Gene Gene information from NCBI Gene database.
Entrez ID 6810
Gene name Syntaxin 4
Gene symbol STX4
Synonyms (NCBI Gene)
DFNB123STX4Ap35-2
Chromosome 16
Chromosome location 16p11.2
miRNA miRNA information provided by mirtarbase database.
178
miRTarBase ID miRNA Experiments Reference
MIRT031473 hsa-miR-16-5p Proteomics 18668040
MIRT050473 hsa-miR-22-3p CLASH 23622248
MIRT694836 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT694835 hsa-miR-106b-5p HITS-CLIP 23313552
MIRT694834 hsa-miR-17-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
83
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA
GO:0000149 Function SNARE binding IEA
GO:0000322 Component Storage vacuole IEA
GO:0002639 Process Positive regulation of immunoglobulin production IMP 24055037
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
186591 11439 ENSG00000103496
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12846
Protein name Syntaxin-4 (Renal carcinoma antigen NY-REN-31)
Protein function Plasma membrane t-SNARE that mediates docking of transport vesicles (By similarity). Necessary for the translocation of SLC2A4 from intracellular vesicles to the plasma membrane (By similarity). In neurons, recruited at neurite tips to membrane
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00804 Syntaxin 39 235 Syntaxin Domain
PF05739 SNARE 236 293 SNARE domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in neutrophils and neutrophil-differentiated HL-60 cells. Expression in neutrophils increases with differentiation. {ECO:0000269|PubMed:10080545}.
Sequence
Sequence length 297
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  SNARE interactions in vesicular transport
Vasopressin-regulated water reabsorption
  Disinhibition of SNARE formation
ER-Phagosome pathway
trans-Golgi Network Vesicle Budding
Other interleukin signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hearing loss, autosomal recessive 123 Likely pathogenic; Pathogenic rs763815427 RCV003883471
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder Likely pathogenic; Pathogenic rs763815427 RCV002291511
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 123 Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 34937778 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 40514687 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 23451202 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34876482 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 34482824 Stimulate
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 24552216, 30305365
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 24552216, 30305365
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 24552216, 27530212
★☆☆☆☆
Found in Text Mining only
Epilepsy Generalized Generalized epilepsy Pubtator 40495522 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 29896202
★☆☆☆☆
Found in Text Mining only