AP2S1 (adaptor related protein complex 2 subunit sigma 1) - Rat Genome Database

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Gene: AP2S1 (adaptor related protein complex 2 subunit sigma 1) Homo sapiens
Analyze
Symbol: AP2S1
Name: adaptor related protein complex 2 subunit sigma 1
RGD ID: 732482
HGNC Page HGNC:565
Description: Predicted to contribute to clathrin adaptor activity. Involved in synaptic vesicle endocytosis. Predicted to be located in cytoplasmic vesicle membrane; cytosol; and plasma membrane. Predicted to be part of AP-2 adaptor complex. Predicted to be active in glutamatergic synapse and intracellular membrane-bounded organelle. Predicted to be extrinsic component of presynaptic endocytic zone membrane. Implicated in familial hypocalciuric hypercalcemia 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adapter-related protein complex 2 sigma subunit; adapter-related protein complex 2 subunit sigma; adaptor protein complex AP-2 subunit sigma; adaptor related protein complex 2 sigma 1 subunit; adaptor-related protein complex 2 sigma 1 subunit; adaptor-related protein complex 2 subunit sigma; adaptor-related protein complex 2, sigma 1 subunit; AP-2 complex subunit sigma; AP17; AP17-DELTA; CLAPS2; clathrin assembly protein 2 sigma small chain; clathrin assembly protein 2 small chain; clathrin coat assembly protein AP17; clathrin coat-associated protein AP17; clathrin-associated/assembly/adaptor protein, small 2 (17kD); FBH3; FBHOk; HA2 17 kDa subunit; HHC3; hypocalciuric hypercalcemia 3 (Oklahoma type); plasma membrane adaptor AP-2 17 kDa protein; sigma-2; sigma2-adaptin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
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
GRCh381946,838,167 - 46,850,846 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1946,838,136 - 46,850,846 (-)EnsemblGRCh38hg38GRCh38
GRCh371947,341,424 - 47,354,103 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361952,033,263 - 52,046,043 (-)NCBINCBI36Build 36hg18NCBI36
Build 341952,033,263 - 52,045,931NCBI
Celera1944,145,679 - 44,158,458 (-)NCBICelera
Cytogenetic Map19q13.32NCBI
HuRef1943,766,567 - 43,779,262 (-)NCBIHuRef
CHM1_11947,343,326 - 47,356,098 (-)NCBICHM1_1
T2T-CHM13v2.01949,664,001 - 49,676,674 (-)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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
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. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Synaptic vesicle endocytosis. Saheki Y and De Camilli P, Cold Spring Harb Perspect Biol. 2012 Sep 1;4(9):a005645. doi: 10.1101/cshperspect.a005645.
8. Murine double nullizygotes of the angiotensin type 1A and 1B receptor genes duplicate severe abnormal phenotypes of angiotensinogen nullizygotes. Tsuchida S, etal., J Clin Invest 1998 Feb 15;101(4):755-60.
9. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:2014052   PMID:2040623   PMID:2495531   PMID:7593184   PMID:9040778   PMID:9767099   PMID:9882340   PMID:9915958   PMID:10567358   PMID:10753805   PMID:11102472   PMID:11157096  
PMID:12086608   PMID:12121421   PMID:12477932   PMID:12577067   PMID:15020715   PMID:15489334   PMID:15941406   PMID:16055064   PMID:16103193   PMID:16139856   PMID:16712791   PMID:17108326  
PMID:17210199   PMID:17353931   PMID:19380743   PMID:19738201   PMID:20012524   PMID:21762802   PMID:21873635   PMID:21988832   PMID:22623428   PMID:22810586   PMID:23077317   PMID:23151229  
PMID:23211419   PMID:23222959   PMID:23751493   PMID:23874206   PMID:24189400   PMID:24423332   PMID:24473078   PMID:24708097   PMID:24731014   PMID:24797263   PMID:25416956   PMID:25681748  
PMID:25754235   PMID:25898166   PMID:26082470   PMID:26186194   PMID:26344197   PMID:26472760   PMID:26496610   PMID:26638075   PMID:26972000   PMID:27173435   PMID:27545878   PMID:27913609  
PMID:28176280   PMID:28190767   PMID:28514442   PMID:29180619   PMID:29184887   PMID:29229926   PMID:29420171   PMID:29467281   PMID:29467282   PMID:29509190   PMID:29560723   PMID:29892012  
PMID:29997244   PMID:30340022   PMID:30572598   PMID:31340145   PMID:31343991   PMID:31353312   PMID:31462741   PMID:31527615   PMID:31586073   PMID:31671891   PMID:31732153   PMID:31980649  
PMID:32296183   PMID:32694731   PMID:32780723   PMID:33277362   PMID:33845483   PMID:33859415   PMID:33961781   PMID:34032851   PMID:34079125   PMID:34316702   PMID:34373451   PMID:34591612  
PMID:34709727   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35563538   PMID:35676659   PMID:35748872   PMID:35831314   PMID:36244648   PMID:36398662   PMID:36412210   PMID:36634849  
PMID:36736316   PMID:37689310   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
AP2S1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381946,838,167 - 46,850,846 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1946,838,136 - 46,850,846 (-)EnsemblGRCh38hg38GRCh38
GRCh371947,341,424 - 47,354,103 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361952,033,263 - 52,046,043 (-)NCBINCBI36Build 36hg18NCBI36
Build 341952,033,263 - 52,045,931NCBI
Celera1944,145,679 - 44,158,458 (-)NCBICelera
Cytogenetic Map19q13.32NCBI
HuRef1943,766,567 - 43,779,262 (-)NCBIHuRef
