AP2S1 Gene (Protein Coding)

Adaptor Related Protein Complex 2 Subunit Sigma 1

GC19M046838
GIFtS:
43
One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] See more...

Aliases for AP2S1 Gene

Aliases for AP2S1 Gene

  • Adaptor Related Protein Complex 2 Subunit Sigma 1 2 3 5
  • Adaptor Related Protein Complex 2 Sigma 1 Subunit 2 3
  • Clathrin Assembly Protein 2 Sigma Small Chain 3 4
  • Plasma Membrane Adaptor AP-2 17 KDa Protein 3 4
  • Adaptor Protein Complex AP-2 Subunit Sigma 3 4
  • Clathrin Coat-Associated Protein AP17 3 4
  • Clathrin Coat Assembly Protein AP17 3 4
  • AP-2 Complex Subunit Sigma 3 4
  • HA2 17 KDa Subunit 3 4
  • Sigma2-Adaptin 3 4
  • Sigma-2 2 3
  • CLAPS2 3 4
  • FBHOk 2 3
  • AP17 3 4
  • FBH3 2 3
  • Clathrin-Associated/Assembly/Adaptor Protein, Small 2 (17kD) 3
  • Adaptor-Related Protein Complex 2 Subunit Sigma 4
  • Hypocalciuric Hypercalcemia 3 (Oklahoma Type) 2
  • AP2S1 5
  • HHC3 3

External Ids for AP2S1 Gene

Previous HGNC Symbols for AP2S1 Gene

  • CLAPS2
  • HHC3

Previous GeneCards Identifiers for AP2S1 Gene

  • GC19M047985
  • GC19M047732
  • GC19M052017
  • GC19M052033
  • GC19M047341
  • GC19M043766

Summaries for AP2S1 Gene

Entrez Gene Summary for AP2S1 Gene

  • One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for AP2S1 Gene

AP2S1 (Adaptor Related Protein Complex 2 Subunit Sigma 1) is a Protein Coding gene. Diseases associated with AP2S1 include Hypocalciuric Hypercalcemia, Familial, Type Iii and Familial Hypocalciuric Hypercalcemia. Among its related pathways are Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity and Endocytic Trafficking of EGFR. Gene Ontology (GO) annotations related to this gene include transporter activity and clathrin adaptor activity. An important paralog of this gene is AP1S2.

UniProtKB/Swiss-Prot Summary for AP2S1 Gene

  • Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein Transport via Transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity). May also play a role in extracellular calcium homeostasis.

Gene Wiki entry for AP2S1 Gene

Additional gene information for AP2S1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AP2S1 Gene

Genomics for AP2S1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AP2S1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AP2S1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AP2S1

Top Transcription factor binding sites by QIAGEN in the AP2S1 gene promoter:
  • CBF(2)
  • CBF-B
  • CBF-C
  • CUTL1
  • ER-alpha
  • POU2F1
  • POU2F1a
  • Sox5

Genomic Locations for AP2S1 Gene

Latest Assembly
chr19:46,838,136-46,850,846
(GRCh38/hg38)
Size:
12,711 bases
Orientation:
Minus strand

Previous Assembly
chr19:47,341,424-47,354,103
(GRCh37/hg19 by Entrez Gene)
Size:
12,680 bases
Orientation:
Minus strand

chr19:47,341,393-47,354,249
(GRCh37/hg19 by Ensembl)
Size:
12,857 bases
Orientation:
Minus strand

Genomic View for AP2S1 Gene

Genes around AP2S1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP2S1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP2S1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AP2S1 Gene

Proteins for AP2S1 Gene

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  3. Assay products for research

  • Protein details for AP2S1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53680-AP2S1_HUMAN
    Recommended name:
    AP-2 complex subunit sigma
    Protein Accession:
    P53680
    Secondary Accessions:
    • B2R4Z4
    • O75977
    • Q6PK67

    Protein attributes for AP2S1 Gene

    Size:
    142 amino acids
    Molecular mass:
    17018 Da
    Quaternary structure:
    • Adaptor protein complex 2 (AP-2) is a heterotetramer composed of two large adaptins (alpha-type subunit AP2A1 or AP2A2 and beta-type subunit AP2B1), a medium adaptin (mu-type subunit AP2M1) and a small adaptin (sigma-type subunit AP2S1).

