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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

STX16 Gene

protein-coding   GIFtS: 64
GCID: GC20P057226

syntaxin 16
 Explore 13 diseases affiliated with
STX16 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for STX16    

Aliases
for STX16 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Syntaxin 161 2
SYN161 2 5
Hsyn161
Syntaxin-161
Syn163

External Ids:    HGNC: 114311   Entrez Gene: 86752   Ensembl: ENSG000001242227   OMIM: 6036665   UniProtKB: O146623   
ORGUL members:         
NONCODE:n410692 n410691    

Export aliases for STX16 gene to outside databases

Previous GC identifers: GC20P056955 GC20P057864 GC20P057912 GC20P056659 GC20P054010


Summaries
for STX16 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 STX16:
This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins
are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific
synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has
been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene.
Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1)
gene. (provided by RefSeq, Mar 2011)

UniProtKB/Swiss-Prot: STX16_HUMAN, O14662
Function: SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network

Gene Wiki entry for STX16


Genomic Views
for STX16 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_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the STX16 gene promoter:
         HFH-3   C/EBPbeta   SREBP-1c   Pax-6   Nkx2-5   HNF-3beta   SREBP-1b   C/EBPalpha   FOXI1   SREBP-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: STX16 promoter sequence
   Search SABiosciences Chromatin IP Primers for STX16

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STX16


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

Entrez Gene cytogenetic band: 20q13.32   Ensembl cytogenetic band:  20q13.32   HGNC cytogenetic band: 20q13.32

STX16 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STX16 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P057226:  view genomic region     (about GC identifiers)

Start:
 57,226,328 bp from pter      End:
 57,254,582 bp from pter
Size:
 28,255 bases      Orientation:
 plus strand
ORGUL member locations:
Legend (see complete legend)

  • n410691
  • n410692
57226308 57240445 57254582 chr20

Proteins
for STX16 gene

(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: STX16_HUMAN, O14662 (See protein sequence)
Recommended Name: Syntaxin-16  
Size: 325 amino acids; 37031 Da
Subunit: Interacts with GCC2
Subcellular location: Golgi apparatus membrane; Single-pass type IV membrane protein
Subcellular location: Isoform C: Cytoplasm
Sequence caution: Sequence=AAB69282.1; Type=Frameshift; Positions=142, 163, 165; Sequence=AAB69283.1; Type=Frameshift;
Positions=142, 163, 165; Sequence=AAC05647.1; Type=Frameshift; Positions=142, 163, 165;
Secondary accessions: A6NK32 A6NN69 A8MPP0 B7ZBN1 B7ZBN2 B7ZBN3 E1P5M0 E1P607 O14661 O14663 O60517
Q5W084 Q5W086 Q5W087 Q5XKI6 Q6GMS8 Q9H0Z0 Q9H1T7 Q9H1T8 Q9UIX5
Alternative splicing: 6 isoforms:  O14662-1   O14662-2   O14662-3   O14662-4   O14662-5   O14662-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for STX16: NX_O14662

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14662

    • STX16 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001001433.1  NP_001128244.1  NP_001128245.1  NP_001191797.1  NP_003754.2  

    ENSEMBL proteins: 
     ENSP00000388348   ENSP00000348229   ENSP00000312086   ENSP00000416852   ENSP00000435118  
     ENSP00000352634   ENSP00000360183   ENSP00000437209   ENSP00000432823   ENSP00000360173  
     ENSP00000434369   ENSP00000350723   ENSP00000432414   ENSP00000436667   ENSP00000401801  
     ENSP00000355408   ENSP00000354445   ENSP00000360180   ENSP00000400794  
    Reactome Protein details: O14662
    Human Recombinant Protein Products: 
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    OriGene Purified Protein: STX16
    OriGene Protein Over-expression Lysate (see all 4): STX16
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    Novus Biologicals STX16 Proteins
    Novus Biologicals STX16 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for STX16

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005622intracellular ----
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm TAS9587053
    GO:0005792microsome ----


    STX16 for ontologies           About GeneDecksing



    STX16 Antibody Products: 
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    Uscn ELISAs and CLIAs for STX16

    Protein Domains /
    Families
    for STX16 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    STX16 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR000727 T_SNARE_dom
     IPR010989 t-SNARE
     IPR006011 Syntaxin_N
     IPR006012 Syntaxin/epimorphin_CS

    Graphical View of Domain Structure for InterPro Entry O14662

    ProtoNet protein and cluster: O14662

    1 Blocks protein family: IPB006011 Syntaxin

    UniProtKB/Swiss-Prot: STX16_HUMAN, O14662
    Similarity: Belongs to the syntaxin family
    Similarity: Contains 1 t-SNARE coiled-coil homology domain