CHM1_11947,343,326 - 47,356,098 (-)NCBICHM1_1
T2T-CHM13v2.01949,664,001 - 49,676,674 (-)NCBIT2T-CHM13v2.0
Ap2s1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39716,472,369 - 16,483,215 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl716,472,335 - 16,483,219 (+)EnsemblGRCm39 Ensembl
GRCm38716,738,444 - 16,749,290 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl716,738,410 - 16,749,294 (+)EnsemblGRCm38mm10GRCm38
MGSCv37717,323,793 - 17,334,639 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36715,896,984 - 15,907,814 (+)NCBIMGSCv36mm8
Celera713,936,944 - 13,947,790 (+)NCBICelera
Cytogenetic Map7A2NCBI
cM Map79.15NCBI
Ap2s1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8186,545,601 - 86,557,007 (+)NCBIGRCr8
mRatBN7.2177,417,496 - 77,428,903 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl177,417,477 - 77,428,905 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx182,798,123 - 82,809,563 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0191,362,165 - 91,373,606 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0184,553,217 - 84,564,655 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0178,671,238 - 78,682,847 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl178,671,121 - 78,682,871 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0179,918,162 - 79,929,502 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4177,069,144 - 77,081,190 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1177,147,255 - 77,159,301NCBI
Celera171,902,755 - 71,914,240 (+)NCBICelera
Cytogenetic Map1q21NCBI
Ap2s1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955574830,910 - 846,161 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955574835,272 - 845,710 (-)NCBIChiLan1.0ChiLan1.0
AP2S1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22052,985,343 - 52,998,184 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11954,856,517 - 54,869,298 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01943,827,907 - 43,840,682 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11952,357,145 - 52,357,805 (-)NCBIpanpan1.1PanPan1.1panPan2
AP2S1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11109,094,098 - 109,105,233 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1109,082,221 - 109,105,230 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1108,573,732 - 108,584,870 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01109,619,436 - 109,630,605 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1109,619,492 - 109,630,604 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11109,297,177 - 109,308,314 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01108,930,932 - 108,942,072 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01109,799,650 - 109,811,014 (+)NCBIUU_Cfam_GSD_1.0
AP2S1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl652,695,640 - 52,703,278 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1652,695,640 - 52,703,263 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2648,066,402 - 48,073,966 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AP2S1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1640,175,106 - 40,194,936 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607319,888,365 - 19,901,238 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ap2s1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248326,787,149 - 6,797,131 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248326,788,149 - 6,797,026 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AP2S1
101 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys) single nucleotide variant Familial hypocalciuric hypercalcemia 3 [RCV000032619]|not provided [RCV001228882] Chr19:46846103 [GRCh38]
Chr19:47349360 [GRCh37]
Chr19:19q13.32		 pathogenic
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu) single nucleotide variant AP2S1-related condition [RCV003904882]|Familial hypocalciuric hypercalcemia 3 [RCV000032620]|not provided [RCV001220777] Chr19:46846102 [GRCh38]
Chr19:47349359 [GRCh37]
Chr19:19q13.32		 pathogenic
NM_004069.6(AP2S1):c.44G>A (p.Arg15His) single nucleotide variant Familial hypocalciuric hypercalcemia 3 [RCV000032621]|not provided [RCV000520417] Chr19:46846102 [GRCh38]
Chr19:47349359 [GRCh37]
Chr19:19q13.32		 pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33		 pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1 copy number loss See cases [RCV000053976] Chr19:46458122..47683579 [GRCh38]
Chr19:46961379..48186836 [GRCh37]
Chr19:51653219..52878648 [NCBI36]
Chr19:19q13.32-13.33		 pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 copy number gain See cases [RCV000136578] Chr19:44971420..48257402 [GRCh38]
Chr19:45474677..48760659 [GRCh37]
Chr19:50166517..53452471 [NCBI36]
Chr19:19q13.32-13.33		 pathogenic
NM_004069.6(AP2S1):c.267+5G>A single nucleotide variant not provided [RCV001514793]|not specified [RCV000241766] Chr19:46839460 [GRCh38]
Chr19:47342717 [GRCh37]
Chr19:19q13.32		 benign
GRCh37/hg19 19q13.32(chr19:47228251-47867279)x3 copy number gain not provided [RCV000585171] Chr19:47228251..47867279 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.302T>C (p.Leu101Pro) single nucleotide variant not provided [RCV000523584] Chr19:46838765 [GRCh38]
