Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

STON2 Gene

protein-coding GIFtS: 49
GCID: GC14M081736

stonin 2

Explore 1 disease affiliated with
STON2 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
Stonin 2¹ ²		Homolog Of Stoned B²
STN2¹ ² ³		Stoned B Homolog 2²
STNB2¹ ²		Stonin-2¹
STNB² ³		Stoned B³

External Ids:	HGNC: 30652¹	Entrez Gene: 85439²	Ensembl: ENSG00000140022⁷	OMIM: 608467⁵	UniProtKB: Q8WXE9³

Export aliases for STON2 gene to outside databases

Previous GC identifers: GC14M080807 GC14M061904

(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 STON2:

This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein

product is described as one of the clathrin-associated sorting proteins, adaptor molecules which ensure specific

proteins are internalized. The encoded protein has also been shown to participate in synaptic vesicle recycling

through interaction with synaptotagmin 1 required for neurotransmission. Multiple transcript variants encoding

different isoforms have been found for this gene. (provided by RefSeq, Jan 2012)

UniProtKB/Swiss-Prot: STON2_HUMAN, Q8WXE9

Function: Adapter protein involved in endocytic machinery. May be involved in the vesicle recycling. May facilitate

clathrin-coated vesicle uncoating

(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_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the STON2 gene promoter:
POU2F2 (Oct-2.1) Oct-B1 oct-B3 oct-B2 Arnt POU2F2 POU2F2C POU2F1 POU2F1a POU2F2B
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: STON2 promoter sequence

Search SABiosciences Chromatin IP Primers for STON2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STON2

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

Entrez Gene cytogenetic band: 14q31.1 Ensembl cytogenetic band: 14q31.1 HGNC cytogenetic band: 14q31.1

STON2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STON2 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M081736: view genomic region (about GC identifiers)

Start:	81,727,000 bp from pter	End:	81,902,809 bp from pter
Size:	175,810 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: STON2_HUMAN, Q8WXE9 (See protein sequence)

Recommended Name: Stonin-2

Size: 905 amino acids; 101165 Da

Subunit: Interacts with the second C2 domain of synaptotagmins SYT1 and SYT2. Interacts with EPS15, EPS15R and ITSN1.

Interacts indirectly with the AP-2 adapter complex

Subcellular location: Cytoplasm. Membrane. Note=Some fraction is membrane-associated

Sequence caution: Sequence=AAK57558.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAK57558.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=AAK76362.1; Type=Frameshift;

Positions=122; Sequence=BAD92185.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

1 PDB 3D structure from and Proteopedia for STON2:

2JXC (3D)

Secondary accessions: G3V2T7 Q17R24 Q59H11 Q6NT47 Q96RI7 Q96RU6

Alternative splicing: 2 isoforms: Q8WXE9-1 Q8WXE9-3 (No experimental confirmation available. Ref.3 (BAD92185) sequence is in conflict in position: 899:V->L)

Explore the universe of human proteins at neXtProt for STON2: NX_Q8WXE9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8WXE9

STON2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001243359.1 NP_149095.2

ENSEMBL proteins:

ENSP00000450857 ENSP00000450577 ENSP00000267540 ENSP00000450990 ENSP00000451383

Human Recombinant Protein Products for STON2:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for STON2
	GenScript Custom Purified and Recombinant Proteins Services for STON2
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for STON2

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005730	nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0008021	synaptic vesicle	--	--
GO:0030131	clathrin adaptor complex	IEA	--
GO:0030136	clathrin-coated vesicle	--	--

STON2 for ontologies About GeneDecksing

STON2 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for STON2
	GenScript Custom Superior Antibodies Services for STON2
	Novus Biologicals STON2 Antibody
	Abcam antibodies for STON2
	Uscn Antibodies for STON2
	Search ThermoFisher Antibodies for STON2

Assay Products for STON2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for STON2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for STON2

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

STON2 for domains About GeneDecksing

4 InterPro domains/families:

IPR008968 Clathrin_mu_C

IPR012320 SHD

IPR022699 Stonin2_N

IPR017110 Stonin

Graphical View of Domain Structure for InterPro Entry Q8WXE9

ProtoNet protein and cluster: Q8WXE9

UniProtKB/Swiss-Prot: STON2_HUMAN, Q8WXE9

Domain: The Asn-Pro-Phe (NPF) motifs, which are found in proteins involved in the endocytic pathway, mediate the

interaction with the EH domain of SYT1, SYT2, EPS15, EPS15R and ITSN1

Similarity: Belongs to the Stoned B family

Similarity: Contains 1 MHD (mu homology) domain

Similarity: Contains 1 SHD (stonin homology) domain

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: STON2_HUMAN, Q8WXE9

Function: Adapter protein involved in endocytic machinery. May be involved in the vesicle recycling. May facilitate

clathrin-coated vesicle uncoating

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:0005515	protein binding	IPI	11454741

