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STX16 syntaxin 16 [ Homo sapiens (human) ]

Gene ID: 8675, updated on 5-Mar-2024

Summary

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Official Symbol
STX16provided by HGNC
Official Full Name
syntaxin 16provided by HGNC
Primary source
HGNC:HGNC:11431
See related
Ensembl:ENSG00000124222 MIM:603666; AllianceGenome:HGNC:11431
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SYN16; SYN-16
Summary
This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011]
Expression
Ubiquitous expression in spleen (RPKM 25.9), lymph node (RPKM 25.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
20q13.32
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (58651283..58679526)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (60433347..60461590)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (57226339..57254582)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18175 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57212955-57213590 Neighboring gene long intergenic non-protein coding RNA 1711 Neighboring gene uncharacterized LOC107985410 Neighboring gene Sharpr-MPRA regulatory region 5631 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57223531-57224068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13074 Neighboring gene STX16-NPEPL1 readthrough (NMD candidate) Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:57227205-57227708 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:57236323-57236822 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57244387-57245042 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57245043-57245700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57245701-57246356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57250883-57251408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57251409-57251933 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57267289-57267994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57269435-57270042 Neighboring gene aminopeptidase like 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57276557-57277089 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57277090-57277621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57290235-57291042 Neighboring gene uncharacterized LOC124904942

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions. Kiuchi Z, et al. J Clin Endocrinol Metab, 2022 Jan 18. PMID 34477200, Free PMC Article
  2. Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion. de Lange IM, et al. Am J Med Genet A, 2016 Sep. PMID 27338644
  3. Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. Sano S, et al. Endocr J, 2015. PMID 25843330
  4. Syntaxin 16 is a master recruitment factor for cytokinesis. Neto H, et al. Mol Biol Cell, 2013 Dec. PMID 24109596, Free PMC Article
  5. De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases. Turan S, et al. J Clin Endocrinol Metab, 2012 Dec. PMID 23087324, Free PMC Article

See all (67) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion.
    Title: Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion.
  2. Analysis of defects in GNAS and STX16 genes in a Chinese family with pseudohypoparathyroidism.
    Title: Analysis of defects in GNAS and STX16 genes in a Chinese family with pseudohypoparathyroidism.
  3. Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions.
    Title: Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions.
  4. Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion.
    Title: Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion.
  5. we here present a patient with PHP1b caused by a recurrent STX16 deletion, presenting with macrosomia, early onset obesity, and macrocephaly without other AHO symptoms. we reemphasize STX16 deletions and PHP1b as a rare cause for early onset obesity and macrosomia.
    Title: Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.
  6. STX16 microdeletion was identified in male monozygotic twins (with pseudohypoparathyroidism type 1B leading to growth hormone deficiency) and mother/grandmother (not father/grandfather or sister [their triplet with separate placenta]). [CASE STUDY]
    Title: Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib.
  7. syntaxin 16 is a key regulator of cytokinesis.
    Title: Syntaxin 16 is a master recruitment factor for cytokinesis.
  8. Data indicate that depletion of VAMP4, syntaxin 6, syntaxin 16, and Vti1a disrupted the Golgi ribbon structure.
    Title: VAMP4 is required to maintain the ribbon structure of the Golgi apparatus.
  9. A patient with familial pseudohypoparathyroidism type Ib and his asymptomatic brother were found to have methylation defect at GNAS (guanine nucleotide-binding protein G) and microdeletion involving exons 4-6 of neighboring gene STX16. [CASE REPORT]
    Title: Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification.
  10. De novo 3-kb STX16 deletions, reported only once previously, are infrequent but should be excluded in all cases of Pseudohypoparathyroidism-Ib, even when the family history is negative for an inherited form of this disorder.
    Title: De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Pseudohypoparathyroidism type 1B
MedGen: C1864100 OMIM: 603233 GeneReviews: Disorders of GNAS Inactivation
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EBI GWAS Catalog

Description
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough STX16-NPEPL1

Readthrough gene: STX16-NPEPL1, Included gene: NPEPL1

Homology

Clone Names

  • MGC90328

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SNAP receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables SNAP receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables syntaxin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in endocytic recycling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retrograde transport, endosome to Golgi IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retrograde transport, endosome to Golgi 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
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi cisterna IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
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 
part_of SNARE complex TAS
Traceable Author Statement
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in focal adhesion HDA PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
  
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 
located_in trans-Golgi network membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
syntaxin-16

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_011831.3 RefSeqGene

    Range
    5002..33245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001433.3 → NP_001001433.1  syntaxin-16 isoform a