Chr19:47342022 [GRCh37]
Chr19:19q13.32		 uncertain significance
GRCh37/hg19 19q13.32(chr19:46918881-47782258)x3 copy number gain See cases [RCV000446734] Chr19:46918881..47782258 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.179G>A (p.Arg60His) single nucleotide variant not provided [RCV000435863] Chr19:46839553 [GRCh38]
Chr19:47342810 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.28C>T (p.Arg10Trp) single nucleotide variant AP2S1-related condition [RCV003409662]|Familial hypocalciuric hypercalcemia 3 [RCV001332374]|Neurodevelopmental disorder [RCV001374920]|not provided [RCV000485645] Chr19:46846118 [GRCh38]
Chr19:47349375 [GRCh37]
Chr19:19q13.32		 likely pathogenic|uncertain significance
GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1 copy number loss See cases [RCV000511362] Chr19:46404248..48488721 [GRCh37]
Chr19:19q13.32-13.33		 likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_004069.6(AP2S1):c.154-265dup duplication not provided [RCV001609557] Chr19:46839841..46839842 [GRCh38]
Chr19:47343098..47343099 [GRCh37]
Chr19:19q13.32		 benign
NM_004069.6(AP2S1):c.181C>T (p.Arg61Cys) single nucleotide variant not provided [RCV001585055] Chr19:46839551 [GRCh38]
Chr19:47342808 [GRCh37]
Chr19:19q13.32		 uncertain significance
GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536) copy number gain not provided [RCV000767770] Chr19:47036361..48525536 [GRCh37]
Chr19:19q13.32-13.33		 pathogenic
GRCh37/hg19 19q13.32(chr19:47313394-47446351)x3 copy number gain not provided [RCV000847659] Chr19:47313394..47446351 [GRCh37]
Chr19:19q13.32		 uncertain significance
GRCh37/hg19 19q13.32-13.33(chr19:47331662-48234260)x3 copy number gain not provided [RCV001007053] Chr19:47331662..48234260 [GRCh37]
Chr19:19q13.32-13.33		 uncertain significance
GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3 copy number gain not provided [RCV001007051] Chr19:45531056..48174177 [GRCh37]
Chr19:19q13.32-13.33		 uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409) copy number gain Coffin-Siris syndrome 12 [RCV003232036] Chr19:47028919..48185409 [GRCh37]
Chr19:19q13.32-13.33		 likely pathogenic
NM_004069.6(AP2S1):c.267+37T>G single nucleotide variant not provided [RCV001550831]|not specified [RCV003321852] Chr19:46839428 [GRCh38]
Chr19:47342685 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.*210C>T single nucleotide variant not provided [RCV001690375] Chr19:46838237 [GRCh38]
Chr19:47341494 [GRCh37]
Chr19:19q13.32		 benign
NM_004069.6(AP2S1):c.4-300del deletion not provided [RCV001688222] Chr19:46846442 [GRCh38]
Chr19:47349699 [GRCh37]
Chr19:19q13.32		 benign
NM_004069.6(AP2S1):c.267+33C>G single nucleotide variant not provided [RCV001550662] Chr19:46839432 [GRCh38]
Chr19:47342689 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.154-94C>T single nucleotide variant not provided [RCV001619661] Chr19:46839672 [GRCh38]
Chr19:47342929 [GRCh37]
Chr19:19q13.32		 benign
NM_004069.6(AP2S1):c.267+30A>G single nucleotide variant not provided [RCV001577573] Chr19:46839435 [GRCh38]
Chr19:47342692 [GRCh37]
Chr19:19q13.32		 likely benign
NC_000019.10:g.46838160C>T single nucleotide variant not provided [RCV001557331] Chr19:46838160 [GRCh38]
Chr19:47341417 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.328-79G>T single nucleotide variant not provided [RCV001562778] Chr19:46838627 [GRCh38]
Chr19:47341884 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.267+309C>T single nucleotide variant not provided [RCV001545017] Chr19:46839156 [GRCh38]
Chr19:47342413 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.328-22C>T single nucleotide variant not provided [RCV001577400]|not specified [RCV002268525] Chr19:46838570 [GRCh38]
Chr19:47341827 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.154-32T>G single nucleotide variant Familial hypocalciuric hypercalcemia 3 [RCV001554014]|not provided [RCV001598696] Chr19:46839610 [GRCh38]
Chr19:47342867 [GRCh37]
Chr19:19q13.32		 benign
NM_004069.6(AP2S1):c.268-183T>A single nucleotide variant not provided [RCV001710581] Chr19:46838982 [GRCh38]
Chr19:47342239 [GRCh37]
Chr19:19q13.32		 benign
NM_004069.6(AP2S1):c.268-264C>G single nucleotide variant not provided [RCV001683837] Chr19:46839063 [GRCh38]
Chr19:47342320 [GRCh37]
Chr19:19q13.32		 benign
NM_004069.6(AP2S1):c.154-244G>T single nucleotide variant not provided [RCV001612119] Chr19:46839822 [GRCh38]
Chr19:47343079 [GRCh37]
Chr19:19q13.32		 benign
NM_004069.6(AP2S1):c.154-251_154-248del deletion not provided [RCV001652104] Chr19:46839826..46839829 [GRCh38]
Chr19:47343083..47343086 [GRCh37]
Chr19:19q13.32		 benign
NM_004069.6(AP2S1):c.*70G>A single nucleotide variant not provided [RCV001585543] Chr19:46838377 [GRCh38]
Chr19:47341634 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.267+4C>G single nucleotide variant not provided [RCV001295271] Chr19:46839461 [GRCh38]
Chr19:47342718 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.267+7C>T single nucleotide variant not provided [RCV001295391] Chr19:46839458 [GRCh38]
Chr19:47342715 [GRCh37]
Chr19:19q13.32		 likely benign|uncertain significance
NM_004069.6(AP2S1):c.42G>A (p.Thr14=) single nucleotide variant not provided [RCV001395095] Chr19:46846104 [GRCh38]
