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Aliases for AP1S2 Gene

Aliases for AP1S2 Gene

  • Adaptor Related Protein Complex 1 Sigma 2 Subunit 2 3 5
  • Clathrin Assembly Protein Complex 1 Sigma-1B Small Chain 3 4
  • Adaptor-Related Protein Complex 1 Subunit Sigma-1B 3 4
  • Golgi Adaptor HA1/AP1 Adaptin Sigma-1B Subunit 3 4
  • Sigma1B-Adaptin 3 4
  • Adaptor-Related Protein Complex 1, Sigma 2 Subunit 2
  • Adapter-Related Protein Complex 1 Sigma-1B Subunit 3
  • Adaptor-Related Protein Complex 1 Sigma 2 Subunit 2
  • Pettigrew X-Linked Mental Retardation Syndrome 2
  • Adaptor Protein Complex AP-1 Sigma-1B Subunit 3
  • Clathrin Adaptor Complex AP1 Sigma 1B Subunit 3
  • Adaptor Protein Complex AP-1 Subunit Sigma-1B 4
  • Mental Retardation, X-Linked, Syndromic 5 2
  • Sigma 1B Subunit Of AP-1 Clathrin 4
  • Mental Retardation, X-Linked 59 2
  • AP-1 Complex Subunit Sigma-2 3
  • Sigma-Adaptin 1B 4
  • SIGMA1B 3
  • MRXS21 3
  • MRXSF 3
  • MRX59 3
  • MRXS5 3
  • DC22 3
  • PGS 3

External Ids for AP1S2 Gene

Previous HGNC Symbols for AP1S2 Gene

  • MRX59
  • MRXS5
  • PGS

Previous GeneCards Identifiers for AP1S2 Gene

  • GC0XM015565
  • GC0XM014669
  • GC0XM015045
  • GC0XM015206
  • GC0XM015207
  • GC0XM015603
  • GC0XM015753
  • GC0XM013597

Summaries for AP1S2 Gene

Entrez Gene Summary for AP1S2 Gene

  • Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

GeneCards Summary for AP1S2 Gene

AP1S2 (Adaptor Related Protein Complex 1 Sigma 2 Subunit) is a Protein Coding gene. Diseases associated with AP1S2 include Mental Retardation, X-Linked Syndromic 5 and Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures. Among its related pathways are Immune System and Vesicle-mediated transport. GO annotations related to this gene include protein transporter activity. An important paralog of this gene is AP1S1.

UniProtKB/Swiss-Prot for AP1S2 Gene

  • Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.

Gene Wiki entry for AP1S2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP1S2 Gene

Genomics for AP1S2 Gene

Regulatory Elements for AP1S2 Gene

Enhancers for AP1S2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF015832 0.2 Ensembl 32.8 +22.5 22514 0.2 PKNOX1 AP1S2 ZRSR2
GH0XF015850 0.4 FANTOM5 19.2 +4.7 4664 0.4 ZNF316 EMSY BMX AP1S2 ZRSR2
GH0XF015908 1.2 FANTOM5 Ensembl ENCODE 18.6 -55.4 -55421 4.3 CTCF SOX13 ATF1 CEBPG RAD21 EED SMC3 CREM SOX5 HLF ZRSR2 AP1S2 GC0XM015916 RNU5F-7P
GH0XF015915 1.2 Ensembl ENCODE 16.2 -61.4 -61355 1.5 ZFP64 ZBTB11 ZBTB8A ZBTB40 ZNF781 ZNF623 ZNF518A GABPA IKZF1 ETV6 ZRSR2 AP1S2 GC0XM015916 RNU5F-7P SETP15
GH0XF015902 0.9 Ensembl ENCODE 16.1 -48.5 -48464 1.4 PKNOX1 TBL1XR1 ZBTB40 RELA CBX5 EGR1 NFYB EED ETV6 CREM AP1S2 RNU5F-7P GC0XM015916
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AP1S2 on UCSC Golden Path with GeneCards custom track

