [GRCh38]
Chr1:176459914 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.2(PAPPA2):c.-916-43302C>A single nucleotide variant Lung cancer [RCV000090010] Chr1:176512105 [GRCh38]
Chr1:176481241 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.2(PAPPA2):c.-916-4682A>G single nucleotide variant Lung cancer [RCV000090011] Chr1:176550725 [GRCh38]
Chr1:176519861 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.2(PAPPA2):c.919+1938C>G single nucleotide variant Lung cancer [RCV000090012] Chr1:176559179 [GRCh38]
Chr1:176528315 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.2(PAPPA2):c.920-16184A>T single nucleotide variant Lung cancer [RCV000090013] Chr1:176578340 [GRCh38]
Chr1:176547476 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.2(PAPPA2):c.1991+18159G>T single nucleotide variant Lung cancer [RCV000090014] Chr1:176613754 [GRCh38]
Chr1:176582890 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.2(PAPPA2):c.1991+20280T>C single nucleotide variant Lung cancer [RCV000090015] Chr1:176615875 [GRCh38]
Chr1:176585011 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.2(PAPPA2):c.1991+37229T>A single nucleotide variant Lung cancer [RCV000090016] Chr1:176632824 [GRCh38]
Chr1:176601960 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.2(PAPPA2):c.1992-19819A>G single nucleotide variant Lung cancer [RCV000090017] Chr1:176651151 [GRCh38]
Chr1:176620287 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.2(PAPPA2):c.1992-17997C>T single nucleotide variant Lung cancer [RCV000090018] Chr1:176652973 [GRCh38]
Chr1:176622109 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.2(PAPPA2):c.1992-5307C>G single nucleotide variant Lung cancer [RCV000090019] Chr1:176665663 [GRCh38]
Chr1:176634799 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.2(PAPPA2):c.4151+12311C>G single nucleotide variant Lung cancer [RCV000090020] Chr1:176752507 [GRCh38]
Chr1:176721643 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 copy number loss See cases [RCV000051221] Chr1:175035040..186042595 [GRCh38]
Chr1:175004176..186011727 [GRCh37]
Chr1:173270799..184278350 [NCBI36]
Chr1:1q25.1-31.1		 pathogenic
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 copy number gain See cases [RCV000051856] Chr1:164922655..180061589 [GRCh38]
Chr1:164891892..180030724 [GRCh37]
Chr1:163158516..178297347 [NCBI36]
Chr1:1q23.3-25.2		 pathogenic
NM_020318.2(PAPPA2):c.18C>T (p.Ile6=) single nucleotide variant Malignant melanoma [RCV000059995] Chr1:176556340 [GRCh38]
Chr1:176525476 [GRCh37]
Chr1:174792099 [NCBI36]
Chr1:1q25.2		 not provided
NM_020318.2(PAPPA2):c.3262C>T (p.Gln1088Ter) single nucleotide variant Malignant melanoma [RCV000059996] Chr1:176702632 [GRCh38]
Chr1:176671768 [GRCh37]
Chr1:174938391 [NCBI36]
Chr1:1q25.2		 not provided
NM_020318.2(PAPPA2):c.1419G>A (p.Glu473=) single nucleotide variant Malignant melanoma [RCV000064335] Chr1:176595023 [GRCh38]
Chr1:176564159 [GRCh37]
Chr1:174830782 [NCBI36]
Chr1:1q25.2		 not provided
NM_020318.2(PAPPA2):c.3623C>T (p.Ser1208Phe) single nucleotide variant Malignant melanoma [RCV000064336] Chr1:176710148 [GRCh38]
Chr1:176679284 [GRCh37]
Chr1:174945907 [NCBI36]
Chr1:1q25.2		 not provided
NM_020318.2(PAPPA2):c.4102C>T (p.Pro1368Ser) single nucleotide variant Malignant melanoma [RCV000064337] Chr1:176740147 [GRCh38]
Chr1:176709283 [GRCh37]
Chr1:174975906 [NCBI36]
Chr1:1q25.2		 not provided
NM_020318.2(PAPPA2):c.4413G>A (p.Leu1471=) single nucleotide variant Malignant melanoma [RCV000064338] Chr1:176769696 [GRCh38]
Chr1:176738832 [GRCh37]
Chr1:175005455 [NCBI36]
Chr1:1q25.2		 not provided
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 copy number loss See cases [RCV000134144] Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3		 pathogenic
GRCh38/hg38 1q25.2(chr1:176743655-176811980)x1 copy number loss See cases [RCV000134202] Chr1:176743655..176811980 [GRCh38]
Chr1:176712791..176781116 [GRCh37]
Chr1:174979414..175047739 [NCBI36]
Chr1:1q25.2		 benign
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1		 pathogenic
GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1 copy number loss See cases [RCV000137128] Chr1:169218236..178075834 [GRCh38]
Chr1:169187474..178044969 [GRCh37]
Chr1:167454098..176311592 [NCBI36]
Chr1:1q24.2-25.2		 pathogenic
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2		 pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1		 pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1 copy number loss See cases [RCV000239775] Chr1:172742952..181814496 [GRCh37]
Chr1:1q24.3-25.3		 pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) copy number gain not provided [RCV000767621] Chr1:169423492..180367623 [GRCh37]
Chr1:1q24.2-25.3		 pathogenic
NM_020318.3(PAPPA2):c.4075A>G (p.Thr1359Ala) single nucleotide variant Inborn genetic diseases [RCV003267089] Chr1:176740120 [GRCh38]
Chr1:176709256 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh37/hg19 1q25.2(chr1:176468508-176565098)x1 copy number loss See cases [RCV000449424] Chr1:176468508..176565098 [GRCh37]
Chr1:1q25.2		 likely benign
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3		 pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)x1 copy number loss See cases [RCV000447593] Chr1:169873155..181823980 [GRCh37]
Chr1:1q24.2-25.3		 pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_020318.3(PAPPA2):c.593G>A (p.Arg198His) single nucleotide variant Inborn genetic diseases [RCV003251057] Chr1:176556915 [GRCh38]
Chr1:176526051 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4967C>A (p.Pro1656His) single nucleotide variant Inborn genetic diseases [RCV003262290] Chr1:176791429 [GRCh38]
Chr1:176760565 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 copy number gain See cases [RCV000512520] Chr1:173138799..185129406 [GRCh37]
Chr1:1q25.1-25.3		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2		 pathogenic
