STX12 syntaxin 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: STX12provided by HGNC
Official Full Name: syntaxin 12provided by HGNC
Primary source: HGNC:HGNC:11430
See related: Ensembl:ENSG00000117758 MIM:606892; AllianceGenome:HGNC:11430
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: STX13; STX14
Summary: Predicted to enable SNAP receptor activity and SNARE binding activity. Involved in autophagosome assembly; cholesterol efflux; and protein stabilization. Located in several cellular components, including BLOC-1 complex; phagocytic vesicle; and phagophore assembly site. Part of SNARE complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in thyroid (RPKM 63.8), fat (RPKM 35.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p35.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (27773219..27824443)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (27614513..27665738)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (28099730..28150954)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Syntaxin 12 and COMMD3 are new factors that function with VPS33B in the biogenesis of platelet alpha-granules.
Title: Syntaxin 12 and COMMD3 are new factors that function with VPS33B in the biogenesis of platelet α-granules.
A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers.
Title: A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers.
Data indicate that knockdown of syntaxin 13 (syx13) further increased the cellular toxicity caused by mutant CHMP2B (CHMP2BIntron5) expression.
Title: Syntaxin 13, a genetic modifier of mutant CHMP2B in frontotemporal dementia, is required for autophagosome maturation.
STX13 acts as a fusion SNARE in melanosomal trafficking pathways.
Title: STX13 regulates cargo delivery from recycling endosomes during melanosome biogenesis.
The association of Src, EGFR and beta1 integrin is dependent upon membrane traffic that is mediated by syntaxin13 (officially known as STX12) and SNAP23.
Title: SNARE-dependent interaction of Src, EGFR and β1 integrin regulates invadopodia formation and tumor cell invasion.
the importance of syntaxin-13 in the trafficking of matrix metalloproteinases during degradation of extracellular matrix substrates and subsequent cellular invasion
Title: VAMP3, syntaxin-13 and SNAP23 are involved in secretion of matrix metalloproteinases, degradation of the extracellular matrix and cell invasion.
ABCA1 forms a complex with syntaxin 13 and flotillin-1, residing at the plasma membrane and in phagosomes that are partially located in raft microdomains
Title: Association of ABCA1 with syntaxin 13 and flotillin-1 and enhanced phagocytosis in tangier cells.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92348 (e-PCR)
- UniSTS:86787

SHGC-74450 (e-PCR)
- UniSTS:61969

D1S1354 (e-PCR)
- UniSTS:149550

SHGC-8608 (e-PCR)
- UniSTS:52285

SHGC-74518 (e-PCR)
- UniSTS:51813

D1S2787 (e-PCR)
- UniSTS:80998

D1S1976E (e-PCR)
- UniSTS:35692

D1S2200 (e-PCR)
- UniSTS:82585

SHGC-74451 (e-PCR)
- UniSTS:24729

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

Process	Evidence Code	Pubs
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
involved_in endocytic recycling	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein stabilization	IDA Inferred from Direct Assay 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 BLOC-1 complex	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation 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
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in phagocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in phagophore assembly site	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in postsynaptic recycling endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in recycling endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in recycling endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in vesicle	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: syntaxin-12

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.