Stxbp6 MGI Mouse Gene Detail - MGI:2384963 - syntaxin binding protein 6 (amisyn)

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Stxbp6 Gene Detail

Symbol

Stxbp6
Name

syntaxin binding protein 6 (amisyn)
Synonyms

MGC:30948

Feature Type

protein coding gene
IDs

MGI:2384963
NCBI Gene: 217517
Alliance

gene page
Transcription Start Sites

5 TSS
Candidate for QTL

1 QTL

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Sequence Map

Chr12:44899267-45121248 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 20.71 cM
Mapping Data

5 experiments

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SNPs within 2kb

7547 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_2384963	protein coding gene	Chr12:44899267-45121492 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0019713	protein coding gene	Chr12:43447801-43677552 (-)
A/J	MGP_AJ_G0019677	protein coding gene	Chr12:41854453-42076432 (-)
AKR/J	MGP_AKRJ_G0019648	protein coding gene	Chr12:43210681-43434342 (-)
BALB/cJ	MGP_BALBcJ_G0019655	protein coding gene	Chr12:42160680-42386208 (-)
C3H/HeJ	MGP_C3HHeJ_G0019459	protein coding gene	Chr12:43184666-43424538 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0020102	protein coding gene	Chr12:44702338-44934791 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017727	protein coding gene	Chr12:40831127-41047878 (-)
CAST/EiJ	MGP_CASTEiJ_G0019012	protein coding gene	Chr12:38338034-38571944 (-)
CBA/J	MGP_CBAJ_G0019431	protein coding gene	Chr12:46154804-46403108 (-)
DBA/2J	MGP_DBA2J_G0019544	protein coding gene	Chr12:41721642-41941599 (-)
FVB/NJ	MGP_FVBNJ_G0019533	protein coding gene	Chr12:41269128-41487624 (-)
LP/J	MGP_LPJ_G0019614	protein coding gene	Chr12:43409448-43640578 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019569	protein coding gene	Chr12:46875883-47114127 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020142	protein coding gene	Chr12:42735074-42965585 (-)
PWK/PhJ	MGP_PWKPhJ_G0018779	protein coding gene	Chr12:36387210-36608501 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0018569	protein coding gene	Chr12:37359428-37593459 (-)
WSB/EiJ	MGP_WSBEiJ_G0019062	protein coding gene	Chr12:43064194-43292778 (-)

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Human Ortholog

STXBP6, syntaxin binding protein 6

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

STXBP6, syntaxin binding protein 6
Synonyms

amisyn, HSPC156
Links

HGNC:19666

NCBI Gene ID: 29091

neXtProt AC: NX_Q8NFX7

UniProt: Q8NFX7
Chr Location

14q12; chr14:24809454-25050147 (-) GRCh38

MGI Vertebrate Homology

Stxbp6 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: STXBP6
Gene Tree

Stxbp6

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Phenotype Summary

2 phenotype references

All Mutations and Alleles

1
Targeted

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

16 strains or lines available

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All GO Annotations

5
GO References

4

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

948
Tissues

42
cDNA Data

33
Literature Summary

8

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase stxbp6

ZFIN stxbp6

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All Sequences

53
RefSeq

14
UniProt

4
CCDS

CCDS25898.1

Ensembl

ENSMUSG00000046314 (Evidence)
NCBI Gene

217517

Representative Sequences				Length	Strain/Species	Flank
	genomic	217517	NCBI Gene Model \| MGI Sequence Detail	221982	C57BL/6J	± kb
	transcript	NM_144552	RefSeq \| MGI Sequence Detail	4309	C57BL/6
	polypeptide	Q8R3T5	UniProt \| EBI \| MGI Sequence Detail	210	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000015806 syntaxin-binding protein 6