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 copy number loss not provided [RCV000736735] Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1		 pathogenic
NM_020318.3(PAPPA2):c.543C>T (p.Asn181=) single nucleotide variant not provided [RCV000896943] Chr1:176556865 [GRCh38]
Chr1:176526001 [GRCh37]
Chr1:1q25.2		 benign
NM_020318.3(PAPPA2):c.1928_1929insAT (p.Asp643fs) insertion Short stature, Dauber-Argente type [RCV001568412] Chr1:176595532..176595533 [GRCh38]
Chr1:176564668..176564669 [GRCh37]
Chr1:1q25.2		 pathogenic
NM_020318.3(PAPPA2):c.2656G>T (p.Glu886Ter) single nucleotide variant Short stature, Dauber-Argente type [RCV001568414] Chr1:176695769 [GRCh38]
Chr1:176664905 [GRCh37]
Chr1:1q25.2		 pathogenic
NM_020318.3(PAPPA2):c.4392C>T (p.Cys1464=) single nucleotide variant not provided [RCV000883965] Chr1:176769675 [GRCh38]
Chr1:176738811 [GRCh37]
Chr1:1q25.2		 benign
NM_020318.3(PAPPA2):c.512C>G (p.Thr171Ser) single nucleotide variant not provided [RCV000966770] Chr1:176556834 [GRCh38]
Chr1:176525970 [GRCh37]
Chr1:1q25.2		 benign
NM_020318.3(PAPPA2):c.3510T>C (p.Phe1170=) single nucleotide variant not provided [RCV000966772] Chr1:176710035 [GRCh38]
Chr1:176679171 [GRCh37]
Chr1:1q25.2		 benign
NM_020318.3(PAPPA2):c.1475C>T (p.Ser492Leu) single nucleotide variant not provided [RCV000946531] Chr1:176595079 [GRCh38]
Chr1:176564215 [GRCh37]
Chr1:1q25.2		 likely benign
NM_020318.3(PAPPA2):c.3053C>T (p.Ser1018Leu) single nucleotide variant not provided [RCV000966771] Chr1:176699406 [GRCh38]
Chr1:176668542 [GRCh37]
Chr1:1q25.2		 benign
NM_020318.3(PAPPA2):c.4579G>T (p.Ala1527Ser) single nucleotide variant not provided [RCV000883592] Chr1:176771044 [GRCh38]
Chr1:176740180 [GRCh37]
Chr1:1q25.2		 benign
GRCh37/hg19 1q25.1-25.2(chr1:174974791-177024710)x1 copy number loss not provided [RCV001005154] Chr1:174974791..177024710 [GRCh37]
Chr1:1q25.1-25.2		 uncertain significance
GRCh37/hg19 1q25.2(chr1:176782672-176887800)x1 copy number loss not provided [RCV001005156] Chr1:176782672..176887800 [GRCh37]
Chr1:1q25.2		 uncertain significance
NC_000001.10:g.172652343_183538289del10885947 deletion 1q24q25 microdeletion syndrome [RCV000785662] Chr1:172652343..183538289 [GRCh37]
Chr1:1q24.3-25.3		 pathogenic
GRCh37/hg19 1q25.2(chr1:176376431-176611702)x1 copy number loss not provided [RCV000846339] Chr1:176376431..176611702 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.2646C>T (p.Gly882=) single nucleotide variant Inborn genetic diseases [RCV003249299] Chr1:176695759 [GRCh38]
Chr1:176664895 [GRCh37]
Chr1:1q25.2		 likely benign
NM_020318.3(PAPPA2):c.4008C>G (p.His1336Gln) single nucleotide variant Inborn genetic diseases [RCV003247919] Chr1:176740053 [GRCh38]
Chr1:176709189 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.35C>A (p.Ala12Glu) single nucleotide variant Inborn genetic diseases [RCV003249028] Chr1:176556357 [GRCh38]
Chr1:176525493 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.1351G>A (p.Ala451Thr) single nucleotide variant Inborn genetic diseases [RCV003249428] Chr1:176594955 [GRCh38]
Chr1:176564091 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.3974T>C (p.Ile1325Thr) single nucleotide variant Inborn genetic diseases [RCV003274987] Chr1:176740019 [GRCh38]
Chr1:176709155 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.2637C>T (p.Ser879=) single nucleotide variant not provided [RCV000971722] Chr1:176695750 [GRCh38]
Chr1:176664886 [GRCh37]
Chr1:1q25.2		 benign|likely benign
NM_020318.3(PAPPA2):c.3650T>C (p.Leu1217Pro) single nucleotide variant not provided [RCV000955259] Chr1:176710175 [GRCh38]
Chr1:176679311 [GRCh37]
Chr1:1q25.2		 benign
NM_020318.3(PAPPA2):c.445G>A (p.Gly149Ser) single nucleotide variant not provided [RCV000980617] Chr1:176556767 [GRCh38]
Chr1:176525903 [GRCh37]
Chr1:1q25.2		 likely benign
NM_020318.3(PAPPA2):c.3171C>T (p.Arg1057=) single nucleotide variant not provided [RCV000955815] Chr1:176699524 [GRCh38]
Chr1:176668660 [GRCh37]
Chr1:1q25.2		 benign
NM_020318.3(PAPPA2):c.2121C>T (p.Asp707=) single nucleotide variant not provided [RCV000889880] Chr1:176671099 [GRCh38]
Chr1:176640235 [GRCh37]
Chr1:1q25.2		 benign
NM_020318.3(PAPPA2):c.842A>C (p.Glu281Ala) single nucleotide variant Inborn genetic diseases [RCV002901153] Chr1:176557164 [GRCh38]
Chr1:176526300 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.3098C>T (p.Ala1033Val) single nucleotide variant Short stature, Dauber-Argente type [RCV001568413] Chr1:176699451 [GRCh38]
Chr1:176668587 [GRCh37]
Chr1:1q25.2		 pathogenic
GRCh37/hg19 1q25.1-25.2(chr1:174410914-178743636)x1 copy number loss not provided [RCV001258486] Chr1:174410914..178743636 [GRCh37]
Chr1:1q25.1-25.2		 uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 copy number gain not provided [RCV001258487] Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_020318.3(PAPPA2):c.4339A>G (p.Thr1447Ala) single nucleotide variant Inborn genetic diseases [RCV003241652] Chr1:176769622 [GRCh38]
Chr1:176738758 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980) copy number loss not specified [RCV002053713] Chr1:169873155..181823980 [GRCh37]
Chr1:1q24.2-25.3		 pathogenic
NM_020318.3(PAPPA2):c.1013TCT[2] (p.Phe340del) microsatellite not provided [RCV001825215] Chr1:176594615..176594617 [GRCh38]
Chr1:176563751..176563753 [GRCh37]
Chr1:1q25.2		 not provided
NM_020318.3(PAPPA2):c.1732C>T (p.Arg578Ter) single nucleotide variant not provided [RCV001825216] Chr1:176595336 [GRCh38]
Chr1:176564472 [GRCh37]
Chr1:1q25.2		 pathogenic|not provided
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) copy number loss not specified [RCV002053736] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3		 pathogenic
NM_020318.3(PAPPA2):c.4126G>A (p.Glu1376Lys) single nucleotide variant not provided [RCV002211024] Chr1:176740171 [GRCh38]
Chr1:176709307 [GRCh37]
Chr1:1q25.2		 likely benign
