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 ... See more...

Aliases for AP1S2 Gene

Aliases for AP1S2 Gene

  • Adaptor Related Protein Complex 1 Subunit Sigma 2 2 3 5
  • Clathrin Assembly Protein Complex 1 Sigma-1B Small Chain 3 4
  • Adaptor-Related Protein Complex 1 Subunit Sigma-1B 3 4
  • Adaptor Related Protein Complex 1 Sigma 2 Subunit 2 3
  • Golgi Adaptor HA1/AP1 Adaptin Sigma-1B Subunit 3 4
  • AP-1 Complex Subunit Sigma-2 3 4
  • Sigma1B-Adaptin 3 4
  • SIGMA1B 2 3
  • Adapter-Related Protein Complex 1 Sigma-1B Subunit 3
  • 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
  • Sigma-Adaptin 1B 4
  • MRXS21 3
  • MRX59 3
  • MRXS5 3
  • MRXSF 3
  • AP1S2 5
  • 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
  • GC0XM015843
  • 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 Subunit Sigma 2) is a Protein Coding gene. Diseases associated with AP1S2 include Pettigrew Syndrome and Basal Ganglia Disease. Among its related pathways are Lysosome and Clathrin derived vesicle budding. Gene Ontology (GO) annotations related to this gene include protein transporter activity. An important paralog of this gene is AP1S1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AP1S2 Gene

Genomics for AP1S2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AP1S2 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
GH0XJ015852 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 625.2 +0.6 550 5.6 CREB1 HNRNPL PRDM10 REST ZNF629 TFE3 IKZF1 ZNF692 POLR2A JUND AP1S2 lnc-ZRSR2-5 GRPR ZRSR2 CA5B lnc-CLTRN-3
GH0XJ015902 Enhancer 1.2 FANTOM5 Ensembl ENCODE 33.1 -56.5 -56535 19.4 SOX13 IKZF1 KDM1A ETV6 STAT3 RELA POLR2A TCF12 IKZF2 PKNOX1 ZRSR2 AP1S2 RF00020-027 RNU5F-7P SETP15 lnc-ZRSR2-4 piR-61514-215 GRPR
GH0XJ015673 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.2 +179.1 179128 3.9 SP1 CREB1 PRDM10 ZNF629 POLR2A ZNF692 TARDBP ZHX2 PRDM1 ZNF143 CLTRN CA5BP1 CA5BP1-CA5B ENSG00000285602 CA5B ENSG00000200620 PIR AP1S2 PIGA ZRSR2
GH0XJ015833 Enhancer 0.6 Ensembl 30.3 +20.6 20565 1.2 ATF7 JUND BRF2 ZBTB17 ATF2 SPI1 CREM HIC1 ATF3 PRDM6 AP1S2 NONHSAG054085.2 lnc-CLTRN-3 ZRSR2
GH0XJ016023 Enhancer 1.2 FANTOM5 Ensembl ENCODE 9.9 -168.7 -168742 3 BACH1 STAT3 JUND RELA TCF12 IKZF2 TRIM22 PKNOX1 EED ARID3A ZRSR2 AP1S2 RF00017-8176 piR-41245-298 GRPR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AP1S2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AP1S2

Top Transcription factor binding sites by QIAGEN in the AP1S2 gene promoter:
  • E47
  • FAC1
  • IRF-1
  • Lmo2
  • NF-AT
  • NF-AT3
  • Nkx2-2
  • Pbx1a
  • Sox9
  • Tal-1

Genomic Locations for AP1S2 Gene

Genomic Locations for AP1S2 Gene
chrX:15,825,806-15,854,966
(GRCh38/hg38)
Size:
29,161 bases
Orientation:
Minus strand
chrX:15,843,929-15,873,100
(GRCh37/hg19)
Size:
29,172 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=Extended N-terminus.; 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 Lys17
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AP1S2 Gene

Domains & Families for AP1S2 Gene

Gene Families for AP1S2 Gene

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

Protein Domains for AP1S2 Gene

InterPro:
Blocks:
  • Clathrin adaptor complex, small chain
ProtoNet:

Suggested Antigen Peptide Sequences for AP1S2 Gene

GenScript: Design optimal peptide antigens:
  • Sigma1B-adaptin (AP1S2_HUMAN)
  • cDNA FLJ52741, highly similar to Mus musculus adaptor-related protein complex 1, sigma 2 subunit (Ap1s2), mRNA (B4DSU4_HUMAN)
  • cDNA FLJ53621, highly similar to Adapter-relatedprotein complex 1 sigma- 1B subunit (B7Z3M9_HUMAN)
  • Clathrin-associated protein 19 (Q549M9_HUMAN)

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.

