SNX3 Gene
protein-coding GIFtS : 60
GCID: GC06 M108578
sorting nexin 3
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Aliasesfor SNX3 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Sorting Nexin 3 1 2 Sorting Nexin 3A2 Grd191 2 Sorting Nexin-32 MCOPS82 Protein SDP33 SDP32
Export aliases for SNX3 gene to outside databases Previous GC identifers: GC06M108382 GC06M108555 GC06M108639 GC06M106100
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Summariesfor SNX3 gene (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 SNX3 : This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: SNX3_HUMAN, O60493 Function : Phosphoinositide-binding protein required for multivesicular body formation. Specifically bindsphosphatidylinositol 3-phosphate (PtdIns(P3)). Plays a role in protein transport between cellular compartments. Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (By similarity). Not involved in EGFR degradation Gene Wiki entry for SNX3
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Viewsfor SNX3 gene
(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_000006.11 NC_018917.1 NT_025741.15 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SNX3 gene promoter: C/EBPbeta Pax-6 Nkx2-5 LCR-F1 RORalpha2 MEF-2A GCNF-1 c-Myb aMEF-2 GCNF-2 Other transcription factors Search SABiosciences Chromatin IP Primers for SNX3 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNX3
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 6q21 Ensembl cytogenetic band: 6q21 HGNC cytogenetic band: 6q21 SNX3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 6 GeneLoc Exon Structure
GeneLoc location for GC06M108578: view genomic region
(about GC identifiers )
Start:
108,532,426 bp from pter
End:
108,582,464 bp from pter
Size:
50,039 bases
Orientation:
minus strand
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Proteinsfor SNX3 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: SNX3_HUMAN, O60493 (See
protein sequence )Recommended Name: Sorting nexin-3 Size : 162 amino acids; 18762 Da
Subunit : Interacts with USP10 and SCNN1A (By similarity)
Subcellular location : Early endosome
Secondary accessions : A8K0B1 E1P5E4 E1P5E5 O60718 Q4TT29 Q4TT31 Q5JXJ7 Q5JXJ8 Q96AP9 Q9C0J5 Q9NU45Alternative splicing : 4 isoforms : O60493-1 O60493-2 O60493-3 O60493-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for SNX3: NX_O60493 Post-translational modifications:
Ubiquitinated, leading to its proteasomal degradation. Deubiquitinated by USP10 (By similarity)1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_O60493 SNX3 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (2 alternative transcripts):
NP_003786.1 NP_690040.1 ENSEMBL proteins: ENSP00000230085 ENSP00000401779 ENSP00000357975 ENSP00000296991 ENSP00000357978 Human Recombinant Protein Products: Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view) : About this table
SNX3 for ontologies About GeneDecksing SNX3 Antibody Products: Assay Products for SNX3:
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Protein
Domains / Familiesfor SNX3 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
SNX3 for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry O60493 ProtoNet protein and cluster: O60493
1 Blocks protein family : IPB001683 Phox-like UniProtKB/Swiss-Prot: SNX3_HUMAN, O60493 Domain : The PX domain mediates specific binding to phosphatidylinositol 3-phosphate (PtdIns(P3))Similarity : Belongs to the sorting nexin familySimilarity : Contains 1 PX (phox homology) domain
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Functionfor SNX3 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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: SNX3_HUMAN, O60493 Function : Phosphoinositide-binding protein required for multivesicular body formation. Specifically bindsphosphatidylinositol 3-phosphate (PtdIns(P3)). Plays a role in protein transport between cellular compartments. Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (By similarity). Not involved in EGFR degradation
