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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AP1S2 Gene

protein-coding GIFtS: 63
GCID: GC0XM015843

adaptor-related protein complex 1, sigma 2 subunit

(Previous names: mental retardation, X-linked 59 )
(Previous symbol: MRX59)

Explore 9 diseases affiliated with
AP1S2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Adaptor-Related Protein Complex 1, Sigma 2 Subunit¹ ²		Mental Retardation, X-Linked 59¹
MRX59¹ ² ⁵		MGC:1902²
SIGMA1B¹ ²		MRXS21²
Adapter-Related Protein Complex 1 Sigma-1B Subunit² ³		MRXSF²
Adaptor Protein Complex AP-1 Sigma-1B Subunit² ³		AP-1 Complex Subunit Sigma-2²
Clathrin Assembly Protein Complex 1 Sigma-1B Small Chain² ³		Clathrin Adaptor Complex AP1 Sigma 1B Subunit²
Golgi Adaptor HA1/AP1 Adaptin Sigma-1B Subunit² ³		Golgi Adaptor HA1/AP1 Adaptin Sigma 1B Subunit²
Sigma 1B Subunit Of AP-1 Clathrin² ³		Sigma1B-Adaptin¹
Sigma-Adaptin 1B² ³		Sigma1B-Adaptin¹

External Ids:	HGNC: 560¹	Entrez Gene: 8905²	Ensembl: ENSG00000182287⁷	OMIM: 300629⁵	UniProtKB: P56377³

Export aliases for AP1S2 gene to outside databases

Previous GC identifers: GC0XM015565 GC0XM014669 GC0XM015045 GC0XM015206 GC0XM015207 GC0XM015603 GC0XM015753 GC0XM013597

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AP1S2:

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)

UniProtKB/Swiss-Prot: AP1S2_HUMAN, P56377

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 Wiki entry for AP1S2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_167197.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AP1S2 gene promoter:
Tal-1 Pbx1a Nkx2-2 Lmo2 IRF-1 NF-AT E47 FAC1 Sox9 NF-AT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AP1S2 promoter sequence

Search SABiosciences Chromatin IP Primers for AP1S2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AP1S2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.2 Ensembl cytogenetic band: Xp22.2 HGNC cytogenetic band: Xp22

AP1S2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP1S2 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM015843: view genomic region (about GC identifiers)

Start:	15,843,929 bp from pter	End:	15,873,100 bp from pter
Size:	29,172 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AP1S2_HUMAN, P56377 (See protein sequence)

Recommended Name: AP-1 complex subunit sigma-2

Size: 157 amino acids; 18615 Da

Subunit: 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

Subcellular location: 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

Sequence caution: Sequence=AAG44595.1; Type=Erroneous initiation;

Secondary accessions: O95326 Q9H2N6

Explore the universe of human proteins at neXtProt for AP1S2: NX_P56377

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P56377

AP1S2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001259000.1 NP_003907.3

ENSEMBL proteins:

ENSP00000328789 ENSP00000403498 ENSP00000369645 ENSP00000389474 ENSP00000444957

ENSP00000414714

Reactome Protein details: P56377
Human Recombinant Protein Products:

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	Novus Biologicals AP1S2 Proteins
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for AP1S2
	Browse Proteins at Uscn

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	TAS	--
GO:0005765	lysosomal membrane	TAS	--
GO:0005829	cytosol	TAS	--
GO:0005905	coated pit	IEA	--
GO:0030117	membrane coat	--	--

AP1S2 for ontologies About GeneDecksing

AP1S2 Antibody Products:

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	ThermoFisher Antibodies for AP1S2

Assay Products for AP1S2:

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	GenScript Custom Assay Services for AP1S2
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

AP1S2 for domains About GeneDecksing

4 InterPro domains/families:

IPR000804 Clathrin_sm-chain_CS

IPR022775 AP_mu_sigma_su

IPR016635 AP_complex_ssu

IPR011012 Longin-like_dom

Graphical View of Domain Structure for InterPro Entry P56377

ProtoNet protein and cluster: P56377

1 Blocks protein family: IPB000804 Clathrin adaptor complex

UniProtKB/Swiss-Prot: AP1S2_HUMAN, P56377

Similarity: Belongs to the adaptor complexes small subunit family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: AP1S2_HUMAN, P56377