Chr19:47349361 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.3+108G>T single nucleotide variant not provided [RCV001786884] Chr19:46850656 [GRCh38]
Chr19:47353913 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.241C>T (p.Leu81=) single nucleotide variant not provided [RCV001415047] Chr19:46839491 [GRCh38]
Chr19:47342748 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.327+8C>T single nucleotide variant AP2S1-related condition [RCV003965966]|not provided [RCV001478827]|not specified [RCV002268491] Chr19:46838732 [GRCh38]
Chr19:47341989 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.15C>T (p.Ile5=) single nucleotide variant not provided [RCV001468065] Chr19:46846131 [GRCh38]
Chr19:47349388 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.336G>A (p.Thr112=) single nucleotide variant not provided [RCV001488585] Chr19:46838540 [GRCh38]
Chr19:47341797 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.9C>G (p.Arg3=) single nucleotide variant not provided [RCV001457174] Chr19:46846137 [GRCh38]
Chr19:47349394 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.261C>T (p.Phe87=) single nucleotide variant Familial hypocalciuric hypercalcemia 3 [RCV002495813]|not provided [RCV001517560] Chr19:46839471 [GRCh38]
Chr19:47342728 [GRCh37]
Chr19:19q13.32		 benign|likely benign
NM_004069.6(AP2S1):c.4-5C>T single nucleotide variant not provided [RCV001454842] Chr19:46846147 [GRCh38]
Chr19:47349404 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.153+6G>A single nucleotide variant not provided [RCV001489637] Chr19:46845987 [GRCh38]
Chr19:47349244 [GRCh37]
Chr19:19q13.32		 likely benign|conflicting interpretations of pathogenicity
NM_004069.6(AP2S1):c.66G>C (p.Gln22His) single nucleotide variant not provided [RCV001870616] Chr19:46846080 [GRCh38]
Chr19:47349337 [GRCh37]
Chr19:19q13.32		 uncertain significance
NC_000019.10:g.46851199del deletion not provided [RCV002251641] Chr19:46851198 [GRCh38]
Chr19:47354455 [GRCh37]
Chr19:19q13.32		 likely benign
GRCh37/hg19 19q13.32(chr19:46918881-47782258) copy number gain not specified [RCV002052687] Chr19:46918881..47782258 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.125G>A (p.Arg42Gln) single nucleotide variant not provided [RCV001909473] Chr19:46846021 [GRCh38]
Chr19:47349278 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.334A>T (p.Thr112Ser) single nucleotide variant not provided [RCV001978677] Chr19:46838542 [GRCh38]
Chr19:47341799 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.267+4C>T single nucleotide variant not provided [RCV001932881] Chr19:46839461 [GRCh38]
Chr19:47342718 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.153+5C>T single nucleotide variant Familial hypocalciuric hypercalcemia 3 [RCV002482747]|not provided [RCV001885023] Chr19:46845988 [GRCh38]
Chr19:47349245 [GRCh37]
Chr19:19q13.32		 uncertain significance
NC_000019.9:g.(?_47341704)_(47354023_?)dup duplication not provided [RCV001996765] Chr19:47341704..47354023 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.205A>G (p.Ile69Val) single nucleotide variant not provided [RCV001934208] Chr19:46839527 [GRCh38]
Chr19:47342784 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.363C>T (p.Gly121=) single nucleotide variant not provided [RCV002012038] Chr19:46838513 [GRCh38]
Chr19:47341770 [GRCh37]
Chr19:19q13.32		 likely benign|uncertain significance
NM_004069.6(AP2S1):c.3+20C>A single nucleotide variant not provided [RCV002089212] Chr19:46850744 [GRCh38]
Chr19:47354001 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.328-10C>T single nucleotide variant not provided [RCV002088614] Chr19:46838558 [GRCh38]
Chr19:47341815 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.42G>T (p.Thr14=) single nucleotide variant not provided [RCV002145734] Chr19:46846104 [GRCh38]
Chr19:47349361 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.105G>A (p.Val35=) single nucleotide variant not provided [RCV002095599] Chr19:46846041 [GRCh38]
Chr19:47349298 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.387G>A (p.Thr129=) single nucleotide variant Familial hypocalciuric hypercalcemia 3 [RCV002500432]|not provided [RCV002196361] Chr19:46838489 [GRCh38]
Chr19:47341746 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.3+20C>T single nucleotide variant not provided [RCV002117340] Chr19:46850744 [GRCh38]
Chr19:47354001 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.267+8G>A single nucleotide variant not provided [RCV002170980] Chr19:46839457 [GRCh38]
Chr19:47342714 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.4-14_4-12del microsatellite Familial hypocalciuric hypercalcemia 3 [RCV002500040]|not provided [RCV002132368] Chr19:46846154..46846156 [GRCh38]
Chr19:47349411..47349413 [GRCh37]
Chr19:19q13.32		 benign|likely benign
NM_004069.6(AP2S1):c.153+13C>T single nucleotide variant not provided [RCV002212870] Chr19:46845980 [GRCh38]
Chr19:47349237 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.111C>T (p.Ala37=) single nucleotide variant Familial hypocalciuric hypercalcemia 3 [RCV002505840]|not provided [RCV002164065] Chr19:46846035 [GRCh38]
Chr19:47349292 [GRCh37]