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 SNX3 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SNX3 (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): SNX3 (NM_152827 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SNX3 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SNX3
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNX3
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view) : About this table
SNX3 for ontologies About GeneDecksing 1 GenomeRNAi human phenotype for SNX3 :
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Pathways & Interactionsfor SNX3 gene
(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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SNX3 STRING Interaction
Network Preview (showing 5 interactants - click image to see 18)5/24 Interacting proteins for SNX3 (O60493 1 , 2 , 3 ENSP00000230085 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 24 )About this table Gene Ontology (GO): 3 biological process terms (GO ID links to tree view) : About this table
SNX3 for ontologies About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Drugs & Compoundsfor SNX3 gene (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 Browse Tocris compounds for SNX3 1 DrugBank Compound for SNX3 About this table Search CenterWatch for drugs/clinical trials and news about SNX3
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Transcriptsfor SNX3 gene (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 SNX3 gene (3 alternative transcripts): NM_003795.4 NM_152827.2 NM_152828.2 Unigene Cluster for SNX3:
Sorting nexin 3 Hs.12102 [show with all ESTs ] Unigene Representative Sequence: AK289476 5 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000230085 (uc003psh.3 uc003psi.3 ) ENST00000426155 ENST00000368979 (uc010kdi.3 )ENST00000349379 ENST00000368982 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SNX3 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SNX3 (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): SNX3 (NM_152827 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SNX3 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SNX3
Additional cDNA sequence: AB047360.1 AF034546.1 AF062483.1 AK289476.1 BC008444.1 BC014580.1 BC015179.1 BT007114.1 CR456898.1
19 DOTS entries : DT.100059527 DT.449260
DT.100842483 DT.100842485 DT.100842486 DT.92453477 DT.100842475 DT.100894403 DT.95105957 DT.95105958 DT.101984531 DT.92453479 DT.95105994 DT.100649270 DT.100842478 DT.91650235 DT.100842484 DT.91995498 DT.92409179 24/586 AceView cDNA sequences (see all 586 ):
CR601831 BQ771652 BM721206 T30797 CR606126 AA902239 CD101909 AI690547 BM997473 CD106303 AA632399 AI912286 CA428996 CN484993 AA594630 CD676800 BQ421684 BG779096 CF527981 BI711394 AV713101 BM761664 BU619247 BG393533 GeneLoc Exon Structure 5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SNX3 (see all 6 ) About this scheme ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e SP1 :     -                   SP2 :         -               SP3 :   -   -     -               SP4 :     -     -               SP5 :     -     -   -            
ECgene alternative splicing isoforms for SNX3
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Expression for SNX3 gene
(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 SNX3 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GAAGATTAAT
About this image SNX3 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See SNX3 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SNX3 SOURCE GeneReport for Unigene cluster: Hs.12102 SABiosciences Custom PCR Arrays for SNX3 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SNX3Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat SNX3 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SNX3 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SNX3 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNX3
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Orthologsfor SNX3 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals and fungi.
Orthologs for SNX3 gene from 7/28 species (see all 28 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
SNX31
sorting nexin 3
83.64(n) 94.41(a)
 