Promoters for AP1S2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001488593 714 4201 HDGF ATF1 PKNOX1 CREB3L1 SIN3A FEZF1 GLIS2 ELK1 ZNF207 SP3

Genomic Location for AP1S2 Gene

Chromosome:
X
Start:
15,825,806 bp from pter
End:
15,855,014 bp from pter
Size:
29,209 bases
Orientation:
Minus strand

Genomic View for AP1S2 Gene

Genes around AP1S2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP1S2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP1S2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP1S2 Gene

Proteins for AP1S2 Gene

  • Protein details for AP1S2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56377-AP1S2_HUMAN
    Recommended name:
    AP-1 complex subunit sigma-2
    Protein Accession:
    P56377
    Secondary Accessions:
    • B4DSU4
    • O95326
    • Q9H2N6

    Protein attributes for AP1S2 Gene

    Size:
    157 amino acids
    Molecular mass:
    18615 Da
    Quaternary structure:
    • Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta-type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3). Binds to MUC1.
    SequenceCaution:
    • Sequence=AAG44595.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for AP1S2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP1S2 Gene

Post-translational modifications for AP1S2 Gene

  • Ubiquitination at Lys 17
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AP1S2 Gene

Domains & Families for AP1S2 Gene

Gene Families for AP1S2 Gene

Graphical View of Domain Structure for InterPro Entry

P56377

UniProtKB/Swiss-Prot:

AP1S2_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 AP1S2: view

Function for AP1S2 Gene

Molecular function for AP1S2 Gene

UniProtKB/Swiss-Prot Function:
Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.

Gene Ontology (GO) - Molecular Function for AP1S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008565 protein transporter activity IEA --
genes like me logo Genes that share ontologies with AP1S2: view
genes like me logo Genes that share phenotypes with AP1S2: view

Human Phenotype Ontology for AP1S2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for AP1S2 Gene

Localization for AP1S2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP1S2 Gene

Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AP1S2 Gene COMPARTMENTS Subcellular localization image for AP1S2 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
lysosome 4
vacuole 4
extracellular 2
nucleus 2
endosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AP1S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005765 lysosomal membrane TAS --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol TAS --
GO:0005905 clathrin-coated pit IEA --
genes like me logo Genes that share ontologies with AP1S2: view

Pathways & Interactions for AP1S2 Gene

genes like me logo Genes that share pathways with AP1S2: view

Pathways by source for AP1S2 Gene

1 GeneGo (Thomson Reuters) pathway for AP1S2 Gene
1 Qiagen pathway for AP1S2 Gene

Gene Ontology (GO) - Biological Process for AP1S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
genes like me logo Genes that share ontologies with AP1S2: view

No data available for SIGNOR curated interactions for AP1S2 Gene

Transcripts for AP1S2 Gene

Unigene Clusters for AP1S2 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AP1S2 Gene

No ASD Table

Relevant External Links for AP1S2 Gene

GeneLoc Exon Structure for
AP1S2
ECgene alternative splicing isoforms for
AP1S2

Expression for AP1S2 Gene

mRNA expression in normal human tissues for AP1S2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AP1S2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (27.2) and NK cells (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AP1S2 Gene



Protein tissue co-expression partners for AP1S2 Gene

NURSA nuclear receptor signaling pathways regulating expression of AP1S2 Gene:

AP1S2

SOURCE GeneReport for Unigene cluster for AP1S2 Gene:

Hs.121592

mRNA Expression by UniProt/SwissProt for AP1S2 Gene:

P56377-AP1S2_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with AP1S2: view

Primer Products

No data available for mRNA differential expression in normal tissues for AP1S2 Gene