Chr19:19q13.32		 benign|likely benign
NM_004069.6(AP2S1):c.153+17G>A single nucleotide variant not provided [RCV002101317] Chr19:46845976 [GRCh38]
Chr19:47349233 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.4-7C>T single nucleotide variant not provided [RCV002083389] Chr19:46846149 [GRCh38]
Chr19:47349406 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.72T>C (p.Asp24=) single nucleotide variant not provided [RCV002201183] Chr19:46846074 [GRCh38]
Chr19:47349331 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.75T>C (p.Asp25=) single nucleotide variant Familial hypocalciuric hypercalcemia 3 [RCV002499999]|not provided [RCV002117530] Chr19:46846071 [GRCh38]
Chr19:47349328 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.268-8T>G single nucleotide variant not provided [RCV002219979] Chr19:46838807 [GRCh38]
Chr19:47342064 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.328-11C>T single nucleotide variant not provided [RCV003117016] Chr19:46838559 [GRCh38]
Chr19:47341816 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.3+11A>G single nucleotide variant not provided [RCV003117046] Chr19:46850753 [GRCh38]
Chr19:47354010 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.267+19G>A single nucleotide variant not provided [RCV003105419] Chr19:46839446 [GRCh38]
Chr19:47342703 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.328-30C>T single nucleotide variant not specified [RCV002269122] Chr19:46838578 [GRCh38]
Chr19:47341835 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.327+48G>A single nucleotide variant not specified [RCV002269123] Chr19:46838692 [GRCh38]
Chr19:47341949 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.154-29C>T single nucleotide variant not specified [RCV002269125] Chr19:46839607 [GRCh38]
Chr19:47342864 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.267+31G>A single nucleotide variant not provided [RCV002286118]|not specified [RCV003321919] Chr19:46839434 [GRCh38]
Chr19:47342691 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.268-26T>G single nucleotide variant not specified [RCV002269124] Chr19:46838825 [GRCh38]
Chr19:47342082 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.3+41del deletion not specified [RCV002269126] Chr19:46850723 [GRCh38]
Chr19:47353980 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.124C>G (p.Arg42Gly) single nucleotide variant not provided [RCV002288109] Chr19:46846022 [GRCh38]
Chr19:47349279 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.4-8G>T single nucleotide variant not provided [RCV002726517] Chr19:46846150 [GRCh38]
Chr19:47349407 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.153+9C>T single nucleotide variant not provided [RCV002615561] Chr19:46845984 [GRCh38]
Chr19:47349241 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.129C>T (p.Asp43=) single nucleotide variant not provided [RCV003097500] Chr19:46846017 [GRCh38]
Chr19:47349274 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.344A>G (p.Asp115Gly) single nucleotide variant Inborn genetic diseases [RCV002708165] Chr19:46838532 [GRCh38]
Chr19:47341789 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.48G>A (p.Leu16=) single nucleotide variant not provided [RCV002569612] Chr19:46846098 [GRCh38]
Chr19:47349355 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.276C>T (p.Asn92=) single nucleotide variant not provided [RCV002592427] Chr19:46838791 [GRCh38]
Chr19:47342048 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.154-19C>T single nucleotide variant not provided [RCV002667146] Chr19:46839597 [GRCh38]
Chr19:47342854 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.29G>A (p.Arg10Gln) single nucleotide variant not provided [RCV002508421] Chr19:46846117 [GRCh38]
Chr19:47349374 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.327+5G>A single nucleotide variant not provided [RCV003044948] Chr19:46838735 [GRCh38]
Chr19:47341992 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.294C>T (p.Val98=) single nucleotide variant not provided [RCV003088677] Chr19:46838773 [GRCh38]
Chr19:47342030 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.30G>A (p.Arg10=) single nucleotide variant not provided [RCV002579105] Chr19:46846116 [GRCh38]
Chr19:47349373 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.3+14G>T single nucleotide variant not provided [RCV003032197] Chr19:46850750 [GRCh38]
Chr19:47354007 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.364G>A (p.Glu122Lys) single nucleotide variant not provided [RCV002584865] Chr19:46838512 [GRCh38]
Chr19:47341769 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.335C>T (p.Thr112Met) single nucleotide variant not provided [RCV003071995] Chr19:46838541 [GRCh38]
Chr19:47341798 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.130G>A (p.Ala44Thr) single nucleotide variant not provided [RCV002588037] Chr19:46846016 [GRCh38]
Chr19:47349273 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.328-29_328-9dup duplication not provided [RCV003093114] Chr19:46838556..46838557 [GRCh38]
Chr19:47341813..47341814 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.182G>A (p.Arg61His) single nucleotide variant not provided [RCV003229304] Chr19:46839550 [GRCh38]
