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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
External Ids for AP1S2 Gene
- HGNC: 560
- Entrez Gene: 8905
- Ensembl: ENSG00000182287
- OMIM: 300629
- UniProtKB: P56377
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
-
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.
Additional gene information for AP1S2 Gene
- HGNC(560)
- Entrez Gene(8905)
- Ensembl(ENSG00000182287)
- OMIM(300629)
- UniProtKB(P56377)
- Open Targets Platform(ENSG00000182287)
- Monarch Initiative
- Search for AP1S2 at DataMed
- Search for AP1S2 at HumanCyc
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
- 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:
-
- Xp22.2 by HGNC
- Xp22.2 by Entrez Gene
- Xp22.2 by Ensembl
AP1S2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for AP1S2 Gene
Post-translational modifications for AP1S2 Gene
Other Protein References for AP1S2 Gene
Antibody Products
- LifeSpan BioSciences AP1S2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for AP1S2
- Novus Biologicals Antibodies for AP1S2
-
Abcam antibodies for AP1S2
- Invitrogen Antibodies for AP1S2 (AFLGC-AP1S2)
-
Biorbyt antibodies for AP1S2
Protein Products
-
OriGene Purified Proteins for AP1S2
- Search Origene for MassSpec and Protein Over-expression Lysates for AP1S2
- Origene Custom Protein Services for AP1S2
- Novus Biologicals proteins for AP1S2
- ProSpec Recombinant Proteins for AP1S2
- antibodies-online: Show 6 available AP1S2 Proteins ranked by validation data
- Compare Top AP1S2 Proteins
-
Quality Products:
-
Abcam proteins for AP1S2
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- Family:
-
- Belongs to the adaptor complexes small subunit family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for AP1S2 Gene
- MGI mutant phenotypes for AP1S2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for AP1S2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AP1S2 - Select products 50% OFF >
- * AP1S2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AP1S2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AP1S2
-
Santa Cruz Biotechnology (SCBT) CRISPR for AP1S2
miRNA for AP1S2 Gene
- miRTarBase miRNAs that target AP1S2
-
- hsa-miR-204-5p (MIRT005816)
- mmu-miR-758-3p (MIRT007607)
- mmu-miR-340-5p (MIRT010500)
- mmu-miR-26a-5p (MIRT011248)
- mmu-miR-30e-5p (MIRT013372)
- mmu-miR-9-5p (MIRT015414)
- hsa-miR-215-5p (MIRT024614)
- hsa-miR-192-5p (MIRT026570)
- hsa-miR-211-5p (MIRT054445)
- hsa-miR-2681-5p (MIRT624720)
- hsa-miR-5006-3p (MIRT624721)
- hsa-miR-4755-5p (MIRT624722)
- hsa-miR-623 (MIRT624723)
- hsa-miR-542-3p (MIRT624724)
- hsa-miR-4504 (MIRT624725)
- hsa-miR-6832-3p (MIRT624726)
- hsa-miR-3938 (MIRT624727)
- hsa-miR-5580-3p (MIRT624728)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AP1S2
- Browse OriGene Inhibitory RNA Products For AP1S2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP1S2
Clone Products
- Applied Biological Materials (abm): Clones for AP1S2 - Select products 50% OFF >
- * AP1S2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for AP1S2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AP1S2
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Golgi apparatus (3)
- Vesicles (3)
| 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 | -- |
Pathways & Interactions for AP1S2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Clathrin derived vesicle budding | ||
| 2 | HIV Life Cycle |
.65
|
.45
|
| 3 | Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters | ||
| 4 | Vesicle-mediated transport | ||
| 5 | Human cytomegalovirus infection | ||
Pathways by source for AP1S2 Gene
16 Reactome pathways for AP1S2 Gene
2 KEGG pathways for AP1S2 Gene
1 GeneGo (Thomson Reuters) pathway for AP1S2 Gene
- Transport Clathrin-coated vesicle cycle
1 Qiagen pathway for AP1S2 Gene
- CTLA4 Signaling
Interacting Proteins for AP1S2 Gene
Selected Interacting proteins:
P56377-AP1S2_HUMAN
ENSP00000444957
for AP1S2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for AP1S2
| 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 | -- |
No data available for SIGNOR curated interactions for AP1S2 Gene
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 :
-
- ENST00000672987 2128 nts (view in UCSC)
- ENST00000329235 2237 nts (view in UCSC)
- ENST00000673445 1064 nts (view in UCSC)
- ENST00000452376 991 nts (view in UCSC)
- ENST00000671830 1167 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AP1S2 - Select products 50% OFF >
- * AP1S2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AP1S2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AP1S2
-
Santa Cruz Biotechnology (SCBT) CRISPR for AP1S2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AP1S2
- Browse OriGene Inhibitory RNA Products For AP1S2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP1S2
Clone Products
- Applied Biological Materials (abm): Clones for AP1S2 - Select products 50% OFF >
- * AP1S2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for AP1S2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AP1S2
Relevant External Links for AP1S2 Gene
- GeneLoc Exon Structure for
- AP1S2
Expression for AP1S2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Pancreas (Endocrine System)
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Endocrine Progenitor Cells Ventral Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Ventral Pancreatic Bud
-
Epithelial Cells
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Endocrine Progenitor Cells Ventral Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Ventral Pancreatic Bud
- Inner Cell Mass (Early Embryonic Tissues)
-
Blood (Hematopoietic System)
- Monocytes Peripheral Blood
-
Testis (Reproductive System)
- Spermatid Seminiferous Tubules
-
Gonad
- Spermatid Seminiferous Tubules
-
Dermis (Integumentary System)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AP1S2
SOURCE GeneReport for Unigene cluster for AP1S2 Gene:
Hs.121592mRNA 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
Primer Products
-
OriGene qPCR primer pairs for AP1S2
-
OriGene qPCR primer pairs and template standards for AP1S2
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | AP1S2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | AP1S2 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | AP1S2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | AP1S2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ap1s2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Ap1s2 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | AP1S2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | AP1S2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | AP1S2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ap1s2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ap1s2 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | AP-1&sgr; 32 |
|
|
|
| AP-1sigma 30 31 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004283 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | aps-1 30 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | APS1 30 31 33 |
|
OneToMany | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR124W 30 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F22814g 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G35410 30 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.1540 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os03g0783700 30 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.5866 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3488 31 |
|
OneToMany | |
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | vas2 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU10618 30 |
|
||
| 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
(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
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 |
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
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
(12) MalaCards diseases for AP1S2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pettigrew syndrome |
|
|
| basal ganglia disease |
|
|
| hydrocephalus |
|
|
| taylor's syndrome |
|
|
| supraglottis cancer |
|
|
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
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for AP1S2 Gene
Publications for AP1S2 Gene
- 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
- Identification and characterization of novel clathrin adaptor-related proteins. (PMID: 9733768) Takatsu H … Nakayama K (The Journal of biological chemistry 1998) 2 3 4
- 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
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for AP1S2 Gene
- Custom Antibody ServicesOriGene Antibodies for AP1S2
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Sources for AP1S2 Gene
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