NM_020318.3(PAPPA2):c.1120C>T (p.Arg374Trp) single nucleotide variant not provided [RCV002286886] Chr1:176594724 [GRCh38]
Chr1:176563860 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4701G>A (p.Glu1567=) single nucleotide variant not provided [RCV003149474] Chr1:176771166 [GRCh38]
Chr1:176740302 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.856G>A (p.Ala286Thr) single nucleotide variant Inborn genetic diseases [RCV002729723] Chr1:176557178 [GRCh38]
Chr1:176526314 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.1322G>A (p.Ser441Asn) single nucleotide variant Inborn genetic diseases [RCV002686926] Chr1:176594926 [GRCh38]
Chr1:176564062 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.2015T>A (p.Leu672Gln) single nucleotide variant Inborn genetic diseases [RCV002906343] Chr1:176670993 [GRCh38]
Chr1:176640129 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.3481T>C (p.Tyr1161His) single nucleotide variant Inborn genetic diseases [RCV002990797] Chr1:176710006 [GRCh38]
Chr1:176679142 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4531G>A (p.Asp1511Asn) single nucleotide variant Inborn genetic diseases [RCV002864507] Chr1:176770996 [GRCh38]
Chr1:176740132 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.133T>A (p.Leu45Met) single nucleotide variant Inborn genetic diseases [RCV002733150] Chr1:176556455 [GRCh38]
Chr1:176525591 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.943A>G (p.Thr315Ala) single nucleotide variant Inborn genetic diseases [RCV002992556] Chr1:176594547 [GRCh38]
Chr1:176563683 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.2305_2306del (p.Asp769fs) microsatellite not provided [RCV002994890] Chr1:176690302..176690303 [GRCh38]
Chr1:176659438..176659439 [GRCh37]
Chr1:1q25.2		 pathogenic
NM_020318.3(PAPPA2):c.1240G>A (p.Glu414Lys) single nucleotide variant Inborn genetic diseases [RCV002882965] Chr1:176594844 [GRCh38]
Chr1:176563980 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4421A>G (p.Tyr1474Cys) single nucleotide variant Inborn genetic diseases [RCV002734725] Chr1:176769704 [GRCh38]
Chr1:176738840 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.983G>T (p.Gly328Val) single nucleotide variant Inborn genetic diseases [RCV002779612] Chr1:176594587 [GRCh38]
Chr1:176563723 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.1384C>T (p.Pro462Ser) single nucleotide variant Inborn genetic diseases [RCV002818680] Chr1:176594988 [GRCh38]
Chr1:176564124 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.1735C>T (p.His579Tyr) single nucleotide variant Inborn genetic diseases [RCV002771747] Chr1:176595339 [GRCh38]
Chr1:176564475 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4462C>T (p.Arg1488Cys) single nucleotide variant Inborn genetic diseases [RCV002752342] Chr1:176769745 [GRCh38]
Chr1:176738881 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.1072C>T (p.Arg358Cys) single nucleotide variant Inborn genetic diseases [RCV002683588] Chr1:176594676 [GRCh38]
Chr1:176563812 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.280C>T (p.Arg94Cys) single nucleotide variant Inborn genetic diseases [RCV002779564] Chr1:176556602 [GRCh38]
Chr1:176525738 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.1868G>A (p.Arg623His) single nucleotide variant Inborn genetic diseases [RCV002689783] Chr1:176595472 [GRCh38]
Chr1:176564608 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.1642C>T (p.Arg548Cys) single nucleotide variant Inborn genetic diseases [RCV002845993] Chr1:176595246 [GRCh38]
Chr1:176564382 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.805C>T (p.Arg269Trp) single nucleotide variant Inborn genetic diseases [RCV002821167] Chr1:176557127 [GRCh38]
Chr1:176526263 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4969C>A (p.Pro1657Thr) single nucleotide variant Inborn genetic diseases [RCV002758315] Chr1:176791431 [GRCh38]
Chr1:176760567 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.2702G>A (p.Arg901Gln) single nucleotide variant Inborn genetic diseases [RCV002998551] Chr1:176695815 [GRCh38]
Chr1:176664951 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.451C>A (p.Gln151Lys) single nucleotide variant Inborn genetic diseases [RCV002925646] Chr1:176556773 [GRCh38]
Chr1:176525909 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.5083A>G (p.Ile1695Val) single nucleotide variant Inborn genetic diseases [RCV002784785] Chr1:176793622 [GRCh38]
Chr1:176762758 [GRCh37]
Chr1:1q25.2		 likely benign
NM_020318.3(PAPPA2):c.1460A>T (p.Glu487Val) single nucleotide variant Inborn genetic diseases [RCV002706824] Chr1:176595064 [GRCh38]
Chr1:176564200 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.5345G>T (p.Cys1782Phe) single nucleotide variant Inborn genetic diseases [RCV002869628] Chr1:176842423 [GRCh38]
Chr1:176811559 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4360G>A (p.Asp1454Asn) single nucleotide variant Inborn genetic diseases [RCV002758602] Chr1:176769643 [GRCh38]
Chr1:176738779 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.1416T>G (p.Asp472Glu) single nucleotide variant Inborn genetic diseases [RCV002987823] Chr1:176595020 [GRCh38]
Chr1:176564156 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.1049C>A (p.Ala350Asp) single nucleotide variant Inborn genetic diseases [RCV002915670] Chr1:176594653 [GRCh38]
Chr1:176563789 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4348T>C (p.Ser1450Pro) single nucleotide variant Inborn genetic diseases [RCV002850345] Chr1:176769631 [GRCh38]
Chr1:176738767 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4392C>A (p.Cys1464Ter) single nucleotide variant not provided [RCV003059017] Chr1:176769675 [GRCh38]
Chr1:176738811 [GRCh37]
Chr1:1q25.2		 pathogenic
NM_020318.3(PAPPA2):c.5186G>T (p.Cys1729Phe) single nucleotide variant Inborn genetic diseases [RCV002874783] Chr1:176800116 [GRCh38]
