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AP2S1 Gene(Protein Coding)

Adaptor Related Protein Complex 2 Sigma 1 Subunit

GCID:
GC19M046838
GIFtS:
51
Genes Participants
UDN Logo

Aliases for AP2S1 Gene

Aliases for AP2S1 Gene

  • Adaptor Related Protein Complex 2 Sigma 1 Subunit 2 3 5
  • 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
  • HA2 17 KDa Subunit 3 4
  • Sigma2-Adaptin 3 4
  • CLAPS2 3 4
  • AP17 3 4
  • Clathrin-Associated/Assembly/Adaptor Protein, Small 2 (17kD) 3
  • Adaptor-Related Protein Complex 2, Sigma 1 Subunit 2
  • Adaptor-Related Protein Complex 2 Subunit Sigma 4
  • Hypocalciuric Hypercalcemia 3 (Oklahoma Type) 2
  • AP-2 Complex Subunit Sigma 3
  • FBHOk 3
  • FBH3 3
  • 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 Sigma 1 Subunit) is a Protein Coding gene. Diseases associated with AP2S1 include Hypocalciuric Hypercalcemia, Familial, Type Iii and Familial Hypocalciuric Hypercalcemia. Among its related pathways are EPH-Ephrin signaling 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 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 , fRNAdb sequence ontologies and piRNA Summary for AP2S1 Gene

Genomics for AP2S1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for AP2S1 Gene

Promoters and enhancers for AP2S1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19I046848 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 558.1 +1.1 1094 3.3 PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B AP2S1 CCDC61 ZC3H4 BICRA ENSG00000268810 PRKD2 SNORD23 IRF2BP1 STRN4 FKRP
GH19I046949 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.6 -102.1 -102134 7.4 PKNOX1 SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B GC19M046915 AP2S1 ARHGAP35 SAE1 ZC3H4 CCDC9 ENSG00000279948
GH19I046873 Enhancer 1.2 Ensembl ENCODE dbSUPER 18.4 -24.0 -23956 2.4 FOXA2 JUN MAX RAD21 YY1 ZNF316 GATA3 HNF4G NFE2 MAFK AP2S1 ARHGAP35 GC19M046858
GH19I046923 Enhancer 1.3 Ensembl ENCODE dbSUPER 15.9 -75.2 -75244 4.6 PKNOX1 FOXA2 ARNT ARID4B NEUROD1 SIN3A ETS1 PPARG KAT8 NFIL3 AP2S1 TMEM160 SAE1 ARHGAP35 PIR40993 ENSG00000279948 GC19M046915
GH19I046958 Enhancer 1.1 Ensembl ENCODE dbSUPER 17 -108.0 -108011 1.4 MEIS2 SOX13 MAX CEBPG BATF THRB IRF9 RCOR1 NR2F6 RUNX3 AP2S1 ARHGAP35 SAE1 GC19M046915 GC19P046965
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AP2S1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AP2S1 gene promoter:

Genomic Locations for AP2S1 Gene

Genomic Locations for AP2S1 Gene
chr19:46,838,136-46,850,995
(GRCh38/hg38)
Size:
12,860 bases
Orientation:
Minus strand
chr19:47,341,393-47,354,249
(GRCh37/hg19)

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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  • 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).

    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 posLast=1818, posLast=4545, and posLast=133133
  • Modification sites at PhosphoSitePlus

Other Protein References for AP2S1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AP2S1 Gene

Domains & Families for AP2S1 Gene

Gene Families for AP2S1 Gene

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

Protein Domains for AP2S1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AP2S1 Gene

GenScript: Design optimal peptide antigens:

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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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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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.