    Function
    for STX16 gene

    (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: STX16_HUMAN, O14662
    Function: SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network

    miRNA
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    8/96 QIAGEN miScript miRNA Assays for microRNAs that regulate STX16 (see all 96):
    hsa-miR-582-3p hsa-miR-520e hsa-miR-520f hsa-miR-193a-3p hsa-miR-3152-3p hsa-miR-300 hsa-miR-200a hsa-miR-134
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for STX16 (see all 7)
    OriGene shRNA RFP: STX16
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for STX16

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STX16 (see all 9)
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STX16 

    Cell Line
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    Search LifeMap BioReagents cell lines for STX16

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STX16

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005484SNAP receptor activity IDA15215310
    GO:0005515protein binding IPI18195106


    STX16 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for STX16:
     Decreased cell number  Decreased viability with pacli 

    Animal Models:
         Mouse knock-out Stx16tm1Hju for STX16
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Stx16):
     normal 

    STX16 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for STX16 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 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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Botulinum neurotoxicity
    		Botulinum neurotoxicity1.00
    		Proteolytic cleavage of SNARE complex proteins0.89
    2Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    		Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics1.00
    		SNARE interactions in vesicular transport0.40
    3Disease
    		Disease1.00
    4Transmission across Chemical Synapses
    		Neuronal System0.67
    5Clathrin-dependent protein traffic
    		Transport_Clathrin-coated vesicle cycle0.66

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for STX16
        Transport Clathrin-coated vesicle cycle

    4        Reactome Pathways for STX16
        Proteolytic cleavage of SNARE complex proteins
    Botulinum neurotoxicity
    Neuronal System
    Disease

    1 PharmGKB Pathway for STX16
        Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

    1         Kegg Pathway  (Kegg details for STX16):
        SNARE interactions in vesicular transport


    STX16 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for STX16

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

    5/35 Interacting proteins for STX16 (O146622, 3 ENSP000003601834) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN12Q052092, 3MINT-61774 I2D: score=3 
    VAMP3Q158363, ENSP000000546664I2D: score=3 STRING: ENSP00000054666
    VPS45Q9NRW73, ENSP000003581264I2D: score=2 STRING: ENSP00000358126
    VTI1AQ96AJ93, ENSP000003767924I2D: score=1 STRING: ENSP00000376792
    STX6O437523, ENSP000002583014I2D: score=2 STRING: ENSP00000258301
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0006891intra-Golgi vesicle-mediated transport TAS9464276
    GO:0016192vesicle-mediated transport ----
    GO:0042147retrograde transport, endosome to Golgi IDA15215310


    STX16 for ontologies           About GeneDecksing



    Drugs & Compounds
    for STX16 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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for STX16
    Search CenterWatch for drugs/clinical trials and news about STX16 

    Transcripts
    for STX16 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 STX16 gene (6 alternative transcripts): 
    NM_001001433.2  NM_001134772.2  NM_001134773.2  NM_001204868.1  NM_003763.5  NM_001001434.1  

    Unigene Cluster for STX16:

    Syntaxin 16
    Hs.307913  [show with all ESTs]
    Unigene Representative Sequence: NM_001001433
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000458280 ENST00000355957(uc002xzk.3 uc002xzl.3) ENST00000312283
    ENST00000412911 ENST00000460655 ENST00000359617 ENST00000371141(uc021wfi.1 uc002xzi.3 uc010zzq.2 uc002xzm.3)
    ENST00000476384 ENST00000483434 ENST00000496117 ENST00000490700 ENST00000371132
    ENST00000496003 ENST00000467096 ENST00000358029 ENST00000464640 ENST00000493301
    ENST00000468590

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat STX16
    8/96 QIAGEN miScript miRNA Assays for microRNAs that regulate STX16 (see all 96):
    hsa-miR-582-3p hsa-miR-520e hsa-miR-520f hsa-miR-193a-3p hsa-miR-3152-3p hsa-miR-300 hsa-miR-200a hsa-miR-134
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for STX16 (see all 7)
    OriGene shRNA RFP: STX16
    OriGene siRNA: STX16
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STX16
    Clone
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    Primer
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    Additional cDNA sequence: 

    AF008935.1 AF008936.1 AF038897.1 AF305817.1 AK026970.1 AK026974.1 AK296282.1 AK304867.1 
    AK316547.1 AL359056.1 BC019042.2 BC073876.1 DQ268529.1 DQ272217.1 NR_037941.1 NR_037942.1 
    NR_037943.1 