    Three dimensional structures from OCA and Proteopedia for AP2S1 Gene

    Alternative splice isoforms for AP2S1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP2S1 Gene

Protein Expression for AP2S1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AP2S1 Gene

  • Ubiquitination at Lys18, Lys28, Lys45, Lys130, and Lys133
  • Modification sites at PhosphoSitePlus

Other Protein References for AP2S1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for AP2S1
  • Boster Bio Antibodies for AP2S1

No data available for DME Specific Peptides for AP2S1 Gene

Domains & Families for AP2S1 Gene

Gene Families for AP2S1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for AP2S1 Gene

InterPro:
Blocks:
  • Clathrin adaptor complex, small chain

Suggested Antigen Peptide Sequences for AP2S1 Gene

GenScript: Design optimal peptide antigens:
  • Sigma2-adaptin (AP2S1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P53680

UniProtKB/Swiss-Prot:

AP2S1_HUMAN :
  • Belongs to the adaptor complexes small subunit family.
Family:
  • Belongs to the adaptor complexes small subunit family.
genes like me logo Genes that share domains with AP2S1: view

Function for AP2S1 Gene

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  6. Cell Lines for research

Molecular function for AP2S1 Gene

UniProtKB/Swiss-Prot Function:
Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein Transport via Transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity). May also play a role in extracellular calcium homeostasis.

Phenotypes From GWAS Catalog for AP2S1 Gene

Gene Ontology (GO) - Molecular Function for AP2S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0035615 contributes_to clathrin adaptor activity TAS 12121421
genes like me logo Genes that share ontologies with AP2S1: view
genes like me logo Genes that share phenotypes with AP2S1: view

Human Phenotype Ontology for AP2S1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP2S1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for AP2S1 Gene

Localization for AP2S1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP2S1 Gene

Cell membrane. Membrane, coated pit. Peripheral membrane protein. Cytoplasmic side. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP2S1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
endosome 4
lysosome 4
mitochondrion 3
golgi apparatus 2
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for AP2S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005905 clathrin-coated pit IEA --
GO:0016020 membrane IEA --
GO:0030117 membrane coat IEA --
genes like me logo Genes that share ontologies with AP2S1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AP2S1 Gene

Pathways & Interactions for AP2S1 Gene

genes like me logo Genes that share pathways with AP2S1: view

Pathways by source for AP2S1 Gene

2 BioSystems pathways for AP2S1 Gene
4 GeneGo (Thomson Reuters) pathways for AP2S1 Gene
  • Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
2 Qiagen pathways for AP2S1 Gene
  • CTLA4 Signaling
  • Endocytic Trafficking of EGFR

Gene Ontology (GO) - Biological Process for AP2S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0006897 endocytosis IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IBA 21873635
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
genes like me logo Genes that share ontologies with AP2S1: view

No data available for SIGNOR curated interactions for AP2S1 Gene

Drugs & Compounds for AP2S1 Gene

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No Compound Related Data Available

Transcripts for AP2S1 Gene

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mRNA/cDNA for AP2S1 Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP2S1

Alternative Splicing Database (ASD) splice patterns (SP) for AP2S1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4: - - -
SP5: - -
SP6: - - - - -
SP7: - - - - -
SP8: - - -
SP9:

Relevant External Links for AP2S1 Gene

GeneLoc Exon Structure for
AP2S1

Expression for AP2S1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AP2S1 Gene

mRNA expression in normal human tissues for AP2S1 Gene
mRNA expression by BioGPS for AP2S1 GenemRNA expression by GTEx for AP2S1 Gene

Protein differential expression in normal tissues from HIPED for AP2S1 Gene

This gene is overexpressed in Frontal cortex (7.9), Peripheral blood mononuclear cells (6.1), and Ovary (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AP2S1 Gene



Protein tissue co-expression partners for AP2S1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AP2S1

SOURCE GeneReport for Unigene cluster for AP2S1 Gene:

Hs.119591

Evidence on tissue expression from TISSUES for AP2S1 Gene

  • Kidney(4.5)
  • Liver(4.4)
  • Skin(3.8)
  • Nervous system(3.4)
  • Thyroid gland(2.6)
  • Lung(2.5)
  • Muscle(2.5)
  • Blood(2.2)
  • Intestine(2.1)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AP2S1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with AP2S1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AP2S1 Gene