Gene Ontology (GO) - Molecular Function for AP2S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity NAS 9040778
GO:0005515 protein binding IPI 25416956
GO:0008565 protein transporter activity NAS 10753805
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 Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
lysosome 4
endosome 4
mitochondrion 2
golgi apparatus 2
peroxisome 1
nucleus 1

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

Gene Ontology (GO) - Biological Process for AP2S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006897 endocytosis IEA --
GO:0007018 microtubule-based movement TAS --
GO:0015031 protein transport IEA --
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for AP2S1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for AP2S1 Gene

(7) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(405) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AP2S1 Gene

Adaptor-related protein complex 2, sigma 1 subunit:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
AP2S1

Expression for AP2S1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for AP2S1 Gene
mRNA expression by GTEx for AP2S1 GenemRNA expression by BioGPS 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, PaxDb, MaxQB, and MOPED for AP2S1 Gene



Protein tissue co-expression partners for AP2S1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AP2S1 Gene:

AP2S1

SOURCE GeneReport for Unigene cluster for AP2S1 Gene:

Hs.119591

Evidence on tissue expression from TISSUES for AP2S1 Gene

  • Kidney(4.4)
  • Liver(4.3)
  • Skin(3.5)
  • Nervous system(2.9)
  • Thyroid gland(2.3)
  • Lung(2.2)

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

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 33 34
  • 99.53 (n)
dog
(Canis familiaris)
 Mammalia AP2S1 33 34
  • 93.9 (n)
cow
(Bos Taurus)
 Mammalia AP2S1 33 34
  • 93.43 (n)
mouse
(Mus musculus)
 Mammalia Ap2s1 16 34 33
  • 91.55 (n)
rat
(Rattus norvegicus)
 Mammalia Ap2s1 33
  • 89.91 (n)
oppossum
(Monodelphis domestica)
 Mammalia AP2S1 34
  • 47 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves AP2S1 34
  • 92 (a)
 OneToOne
LOC100859555 33
  • 85.32 (n)
lizard
(Anolis carolinensis)
 Reptilia AP2S1 34
  • 100 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ap2s1 33
  • 83.57 (n)
Str.5120 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.24043 33
zebrafish
(Danio rerio)
 Actinopterygii ap2s1 33 34
  • 85.68 (n)
Dr.28390 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.4730 33
fruit fly
(Drosophila melanogaster)
 Insecta AP-2sgr 35
  • 91 (a)
AP-2sigma 33 34
  • 83.8 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001703 33
  • 82.63 (n)
worm
(Caenorhabditis elegans)
 Secernentea aps-2 35 33 34
  • 77.7 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AFR370C 33
  • 57.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes APS2 33 36
  • 55.32 (n)
APS1 34
  • 37 (a)
 OneToMany
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0B06545g 33
  • 50 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT1G47830 33
  • 61.74 (n)
rice
(Oryza sativa)
 Liliopsida Os12g0207300 33
  • 65.73 (n)
corn
(Zea mays)
 Liliopsida Zm.3174 33
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.9849 34
  • 94 (a)
 OneToOne
bread mold
(Neurospora crassa)
 Ascomycetes NCU07989 33
  • 63.85 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes aps2 33
  • 56.81 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.7881 33
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)

Paralogs for AP2S1 Gene

Paralogs for AP2S1 Gene

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

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

Variants for AP2S1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for AP2S1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs397514498 pathogenic, Hypocalciuric hypercalcemia, familial, type III, Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740] 46,846,103(-) G/A coding_sequence_variant, missense_variant
rs397514499 pathogenic, Hypocalciuric hypercalcemia, familial, type III, not provided, Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740], Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740] 46,846,102(-) C/A/T coding_sequence_variant, missense_variant
rs1057522809 uncertain-significance, not specified 46,839,553(-) C/T coding_sequence_variant, intron_variant, missense_variant
rs1064795235 uncertain-significance, not specified 46,846,118(-) G/A coding_sequence_variant, missense_variant
rs312186 benign, not specified 46,839,460(-) C/A/G/T intron_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AP2S1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for AP2S1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for AP2S1

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

No data available for Genatlas for AP2S1 Gene

Publications for AP2S1 Gene

  1. 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 58
  2. 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 58
  3. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. (PMID: 23222959) Nesbit MA … Thakker RV (Nature genetics 2013) 2 3 4 58
  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 58
  5. An Interaction Landscape of Ubiquitin Signaling. (PMID: 28190767) Zhang X … Vermeulen M (Molecular cell 2017) 3 58

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Sources for AP2S1 Gene

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