    19 DOTS entries:

    DT.120836120  DT.97800972  DT.91774531  DT.111277  DT.92066401  DT.91774526  DT.120836141  DT.95281620 
    DT.120836231  DT.97842890  DT.100775145  DT.120836201  DT.91774518  DT.91798220  DT.99977534  DT.102827908 
    DT.120836131  DT.451747  DT.91774533 

    24/484 AceView cDNA sequences (see all 484):

    AA291733 AI276677 BC020507 BU844980 BF725677 BE937267 BC019042 CF528596 
    AI699125 AI356379 BG149517 BE856414 AI468704 BU737996 BQ229292 BQ669280 
    AA394172 AW172483 NM_001001434 BQ015638 AA988565 CB960198 BE147200 BQ015099 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for STX16 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d
    SP1:        -     -                 -                 -                                                                     
    SP2:                          -     -                 -                                                                     
    SP3:                                                  -           -                                                         
    SP4:                                                  -                             -     -                                 
    SP5:                                                  -           -                                                         


    ECgene alternative splicing isoforms for STX16

    Expression
    for STX16 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

    STX16 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTGTGAAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See STX16 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for STX16

    SOURCE GeneReport for Unigene cluster: Hs.307913

    UniProtKB/Swiss-Prot: STX16_HUMAN, O14662
    Tissue specificity: Ubiquitous

        SABiosciences Custom PCR Arrays for STX16
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    In Situ
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    Orthologs
    for STX16 gene

    (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 STX16 gene from 9/34 species (see all 34)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves STX161 syntaxin 16 81.46(n)
    88.44(a)    		   419315  NM_001006295.1  NP_001006295.1 
    lizard
    (Anolis carolinensis)    		 Reptilia STX166
    		 --
    		 84(a)
    		 1 → many
    		 GL343475.1(154199-169514)
    African clawed frog
    (Xenopus laevis)    		 Amphibia MGC690902 hypothetical protein MGC69090 77.14(n)    BC059338.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii stx161 syntaxin 16 73.48(n)
    79.87(a)    		   562857  XM_002662535.1  XP_002662581.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Syx161 Syntaxin 16 51.97(n)
    43.75(a)    		   33034  NM_078696.2  NP_523420.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea syn-161 Protein SYN-16 44.7(n)
    35.43(a)    		   175712  NM_065704.2  NP_498105.1 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes TLG2(YOL018C)4
    TLG21    		 Syntaxin-like t-SNARE that forms a complex with Tlg1p and Vti1p and mediates fusion of endosome-derived vesicles with the late Golgi; binds Vps45p, which prevents Tlg2p degradation and also facilitates t-SNARE complex formation; homologous to mammalian SNARE protein syntaxin 16 (Sx16) less4
    Tlg2p1    		 44.35(n)1
    29.29(a)1    		   15(292074-290881)4
    8541421, 4  NP_014624.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons SYP411 syntaxin-41 46.42(n)
    35.31(a)    		   832756  NM_001036873.1  NP_001031950.1 
    rice
    (Oryza sativa)    		 Liliopsida Os06g01163001 hypothetical protein 46.43(n)
    36.61(a)    		   4339929  NM_001063154.2  NP_001056619.2 


    ENSEMBL Gene Tree for STX16 (if available)
    TreeFam Gene Tree for STX16 (if available) 

    Paralogs
    for STX16 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for STX16 gene
    STX16-NPEPL12  
    3 SIMAP similar genes for STX16 using alignment to 13 protein entries:     STX16_HUMAN (see all proteins):
    STX16-NPEPL1    STX1B    STX3

