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STX11 (syntaxin 11)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8676
Gene nameGene Name - the full gene name approved by the HGNC.
Syntaxin 11
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
STX11
SynonymsGene synonyms aliases
FHL4, HLH4, HPLH4
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q24.2
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutation
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104893996 C>T Pathogenic Coding sequence variant, genic downstream transcript variant, stop gained
rs397725572 ->A Conflicting-interpretations-of-pathogenicity 3 prime UTR variant, genic downstream transcript variant
rs431905512 T>C Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, genic downstream transcript variant
rs483352901 AGTGGCGC>TGG Pathogenic Frameshift variant, coding sequence variant, genic downstream transcript variant
rs794729649 C>T Likely-pathogenic Genic downstream transcript variant, stop gained, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002522 hsa-miR-373-3p Microarray 15685193
MIRT483556 hsa-miR-136-3p PAR-CLIP 20371350
MIRT483555 hsa-miR-5188 PAR-CLIP 20371350
MIRT483554 hsa-miR-3185 PAR-CLIP 20371350
MIRT483553 hsa-miR-15b-3p PAR-CLIP 20371350
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:0005484 Function SNAP receptor activity IBA 21873635
GO:0005515 Function Protein binding IPI 16189514, 19804848, 21900206, 24722188, 25416956, 25910212, 26871637, 28514442, 30886144, 32296183, 32814053
GO:0005794 Component Golgi apparatus IEA
GO:0005886 Component Plasma membrane IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID O75558
Protein name Syntaxin-11
Protein function SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00804 Syntaxin
41 239
Syntaxin
Domain
Sequence
Sequence length 287
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  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Hemophagocytic lymphohistiocytosis Hemophagocytic lymphohistiocytosis, familial, 4, Familial hemophagocytic lymphohistiocytosis rs796065024, rs796065025, rs796065026, rs777759523, rs121434352, rs201908137, rs121434353, rs121434354, rs483352901, rs104893996, rs121918540, rs1599398298, rs121918541, rs1599395085, rs2146217813, rs104894176, rs104894180, rs28933973, rs104894181, rs104894182, rs104894183, rs28933376, rs771552960, rs786205093, rs193302876, rs61736587, rs431905512, rs794729649, rs751161742, rs751247865, rs766657895, rs140148806, rs747169857, rs1060499556, rs764196809, rs1555601863, rs1555600214, rs754621494, rs1555768979, rs578092914, rs147035858, rs189650890, rs752858869, rs147462227, rs1554867753, rs754882266, rs959968589, rs1555601754, rs1555769166, rs773360200, rs768849283, rs1564723653, rs763117746, rs1567818774, rs1567816070, rs1278701043, rs1567818219, rs1568463402, rs1564724291, rs1274685768, rs776571416, rs201032696, rs1157287613, rs141717050, rs1165696705, rs1388957809, rs765034513, rs1589233357, rs910650073, rs933702160, rs1584062332, rs200430442, rs776299562, rs1599414759, rs1848204643, rs1442964152, rs2064936948, rs1041960684, rs921624651, rs2064960126, rs143184345 26176172
Hypofibrinogenemia Hypofibrinogenemia rs121913087, rs121913088, rs587776837, rs121909616, rs121909625, rs121909608, rs121909607, rs146387238, rs1578795296, rs1214070111, rs776817952, rs762964798, rs121909606, rs1414035000, rs1310452604
Neutropenia Neutropenia rs879253882
Unknown
Disease name Disease term dbSNP ID References
Fibrinogen deficiency Fibrinogen Deficiency
Histiocytosis haematophagic Histiocytosis haematophagic

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