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

miRNA Products:		miRTarBase miRNAs that target AP1S2: hsa-mir-204 (MIRT005816)

		OriGene 3'-UTR Clone: AP1S2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AP1S2
		8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate AP1S2 (see all 28):
		hsa-miR-623 hsa-miR-34b* hsa-miR-4311 hsa-miR-3938 hsa-miR-429 hsa-miR-139-5p hsa-miR-449a hsa-miR-888*

		SwitchGear 3'UTR luciferase reporter plasmid: AP1S2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AP1S2 (see all 7) OriGene shRNA RFP: AP1S2 OriGene siRNA: AP1S2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AP1S2

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for AP1S2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AP1S2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AP1S2 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: AP1S2 (NM_003916)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for AP1S2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP1S2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for AP1S2
		Search LifeMap BioReagents cell lines for AP1S2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP1S2

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008565	protein transporter activity	IEA	--

AP1S2 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Clathrin derived vesicle budding

	Clathrin derived vesicle budding	1.00			Golgi Associated Vesicle Biogenesis	0.89
	trans-Golgi Network Vesicle Budding	1.00			Lysosome Vesicle Biogenesis	0.39

Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters

	Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	1.00			Nef mediated downregulation of MHC class I complex cell surface expression	0.48
	The role of Nef in HIV-1 replication and disease pathogenesis	0.75			Degradation of MHC I Complex	0.48

Clathrin-dependent protein traffic

Clathrin-dependent protein traffic

1.00

Transport_Clathrin-coated vesicle cycle

0.66

Immune System

Immune System

1.00

Adaptive Immune System

0.59

HIV Infection

HIV Infection

1.00

Host Interactions of HIV factors

0.64

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for AP1S2

Clathrin-dependent protein traffic

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AP1S2

CTLA4 Signaling

1 GeneGo (Thomson Reuters) Pathway for AP1S2

Transport Clathrin-coated vesicle cycle

5/15 Reactome Pathways for AP1S2 (see all 15)

	Membrane Trafficking
	Clathrin derived vesicle budding
	trans-Golgi Network Vesicle Budding
	Adaptive Immune System
	Lysosome Vesicle Biogenesis

1 Kegg Pathway (Kegg details for AP1S2):

Lysosome

AP1S2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for AP1S2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/82 Interacting proteins for AP1S2 (P56377³ ENSP00000328789⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 82)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AP2B1	P63010³, ENSP00000314414⁴	I2D: score=6 STRING: ENSP00000314414
AP1S1	P61966³, ENSP00000336666⁴	I2D: score=1 STRING: ENSP00000336666
AP1M1	Q9BXS5³, ENSP00000388996⁴	I2D: score=6 STRING: ENSP00000388996
AP1G1	O43747³, ENSP00000377148⁴	I2D: score=12 STRING: ENSP00000377148
GGA3	Q9NZ52³, ENSP00000245541⁴	I2D: score=3 STRING: ENSP00000245541

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006886	intracellular protein transport	IEA	--
GO:0006892	post-Golgi vesicle-mediated transport	TAS	--
GO:0006897	endocytosis	IEA	--
GO:0016032	viral reproduction	TAS	--
GO:0016044	cellular membrane organization	TAS	--

AP1S2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

EMD Millipore small molecules for AP1S2:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AP1S2
Search CenterWatch for drugs/clinical trials and news about AP1S2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AP1S2 gene (2 alternative transcripts):

NM_001272071.1 NM_003916.4

Unigene Cluster for AP1S2:

Adaptor-related protein complex 1, sigma 2 subunit

Hs.653504 [show with all ESTs]

Unigene Representative Sequence: BX647483

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000329235(uc004cxh.3 uc004cxi.3 uc010nex.3 uc011miu.1)

ENST00000452376 ENST00000380291 ENST00000479184 ENST00000450644 ENST00000545766(uc011mis.1)