Chr1:176769252 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4630G>A (p.Asp1544Asn) single nucleotide variant Inborn genetic diseases [RCV002827392] Chr1:176771095 [GRCh38]
Chr1:176740231 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.145C>T (p.Arg49Cys) single nucleotide variant Inborn genetic diseases [RCV002645489] Chr1:176556467 [GRCh38]
Chr1:176525603 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.1210C>T (p.Arg404Cys) single nucleotide variant Inborn genetic diseases [RCV003003479] Chr1:176594814 [GRCh38]
Chr1:176563950 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4903A>G (p.Lys1635Glu) single nucleotide variant Inborn genetic diseases [RCV002915097] Chr1:176791365 [GRCh38]
Chr1:176760501 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.3754C>T (p.Gln1252Ter) single nucleotide variant not provided [RCV003084416] Chr1:176711937 [GRCh38]
Chr1:176681073 [GRCh37]
Chr1:1q25.2		 pathogenic
NM_020318.3(PAPPA2):c.4087A>G (p.Ile1363Val) single nucleotide variant Inborn genetic diseases [RCV002709695] Chr1:176740132 [GRCh38]
Chr1:176709268 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.2072C>T (p.Ser691Leu) single nucleotide variant Inborn genetic diseases [RCV002641931] Chr1:176671050 [GRCh38]
Chr1:176640186 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.3122A>G (p.His1041Arg) single nucleotide variant Inborn genetic diseases [RCV002763693] Chr1:176699475 [GRCh38]
Chr1:176668611 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.722A>G (p.Gln241Arg) single nucleotide variant Inborn genetic diseases [RCV002698277] Chr1:176557044 [GRCh38]
Chr1:176526180 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4729_4744del (p.Ile1577fs) deletion not provided [RCV002623387] Chr1:176789818..176789833 [GRCh38]
Chr1:176758954..176758969 [GRCh37]
Chr1:1q25.2		 pathogenic
NM_020318.3(PAPPA2):c.3073T>C (p.Phe1025Leu) single nucleotide variant Inborn genetic diseases [RCV002675383] Chr1:176699426 [GRCh38]
Chr1:176668562 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.602T>C (p.Val201Ala) single nucleotide variant Inborn genetic diseases [RCV002807604] Chr1:176556924 [GRCh38]
Chr1:176526060 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4876C>T (p.Arg1626Cys) single nucleotide variant Inborn genetic diseases [RCV002717476] Chr1:176789969 [GRCh38]
Chr1:176759105 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4975G>C (p.Glu1659Gln) single nucleotide variant Inborn genetic diseases [RCV002808231] Chr1:176791437 [GRCh38]
Chr1:176760573 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.3376G>T (p.Glu1126Ter) single nucleotide variant not provided [RCV002966066] Chr1:176706369 [GRCh38]
Chr1:176675505 [GRCh37]
Chr1:1q25.2		 pathogenic
NM_020318.3(PAPPA2):c.16A>G (p.Ile6Val) single nucleotide variant Inborn genetic diseases [RCV002832350] Chr1:176556338 [GRCh38]
Chr1:176525474 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4499A>G (p.Gln1500Arg) single nucleotide variant Inborn genetic diseases [RCV002808230] Chr1:176769782 [GRCh38]
Chr1:176738918 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.3496A>G (p.Ile1166Val) single nucleotide variant Inborn genetic diseases [RCV002674518] Chr1:176710021 [GRCh38]
Chr1:176679157 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.1056C>G (p.Ile352Met) single nucleotide variant Inborn genetic diseases [RCV002959436] Chr1:176594660 [GRCh38]
Chr1:176563796 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.1678C>T (p.Arg560Cys) single nucleotide variant Inborn genetic diseases [RCV002656111] Chr1:176595282 [GRCh38]
Chr1:176564418 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.623A>G (p.Asp208Gly) single nucleotide variant Inborn genetic diseases [RCV003200134] Chr1:176556945 [GRCh38]
Chr1:176526081 [GRCh37]
Chr1:1q25.2		 likely benign
NM_020318.3(PAPPA2):c.3798+10C>A single nucleotide variant Short stature, Dauber-Argente type [RCV003134746] Chr1:176711991 [GRCh38]
Chr1:176681127 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.1394C>T (p.Thr465Ile) single nucleotide variant Inborn genetic diseases [RCV003206589] Chr1:176594998 [GRCh38]
Chr1:176564134 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.626G>A (p.Gly209Glu) single nucleotide variant Inborn genetic diseases [RCV003283244] Chr1:176556948 [GRCh38]
Chr1:176526084 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.4208A>G (p.His1403Arg) single nucleotide variant Inborn genetic diseases [RCV003198296] Chr1:176765722 [GRCh38]
Chr1:176734858 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.3797A>G (p.Lys1266Arg) single nucleotide variant Inborn genetic diseases [RCV003218425] Chr1:176711980 [GRCh38]
Chr1:176681116 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.920G>A (p.Gly307Asp) single nucleotide variant Inborn genetic diseases [RCV003209834] Chr1:176594524 [GRCh38]
Chr1:176563660 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.641G>T (p.Gly214Val) single nucleotide variant Inborn genetic diseases [RCV003203669] Chr1:176556963 [GRCh38]
Chr1:176526099 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.389T>A (p.Val130Glu) single nucleotide variant Inborn genetic diseases [RCV003204263] Chr1:176556711 [GRCh38]
Chr1:176525847 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.1032C>T (p.Thr344=) single nucleotide variant not provided [RCV003421220] Chr1:176594636 [GRCh38]
Chr1:176563772 [GRCh37]
Chr1:1q25.2		 likely benign
NM_020318.3(PAPPA2):c.1039G>A (p.Val347Met) single nucleotide variant not provided [RCV003421221] Chr1:176594643 [GRCh38]
Chr1:176563779 [GRCh37]
Chr1:1q25.2		 likely benign
NM_020318.3(PAPPA2):c.4383C>T (p.Pro1461=) single nucleotide variant not provided [RCV003421225] Chr1:176769666 [GRCh38]
Chr1:176738802 [GRCh37]
Chr1:1q25.2		 likely benign
NM_020318.3(PAPPA2):c.3118C>G (p.Pro1040Ala) single nucleotide variant Inborn genetic diseases [RCV003365085] Chr1:176699471 [GRCh38]