STON2 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for STON2:

Increased gamma-H2AX phosphory

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for STON2

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat STON2
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate STON2
		Browse SwitchGear 3'UTR luciferase reporter plasmids

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 STON2 (see all 7) OriGene shRNA RFP: STON2 OriGene siRNA: STON2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STON2
		Sirion Biotech Custom design and validation of potent shRNA sequences against STON2

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for STON2
			Sirion Biotech Customized adenovirus for overexpression of STON2 Sirion Biotech Customized adenovirus for potent knockdown of STON2

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 STON2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STON2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: STON2 (NM_033104)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for STON2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STON2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for STON2
		Search LifeMap BioReagents cell lines for STON2
		Sirion Biotech Customized stable knockdown cell line services for STON2 Sirion Biotech Customized inducible knockdown cell line services for STON2 Sirion Biotech Customized stable overexpressing cell line services for STON2 Sirion Biotech Customized inducible overexpressing cell line services for STON2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STON2

(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

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for STON2

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

5/55 Interacting proteins for STON2 (Q8WXE9^{1, 2, 3} ENSP00000267540⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 55)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
EPS15	P42566²^,³, ENSP00000360798⁴	MINT-6180038 MINT-6180111 MINT-6180129 MINT-6180018 MINT-6179779 MINT-6179905 MINT-6180093 MINT-6179941 MINT-6180075 MINT-6179996 MINT-6179890 MINT-6179923 MINT-6179875 MINT-6179857 MINT-6179977 MINT-6180056 I2D: score=4 STRING: ENSP00000360798
EPS15L1	Q9UBC2²^,³, ENSP00000248070⁴	MINT-6180146 I2D: score=3 STRING: ENSP00000248070
EHD1	Q9H4M9²^,³, ENSP00000320516⁴	MINT-6180161 I2D: score=1 STRING: ENSP00000320516
NEDD8	Q15843²^,³, ENSP00000250495⁴	MINT-8092276 MINT-8092289 I2D: score=1 STRING: ENSP00000250495
SYT1	P21579²^,³, ENSP00000261205⁴	MINT-6179779 I2D: score=3 STRING: ENSP00000261205

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006886	intracellular protein transport	IEA	--
GO:0006897	endocytosis	IEA	--
GO:0030100	regulation of endocytosis	ISS	14726597

STON2 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

STON2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for STON2
1 Novoseek chemical compound relationship for STON2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	14.1	2	14726597 (1)

Search CenterWatch for drugs/clinical trials and news about STON2

(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, Sirion Biotech, 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 STON2 gene (2 alternative transcripts):

NM_001256430.1 NM_033104.3

Unigene Cluster for STON2:

Stonin 2

Hs.14248 [show with all ESTs]

Unigene Representative Sequence: NM_033104

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

ENST00000555447(uc001xvk.1) ENST00000553821 ENST00000555284(uc010tvt.2)

ENST00000267540(uc010tvu.2) ENST00000556280 ENST00000555226(uc010atc.1)

ENST00000557055 ENST00000554710

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat STON2
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate STON2
		Browse SwitchGear 3'UTR luciferase reporter plasmids

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 STON2 (see all 7) OriGene shRNA RFP: STON2 OriGene siRNA: STON2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STON2
		Sirion Biotech Custom design and validation of potent shRNA sequences against STON2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STON2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STON2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: STON2 (NM_033104)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for STON2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STON2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for STON2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat STON2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STON2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STON2

Additional cDNA sequence:

AB208948.1 AF255309.1 AF380833.1 AF449430.1 AK094799.1 AK309171.1 BC069359.1 BC069389.1

BC069502.1 BC069587.1 BC117493.1 BC117495.1 BX648249.1

10 DOTS entries:

DT.100022341 DT.97816547 DT.91677889 DT.95332383 DT.109251 DT.92064265 DT.91668927 DT.404626

DT.312335 DT.91640997

24/78 AceView cDNA sequences (see all 78):

BF934438 N76626 AI860620 BX090979 BI018881 BC069389 AF449430 NM_033104

BM700378 BU742736 AI991413 AI742489 BC069359 BM728825 AI382941 AI859804

BE379991 BG403314 BE242834 CB994412 BC069502 BX501503 AF380833 BG287767

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for STON2 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6a	·	6b	·	6c	^	7a	·	7b
SP1:							-		-		-
SP2:											-
SP3:

ECgene alternative splicing isoforms for STON2

(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

STON2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCTTTGGAT

About this image
See STON2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for STON2

SOURCE GeneReport for Unigene cluster: Hs.14248

UniProtKB/Swiss-Prot: STON2_HUMAN, Q8WXE9

Tissue specificity: Ubiquitous

SABiosciences Custom PCR Arrays for STON2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for STON2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat STON2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STON2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STON2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STON2

(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 animals.