ENST00000421527(uc011mit.2)

miRNA Products:		OriGene 3'-UTR Clone: AP1S2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AP1S2
		8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate AP1S2 (see all 28):
		hsa-miR-623 hsa-miR-34b* hsa-miR-4311 hsa-miR-3938 hsa-miR-429 hsa-miR-139-5p hsa-miR-449a hsa-miR-888*

		SwitchGear 3'UTR luciferase reporter plasmid: AP1S2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AP1S2 (see all 7) OriGene shRNA RFP: AP1S2 OriGene siRNA: AP1S2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AP1S2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AP1S2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AP1S2 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: AP1S2 (NM_003916)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for AP1S2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP1S2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AP1S2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat AP1S2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AP1S2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AP1S2

Additional cDNA sequence:

AB015320.1 AF087876.1 AF091077.1 AK125525.1 AK130075.1 AK296135.1 AK299921.1 AK302908.1

AK312594.1 BC001117.2 BC071867.1 BT006738.1 BX537780.1 BX647483.1

24 DOTS entries:

DT.95113255 DT.118261 DT.95197258 DT.120961441 DT.95103522 DT.100789589 DT.100746201 DT.100789591

DT.86846902 DT.121304222 DT.100643237 DT.100712073 DT.121304224 DT.91751853 DT.121304253 DT.95176171

DT.106335 DT.121304174 DT.121304234 DT.95210970 DT.121304172 DT.121304233 DT.91751855 DT.95103521

24/411 AceView cDNA sequences (see all 411):

BM354133 BM978028 AI559273 BP340776 AA633089 CB117719 AA907724 CR608831

AI637556 BM662750 AB015320 BF221568 BE676206 AI168280 AA453891 AA193118

BE384353 AI887507 D59627 BU077814 AA400855 AA398799 AA126628 CB998897

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AP1S2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATTCCATAC

About this image

AP1S2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Spermatid

Germ Cells, Male Gametocytes

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See AP1S2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AP1S2

SOURCE GeneReport for Unigene cluster: Hs.653504

UniProtKB/Swiss-Prot: AP1S2_HUMAN, P56377

Tissue specificity: Widely expressed

SABiosciences Custom PCR Arrays for AP1S2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AP1S2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat AP1S2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AP1S2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AP1S2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP1S2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP1S2 gene from 9/35 species (see all 35) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	AP1S2¹	adaptor-related protein complex 1, sigma 2 subunit	86.62(n) 99.36(a)		418621 NM_001006261.1 NP_001006261.1
lizard (Anolis carolinensis)	Reptilia	AP1S2⁶	--	100(a)	1 ↔ 1	3(121623963-121661239)
tropical clawed frog (Xenopus tropicalis)	Amphibia	BX706087.1²	--	82.28(n)		BX706087.1
zebrafish (Danio rerio)	Actinopterygii	ap1s2¹	adaptor-related protein complex 1, sigma 2 subunit	77.92(n) 92.36(a)		327237 NM_205558.1 NP_991121.1
fruit fly (Drosophila melanogaster)	Insecta	AP-1&sgr;³ AP-1sigma¹	non-selective vesicle coating³ AP-1sigma¹	81(a)³ 69.68(n)¹ 83.23(a)¹		95D1³ 42835¹ NM_142941.2¹ NP_651198.1¹
worm (Caenorhabditis elegans)	Secernentea	aps-1¹	Protein APS-1	65.59(n) 80(a)		178989 NM_072158.3 NP_504559.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	APS1(YLR170C)⁴ APS1¹	Small subunit of the clathrin-associated adaptor complex more⁴ Aps1p¹	57.88(n)¹ 54.73(a)¹		12(501049-500579)⁴ 850868^{1, 4} NP_013271.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G35410¹	AP-1 complex subunit sigma-2	58.66(n) 59.74(a)		829694 NM_119707.3 NP_195267.1
rice (Oryza sativa)	Liliopsida	Os03g0783700¹	hypothetical protein	60.17(n) 58.44(a)		4334331 NM_001058004.1 NP_001051469.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for AP1S2 gene

