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Aliases for STX12 Gene

Aliases for STX12 Gene

  • Syntaxin 12 2 3 5
  • Syntaxin-12 3
  • STX13 3
  • STX14 3

External Ids for STX12 Gene

Previous GeneCards Identifiers for STX12 Gene

  • GC01M027314
  • GC01P027073
  • GC01P027332
  • GC01P027704
  • GC01P027968
  • GC01P028099
  • GC01P026355

Summaries for STX12 Gene

GeneCards Summary for STX12 Gene

STX12 (Syntaxin 12) is a Protein Coding gene. Diseases associated with STX12 include Frontotemporal Dementia. Among its related pathways are Delta508-CFTR traffic / Sorting endosome formation in CF and Delta508-CFTR traffic / ER-to-Golgi in CF. Gene Ontology (GO) annotations related to this gene include SNARE binding and SNAP receptor activity. An important paralog of this gene is STX7.

UniProtKB/Swiss-Prot for STX12 Gene

  • SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. The SNARE complex containing STX6, STX12, VAMP4 and VTI1A mediates vesicle fusion (in vitro) (By similarity). Through complex formation with GRIP1, GRIA2 and NSG1 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity).

Gene Wiki entry for STX12 Gene

Additional gene information for STX12 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STX12 Gene

Genomics for STX12 Gene

GeneHancer (GH) Regulatory Elements for STX12 Gene

Promoters and enhancers for STX12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I027771 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 553.4 +0.2 182 3.4 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ZNF213 STX12 ENSG00000269971 GMEB1 ACTG1P20 RNU6-1245P PPP1R8 SCARNA1 FAM76A ENSG00000231344 PHACTR4
GH01I027658 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 7.8 -111.9 -111931 6.3 HDGF PKNOX1 SMAD1 ARID4B E2F8 ZNF207 ZNF143 FOS DEK SP3 LINC02574 FGR GPN2 ACTG1P20 THEMIS2 ARID1A TRNAU1AP STX12 EYA3 XKR8
GH01I027829 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 7.3 +58.4 58372 3.7 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A ZNF2 YY1 POLR2B PPP1R8 YTHDF2 GMEB1 SNORA73B SNHG12 SNHG3 TRNAU1AP WASF2 RCC1 STX12
GH01I027685 Enhancer 1.2 FANTOM5 Ensembl ENCODE 11.2 -85.1 -85081 6 SIN3A BATF RAD21 ZNF366 ATF7 RCOR1 IKZF2 RUNX3 CBFB NR2F2 CHMP1AP1 FAM76A STX12 RNU6-1245P SCARNA1 PPP1R8 ACTG1P20 RNU6-48P TMEM222 ENSG00000270605
GH01I027614 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.1 -147.3 -147345 23.4 HDGF PKNOX1 FOXA2 SMAD1 SIN3A YBX1 IRF4 ZNF121 ZNF207 ZNF143 FGR ACTG1P20 ARID1A EYA3 FAM76A TRNAU1AP NPM1P39 THEMIS2 PTAFR SNHG12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around STX12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the STX12 gene promoter:

Genomic Locations for STX12 Gene

Genomic Locations for STX12 Gene
chr1:27,773,183-27,824,452
(GRCh38/hg38)
Size:
51,270 bases
Orientation:
Plus strand
chr1:28,099,694-28,150,963
(GRCh37/hg19)

Genomic View for STX12 Gene

Genes around STX12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STX12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STX12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STX12 Gene

Proteins for STX12 Gene

  • Protein details for STX12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86Y82-STX12_HUMAN
    Recommended name:
    Syntaxin-12
    Protein Accession:
    Q86Y82
    Secondary Accessions:
    • B1AJQ7
    • O95564

    Protein attributes for STX12 Gene

    Size:
    276 amino acids
    Molecular mass:
    31642 Da
    Quaternary structure:
    • Interacts with NAPA and SNAP23. Identified in a complex containing STX6, STX12, VAMP4 and VTI1A (By similarity). Associates with the BLOC-1 complex (PubMed:19546860). Interacts with BLOC1S6 (PubMed:19546860). Interacts with GRIPAP1 (By similarity). Forms a complex with GRIP1, GRIA2 and NSG1; controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting. Interacts with NSG1 (By similarity).
    SequenceCaution:
    • Sequence=CAA22911.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for STX12 Gene

neXtProt entry for STX12 Gene

Post-translational modifications for STX12 Gene

  • Ubiquitination at isoforms=44 and posLast=5858

Other Protein References for STX12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for STX12 Gene

Domains & Families for STX12 Gene

Gene Families for STX12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for STX12 Gene

Suggested Antigen Peptide Sequences for STX12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86Y82

UniProtKB/Swiss-Prot:

STX12_HUMAN :
  • Belongs to the syntaxin family.
Family:
  • Belongs to the syntaxin family.
genes like me logo Genes that share domains with STX12: view

Function for STX12 Gene

Molecular function for STX12 Gene

UniProtKB/Swiss-Prot Function:
SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. The SNARE complex containing STX6, STX12, VAMP4 and VTI1A mediates vesicle fusion (in vitro) (By similarity). Through complex formation with GRIP1, GRIA2 and NSG1 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity).