Phenotypes From GWAS Catalog for AP1S2 Gene

Gene Ontology (GO) - Molecular Function for AP1S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP1S2

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
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 AP1S2 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
lysosome 4
extracellular 3
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endosome 2
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

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 IEA,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
  • Transport Clathrin-coated vesicle cycle
1 Qiagen pathway for AP1S2 Gene
  • CTLA4 Signaling

Gene Ontology (GO) - Biological Process for AP1S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA,IBA 21873635
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0050690 regulation of defense response to virus by virus TAS --
genes like me logo Genes that share ontologies with AP1S2: view

No data available for SIGNOR curated interactions for AP1S2 Gene

Drugs & Compounds for AP1S2 Gene

No Compound Related Data Available

Transcripts for AP1S2 Gene

mRNA/cDNA for AP1S2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP1S2

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

No ASD Table

Relevant External Links for AP1S2 Gene

GeneLoc Exon Structure for
AP1S2

Expression for AP1S2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for AP1S2 Gene



Protein tissue co-expression partners for AP1S2 Gene

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

Evidence on tissue expression from TISSUES for AP1S2 Gene

  • Nervous system(5)
  • Skin(4.8)
  • Blood(4.5)
  • Lymph node(4.4)
  • Spleen(4.4)
  • Heart(3.6)
  • Muscle(3.4)
  • Lung(2.7)
  • Intestine(2.7)
  • Kidney(2.7)
  • Liver(2.5)
  • Bone marrow(2.4)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AP1S2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • skull
  • tooth
Thorax:
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with AP1S2: view

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 30 31
  • 99.79 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AP1S2 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia AP1S2 30 31
  • 97.88 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AP1S2 30 31
  • 96.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ap1s2 30
  • 95.12 (n)
Mouse
(Mus musculus)
Mammalia Ap1s2 30 17 31
  • 93.38 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AP1S2 31
  • 93 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AP1S2 30 31
  • 86.62 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AP1S2 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ap1s2 30
  • 81.95 (n)
Zebrafish
(Danio rerio)
Actinopterygii ap1s2 30 31
  • 77.92 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta AP-1&sgr; 32
  • 81 (a)
AP-1sigma 30 31
  • 69.03 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004283 30
  • 70.75 (n)
Worm
(Caenorhabditis elegans)
Secernentea aps-1 30 31
  • 65.59 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APS1 30 31 33
  • 57.88 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR124W 30
  • 55.85 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F22814g 30
  • 54.5 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G35410 30
  • 58.66 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1540 30
Rice
(Oryza sativa)
Liliopsida Os03g0783700 30
  • 60.17 (n)
Corn
(Zea mays)
Liliopsida Zm.5866 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3488 31
  • 70 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vas2 30
  • 60.57 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU10618 30
  • 58.4 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.268 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for AP1S2: view image

Paralogs for AP1S2 Gene

Paralogs for AP1S2 Gene

(8) SIMAP similar genes for AP1S2 Gene using alignment to 6 proteins:

  • AP1S2_HUMAN
  • A6NH01_HUMAN
  • B7Z3M9_HUMAN
  • H0Y673_HUMAN
  • H7BZG6_HUMAN
  • Q549M9_HUMAN

Pseudogenes.org Pseudogenes for AP1S2 Gene

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

Variants for AP1S2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AP1S2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
785694 Likely Benign: not provided 15,845,525(-) G/A INTRON_VARIANT
rs1016898604 Uncertain Significance: History of neurodevelopmental disorder 15,827,324(-) G/A THREE_PRIME_UTR_VARIANT
rs104894735 Pathogenic: Pettigrew syndrome; not provided 15,852,371(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
rs104894739 Pathogenic: Pettigrew syndrome 15,852,419(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
rs1057520872 Likely Benign: not specified 15,828,209(-) G/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for AP1S2 Gene

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)

Additional Variant Information for AP1S2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

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

Disorder Aliases PubMed IDs
pettigrew syndrome
  • pgs
basal ganglia disease
  • basal ganglia diseases
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive
taylor's syndrome
  • congestion-fibrosis syndrome
supraglottis cancer
  • ca larynx - supraglottis
- 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.

Additional Disease Information for 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 PS … Raymond FL (American journal of human genetics 2006) 2 3 4 23
  2. Identification and characterization of novel clathrin adaptor-related proteins. (PMID: 9733768) Takatsu H … Nakayama K (The Journal of biological chemistry 1998) 2 3 4
  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 (European journal of human genetics : EJHG 2014) 2 3
  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 (Human mutation 2008) 3 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for AP1S2 Gene

Sources for AP1S2 Gene