Chr1:176668607 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.2675A>T (p.Gln892Leu) single nucleotide variant Inborn genetic diseases [RCV003375903] Chr1:176695788 [GRCh38]
Chr1:176664924 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.3151G>A (p.Val1051Met) single nucleotide variant Inborn genetic diseases [RCV003372341] Chr1:176699504 [GRCh38]
Chr1:176668640 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.3640C>T (p.Pro1214Ser) single nucleotide variant Inborn genetic diseases [RCV003385009] Chr1:176710165 [GRCh38]
Chr1:176679301 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.2300C>T (p.Thr767Met) single nucleotide variant Inborn genetic diseases [RCV003356150] Chr1:176690299 [GRCh38]
Chr1:176659435 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_020318.3(PAPPA2):c.3822G>A (p.Glu1274=) single nucleotide variant not provided [RCV003421224] Chr1:176739649 [GRCh38]
Chr1:176708785 [GRCh37]
Chr1:1q25.2		 likely benign
NM_020318.3(PAPPA2):c.2406G>A (p.Pro802=) single nucleotide variant not provided [RCV003421223] Chr1:176690405 [GRCh38]
Chr1:176659541 [GRCh37]
Chr1:1q25.2		 likely benign
NM_020318.3(PAPPA2):c.4933T>C (p.Leu1645=) single nucleotide variant not provided [RCV003421226] Chr1:176791395 [GRCh38]
Chr1:176760531 [GRCh37]
Chr1:1q25.2		 likely benign
NM_020318.3(PAPPA2):c.1240G>C (p.Glu414Gln) single nucleotide variant PAPPA2-related condition [RCV003906716]|not provided [RCV003421222] Chr1:176594844 [GRCh38]
Chr1:176563980 [GRCh37]
Chr1:1q25.2		 likely benign
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 copy number loss not specified [RCV003987250] Chr1:167994071..187711459 [GRCh37]
Chr1:1q24.2-31.1		 pathogenic
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 copy number gain not specified [RCV003986506] Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3		 pathogenic
NM_020318.3(PAPPA2):c.3365+10T>G single nucleotide variant PAPPA2-related condition [RCV003921675] Chr1:176702745 [GRCh38]
Chr1:176671881 [GRCh37]
Chr1:1q25.2		 likely benign
NM_020318.3(PAPPA2):c.2375C>T (p.Thr792Ile) single nucleotide variant PAPPA2-related condition [RCV003917246] Chr1:176690374 [GRCh38]
Chr1:176659510 [GRCh37]
Chr1:1q25.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1931
Count of miRNA genes:1020
Interacting mature miRNAs:1235
Transcripts:ENST00000367661, ENST00000367662, ENST00000479836, ENST00000486075, ENST00000493665
Prediction methods:Microtar, 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
D1S2659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,671,859 - 176,672,068UniSTSGRCh37
Build 361174,938,482 - 174,938,691RGDNCBI36
Celera1149,781,903 - 149,782,112RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,898,191 - 147,898,392UniSTS
Marshfield Genetic Map1192.05RGD
Marshfield Genetic Map1192.05UniSTS
Genethon Genetic Map1197.0UniSTS
deCODE Assembly Map1178.47UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S2769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,629,371 - 176,629,601UniSTSGRCh37
Build 361174,895,994 - 174,896,224RGDNCBI36
Celera1149,739,429 - 149,739,659RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,855,719 - 147,855,945UniSTS
Marshfield Genetic Map1192.05RGD
Marshfield Genetic Map1192.05UniSTS
Genethon Genetic Map1197.0UniSTS
deCODE Assembly Map1178.26UniSTS
Whitehead-YAC Contig Map1 UniSTS
SHGC-75964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,735,719 - 176,735,877UniSTSGRCh37
Build 361175,002,342 - 175,002,500RGDNCBI36
Celera1149,845,774 - 149,845,932RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,962,058 - 147,962,216UniSTS
TNG Radiation Hybrid Map182370.0UniSTS
GeneMap99-GB4 RH Map1628.71UniSTS
SHGC-37668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,701,090 - 176,701,239UniSTSGRCh37
Build 361174,967,713 - 174,967,862RGDNCBI36
Celera1149,811,129 - 149,811,278RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,927,407 - 147,927,556UniSTS
Stanford-G3 RH Map17039.0UniSTS
NCBI RH Map11553.1UniSTS
GeneMap99-G3 RH Map16995.0UniSTS
AL009861  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,789,853 - 176,790,042UniSTSGRCh37
Build 361175,056,476 - 175,056,665RGDNCBI36
Celera1149,899,894 - 149,900,083RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1148,016,189 - 148,016,378UniSTS
SHGC-34079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,691,582 - 176,691,706UniSTSGRCh37
Build 361174,958,205 - 174,958,329RGDNCBI36
Celera1149,801,622 - 149,801,746RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,917,900 - 147,918,024UniSTS
Stanford-G3 RH Map16696.0UniSTS
GeneMap99-GB4 RH Map1627.38UniSTS
Whitehead-RH Map1782.4UniSTS
NCBI RH Map11553.1UniSTS
GeneMap99-G3 RH Map16652.0UniSTS
SHGC-75955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,683,315 - 176,683,423UniSTSGRCh37
Build 361174,949,938 - 174,950,046RGDNCBI36
Celera1149,793,358 - 149,793,466RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,909,637 - 147,909,745UniSTS
TNG Radiation Hybrid Map182349.0UniSTS
GeneMap99-GB4 RH Map1627.38UniSTS
NCBI RH Map11540.9UniSTS
D1S2605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,804,450 - 176,804,571UniSTSGRCh37
GRCh371176,804,450 - 176,804,631UniSTSGRCh37
Build 361175,071,073 - 175,071,254RGDNCBI36
Celera1149,914,491 - 149,914,672RGD
Celera1149,914,491 - 149,914,612UniSTS
Cytogenetic Map1q23-q25UniSTS
HuRef1148,030,786 - 148,030,967UniSTS
HuRef1148,030,786 - 148,030,907UniSTS
TNG Radiation Hybrid Map182386.0UniSTS
Stanford-G3 RH Map17028.0UniSTS
NCBI RH Map11553.1UniSTS
SHGC-77961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,675,176 - 176,675,371UniSTSGRCh37
Build 361174,941,799 - 174,941,994RGDNCBI36
Celera1149,785,219 - 149,785,414RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,901,499 - 147,901,694UniSTS
TNG Radiation Hybrid Map182338.0UniSTS
RH102619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,529,854 - 176,529,998UniSTSGRCh37