421772 NM_001006408.1 NP_001006408.1
lizard (Anolis carolinensis)
Reptilia
SNX36
--
94(a)
1 ↔ 1
1(190430245-190451069)
African clawed frog (Xenopus laevis)
Amphibia
MGC685802
hypothetical protein MGC68580
79.34(n)
 
BC060460.1
zebrafish (Danio rerio)
Actinopterygii
snx31
sorting nexin 3
74.28(n) 88.27(a)
 
563511 NM_001037106.1 NP_001032183.1
fruit fly (Drosophila melanogaster)
Insecta
CG63593
intracellular protein transport
70(a)
 
87C3 --
worm (Caenorhabditis elegans)
Secernentea
W06D4.53
PhoX homologous domain, present in p47phox and more
66(a)
 
I(9071506-9072611) --
baker's yeast (Saccharomyces cerevisiae)
Saccharomycetes
SNX3(YOR357C)4 SNX31
Sorting nexin required to maintain late-Golgi resident more 4 Snx3p1
53.55(n) 1 51.64(a) 1
 
15(1009712-1009224) 4 854539 1, 4 NP_015002.3 1 NP_015002.1 4
ENSEMBL Gene Tree for SNX3 (if available)TreeFam Gene Tree for SNX3 (if available)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Paralogsfor SNX3 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for SNX3 gene SNX10 2 SNX11 2 SNX12 2 6 SIMAP similar genes for SNX3 using alignment to 1 protein entry: SNX3_HUMAN :SNX12 SNX1 SNX11 SNX30 SNX2 SNX10
SNX3 for paralogs About GeneDecksing 2 Pseudogenes.org Pseudogenes for SNX3 PGOHUM00000241445 PGOHUM00000233673
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Variantsfor SNX3 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 6 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for SNX3 (108532426 - 108582464 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for SNX3 1 CNV : 4505 Human Gene Mutation Database (HGMD) : SNX3 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SNX3
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Disorders
/ Diseasesfor SNX3 gene
(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
SNX3 for disorders About GeneDecksing
OMIM gene information: 605930
OMIM disorders : --UniProtKB/Swiss-Prot: SNX3_HUMAN, O60493
A chromosomal aberration involving SNX3 may be a cause of microphthalmia syndromic type 8 (MCOPS8) [MIM:601349]. Translocation t(6;13)(q21;q12). Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS8 is a very rare congenital syndrome characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported 6 diseases for SNX3 : About MalaCards cleft lip/palate cleft lip ectrodactyly anophthalmia microphthalmia microcephaly 2 diseases from the University of Copenhagen DISEASES database for SNX3 :Microphthalmia Microcephaly Human Genome Epidemiology (HuGE) Navigator: SNX3 (3 documents) Export disorders for SNX3 gene to outside databases
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Publicationsfor SNX3 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for SNX3 gene, integrated from 9 sources (see all 35 ): (articles sorted by number of sources associating them with SNX3) Utopia : connect your pdf to the dynamic world of online information
Identification of a family of sorting nexin molecules and characterization of their association with receptors. (PubMed id 9819414) 1 , 2 , 3, 9 Haft C.R.... Taylor S.I. (1998) Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. (PubMed id 12471201) 1 , 2 , 9 Vervoort V.S.... Schwartz C.E. (2002) Hrs and SNX3 functions in sorting and membrane invagination within multivesicular bodies. (PubMed id 18767904) 1 , 2 Pons V....Gruenberg J. (2008) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 1 , 2 Olsen J.V....Mann M. (2006) 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 6. (PubMed id 14574404) 1 , 2 Mungall A.J.... Beck S. (2003) Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801) 1 , 2 Gevaert K.... Vandekerckhove J. (2003) SNX3 regulates endosomal function through its PX-domain-mediated interaction with PtdIns(3)P. (PubMed id 11433298) 1 , 2 Xu Y....Hong W. (2001) Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes. (PubMed id 17655765) 1 , 9 Kumar R.A....Simpson E.M. (2007) Vasopressin-inducible ubiquitin-specific protease 10 increases ENaC cell surface expression by deubiquitylating and stabilizing sorting nexin 3. (PubMed id 18632802) 1 , 9 Boulkroun S....Staub O. (2008)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
External Searches for SNX3 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genome Databases showing SNX3 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Other Databases showing SNX3 gene
(According to HUGE )
About This Section --
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Specialized Databases showing SNX3 gene (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 SNX3 Pharmacogenomics, SNPs, Pathways
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
About This Section Patent Information for SNX3 gene: Search GeneIP for patents involving SNX3 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Productsfor SNX3 gene (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 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , 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 About This Section
Browse OriGene Antibodies OriGene shRNA RFP for SNX3 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for SNX3 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SNX3 OriGene Protein Over-expression Lysate for SNX3 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for SNX3 OriGene 3'-UTR Clone for SNX3 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SNX3 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SNX3 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 OriGene Purified Protein for SNX3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for SNX3 OriGene Custom Protein Services for SNX3 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SNX3 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SNX3 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNX3 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat SNX3 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SNX3 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SNX3
Search Tocris compounds for SNX3
Recombinant Protein for SNX3
SNX3 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNX3
Search ThermoFisher Antibodies for SNX3
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SNX3
Jump to Section...
Aliases for SNX3
Databases for SNX3
Disorders / Diseases for SNX3
Domains / Families for SNX3
Drugs / Compounds for SNX3
Expression for SNX3
Function for SNX3
Genomic Views for SNX3
Intellectual Property for SNX3
Orthologs for SNX3
Paralogs for SNX3
Pathways / Interactions for SNX3
Products for SNX3
Proteins for SNX3
Publications for SNX3
Search Box for SNX3
Summaries for SNX3
Transcripts for SNX3
Variants for SNX3
TOP
BOTTOM