(term hierarchy)
InterPro Domains

IPR028258 Exocyst complex component Sec3, PIP2-binding N-terminal domain

IPR037822 STXBP6, SNARE domain

IPR037821 Syntaxin-binding protein 6, PH domain

IPR042855 v-SNARE, coiled-coil homology domain

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All nucleic 36

cDNA 33

Primer pair 2

Other 1

Microarray probesets 2

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MGI:2145115

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Summaries

All 37

Developmental Gene Expression 8

Gene Ontology 4

Phenotypes 2
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:357284 Lo Giudice Q, et al., Developmental emergence of first- and higher-order thalamic neuron molecular identities. Development. 2024 Sep 15;151(18)

TSS for Stxbp6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr116202	Chr12:45121892-45121936 (-)	-666 bp
Tssr116201	Chr12:45121240-45121271 (-)	-8 bp
Tssr116200	Chr12:45121142-45121171 (-)	91 bp
Tssr116199	Chr12:45121098-45121130 (-)	134 bp
Tssr116198	Chr12:45121077-45121089 (-)	165 bp

Stxbp6 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Fl1sa	Chr12, 13.69 cM		J:244215	Nonalcoholic fatty liver disease (NAFLD) is a multifactorial disease caused by interactions between environmental and genetic factors. It was previously determined that SMXA-5 mice develop severe fatty liver on a high fat diet, although parental SM/J and A/J mice were resistant to fatty liver. Quantitative trait analysis using (SM/J x SMxA-5)F2 intercrossed mice identified a significant QTL, Fl1sa (fatty liver 1 in SMXA), for liver weight, liver triglyceride and total lipid content on centromere-53.06 Mb of mouse Chromosome 12. The A/J allele at Fl1sa was associated with the fatty liver. [J:124974] In a subsequent study using the livers from A/J-Chr 12 consomic and A/J mice that were fed a high fat diet three candidate genes were identified, Iah1, Rrm2 and Prkd1 using DNA microarray analysis. [J: 240255] The goal of the current study was to narrow the previously identified Fl1sa region by genetic dissection using novel congenic mice to identify candidate genes within the narrowed Fl1sa region. Two strains of congenic mice, A.SM-(centromere - D12Mit85)/J (R2) and A.SM-(D12Mit85-D12Mit112)/J (R3), were constructed from parental A/J and A/JChr 12 . Microsatellite markers and SNPs were used for the genotyping of R2 and R3 genomic DNA. Physical positions were taken from GRCm38.P4. The lipid accumulation in the respective livers was analyzed. As the liver triglyceride content in R2 and R3 congenic mice was significantly lower than in A/J mice. Male A/J, A/J-Chr12, R2 and R3 mice were fed standard chow until 6 weeks of age and thereafter fed a high fat diet from 6 to 13 weeks of age. At 13 weeks of age all mice were sacrificed after a 4 hour fast. The liver and white adipose tissue (subcutaneous fat, epididymal fat, mesenteric fat and retroperitoneal fat) were harvested and weighed. Blood sample were collected to measure serum lipids. Serum triglyceride, cholesterol and hepatic triglyceride content were measured. Whole transcripts from epididymal fats were measured using a Mouse Genome ST 2.0 array. Liver triglyceride content was significantly lower in A/J-Chr 12, R2 and R3 mice compared with that of A/J mice. Liver triglyceride and liver total lipid in R2 and R3 mice showed intermediate values between those of A/J and A/J-Chr 12 mice. The results suggested that the genes responsible for fatty liver existed in the SM/J region in strain R2 (centromere-29.20 Mb) and in the SM/J region in strain R3 (29.20-46.75 Mb) of Chromosome 12, Fig 1. Subsequently, in both of the narrowed Fl1sa regions microarray analysis of liver and epididymal fat from A/J and A/J-Chr 12 mice was performed in an attempt to identify candidate genes. Significant differences in gene expression levels in epididymal fat analysis were confirmed in 6 candidate genes: Ntsr2, Zfp125, Gdap10, Nrcam, Stxbp6 and Nova1 between the two strains.

*cM position of peak correlated region/marker

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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