GediPNet logo

STX7 (syntaxin 7)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8417
Gene nameGene Name - the full gene name approved by the HGNC.
Syntaxin 7
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
STX7
SynonymsGene synonyms aliases
-
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q23.2
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs864309676 T>G Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNAmiRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA 21873635
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 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence
MSYTPGVGGDPAQLAQRISSNIQKITQCSVEIQRTLNQLGTPQDSPELRQQLQQKQQYTN
QLAKETDKYIKEFGSLPTTPSEQRQRKIQKDRLVAEFTTSLTNFQKVQRQAAEREKEFV
A
RVRASSRVSGSFPEDSSKERNLVSWESQTQPQVQVQDEEITEDDLRLIHERESSIRQLEA
DIMDINEIFKDLGMMIHEQGDVIDSIEANVENAEVHVQQANQQLSRAADYQRKSRKTLCI
IILILVIGVAIIS
LIIWGLNH
Sequence length 261
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  SNARE interactions in vesicular transport
Autophagy - animal
Phagosome
 
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Infantile spasms Infantile Spasm rs387906686, rs1553579488, rs1553567561 26395554
Unknown
Disease name Disease term dbSNP ID References
Malformation of cortical development Malformations of Cortical Development, Group II 26395554
Neuronal heterotopia Neuronal heterotopia 26395554
Pachygyria Pachygyria 26395554

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412