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STX4 syntaxin 4 [ Homo sapiens (human) ]

Gene ID: 6810, updated on 10-Dec-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. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in spleen (RPKM 17.8), adrenal (RPKM 16.5) and 25 other tissues See more
Orthologs
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Genomic context

See STX4 in Genome Data Viewer
Location:
16p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (31033095..31040168)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31420532..31430402)
RS_2024_09 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: C5935588 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 regulation of postsynaptic membrane neurotransmitter receptor levels IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sound 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 Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
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 stereocilium ISS
Inferred from Sequence or Structural Similarity
more info
 
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_2024_08

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