Build 361174,796,477 - 174,796,621RGDNCBI36
Celera1149,639,915 - 149,640,059RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,755,552 - 147,755,696UniSTS
GeneMap99-GB4 RH Map1628.71UniSTS
SHGC-81473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,706,931 - 176,707,264UniSTSGRCh37
Build 361174,973,554 - 174,973,887RGDNCBI36
Celera1149,816,958 - 149,817,291RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,933,236 - 147,933,569UniSTS
TNG Radiation Hybrid Map182360.0UniSTS
SHGC-84715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,513,205 - 176,513,553UniSTSGRCh37
Build 361174,779,828 - 174,780,176RGDNCBI36
Celera1149,623,265 - 149,623,613RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,738,902 - 147,739,250UniSTS
TNG Radiation Hybrid Map182266.0UniSTS
SHGC-84735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,596,546 - 176,596,774UniSTSGRCh37
Build 361174,863,169 - 174,863,397RGDNCBI36
Celera1149,706,598 - 149,706,826RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,822,891 - 147,823,119UniSTS
TNG Radiation Hybrid Map182295.0UniSTS
SHGC-84740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,542,075 - 176,542,383UniSTSGRCh37
Build 361174,808,698 - 174,809,006RGDNCBI36
Celera1149,652,136 - 149,652,444RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,768,309 - 147,768,617UniSTS
TNG Radiation Hybrid Map182280.0UniSTS
RH118921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,706,609 - 176,706,905UniSTSGRCh37
Build 361174,973,232 - 174,973,528RGDNCBI36
Celera1149,816,636 - 149,816,932RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,932,914 - 147,933,210UniSTS
TNG Radiation Hybrid Map182360.0UniSTS
SHGC-105204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,744,181 - 176,744,500UniSTSGRCh37
Build 361175,010,804 - 175,011,123RGDNCBI36
Celera1149,854,236 - 149,854,555RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,970,520 - 147,970,839UniSTS
TNG Radiation Hybrid Map182370.0UniSTS
RH12616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,524,841 - 176,525,026UniSTSGRCh37
Build 361174,791,464 - 174,791,649RGDNCBI36
Celera1149,634,901 - 149,635,086RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,750,538 - 147,750,723UniSTS
GeneMap99-GB4 RH Map1628.71UniSTS
SHGC-75965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,481,211 - 176,481,338UniSTSGRCh37
Build 361174,747,834 - 174,747,961RGDNCBI36
Celera1149,591,272 - 149,591,399RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,706,911 - 147,707,038UniSTS
TNG Radiation Hybrid Map182241.0UniSTS
GeneMap99-GB4 RH Map1628.71UniSTS
Whitehead-RH Map1783.8UniSTS
NCBI RH Map11506.7UniSTS
RH78138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,499,509 - 176,499,639UniSTSGRCh37
Build 361174,766,132 - 174,766,262RGDNCBI36
Celera1149,609,569 - 149,609,699RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,725,206 - 147,725,336UniSTS
GeneMap99-GB4 RH Map1628.71UniSTS
NCBI RH Map11506.7UniSTS
G20532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,814,466 - 176,814,668UniSTSGRCh37
Build 361175,081,089 - 175,081,291RGDNCBI36
Celera1149,924,501 - 149,924,703RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1148,040,796 - 148,040,998UniSTS
G20401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,814,529 - 176,814,668UniSTSGRCh37
Build 361175,081,152 - 175,081,291RGDNCBI36
Celera1149,924,564 - 149,924,703RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1148,040,859 - 148,040,998UniSTS
A005V17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,814,466 - 176,814,668UniSTSGRCh37
Build 361175,081,089 - 175,081,291RGDNCBI36
Celera1149,924,501 - 149,924,703RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1148,040,796 - 148,040,998UniSTS
GeneMap99-GB4 RH Map1628.71UniSTS
A005P32  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,814,529 - 176,814,668UniSTSGRCh37
Build 361175,081,152 - 175,081,291RGDNCBI36
Celera1149,924,564 - 149,924,703RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1148,040,859 - 148,040,998UniSTS
GeneMap99-GB4 RH Map1628.71UniSTS
PLAC3_8080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,811,576 - 176,812,102UniSTSGRCh37
Build 361175,078,199 - 175,078,725RGDNCBI36
Celera1149,921,615 - 149,922,141RGD
HuRef1148,037,910 - 148,038,436UniSTS
SHGC-75961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,740,584 - 176,740,763UniSTSGRCh37
Build 361175,007,207 - 175,007,386RGDNCBI36
Celera1149,850,639 - 149,850,818RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,966,923 - 147,967,102UniSTS
TNG Radiation Hybrid Map182370.0UniSTS
GeneMap99-GB4 RH Map1628.71UniSTS
NCBI RH Map11506.7UniSTS
RH12244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,524,878 - 176,525,082UniSTSGRCh37
Build 361174,791,501 - 174,791,705RGDNCBI36
Celera1149,634,938 - 149,635,142RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,750,575 - 147,750,779UniSTS
GeneMap99-GB4 RH Map1628.71UniSTS
NCBI RH Map11505.7UniSTS
AFMa082xe9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,703,388 - 176,703,620UniSTSGRCh37
Build 361174,970,011 - 174,970,243RGDNCBI36
Celera1149,813,427 - 149,813,659RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,929,705 - 147,929,937UniSTS
Whitehead-RH Map1783.7UniSTS
Whitehead-YAC Contig Map1 UniSTS
RH69675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,701,067 - 176,701,210UniSTSGRCh37
Build 361174,967,690 - 174,967,833RGDNCBI36
Celera1149,811,106 - 149,811,249RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1147,927,384 - 147,927,527UniSTS
GeneMap99-GB4 RH Map1628.71UniSTS
NCBI RH Map11506.7UniSTS
SHGC-75963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,774,964 - 176,775,064UniSTSGRCh37
Build 361175,041,587 - 175,041,687RGDNCBI36
Celera1149,885,019 - 149,885,119RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1148,001,303 - 148,001,403UniSTS
TNG Radiation Hybrid Map182375.0UniSTS
GeneMap99-GB4 RH Map1628.71UniSTS
