Gene Gene information from NCBI Gene database.
Entrez ID 8417
Gene name Syntaxin 7
Gene symbol STX7
Synonyms (NCBI Gene)
-
Chromosome 6
Chromosome location 6q23.2
Summary The protein encoded by this gene is a syntaxin family membrane receptor involved in vesicle transport. The encoded protein binds alpha-SNAP, an important regulator of transport vesicle fusion. Along with syntaxin 13, this protein plays a role in the order
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs864309676 T>G Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
1129
miRTarBase ID miRNA Experiments Reference
MIRT005199 hsa-miR-30a-5p pSILAC 18668040
MIRT004164 hsa-miR-192-5p Microarray 16822819
MIRT024345 hsa-miR-215-5p Microarray 19074876
MIRT004164 hsa-miR-192-5p Microarray 19074876
MIRT005199 hsa-miR-30a-5p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA
GO:0000149 Function SNARE binding IDA 24550300
GO:0001772 Component Immunological synapse IDA 21438968
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IMP 21438968
GO:0005484 Function SNAP receptor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603217 11442 ENSG00000079950
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15400
Protein name Syntaxin-7
Protein function May be involved in protein trafficking from the plasma membrane to the early endosome (EE) as well as in homotypic fusion of endocytic organelles. Mediates the endocytic trafficking from early endosomes to late endosomes and lysosomes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14523 Syntaxin_2 18 119 Syntaxin-like protein Domain
PF05739 SNARE 201 253 SNARE domain Family
Tissue specificity TISSUE SPECIFICITY: Highest expression is found in placenta followed by heart, skeletal muscle, kidney and brain. Low expression is found in pancreas, lung and liver.
Sequence
MSYTPGVGGDPAQLAQRISSNIQKITQCSVEIQRTLNQLGTPQDSPELRQQLQQKQQYTN
QLAKETDKYIKEFGSLPTTPSEQRQRKIQKDRLVAEFTTSLTNFQKVQRQAAEREKEFV
A
RVRASSRVSGSFPEDSSKERNLVSWESQTQPQVQVQDEEITEDDLRLIHERESSIRQLEA
DIMDINEIFKDLGMMIHEQGDVIDSIEANVENAEVHVQQANQQLSRAADYQRKSRKTLCI
IILILVIGVAIIS
LIIWGLNH
Sequence length 261
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  SNARE interactions in vesicular transport
Autophagy - animal
Phagosome
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of neuronal migration Likely pathogenic rs864309676 RCV000203258
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Hypoalphalipoproteinemias Associate 32541515
Kidney Neoplasms Associate 30075554
Leprosy Associate 38224943
Malformations of Cortical Development Associate 26395554
Nasopharyngeal Carcinoma Associate 32541515
Schizophrenia Associate 15329799