Chr19:47342807 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.3+41dup duplication not provided [RCV003221593]|not specified [RCV003321983] Chr19:46850722..46850723 [GRCh38]
Chr19:47353979..47353980 [GRCh37]
Chr19:19q13.32		 benign|likely benign
NM_004069.6(AP2S1):c.4-49C>T single nucleotide variant not specified [RCV003322398] Chr19:46846191 [GRCh38]
Chr19:47349448 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.250A>G (p.Ile84Val) single nucleotide variant Inborn genetic diseases [RCV003366905] Chr19:46839482 [GRCh38]
Chr19:47342739 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.297T>C (p.Cys99=) single nucleotide variant not provided [RCV003873351] Chr19:46838770 [GRCh38]
Chr19:47342027 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.120C>T (p.Thr40=) single nucleotide variant not provided [RCV003415333] Chr19:46846026 [GRCh38]
Chr19:47349283 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.159G>C (p.Arg53=) single nucleotide variant not provided [RCV003693029] Chr19:46839573 [GRCh38]
Chr19:47342830 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.209G>A (p.Cys70Tyr) single nucleotide variant not provided [RCV003690149] Chr19:46839523 [GRCh38]
Chr19:47342780 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.18C>T (p.Leu6=) single nucleotide variant not provided [RCV003547686] Chr19:46846128 [GRCh38]
Chr19:47349385 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.285C>T (p.Phe95=) single nucleotide variant not provided [RCV003693145] Chr19:46838782 [GRCh38]
Chr19:47342039 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.4-20T>A single nucleotide variant not provided [RCV003703660] Chr19:46846162 [GRCh38]
Chr19:47349419 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.357G>A (p.Leu119=) single nucleotide variant not provided [RCV003717062] Chr19:46838519 [GRCh38]
Chr19:47341776 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.165T>C (p.Phe55=) single nucleotide variant not provided [RCV003853569] Chr19:46839567 [GRCh38]
Chr19:47342824 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.360T>G (p.Ala120=) single nucleotide variant not provided [RCV003859299] Chr19:46838516 [GRCh38]
Chr19:47341773 [GRCh37]
Chr19:19q13.32		 likely benign
GRCh37/hg19 19q13.32(chr19:47185918-47435756)x3 copy number gain not specified [RCV003986114] Chr19:47185918..47435756 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.186T>C (p.Tyr62=) single nucleotide variant not provided [RCV003711206] Chr19:46839546 [GRCh38]
Chr19:47342803 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.268-6T>C single nucleotide variant not provided [RCV003720087] Chr19:46838805 [GRCh38]
Chr19:47342062 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.386C>T (p.Thr129Met) single nucleotide variant not provided [RCV003732791] Chr19:46838490 [GRCh38]
Chr19:47341747 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.96C>T (p.Ile32=) single nucleotide variant not provided [RCV003720076] Chr19:46846050 [GRCh38]
Chr19:47349307 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.328-3C>T single nucleotide variant not provided [RCV003870812] Chr19:46838551 [GRCh38]
Chr19:47341808 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.4-13del deletion not provided [RCV003733656] Chr19:46846155 [GRCh38]
Chr19:47349412 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.153+14C>T single nucleotide variant not provided [RCV003733687] Chr19:46845979 [GRCh38]
Chr19:47349236 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.236C>T (p.Ala79Val) single nucleotide variant not provided [RCV003859211] Chr19:46839496 [GRCh38]
Chr19:47342753 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_004069.6(AP2S1):c.303G>A (p.Leu101=) single nucleotide variant not provided [RCV003710581] Chr19:46838764 [GRCh38]
Chr19:47342021 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.3+13C>G single nucleotide variant not provided [RCV003842302] Chr19:46850751 [GRCh38]
Chr19:47354008 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.189T>C (p.Ala63=) single nucleotide variant AP2S1-related condition [RCV003896275] Chr19:46839543 [GRCh38]
Chr19:47342800 [GRCh37]
Chr19:19q13.32		 likely benign
NM_004069.6(AP2S1):c.3+638G>A single nucleotide variant AP2S1-related condition [RCV003962220] Chr19:46850126 [GRCh38]
Chr19:47353383 [GRCh37]
Chr19:19q13.32		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3484
Count of miRNA genes:677
Interacting mature miRNAs:768
Transcripts:ENST00000263270, ENST00000352203, ENST00000593442, ENST00000597020, ENST00000597421, ENST00000598027, ENST00000599990, ENST00000600964, ENST00000601498, ENST00000601649
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
STS-X97074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371947,341,463 - 47,341,665UniSTSGRCh37
Build 361952,033,303 - 52,033,505RGDNCBI36
Celera1944,145,719 - 44,145,921RGD
Cytogenetic Map19q13.2-q13.3UniSTS
HuRef1943,766,607 - 43,766,809UniSTS
GeneMap99-GB4 RH Map19254.56UniSTS
RH80522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371947,341,440 - 47,341,728UniSTSGRCh37
Build 361952,033,280 - 52,033,568RGDNCBI36
Celera1944,145,696 - 44,145,984RGD
