STX1B - syntaxin 1B Gene

Homo sapiens

Also known as GEFSP9; STX1B1; STX1B2

Gene ID: 112755 | Gene type: protein coding

About STX1B

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,989,256-31,010,638 (from NCBI)

This gene has 3 transcripts (splice variants), 197 orthologues, 12 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 32.7) and testis (RPKM 1.4).

Summary

The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]

STX1B Products(1)

mRNA	Protein	Name
NM_052874.5	NP_443106.1	syntaxin-1B

STX1B Protein Structure

Syntaxin

SNARE

0
100
200
288 a.a.

Protein Preferred Names

Protein Names

syntaxin-1B

syntaxin-1B1

Related Diseases

Diseases

Alias

Generalized Epilepsy With Febrile Seizures Plus, Type 9

GEFSP9	Gefs+9
Generalized Epilepsy With Febrile Seizures Plus 9	Gefs+, Type 9
Generalised Epilepsy With Febrile Seizures Plus 9	Generalised Epilepsy With Febrile Seizures Plus Type 9
Generalized Epilepsy With Febrile Seizures Plus Type 9	Gefs+ Type 9
Epilepsy, Generalized, With Febrile Seizures Plus, Type 9

Generalized Epilepsy With Febrile Seizures Plus

Gefs+	Genetic Epilepsy With Febrile Seizures Plus
Generalized Epilepsy With Febrile Seizures-Plus	Genetic Epilepsy With Febrile Seizures-Plus
Epilepsy, Generalized, With Febrile Seizures Plus

Intermittent Squint

Intermittent Heterotropia

Intermittent Tropia

Generalized Epilepsy With Febrile Seizures Plus, Type 8

GEFSP8	Gefs+8
Generalized Epilepsy With Febrile Seizures Plus 8	Gefs+, Type 8
Generalised Epilepsy With Febrile Seizures Plus 8	Generalised Epilepsy With Febrile Seizures Plus Type 8
Generalized Epilepsy With Febrile Seizures Plus Type 8

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Generalized Epilepsy With Febrile Seizures Plus, Type 6

GEFSP6	Gefs+6
Generalized Epilepsy With Febrile Seizures Plus 6	Gefs+, Type 6
Generalised Epilepsy With Febrile Seizures Plus 6	Generalised Epilepsy With Febrile Seizures Plus Type 6
Generalized Epilepsy With Febrile Seizures Plus Type 6

Febrile Seizures, Familial, 7

FEB7	Febrile Convulsions, Familial, 7
Familial Febrile Seizures 7	Familial Febrile Convulsions 7

Febrile Seizures, Familial, 9

FEB9	Febrile Convulsions, Familial, 9
Familial Febrile Seizures 9	Familial Febrile Convulsions 9

Generalized Epilepsy With Febrile Seizures Plus, Type 4

GEFSP4	Gefs+4
Generalized Epilepsy With Febrile Seizures Plus 4	Gefs+, Type 4
Generalised Epilepsy With Febrile Seizures Plus 4	Generalised Epilepsy With Febrile Seizures Plus Type 4
Generalized Epilepsy With Febrile Seizures Plus Type 4

Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations

MCCCHCM

Familial Febrile Seizures

Familial Febrile Convulsions	Feb
Febrile Seizures, Familial

Photosensitive Epilepsy

Pse	Photogenic Epilepsy
Photoparoxysmal Response	Reflex Epilepsy, Photosensitive
Photoparoxysmal Response 1

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy	Janz Syndrome
Jme	Myoclonic Epilepsy, Juvenile, Susceptibility To, 1
EJM	Myoclonic Epilepsy, Juvenile
Petit Mal, Impulsive	Myoclonic Epilepsy, Juvenile 1
Myoclonic Epilepsy, Juvenile, 1	Adolescent Myoclonic Epilepsy
Juvenile Myoclonus Epilepsy	Juvenile Myoclonic Epilepsy 1
EJM1	Petit Mal Impulsive
Susceptibility To Juvenile Myoclonic Epilepsy 1	Myoclonic Epilepsy Juvenile
Epilepsy, Myoclonic, Juvenile	Myoclonic Epilepsy Of Janz
Jme - [Juvenile Myoclonic Epilepsy]

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy	Severe Myoclonic Epilepsy In Infancy
Smei	Epileptic Encephalopathy, Early Infantile, 6
DRVT	Developmental And Epileptic Encephalopathy 6a
Dee6a	Eiee6
Developmental And Epileptic Encephalopathy, 6	Dee6
Developmental And Epileptic Encephalopathy 6	Early Infantile Epileptic Encephalopathy 6
Myoclonic Epilepsy, Severe, Of Infancy	Sme
Severe Myoclonus Epilepsy Of Infancy	Borderline Smei
Smeb	Smeb-M
Smeb-O	Smeb-Sw
Smei-Borderland	Smei-Borderland More Than One Feature
Smei-Borderland-Myoclonic Seizures	Smei-Borderland-Spike Wave
Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures	ICEGTC
Infantile Severe Myoclonic Epilepsy	Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13981	STX1B Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	STX1B	RGD	RGD:3784
Macaca mulatta	STX1B	VGNC	VGNC:78160
Canis familiaris	STX1B	VGNC	VGNC:49723
Bos taurus	STX1B	VGNC	VGNC:35437
Mus musculus	STX1B	MGD	MGI:1930705
Felis catus	STX1B	VGNC	VGNC:65811

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