Orthologs for STON2 gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ston2^{1 , 5}	stonin 2^{1, 5}	85.86(n)¹ 89.31(a)¹		12 (45.02 cM)⁵ 108800¹ NM_175367.6¹ NP_780576.1¹ 91638542⁵
chicken (Gallus gallus)	Aves	STON2¹	stonin 2	72.32(n) 73.17(a)		423390 XM_421302.2 XP_421302.2
lizard (Anolis carolinensis)	Reptilia	STON2⁶	--	67(a)	1 ↔ 1	1(17815490-17875704)
zebrafish (Danio rerio)	Actinopterygii	wufc70h07²	Transcribed sequence with weak similarity to protein more	75.76(n)		57051796
fruit fly (Drosophila melanogaster)	Insecta	stnB⁶	stoned B	15(a)	1 → many	X(22382558-22406483)
worm (Caenorhabditis elegans)	Secernentea	unc-41⁶	Putative stoned B-like protein	12(a)	1 → many	V(9966380-9976202)

ENSEMBL Gene Tree for STON2 (if available)
TreeFam Gene Tree for STON2 (if available)

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

Paralogs for STON2 gene

GTF2A1L² GTF2A1² STON1² STON1-GTF2A1L²

2 SIMAP similar genes for STON2 using alignment to 7 protein entries: STON2_HUMAN (see all proteins):

STON1 STON1-GTF2A1L

STON2 for paralogs About GeneDecksing

(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 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12880551^1,2	C,F,H	--	81726571(+)	`CACAGG/ATACGC`	2	--	int¹		16		NS EA NA WA	1964
rs114551288^1,2	F	--	81726574(+)	`AGGTAC/TGCTGT`	2	--	int¹		1		WA	118
rs144726378^1,2		--	81726742(+)	`ATCTCG/TATCTC`	2	--	int¹		0	--	--	--	--
rs75803647^1,2	C	--	81726828(+)	`CTATCC/TTGAAT`	2	--	int¹		0	--	--	--	--
rs148893247^1,2		--	81726962(+)	`CTTCAC/TATGTC`	2	--	int¹		0	--	--	--	--
rs115121053^1,2	F	--	81727014(+)	`TTTTTT/CATTAA`	2	--	ut3¹		1		WA	118
rs190494004^1,2		--	81727257(+)	`CACTGG/TATCTT`	2	--	ut3¹		0	--	--	--	--
rs143456037^1,2		--	81727368(+)	`TTTGAC/TTAATC`	2	--	ut3¹		0	--	--	--	--
rs79693820^1,2	C	--	81727383(+)	`GAATAC/TGGTAG`	2	--	ut3¹		0	--	--	--	--
rs147988578^1,2		--	81727467(+)	`TCCTTC/GTCTTC`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for STON2 (81727000 - 81902809 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for STON2
1 CNV: 23489
Human Gene Mutation Database (HGMD): STON2

SABiosciences Cancer Mutation PCR Assays

Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing STON2

DNA2.0 Custom Variant and Variant Library Synthesis for STON2

(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

STON2 for disorders           About GeneDecksing

OMIM gene information: 608467    OMIM disorders: --

1 disease for STON2:    About MalaCards

neuronitis

Export disorders for STON2 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 STON2 gene, integrated from 9 sources (see all 23):
(articles sorted by number of sources associating them with STON2)

Utopia: connect your pdf to the dynamic
world of online information

Stonin 2: an adaptor-like protein that interacts with components of the endocytic machinery. (PubMed id 11381094)^{1, 2, 3, 9} Martina J.A.... Bonifacino J.S. (2001)
Human stoned B interacts with AP-2 and synaptotagmin and facilitates clathrin-coated vesicle uncoating. (PubMed id 11454741)^{1, 2, 3} Walther K....Haucke V. (2001)
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)
The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)^{1, 2} Heilig R.... Weissenbach J. (2003)
Functional dissection of the interactions of stonin 2 with the adaptor complex AP-2 and synaptotagmin. (PubMed id 14726597)^{1, 9} Walther K....Haucke V. (2004)
Stonin 2 is an AP-2-dependent endocytic sorting adaptor for synaptotagmin internalization and recycling. (PubMed id 16459302)^{1, 9} Diril M.K....Haucke V. (2006)
Stonins--specialized adaptors for synaptic vesicle re cycling and beyond? (PubMed id 19732400)^{1, 9} Maritzen T....Haucke V. (2010)
Positive association of the human STON2 gene with schi zophrenia. (PubMed id 21407139)¹ Luan Z....Zhang D. (2011)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
CSN complex controls the stability of selected synapt ic proteins via a torsinA-dependent process. (PubMed id 21102408)¹ Granata A....Warner T.T. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 85439	HGNC: 30652	AceView: STN2	Ensembl:ENSG00000140022	euGenes: HUgn85439
ECgene: STON2	H-InvDB: STON2