Cytogenetic Map19q13.2-q13.3UniSTS
HuRef1943,766,584 - 43,766,872UniSTS
GeneMap99-GB4 RH Map19254.67UniSTS
G62010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371947,341,433 - 47,341,571UniSTSGRCh37
Build 361952,033,273 - 52,033,411RGDNCBI36
Celera1944,145,689 - 44,145,827RGD
Cytogenetic Map19q13.2-q13.3UniSTS
HuRef1943,766,577 - 43,766,715UniSTS
RH47043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371947,341,498 - 47,341,620UniSTSGRCh37
Build 361952,033,338 - 52,033,460RGDNCBI36
Celera1944,145,754 - 44,145,876RGD
Cytogenetic Map19q13.2-q13.3UniSTS
HuRef1943,766,642 - 43,766,764UniSTS
GeneMap99-GB4 RH Map19254.67UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 3
Medium 2432 2947 1723 622 1946 464 4355 2157 3704 416 1445 1608 171 1204 2788 5
Low 7 44 3 2 5 1 1 40 30 3 12 5 4 1 1 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI139089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ713543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF970609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG282225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI561502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ221562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ684675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU564736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA454481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB108423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB472500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H46780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263270   ⟹   ENSP00000263270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,838,167 - 46,850,846 (-)Ensembl
RefSeq Acc Id: ENST00000352203   ⟹   ENSP00000263271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,838,136 - 46,850,777 (-)Ensembl
RefSeq Acc Id: ENST00000593442   ⟹   ENSP00000472080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,838,158 - 46,850,834 (-)Ensembl
RefSeq Acc Id: ENST00000597020   ⟹   ENSP00000470235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,838,172 - 46,846,148 (-)Ensembl
RefSeq Acc Id: ENST00000597421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,845,651 - 46,850,825 (-)Ensembl
RefSeq Acc Id: ENST00000598027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,838,446 - 46,839,656 (-)Ensembl
RefSeq Acc Id: ENST00000599990   ⟹   ENSP00000471340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,838,158 - 46,850,769 (-)Ensembl
RefSeq Acc Id: ENST00000600964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,838,172 - 46,838,820 (-)Ensembl
RefSeq Acc Id: ENST00000601498   ⟹   ENSP00000470176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,838,158 - 46,850,316 (-)Ensembl
RefSeq Acc Id: ENST00000601649   ⟹   ENSP00000470898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,838,447 - 46,850,766 (-)Ensembl
RefSeq Acc Id: NM_001301076   ⟹   NP_001288005
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,838,167 - 46,850,314 (-)NCBI
CHM1_11947,343,318 - 47,355,442 (-)NCBI
T2T-CHM13v2.01949,664,001 - 49,676,142 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001301078   ⟹   NP_001288007
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,838,167 - 46,850,846 (-)NCBI
CHM1_11947,343,318 - 47,356,147 (-)NCBI
T2T-CHM13v2.01949,664,001 - 49,676,674 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001301081   ⟹   NP_001288010
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,838,167 - 46,850,846 (-)NCBI
CHM1_11947,343,318 - 47,355,921 (-)NCBI
T2T-CHM13v2.01949,664,001 - 49,676,674 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004069   ⟹   NP_004060
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,838,167 - 46,850,846 (-)NCBI
GRCh371947,341,423 - 47,354,203 (-)ENTREZGENE
GRCh371947,341,423 - 47,354,203 (-)NCBI
Build 361952,033,263 - 52,046,043 (-)NCBI Archive
HuRef1943,766,567 - 43,779,262 (-)ENTREZGENE
CHM1_11947,343,318 - 47,356,147 (-)NCBI
T2T-CHM13v2.01949,664,001 - 49,676,674 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021575   ⟹   NP_067586
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,838,167 - 46,850,846 (-)NCBI
GRCh371947,341,423 - 47,354,203 (-)ENTREZGENE
GRCh371947,341,423 - 47,354,203 (-)NCBI
Build 361952,033,263 - 52,046,043 (-)NCBI Archive
HuRef1943,766,567 - 43,779,262 (-)ENTREZGENE
CHM1_11947,343,318 - 47,356,147 (-)NCBI
T2T-CHM13v2.01949,664,001 - 49,676,674 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526423   ⟹   XP_011524725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,838,167 - 46,850,846 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526424   ⟹   XP_011524726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,838,167 - 46,850,846 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054319732   ⟹   XP_054175707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01949,664,001 - 49,676,674 (-)NCBI
RefSeq Acc Id: XM_054319733   ⟹   XP_054175708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01949,664,001 - 49,676,674 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_067586   ⟸   NM_021575
- Peptide Label: isoform AP17delta
- UniProtKB: P53680 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004060   ⟸   NM_004069