Orthologs for AP2S1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP2S1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia AP2S1 29 30
  • 99.53 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia AP2S1 29 30
  • 93.9 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia AP2S1 29 30
  • 93.43 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ap2s1 29 16 30
  • 91.55 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ap2s1 29
  • 89.91 (n)
Oppossum
(Monodelphis domestica)
 Mammalia AP2S1 30
  • 47 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves AP2S1 30
  • 92 (a)
 OneToOne
LOC100859555 29
  • 85.32 (n)
Lizard
(Anolis carolinensis)
 Reptilia AP2S1 30
  • 100 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ap2s1 29
  • 83.57 (n)
Str.5120 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.24043 29
Zebrafish
(Danio rerio)
 Actinopterygii ap2s1 29 30
  • 85.68 (n)
 OneToOne
Dr.28390 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.4730 29
Fruit Fly
(Drosophila melanogaster)
 Insecta AP-2&sgr; 31
  • 91 (a)
AP-2sigma 29 30
  • 83.8 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001703 29
  • 82.63 (n)
Worm
(Caenorhabditis elegans)
 Secernentea aps-2 29 30 31
  • 77.7 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AFR370C 29
  • 57.49 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes APS2 29 32
  • 55.32 (n)
APS1 30
  • 37 (a)
 OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0B06545g 29
  • 50 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT1G47830 29
  • 61.74 (n)
Rice
(Oryza sativa)
 Liliopsida Os12g0207300 29
  • 65.73 (n)
Corn
(Zea mays)
 Liliopsida Zm.3174 29
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.9849 30
  • 94 (a)
 OneToOne
Bread mold
(Neurospora crassa)
 Ascomycetes NCU07989 29
  • 63.85 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes aps2 29
  • 56.81 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.7881 29
Species where no ortholog for AP2S1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AP2S1 Gene

ENSEMBL:
Gene Tree for AP2S1 (if available)
TreeFam:
Gene Tree for AP2S1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AP2S1: view image
Alliance of Genome Resources:
Additional Orthologs for AP2S1

Paralogs for AP2S1 Gene

Paralogs for AP2S1 Gene

(8) SIMAP similar genes for AP2S1 Gene using alignment to 5 proteins:

  • AP2S1_HUMAN
  • M0QYZ2_HUMAN
  • M0QZ21_HUMAN
  • M0R0N4_HUMAN
  • M0R1S0_HUMAN
genes like me logo Genes that share paralogs with AP2S1: view

Variants for AP2S1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AP2S1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
999292 Uncertain Significance: not provided 46,839,461(-) G/C
NM_004069.6(AP2S1):c.267+4C>G 		INTRON
999396 Uncertain Significance: not provided 46,839,458(-) G/A
NM_004069.6(AP2S1):c.267+7C>T 		INTRON
rs1057522809 Uncertain Significance: not provided 46,839,553(-) C/T
NM_004069.5(AP2S1):c.179G>A (p.Arg60His) 		MISSENSE_VARIANT,INTRON
rs1064795235 Uncertain Significance: Hypocalciuric hypercalcemia, familial, type III; not provided 46,846,118(-) G/A
NM_004069.5(AP2S1):c.28C>T (p.Arg10Trp) 		MISSENSE
rs1555748483 Uncertain Significance: not provided 46,838,765(-) A/G
NM_004069.5(AP2S1):c.302T>C (p.Leu101Pro) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AP2S1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for AP2S1 Gene

Variant ID Type Subtype PubMed ID
dgv3608n100 CNV gain 25217958
esv3893224 CNV gain 25118596
nsv138519 CNV deletion 16902084
nsv833850 CNV loss 17160897

Variation tolerance for AP2S1 Gene

Residual Variation Intolerance Score: 51.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.03; 0.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AP2S1 Gene

Human Gene Mutation Database (HGMD)
AP2S1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP2S1
Leiden Open Variation Database (LOVD)
AP2S1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP2S1 Gene

Disorders for AP2S1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for AP2S1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search AP2S1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AP2S1_HUMAN
  • Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740]: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. {ECO:0000269 PubMed:23222959, ECO:0000269 PubMed:24081735}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for AP2S1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with AP2S1: view

No data available for Genatlas for AP2S1 Gene

Publications for AP2S1 Gene

  1. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. (PMID: 23222959) Nesbit MA … Thakker RV (Nature genetics 2013) 2 3 4 72
  2. A novel spliced transcript of human CLAPS2 encoding a protein alternative to clathrin adaptor protein AP17. (PMID: 9767099) Holzmann K … Sauermann G (Gene 1998) 2 3 4 22
  3. Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex: cDNA cloning and chromosomal assignment to 19q13.2-->q13.3. (PMID: 9040778) Winterpacht A … Zabel B (Cytogenetics and cell genetics 1996) 2 3 4 22
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Hypertonicity-responsive ubiquitin ligase RNF183 promotes Na, K-ATPase lysosomal degradation through ubiquitination of its β1 subunit. (PMID: 31732153) Okamoto T … Kaneko M (Biochemical and biophysical research communications 2020) 3

ExternalLinks

View latest publications for AP2S1 gene in Mastermind

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