    STX16 for paralogs           About GeneDecksing



    Genomic Variants
    for STX16 gene

    (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

    10/504 NCBI SNPs in STX16 are shown (see all 504)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs60646901,2
    		C,H--54009896(+) AGCCCC/TTGCAC 8 -- us2k12Minor allele frequency- T:0.01NS NA 220
    rs60264251,2
    		C--54010024(+) GCCCAG/AGCAGG 8 -- us2k11Minor allele frequency- A:0.00NA 2
    rs60264261,2
    		C,--54010507(+) CAGGCC/GTGCTC 8 -- us2k13Minor allele frequency- G:0.15NA WA 240
    rs60264271,2
    		C,F,A,H,--54010521(+) GGCCTG/TCTCCT 8 -- us2k18Minor allele frequency- T:0.13NS NA WA 1084
    rs784967331,2
    		C,--54010671(+) CGCAGG/CGGGGC 8 -- us2k12Minor allele frequency- C:0.10NA 122
    rs60264281,2
    		F,A,H,--54010747(+) AACGGT/CCCGGG 8 -- ut51 nc-transcript-variant5Minor allele frequency- C:0.08NS EA WA 536
    rs412962051,2
    		C,--54011141(+) CCAGTC/ATAGAG 8 -- ut51 int1 nc-transcript-variant2Minor allele frequency- A:0.10NA 122
    rs72740261,2
    		C,F,H,--54012374(+) ACAACC/ATTTAG 8 -- int15Minor allele frequency- A:0.00NS EA NA 398
    rs762880571,2
    		--54014264(+) TATTAG/CAGATG 8 -- int12Minor allele frequency- C:0.15CSA WA 120
    rs800657041,2
    		--54014300(+) TGTCAA/GGGCAT 8 -- int10--------

    HapMap Linkage Disequilibrium report for STX16 (57226328 - 57254582 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for STX16
         1 CNV: 79251
    Human Gene Mutation Database (HGMD): STX16

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing STX16
    DNA2.0 Custom Variant and Variant Library Synthesis for STX16

    Disorders / Diseases
    for STX16 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    STX16 for disorders           About GeneDecksing

    OMIM gene information: 603666   
    OMIM disorders: 603233  
    UniProtKB/Swiss-Prot: STX16_HUMAN, O14662
  • Genetic variations in STX16 may be a cause of pseudohypoparathyroidism type 1B (PHP1B) [MIM:603233].
    • Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by resistance to parathyroid
    hormone (PTH). PHP1B is characterized by PTH-resistant hypocalcemia and hyperphosphatemia. Patients affected with
    PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other
    endocrine abnormalities besides resistance to PTH. In some cases microdeletions involving STX16 appear to cause loss
    of methylation at exon A/B of the GNAS gene, resulting in PHP1B

    13 diseases for STX16:    About MalaCards
    pseudohypoparathyroidism type ib    pseudohypoparathyroidism    pseudohypoparathyroidism type 1b    albright's hereditary osteodystrophy
    osteosclerosis    hyperphosphatemia    hypocalcemia    brachydactyly
    cystic fibrosis    cholera    fibrosis    malaria
    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for STX16:
    Pseudohypoparathyroidism     Hyperphosphatemia

    2 Novoseek disease relationships for STX16 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudohypoparathyroidism, type ib 95.3 3 15800843 (2), 17317779 (1)
    cholera 34 1 17389686 (1)


    Export disorders for STX16 gene to outside databases

    Publications
    for STX16 gene

    (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 STX16 gene, integrated from 9 sources (see all 39):
    (articles sorted by number of sources associating them with STX16)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. (PubMed id 15800843)1, 2, 3, 9 Linglart A.... Bastepe M. (2005)
    2. Molecular cloning and localization of human syntaxin 16, a member of the syntaxin family of SNARE proteins. (PubMed id 9464276)1, 2, 3, 9 Tang B.L.... Ho W. (1998)
    3. Syntaxin-16, a putative Golgi t-SNARE. (PubMed id 9587053)1, 2, 3, 9 Simonsen A....Stenmark H. (1998)
    4. A syntaxin 10-SNARE complex distinguishes two distinct transport routes from endosomes to the trans-Golgi in human cells. (PubMed id 18195106)1, 2 Ganley I.G....Pfeffer S.R. (2008)
    5. 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)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    7. Syntaxin 16 and syntaxin 5 are required for efficient retrograde transport of several exogenous and endogenous cargo proteins. (PubMed id 17389686)1, 9 Amessou M....Johannes L. (2007)
    8. Participation of the syntaxin 5/Ykt6/GS28/GS15 SNARE complex in transport from the early/recycling endosome to the trans-Golgi network. (PubMed id 15215310)1, 9 Tai G.... Hong W. (2004)
    9. Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network. (PubMed id 19620288)1, 9 PAcrez-Victoria F.J. and Bonifacino J.S. (2009)
    10. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. (PubMed id 14561710)2, 9 Bastepe M.... Jueppner H. (2003)

    External Searches for STX16 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing STX16 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8675 HGNC: 11431 AceView: STX16andNPEPL1 Ensembl:ENSG00000124222 euGenes: HUgn8675
    ECgene: STX16 Kegg: 8675 H-InvDB: STX16

    Other Databases showing STX16 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing STX16 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
    NameDescription
    PharmGKB entry for STX16 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for STX16 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for STX16 gene:
    Search GeneIP for patents involving STX16

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



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