- Peptide Label: isoform AP17
- UniProtKB: O75977 (UniProtKB/Swiss-Prot),   B2R4Z4 (UniProtKB/Swiss-Prot),   Q6PK67 (UniProtKB/Swiss-Prot),   P53680 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288007   ⟸   NM_001301078
- Peptide Label: isoform 4
- UniProtKB: X6R390 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001288010   ⟸   NM_001301081
- Peptide Label: isoform 5
- UniProtKB: M0R0N4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001288005   ⟸   NM_001301076
- Peptide Label: isoform 3
- UniProtKB: M0QYZ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524726   ⟸   XM_011526424
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011524725   ⟸   XM_011526423
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000470235   ⟸   ENST00000597020
RefSeq Acc Id: ENSP00000471340   ⟸   ENST00000599990
RefSeq Acc Id: ENSP00000470176   ⟸   ENST00000601498
RefSeq Acc Id: ENSP00000470898   ⟸   ENST00000601649
RefSeq Acc Id: ENSP00000263271   ⟸   ENST00000352203
RefSeq Acc Id: ENSP00000263270   ⟸   ENST00000263270
RefSeq Acc Id: ENSP00000472080   ⟸   ENST00000593442
RefSeq Acc Id: XP_054175708   ⟸   XM_054319733
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054175707   ⟸   XM_054319732
- Peptide Label: isoform X1
Protein Domains
AP complex mu/sigma subunit

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P53680-F1-model_v2 AlphaFold P53680 1-142 view protein structure

Promoters
RGD ID:13204775
Promoter ID:EPDNEW_H26006
Type:initiation region
Name:AP2S1_3
Description:adaptor related protein complex 2 sigma 1 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26007  EPDNEW_H26009  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,846,149 - 46,846,209EPDNEW
RGD ID:13204773
Promoter ID:EPDNEW_H26007
Type:initiation region
Name:AP2S1_1
Description:adaptor related protein complex 2 sigma 1 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26006  EPDNEW_H26009  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,850,844 - 46,850,904EPDNEW
RGD ID:13204779
Promoter ID:EPDNEW_H26009
Type:initiation region
Name:AP2S1_2
Description:adaptor related protein complex 2 sigma 1 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26007  EPDNEW_H26006  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,860,798 - 46,860,858EPDNEW
RGD ID:6795139
Promoter ID:HG_KWN:30365
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004069,   NM_021575
Position:
Human AssemblyChrPosition (strand)Source
Build 361952,045,651 - 52,046,151 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:565 AgrOrtholog
COSMIC AP2S1 COSMIC
Ensembl Genes ENSG00000042753 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000263270 ENTREZGENE
  ENST00000263270.11 UniProtKB/Swiss-Prot
  ENST00000352203 ENTREZGENE
  ENST00000352203.8 UniProtKB/TrEMBL
  ENST00000593442.5 UniProtKB/TrEMBL
  ENST00000597020.5 UniProtKB/TrEMBL
  ENST00000599990 ENTREZGENE
  ENST00000599990.5 UniProtKB/TrEMBL
  ENST00000601498 ENTREZGENE
  ENST00000601498.5 UniProtKB/TrEMBL
  ENST00000601649 ENTREZGENE
  ENST00000601649.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.450.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000042753 GTEx
HGNC ID HGNC:565 ENTREZGENE
Human Proteome Map AP2S1 Human Proteome Map
InterPro AP_complex_ssu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AP_mu_sigma_su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APS2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clathrin_sm-chain_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Longin-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1175 UniProtKB/Swiss-Prot
NCBI Gene 1175 ENTREZGENE
OMIM 602242 OMIM
PANTHER PTHR11753 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11753:SF6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Clat_adaptor_s UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24856 PharmGKB
PIRSF AP_complex_sigma UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CLAT_ADAPTOR_S UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF64356 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AP2S1_HUMAN UniProtKB/Swiss-Prot
  B2R4Z4 ENTREZGENE
  M0QYZ2 ENTREZGENE, UniProtKB/TrEMBL
  M0QZ21_HUMAN UniProtKB/TrEMBL
  M0R0N4 ENTREZGENE, UniProtKB/TrEMBL
  M0R1S0_HUMAN UniProtKB/TrEMBL
  O75977 ENTREZGENE
  P53680 ENTREZGENE
  Q6PK67 ENTREZGENE
  X6R390 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R4Z4 UniProtKB/Swiss-Prot
  O75977 UniProtKB/Swiss-Prot
  Q6PK67 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 AP2S1  adaptor related protein complex 2 subunit sigma 1  AP2S1  adaptor related protein complex 2 sigma 1 subunit  Symbol and/or name change 5135510 APPROVED
2016-04-05 AP2S1  adaptor related protein complex 2 sigma 1 subunit  HHC3  hypocalciuric hypercalcemia 3 (Oklahoma type)  Data merged from RGD:1343441 737654 PROVISIONAL
2015-12-22 AP2S1  adaptor related protein complex 2 sigma 1 subunit  AP2S1  adaptor-related protein complex 2 sigma 1 subunit  Symbol and/or name change 5135510 APPROVED
2015-11-10 AP2S1  adaptor-related protein complex 2 sigma 1 subunit  AP2S1  adaptor-related protein complex 2, sigma 1 subunit  Symbol and/or name change 5135510 APPROVED