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    STX4 syntaxin 4 [ Homo sapiens (human) ]

    Gene ID: 6810, updated on 17-Jun-2024

    Summary

    Official Symbol
    STX4provided by HGNC
    Official Full Name
    syntaxin 4provided by HGNC
    Primary source
    HGNC:HGNC:11439
    See related
    Ensembl:ENSG00000103496 MIM:186591; AllianceGenome:HGNC:11439
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    STX4A; p35-2; DFNB123
    Summary
    Enables sphingomyelin phosphodiesterase activator activity. Involved in several processes, including cornified envelope assembly; positive regulation of immune effector process; and positive regulation of protein localization. Located in several cellular components, including basolateral plasma membrane; cytoplasmic vesicle; and lamellipodium. Part of SNARE complex. Is active in glutamatergic synapse and postsynapse. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in spleen (RPKM 17.8), adrenal (RPKM 16.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See STX4 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (31033095..31040168)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31420532..31430402)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31044416..31051489)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30999355-30999854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31001361-31002004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31002005-31002648 Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7407 Neighboring gene syntaxin 1B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31011808-31012308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31012309-31012809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31021995-31022496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31044203-31044714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31045227-31045737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31074971-31075598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31075599-31076226 Neighboring gene zinc finger protein 668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31084437-31085237 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31085443-31085976 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31085977-31086509 Neighboring gene zinc finger protein 646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31099941-31100441 Neighboring gene serine protease 53

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hearing loss, autosomal recessive 123
    MedGen: CN376948 OMIM: 620745 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SNAP receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables SNARE binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sphingomyelin phosphodiesterase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in SNARE complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to type II interferon IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cornified envelope assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in long-term synaptic potentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neurotransmitter transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in organelle fusion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of catalytic activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of eosinophil degranulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of immunoglobulin production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein localization to cell surface IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of extrinsic apoptotic signaling pathway via death domain receptors IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vesicle docking IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vesicle fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of SNARE complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of SNARE complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendritic spine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lateral loop IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in myelin sheath adaxonal region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuron projection membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in postsynapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in somatodendritic compartment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in specific granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in storage vacuole IEA
    Inferred from Electronic Annotation
    more info
     
    located_in synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in trans-Golgi network IEA
    Inferred from Electronic Annotation
    more info
     
    located_in vacuole TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    syntaxin-4
    Names
    renal carcinoma antigen NY-REN-31
    syntaxin 4A (placental)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001272095.1NP_001259024.1  syntaxin-4 isoform 1

      See identical proteins and their annotated locations for NP_001259024.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the shortest protein (isoform 1).
      Source sequence(s)
      AK296652, BI755734, BQ775670
      UniProtKB/TrEMBL
      B7Z425
      Conserved Domains (2) summary
      pfam00804
      Location:1157
      Syntaxin
      pfam05739
      Location:158209
      SNARE; SNARE domain
    2. NM_001272096.1NP_001259025.1  syntaxin-4 isoform 2

      See identical proteins and their annotated locations for NP_001259025.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR, initiates translation at an alternate upstream start codon and uses alternate splice sites at internal exons, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      AK091833, BC002436, BQ775670
      Consensus CDS
      CCDS61916.1
      UniProtKB/Swiss-Prot
      Q12846
      Related
      ENSP00000378447.1, ENST00000394998.5
      Conserved Domains (2) summary
      cd00179
      Location:42187
      SynN; Syntaxin N-terminus domain; syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane; they are a family of receptors for intracellular transport vesicles; each target membrane may ...
      cd15883
      Location:197259
      SNARE_syntaxin4; SNARE motif of syntaxin 4
    3. NM_004604.5NP_004595.2  syntaxin-4 isoform 3

      See identical proteins and their annotated locations for NP_004595.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) initiates translation at an alternate downstream start codon and uses alternate splice sites at internal exons, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      BC002436, BI755734
      Consensus CDS
      CCDS10700.1
      UniProtKB/Swiss-Prot
      A8MXY0, Q12846, Q15525, Q6FHE8
      Related
      ENSP00000317714.3, ENST00000313843.8
      Conserved Domains (2) summary
      cd00179
      Location:39189
      SynN; Syntaxin N-terminus domain; syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane; they are a family of receptors for intracellular transport vesicles; each target membrane may ...
      cd15883
      Location:199261
      SNARE_syntaxin4; SNARE motif of syntaxin 4

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      31033095..31040168
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005255521.2XP_005255578.1  syntaxin-4 isoform X1

      See identical proteins and their annotated locations for XP_005255578.1

      Conserved Domains (3) summary
      cd00179
      Location:40185
      SynN; Syntaxin N-terminus domain; syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane; they are a family of receptors for intracellular transport vesicles; each target membrane may ...
      cd15883
      Location:195257
      SNARE_syntaxin4; SNARE motif of syntaxin 4
      pfam00804
      Location:40231
      Syntaxin; Syntaxin
    2. XM_047434542.1XP_047290498.1  syntaxin-4 isoform X2

    3. XM_047434543.1XP_047290499.1  syntaxin-4 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      31420532..31430402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313784.1XP_054169759.1  syntaxin-4 isoform X4

      UniProtKB/Swiss-Prot
      A8MXY0, Q12846, Q15525, Q6FHE8
    2. XM_054313785.1XP_054169760.1  syntaxin-4 isoform X2

    RNA

    1. XR_008484729.1 RNA Sequence

    2. XR_008484727.1 RNA Sequence

    3. XR_008484728.1 RNA Sequence

    4. XR_008484730.1 RNA Sequence