Orthologs for AP1S2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP1S2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP1S2 34 35
  • 99.79 (n)
oppossum
(Monodelphis domestica)
Mammalia AP1S2 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP1S2 34 35
  • 97.88 (n)
cow
(Bos Taurus)
Mammalia AP1S2 34 35
  • 96.18 (n)
rat
(Rattus norvegicus)
Mammalia Ap1s2 34
  • 95.12 (n)
mouse
(Mus musculus)
Mammalia Ap1s2 34 16 35
  • 93.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AP1S2 35
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP1S2 34 35
  • 86.62 (n)
lizard
(Anolis carolinensis)
Reptilia AP1S2 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap1s2 34
  • 81.95 (n)
zebrafish
(Danio rerio)
Actinopterygii ap1s2 34 35
  • 77.92 (n)
fruit fly
(Drosophila melanogaster)
Insecta AP-1sgr 36
  • 81 (a)
AP-1sigma 34 35
  • 69.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004283 34
  • 70.75 (n)
worm
(Caenorhabditis elegans)
Secernentea aps-1 34 35
  • 65.59 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APS1 34 35 37
  • 57.88 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR124W 34
  • 55.85 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F22814g 34
  • 54.5 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G35410 34
  • 58.66 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1540 34
rice
(Oryza sativa)
Liliopsida Os03g0783700 34
  • 60.17 (n)
corn
(Zea mays)
Liliopsida Zm.5866 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3488 35
  • 70 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vas2 34
  • 60.57 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU10618 34
  • 58.4 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.268 34
Species where no ortholog for AP1S2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 AP1S2 Gene

ENSEMBL:
Gene Tree for AP1S2 (if available)
TreeFam:
Gene Tree for AP1S2 (if available)

Paralogs for AP1S2 Gene

Paralogs for AP1S2 Gene

Pseudogenes.org Pseudogenes for AP1S2 Gene

genes like me logo Genes that share paralogs with AP1S2: view

Variants for AP1S2 Gene

Sequence variations from dbSNP and Humsavar for AP1S2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs104894735 Pathogenic 15,852,371(-) AGTGG(C/T)GAGAT nc-transcript-variant, reference, stop-gained
rs104894739 Pathogenic 15,852,419(-) TTGTT(C/T)AGACC nc-transcript-variant, reference, stop-gained
rs137852213 Pathogenic 15,845,965(-) ACAAT(G/T)AACTA nc-transcript-variant, reference, stop-gained
rs587776738 Pathogenic 15,846,013(+) ATATC(-/TGTA)ACAAA splice-acceptor-variant
rs587776739 Pathogenic 15,845,898(+) TACTA(C/T)TCACA intron-variant

Variation tolerance for AP1S2 Gene

Residual Variation Intolerance Score: 45.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.04; 0.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP1S2 Gene

Human Gene Mutation Database (HGMD)
AP1S2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP1S2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for AP1S2 Gene

Disorders for AP1S2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for AP1S2 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked syndromic 5
  • pettigrew syndrome
dandy-walker malformation with intellectual disability, basal ganglia disease and seizures
  • pettigrew syndrome
basal ganglia disease
  • basal ganglia disorders
postgastrectomy syndrome
  • postgastric surgery syndrome
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards
Search AP1S2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AP1S2_HUMAN
  • Pettigrew syndrome (PGS) [MIM:304340]: A syndrome characterized by mental retardation and additional highly variable features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:17186471}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AP1S2

Genetic Association Database (GAD)
AP1S2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP1S2
genes like me logo Genes that share disorders with AP1S2: view

No data available for Genatlas for AP1S2 Gene

Publications for AP1S2 Gene

  1. Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. (PMID: 17186471) Tarpey P.S. … Raymond F.L. (Am. J. Hum. Genet. 2006) 2 3 4 22 64
  2. Identification and characterization of novel clathrin adaptor-related proteins. (PMID: 9733768) Takatsu H. … Nakayama K. (J. Biol. Chem. 1998) 2 3 4 64
  3. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). (PMID: 23756445) Cacciagli P. … Villard L. (Eur. J. Hum. Genet. 2013) 2 3 64
  4. Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. (PMID: 18428203) Borck G. … Colleaux L. (Hum. Mutat. 2008) 3 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for AP1S2 Gene

Sources for AP1S2 Gene

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