(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 STON2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for STON2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for STON2 gene:
Search GeneIP for patents involving STON2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for STON2
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for STON2		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for STON2
	Browse OriGene Protein Over-expression Lysates		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for STON2		Browse 3'-UTR reporter clones for miRNA target validation
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STON2		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STON2
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for STON2		OriGene Custom Protein Services for STON2
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat STON2
	Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing STON2
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STON2
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STON2
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STON2
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STON2

	GenScript Custom Purified and Recombinant Proteins Services for STON2		GenScript cDNA clones with any tag delivered in your preferred vector for STON2
	GenScript Custom Assay Services for STON2		GenScript Custom Superior Antibodies Services for STON2
	GenScript Custom overexpressing Cell Line Services for STON2		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in STON2 promoter
	Search Chromatin IP Primers for STON2
	RT² qPCR Primer Assay in human, mouse, rat STON2
	GNC Network for STON2
	SABiosciences Custom PCR Arrays for STON2

Search Tocris compounds for STON2

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	STON2 antibodies

	Antibodies for STON2
	See all of Abcam's Antibodies, Kits and Proteins for STON2
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

STON2 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for STON2

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STON2

	Browse SwitchGear 3'UTR luciferase reporter plasmids for STON2
	SwitchGear Promoter luciferase reporter plasmids for STON2

Search ThermoFisher Antibodies for STON2

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STON2

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for STON2

Sirion Biotech Customized:

	stable knockdown cell line services for STON2
	inducible knockdown cell line services for STON2
	design and validation of potent shRNA sequences against STON2
	adenovirus for potent knockdown of STON2
	adenovirus for overexpression of STON2
	stable overexpressing cell line services for STON2
	inducible overexpressing cell line services for STON2

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes STON2 gene at Home site.

hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

STON2 Gene

stonin 2

Aliases
for STON2 gene

Summaries
for STON2 gene

Genomic Views
for STON2 gene

Proteins
for STON2 gene

Protein Domains /
Families
for STON2 gene

Function
for STON2 gene

Pathways & Interactions
for STON2 gene

Drugs & Compounds
for STON2 gene

Transcripts
for STON2 gene

Expression
for STON2 gene

Orthologs
for STON2 gene

Paralogs
for STON2 gene

Genomic Variants
for STON2 gene

Disorders / Diseases
for STON2 gene

Publications
for STON2 gene

External Searches for STON2 gene

Genome Databases showing STON2 gene

Other Databases showing STON2 gene

Specialized Databases showing STON2 gene

Intellectual Property
for STON2 gene

Products
for STON2 gene

View Random Gene

Advanced Search

Export list of displayed genes

STON2 Gene

stonin 2

Aliasesfor STON2 gene

Summariesfor STON2 gene

Genomic Viewsfor STON2 gene

Proteinsfor STON2 gene

Protein Domains /Familiesfor STON2 gene

Functionfor STON2 gene

Pathways & Interactionsfor STON2 gene

Drugs & Compoundsfor STON2 gene

Transcriptsfor STON2 gene

Expression for STON2 gene

Orthologsfor STON2 gene

Paralogsfor STON2 gene

Genomic Variantsfor STON2 gene

Disorders / Diseasesfor STON2 gene

Publicationsfor STON2 gene

External Searches for STON2 gene

Genome Databases showing STON2 gene

Other Databases showing STON2 gene

Specialized Databases showing STON2 gene

Intellectual Propertyfor STON2 gene

Productsfor STON2 gene

View Random Gene

Aliases
for STON2 gene

Summaries
for STON2 gene

Genomic Views
for STON2 gene

Proteins
for STON2 gene

Protein Domains /
Families
for STON2 gene

Function
for STON2 gene

Pathways & Interactions
for STON2 gene

Drugs & Compounds
for STON2 gene

Transcripts
for STON2 gene

Expression
for STON2 gene

Orthologs
for STON2 gene

Paralogs
for STON2 gene

Genomic Variants
for STON2 gene

Disorders / Diseases
for STON2 gene

Publications
for STON2 gene

Intellectual Property
for STON2 gene

Products
for STON2 gene