WI-11981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,814,580 - 176,814,729UniSTSGRCh37
Build 361175,081,203 - 175,081,352RGDNCBI36
Celera1149,924,615 - 149,924,764RGD
Cytogenetic Map1q23-q25UniSTS
HuRef1148,040,910 - 148,041,059UniSTS
GeneMap99-GB4 RH Map1628.71UniSTS
GeneMap99-GB4 RH Map1628.78UniSTS
Whitehead-RH Map1783.9UniSTS
A008K20  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q23-q25UniSTS
HuRef1147,725,138 - 147,725,361UniSTS
GeneMap99-GB4 RH Map1627.38UniSTS
NCBI RH Map11553.1UniSTS
D1S2605  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q23-q25UniSTS
Stanford-G3 RH Map17028.0UniSTS
NCBI RH Map11553.1UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 10 6 18 8 8 10 4 18 62 16 9 1 2 5 2
Low 765 537 869 138 72 132 1204 90 1104 186 570 717 8 763 549 2
Below cutoff 1502 2184 746 404 1040 250 3043 1993 2575 112 717 764 160 438 2195

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF311940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF342989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF342990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ278348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL596254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX428040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA461825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000367661   ⟹   ENSP00000356633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,463,171 - 176,691,204 (+)Ensembl
RefSeq Acc Id: ENST00000367662   ⟹   ENSP00000356634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,463,175 - 176,845,601 (+)Ensembl
RefSeq Acc Id: ENST00000479836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,791,445 - 176,836,802 (+)Ensembl
RefSeq Acc Id: ENST00000486075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,553,488 - 176,555,736 (+)Ensembl
RefSeq Acc Id: ENST00000493665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,537,303 - 176,555,711 (+)Ensembl
RefSeq Acc Id: NM_020318   ⟹   NP_064714
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,463,175 - 176,845,601 (+)NCBI
GRCh371176,432,307 - 176,814,737 (+)NCBI
Build 361174,698,930 - 175,078,595 (+)NCBI Archive
HuRef1147,658,586 - 148,038,306 (+)ENTREZGENE
CHM1_11177,856,925 - 178,236,093 (+)NCBI
T2T-CHM13v2.01175,818,496 - 176,200,273 (+)NCBI
Sequence:
RefSeq Acc Id: NM_021936   ⟹   NP_068755
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,463,175 - 176,691,205 (+)NCBI
GRCh371176,432,307 - 176,814,737 (+)NCBI
Build 361174,698,930 - 174,926,964 (+)NCBI Archive
HuRef1147,658,586 - 148,038,306 (+)ENTREZGENE
CHM1_11177,856,925 - 178,084,417 (+)NCBI
T2T-CHM13v2.01175,818,496 - 176,045,935 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005245422   ⟹   XP_005245479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,553,484 - 176,845,601 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509857   ⟹   XP_011508159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,463,175 - 176,845,601 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002023   ⟹   XP_016857512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,463,175 - 176,845,601 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002024   ⟹   XP_016857513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,463,175 - 176,845,601 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047427180   ⟹   XP_047283136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,463,175 - 176,845,601 (+)NCBI
RefSeq Acc Id: XM_054338079   ⟹   XP_054194054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01175,818,447 - 176,200,273 (+)NCBI
RefSeq Acc Id: XM_054338080   ⟹   XP_054194055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01175,818,496 - 176,200,273 (+)NCBI
RefSeq Acc Id: XM_054338081   ⟹   XP_054194056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01175,818,496 - 176,200,273 (+)NCBI
RefSeq Acc Id: XM_054338082   ⟹   XP_054194057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01175,818,496 - 176,200,273 (+)NCBI
RefSeq Acc Id: XM_054338083   ⟹   XP_054194058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01175,908,217 - 176,200,273 (+)NCBI
RefSeq Acc Id: XM_054338084   ⟹   XP_054194059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01175,909,819 - 176,200,273 (+)NCBI
RefSeq Acc Id: XM_054338085   ⟹   XP_054194060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01175,908,583 - 176,200,273 (+)NCBI
Protein Sequences
Protein RefSeqs NP_064714 (Get FASTA)   NCBI Sequence Viewer  
  NP_068755 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245479 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508159 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857512 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857513 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283136 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194054 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194055 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194056 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194057 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194058 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194059 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194060 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI17194 (Get FASTA)   NCBI Sequence Viewer  
  AAI17196 (Get FASTA)   NCBI Sequence Viewer  
  AAK31073 (Get FASTA)   NCBI Sequence Viewer  
  AAL17779 (Get FASTA)   NCBI Sequence Viewer  
  AAL17780 (Get FASTA)   NCBI Sequence Viewer  
  BAD92606 (Get FASTA)   NCBI Sequence Viewer  
  CAC11134 (Get FASTA)   NCBI Sequence Viewer  
  CAD35982 (Get FASTA)   NCBI Sequence Viewer  
  CCD35052 (Get FASTA)   NCBI Sequence Viewer  
  EAW91003 (Get FASTA)   NCBI Sequence Viewer  
  EAW91004 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000356633
  ENSP00000356633.3
  ENSP00000356634
  ENSP00000356634.3