Phenotypes From GWAS Catalog for STX12 Gene

Gene Ontology (GO) - Molecular Function for STX12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA --
GO:0005484 SNAP receptor activity IBA --
GO:0005515 protein binding IPI 12191018
genes like me logo Genes that share ontologies with STX12: view
genes like me logo Genes that share phenotypes with STX12: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for STX12 Gene

Localization for STX12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STX12 Gene

Endosome membrane; Single-pass type IV membrane protein. Golgi apparatus membrane; Single-pass type IV membrane protein. Endomembrane system; Single-pass type IV membrane protein; Cytoplasmic side. Early endosome membrane; Single-pass type IV membrane protein. Recycling endosome membrane; Single-pass type IV membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STX12 gene
Compartment Confidence
extracellular 5
golgi apparatus 4
endosome 4
cytosol 3
nucleus 2
plasma membrane 1
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleoplasm (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STX12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0000407 phagophore assembly site IMP 24095276
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IEA --
GO:0010008 endosome membrane IEA --
genes like me logo Genes that share ontologies with STX12: view

Pathways & Interactions for STX12 Gene

genes like me logo Genes that share pathways with STX12: view

Gene Ontology (GO) - Biological Process for STX12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IMP 24095276
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IBA --
GO:0006906 vesicle fusion IBA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with STX12: view

No data available for SIGNOR curated interactions for STX12 Gene

Drugs & Compounds for STX12 Gene

No Compound Related Data Available

Transcripts for STX12 Gene

Unigene Clusters for STX12 Gene

Syntaxin 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for STX12 Gene

No ASD Table

Relevant External Links for STX12 Gene

GeneLoc Exon Structure for
STX12
ECgene alternative splicing isoforms for
STX12

Expression for STX12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for STX12 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for STX12 Gene



Protein tissue co-expression partners for STX12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STX12 Gene:

STX12

SOURCE GeneReport for Unigene cluster for STX12 Gene:

Hs.523855

Evidence on tissue expression from TISSUES for STX12 Gene

  • Nervous system(4.9)
  • Intestine(4.3)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with STX12: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for STX12 Gene

Orthologs for STX12 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for STX12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STX12 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia STX12 33
  • 93.67 (n)
cow
(Bos Taurus)
Mammalia STX12 33 34
  • 93.07 (n)
mouse
(Mus musculus)
Mammalia Stx12 33 16 34
  • 91.44 (n)
rat
(Rattus norvegicus)
Mammalia Stx12 33
  • 90.4 (n)
oppossum
(Monodelphis domestica)
Mammalia STX12 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STX12 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves STX12 33 34
  • 78.61 (n)
lizard
(Anolis carolinensis)
Reptilia STX12 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stx12 33
  • 71.87 (n)
Str.17795 33
zebrafish
(Danio rerio)
Actinopterygii stx12 33 34
  • 69.21 (n)
stx12l 34
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Syx7 34
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea syx-7 33 34
  • 48.75 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP12 34 36
  • 20 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pep12 33
  • 46.62 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06777 33
  • 42.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToMany
Species where no ortholog for STX12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for STX12 Gene

ENSEMBL:
Gene Tree for STX12 (if available)
TreeFam:
Gene Tree for STX12 (if available)

Paralogs for STX12 Gene

Paralogs for STX12 Gene

(2) SIMAP similar genes for STX12 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with STX12: view

Variants for STX12 Gene

Sequence variations from dbSNP and Humsavar for STX12 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
VAR_035643 A breast cancer sample p.Pro88Arg
rs1000021133 -- 27,777,212(+) C/T intron_variant
rs1000058975 -- 27,776,086(+) A/C intron_variant
rs1000191154 -- 27,816,034(+) C/T intron_variant
rs1000216018 -- 27,795,394(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for STX12 Gene

Variant ID Type Subtype PubMed ID
nsv947419 CNV duplication 23825009
nsv509069 CNV insertion 20534489
esv3585563 CNV loss 21293372

Variation tolerance for STX12 Gene

Residual Variation Intolerance Score: 46% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.58; 12.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STX12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
STX12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STX12 Gene

Disorders for STX12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for STX12 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
frontotemporal dementia
  • ftd
- elite association - COSMIC cancer census association via MalaCards
Search STX12 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for STX12

genes like me logo Genes that share disorders with STX12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for STX12 Gene

Publications for STX12 Gene

  1. Syntaxin 12, a member of the syntaxin family localized to the endosome. (PMID: 9507000) Tang BL … Hong W (The Journal of biological chemistry 1998) 2 3 22 58
  2. The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth. (PMID: 19546860) Ghiani CA … Dell'Angelica EC (Molecular psychiatry 2010) 3 4 58
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for STX12 Gene

Sources for STX12 Gene

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