AP1S3² AP4S1² AP1S1² AP2S1²

8 SIMAP similar genes for AP1S2 using alignment to 7 protein entries: AP1S2_HUMAN (see all proteins):

DKFZp779P0659 AP1S1 AP1S3 AP2S1 AP4S1 C15orf38-AP3S2

AP3S2 AP3S1

AP1S2 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for AP1S2
PGOHUM00000233484

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894735^1,2	C	pathogenic	15870494(-)	`AGTGGC/TGAGAT`	2	R *	stg¹		0	--	--	--	--
rs104894739^1,2	C	pathogenic	15870542(-)	`TTGTTC/TAGACC`	2	Q *	stg¹		0	--	--	--	--
rs180695083^1,2		--	15843571(+)	`AGGCCA/TGTTTT`	1	--	ds500¹		0	--	--	--	--
rs73202852^1,2	C,	--	15843649(+)	`GCAACC/TTAATT`	1	--	ds500¹		0	--	--	--	--
rs73635836^1,2	C,	--	15843705(+)	`GTAACG/ATTTCC`	1	--	ds500¹		1		WA	2
rs192141538^1,2		--	15843982(+)	`AGGCTC/GTCAGT`	1	--	ut3¹		0	--	--	--	--
rs12009071^1,2	C,H	--	15844041(+)	`CTTCCA/CCCATG`	1	--	ut3¹		2		NA	4
rs11559236^1,2	C	--	15844367(-)	`TTGTTC/TAGCGT`	1	--	ut3¹ ese³		2		NA	4
rs4830549^1,2	C	--	15844529(+)	`CACTTC/TTAAGT`	1	--	ut3¹ ese³		2		NA	4
rs149236916^1,2		--	15844578(+)	`CAGAGA/GGAACA`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for AP1S2 (15843929 - 15873100 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for AP1S2: --
Human Gene Mutation Database (HGMD): AP1S2

Locus Specific Mutation Databases (LSDB): AP1S2

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QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AP1S2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

AP1S2 for disorders           About GeneDecksing

OMIM gene information: 300629
OMIM disorders: 300630
UniProtKB/Swiss-Prot: AP1S2_HUMAN, P56377

Defects in AP1S2 are the cause of mental retardation X-linked type 59 (MRX59) [MIM:300630]. It is

characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative

behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental

retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual

deficiency is the only primary symptom of non-syndromic X-linked mental retardation. MRX59 consists of a

mild-to-profound mental retardation. Other features includes hypotonia early in life and delay in walking

9 diseases for AP1S2: About MalaCards

mental retardation, x-linked mental retardation syndrome intellectual disability kaposi's sarcoma

hydrocephalus hypotonia sarcoma immunodeficiency

malaria

1 disease from the University of Copenhagen DISEASES database for AP1S2:

Intellectual disability

Export disorders for AP1S2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for AP1S2 gene, integrated from 9 sources (see all 35):
(articles sorted by number of sources associating them with AP1S2)

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Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. (PubMed id 17186471)^{1, 2, 3, 9} Tarpey P.S....Raymond F.L. (2006)
Identification and characterization of novel clathrin adaptor-related proteins. (PubMed id 9733768)^{1, 2, 3} Takatsu H.... Nakayama K. (1998)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. (PubMed id 18428203)^{1, 9} Borck G....Colleaux L. (2008)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
The Nef-infectivity enigma: mechanisms of enhanced len tiviral infection. (PubMed id 22103831)¹ Vermeire J....Verhasselt B. (2011)
HIV-1 envelope glycoprotein biosynthesis, trafficking, and incorporation. (PubMed id 21762802)¹ Checkley M.A....Freed E.O. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 8905	HGNC: 560	AceView: AP1S2	Ensembl:ENSG00000182287	euGenes: HUgn8905
ECgene: AP1S2	Kegg: 8905	H-InvDB: AP1S2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for AP1S2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for AP1S2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for AP1S2 gene:
Search GeneIP for patents involving AP1S2

GeneCards and IP:
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adaptor-related protein complex 1, sigma 2 subunit

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AP1S2 Gene

adaptor-related protein complex 1, sigma 2 subunit

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