    See identical proteins and their annotated locations for NP_001001433.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a, also referred to as isoform B).
    Source sequence(s)
    AL050327, AL139349, KF456959
    Consensus CDS
    CCDS13468.1
    UniProtKB/Swiss-Prot
    A6NK32, A6NN69, A8MPP0, B7ZBN1, B7ZBN2, B7ZBN3, E1P5M0, E1P607, O14661, O14662, O14663, O60517, Q5W084, Q5W086, Q5W087, Q5XKI6, Q6GMS8, Q9H0Z0, Q9H1T7, Q9H1T8, Q9UIX5
    UniProtKB/TrEMBL
    B4E3U3
    Related
    ENSP00000360183.4, ENST00000371141.8
    Conserved Domains (2) summary
    COG5325
    Location:75 → 301
    COG5325; t-SNARE complex subunit, syntaxin [Intracellular trafficking and secretion]
    cd15845
    Location:233 → 291
    SNARE_syntaxin16; SNARE motif of syntaxin 16

  2. NM_001134772.3 → NP_001128244.1  syntaxin-16 isoform c

    See identical proteins and their annotated locations for NP_001128244.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in a shorter isoform (c), compared to isoform a.
    Source sequence(s)
    AL050327, AL139349, KF456959
    Consensus CDS
    CCDS46619.1
    UniProtKB/TrEMBL
    B4E3U3
    Related
    ENSP00000350723.4, ENST00000358029.8
    Conserved Domains (2) summary
    COG5325
    Location:71 → 297
    COG5325; t-SNARE complex subunit, syntaxin [Intracellular trafficking and secretion]
    cd15845
    Location:229 → 287
    SNARE_syntaxin16; SNARE motif of syntaxin 16

  3. NM_001134773.3 → NP_001128245.1  syntaxin-16 isoform d

    See identical proteins and their annotated locations for NP_001128245.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter isoform (d), compared to isoform a.
    Source sequence(s)
    AL050327, AL139349, KF456959
    Consensus CDS
    CCDS46620.1
    UniProtKB/TrEMBL
    B4E3U3
    Related
    ENSP00000348229.5, ENST00000355957.9
    Conserved Domains (2) summary
    COG5325
    Location:58 → 284
    COG5325; t-SNARE complex subunit, syntaxin [Intracellular trafficking and secretion]
    cd15845
    Location:216 → 274
    SNARE_syntaxin16; SNARE motif of syntaxin 16

  4. NM_001204868.2 → NP_001191797.1  syntaxin-16 isoform e

    See identical proteins and their annotated locations for NP_001191797.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (e) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AL050327, AL139349, KF456959
    Consensus CDS
    CCDS56199.1
    UniProtKB/TrEMBL
    B4E3U3
    Related
    ENSP00000352634.4, ENST00000359617.8
    Conserved Domains (2) summary
    cd15845
    Location:180 → 238
    SNARE_syntaxin16; SNARE motif of syntaxin 16
    cl00143
    Location:29 → 135
    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 ...

  5. NM_003763.6 → NP_003754.2  syntaxin-16 isoform b

    See identical proteins and their annotated locations for NP_003754.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in a shorter isoform (b, also referred to as isoform A), compared to isoform a.
    Source sequence(s)
    AL050327, AL139349, KF456959
    Consensus CDS
    CCDS13469.1
    UniProtKB/TrEMBL
    B4E3U3
    Related
    ENSP00000360173.4, ENST00000371132.8
    Conserved Domains (2) summary
    COG5325
    Location:54 → 280
    COG5325; t-SNARE complex subunit, syntaxin [Intracellular trafficking and secretion]
    cd15845
    Location:212 → 270
    SNARE_syntaxin16; SNARE motif of syntaxin 16

RNA

  1. NR_037941.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate splice site in the 5' region and lacks an exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the supported start codon, as used in variant 1, would render the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL050327, AL139349, KF456959

  2. NR_037942.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has alternate exon structure in the 5' region and lacks an exon in the central region, compared to variant 1. This variant is represented as non-coding because it lacks the supported start codon, as found in variant 1, and the use of the next available in-frame start codon would render the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL050327, AL139349, KF456959

  3. NR_037943.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has alternate exon structure in the 5' region and lacks an exon in the central region, compared to variant 1. This variant is represented as non-coding because it lacks the supported start codon, as found in variant 1, and the use of the next available in-frame start codon would render the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL050327, AL139349, KF456959

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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    58651283..58679526
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    60433347..60461590
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001001434.1: Suppressed sequence

    Description
    NM_001001434.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14662.3 GenPept UniProtKB/Swiss-Prot:O14662

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