GenBank Protein Q9BXP8 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_064714   ⟸   NM_020318
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96PH8 (UniProtKB/Swiss-Prot),   Q96PH7 (UniProtKB/Swiss-Prot),   A9Z1Y8 (UniProtKB/Swiss-Prot),   Q9H4C9 (UniProtKB/Swiss-Prot),   Q9BXP8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_068755   ⟸   NM_021936
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9BXP8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005245479   ⟸   XM_005245422
- Peptide Label: isoform X1
- UniProtKB: Q96PH8 (UniProtKB/Swiss-Prot),   Q96PH7 (UniProtKB/Swiss-Prot),   A9Z1Y8 (UniProtKB/Swiss-Prot),   Q9H4C9 (UniProtKB/Swiss-Prot),   Q9BXP8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011508159   ⟸   XM_011509857
- Peptide Label: isoform X1
- UniProtKB: Q96PH8 (UniProtKB/Swiss-Prot),   Q96PH7 (UniProtKB/Swiss-Prot),   A9Z1Y8 (UniProtKB/Swiss-Prot),   Q9H4C9 (UniProtKB/Swiss-Prot),   Q9BXP8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016857513   ⟸   XM_017002024
- Peptide Label: isoform X1
- UniProtKB: Q96PH8 (UniProtKB/Swiss-Prot),   Q96PH7 (UniProtKB/Swiss-Prot),   A9Z1Y8 (UniProtKB/Swiss-Prot),   Q9H4C9 (UniProtKB/Swiss-Prot),   Q9BXP8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016857512   ⟸   XM_017002023
- Peptide Label: isoform X1
- UniProtKB: Q96PH8 (UniProtKB/Swiss-Prot),   Q96PH7 (UniProtKB/Swiss-Prot),   A9Z1Y8 (UniProtKB/Swiss-Prot),   Q9H4C9 (UniProtKB/Swiss-Prot),   Q9BXP8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000356634   ⟸   ENST00000367662
RefSeq Acc Id: ENSP00000356633   ⟸   ENST00000367661
RefSeq Acc Id: XP_047283136   ⟸   XM_047427180
- Peptide Label: isoform X1
- UniProtKB: Q9BXP8 (UniProtKB/Swiss-Prot),   Q96PH8 (UniProtKB/Swiss-Prot),   Q96PH7 (UniProtKB/Swiss-Prot),   A9Z1Y8 (UniProtKB/Swiss-Prot),   Q9H4C9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194054   ⟸   XM_054338079
- Peptide Label: isoform X1
- UniProtKB: Q9BXP8 (UniProtKB/Swiss-Prot),   Q96PH8 (UniProtKB/Swiss-Prot),   Q96PH7 (UniProtKB/Swiss-Prot),   A9Z1Y8 (UniProtKB/Swiss-Prot),   Q9H4C9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194056   ⟸   XM_054338081
- Peptide Label: isoform X1
- UniProtKB: Q9BXP8 (UniProtKB/Swiss-Prot),   Q96PH8 (UniProtKB/Swiss-Prot),   Q96PH7 (UniProtKB/Swiss-Prot),   A9Z1Y8 (UniProtKB/Swiss-Prot),   Q9H4C9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194057   ⟸   XM_054338082
- Peptide Label: isoform X1
- UniProtKB: Q9BXP8 (UniProtKB/Swiss-Prot),   Q96PH8 (UniProtKB/Swiss-Prot),   Q96PH7 (UniProtKB/Swiss-Prot),   A9Z1Y8 (UniProtKB/Swiss-Prot),   Q9H4C9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194055   ⟸   XM_054338080
- Peptide Label: isoform X1
- UniProtKB: Q9BXP8 (UniProtKB/Swiss-Prot),   Q96PH8 (UniProtKB/Swiss-Prot),   Q96PH7 (UniProtKB/Swiss-Prot),   A9Z1Y8 (UniProtKB/Swiss-Prot),   Q9H4C9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194058   ⟸   XM_054338083
- Peptide Label: isoform X1
- UniProtKB: Q9BXP8 (UniProtKB/Swiss-Prot),   Q96PH8 (UniProtKB/Swiss-Prot),   Q96PH7 (UniProtKB/Swiss-Prot),   A9Z1Y8 (UniProtKB/Swiss-Prot),   Q9H4C9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194060   ⟸   XM_054338085
- Peptide Label: isoform X1
- UniProtKB: Q9BXP8 (UniProtKB/Swiss-Prot),   Q96PH8 (UniProtKB/Swiss-Prot),   Q96PH7 (UniProtKB/Swiss-Prot),   A9Z1Y8 (UniProtKB/Swiss-Prot),   Q9H4C9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194059   ⟸   XM_054338084
- Peptide Label: isoform X1
- UniProtKB: Q9BXP8 (UniProtKB/Swiss-Prot),   Q96PH8 (UniProtKB/Swiss-Prot),   Q96PH7 (UniProtKB/Swiss-Prot),   A9Z1Y8 (UniProtKB/Swiss-Prot),   Q9H4C9 (UniProtKB/Swiss-Prot)
Protein Domains
Sushi

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BXP8-F1-model_v2 AlphaFold Q9BXP8 1-1791 view protein structure

Promoters
RGD ID:6858206
Promoter ID:EPDNEW_H2268
Type:multiple initiation site
Name:PAPPA2_2
Description:pappalysin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2267  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,463,175 - 176,463,235EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14615 AgrOrtholog
COSMIC PAPPA2 COSMIC
Ensembl Genes ENSG00000116183 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000367661 ENTREZGENE
  ENST00000367661.7 UniProtKB/Swiss-Prot
  ENST00000367662 ENTREZGENE
  ENST00000367662.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot
  3.40.390.10 UniProtKB/Swiss-Prot
  Complement Module, domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000116183 GTEx
HGNC ID HGNC:14615 ENTREZGENE
Human Proteome Map PAPPA2 Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/Swiss-Prot
  FN3_sf UniProtKB/Swiss-Prot
  LamG-like UniProtKB/Swiss-Prot
  MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot
  Myxo_disulph_rpt UniProtKB/Swiss-Prot
  Notch_dom UniProtKB/Swiss-Prot
  PAPPA/PAPPA2 UniProtKB/Swiss-Prot
  Peptidase_M43 UniProtKB/Swiss-Prot
  Sushi/SCR/CCP_sf UniProtKB/Swiss-Prot
  Sushi_SCR_CCP_dom UniProtKB/Swiss-Prot
KEGG Report hsa:60676 UniProtKB/Swiss-Prot
NCBI Gene 60676 ENTREZGENE
OMIM 619485 OMIM
PANTHER PTHR46130 UniProtKB/Swiss-Prot
  PTHR46130:SF1 UniProtKB/Swiss-Prot
Pfam Laminin_G_3 UniProtKB/Swiss-Prot
  Peptidase_M43 UniProtKB/Swiss-Prot
  Sushi UniProtKB/Swiss-Prot
PharmGKB PA33373 PharmGKB
PROSITE SUSHI UniProtKB/Swiss-Prot
  ZINC_PROTEASE UniProtKB/Swiss-Prot
SMART CCP UniProtKB/Swiss-Prot
  LamGL UniProtKB/Swiss-Prot
  SM00004 UniProtKB/Swiss-Prot
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot
  SSF49265 UniProtKB/Swiss-Prot
  SSF49899 UniProtKB/Swiss-Prot
  SSF57535 UniProtKB/Swiss-Prot
UniProt A9Z1Y8 ENTREZGENE
  PAPP2_HUMAN UniProtKB/Swiss-Prot
  Q96PH7 ENTREZGENE
  Q96PH8 ENTREZGENE
  Q9BXP8 ENTREZGENE
  Q9H4C9 ENTREZGENE
UniProt Secondary A9Z1Y8 UniProtKB/Swiss-Prot
  Q96PH7 UniProtKB/Swiss-Prot
  Q96PH8 UniProtKB/Swiss-Prot
  Q9H4C9 UniProtKB/Swiss-Prot