STXBP6 - syntaxin binding protein 6 Gene

Homo sapiens

Also known as amisyn; HSPC156

Gene ID: 29091 | Gene type: protein coding

About STXBP6

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:24,809,454-25,050,147 (from NCBI)

This gene has 7 transcripts (splice variants), 263 orthologues and 2 paralogues. Broad expression in placenta (RPKM 6.6), brain (RPKM 5.7) and 19 other tissues.

Summary

STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).[supplied by OMIM, Mar 2008]

STXBP6 Products(18)

mRNA	Protein	Name
NM_001304476.3	NP_001291405.1	syntaxin-binding protein 6 isoform 1
NM_001304477.3	NP_001291406.1	syntaxin-binding protein 6 isoform 1
NM_001351940.3	NP_001338869.2	syntaxin-binding protein 6 isoform 1
NM_001351941.3	NP_001338870.1	syntaxin-binding protein 6 isoform 1
NM_001351942.3	NP_001338871.1	syntaxin-binding protein 6 isoform 1
NM_001351943.3	NP_001338872.1	syntaxin-binding protein 6 isoform 1
NM_001394410.1	NP_001381339.1	syntaxin-binding protein 6 isoform 1
NM_001394411.1	NP_001381340.1	syntaxin-binding protein 6 isoform 1
NM_001394412.1	NP_001381341.1	syntaxin-binding protein 6 isoform 1
NM_001394413.1	NP_001381342.1	syntaxin-binding protein 6 isoform 1
NM_001394414.1	NP_001381343.1	syntaxin-binding protein 6 isoform 1
NM_001394415.1	NP_001381344.1	syntaxin-binding protein 6 isoform 1
NM_001394416.1	NP_001381345.1	syntaxin-binding protein 6 isoform 1
NM_001394417.1	NP_001381346.1	syntaxin-binding protein 6 isoform 3
NM_001394418.1	NP_001381347.1	syntaxin-binding protein 6 isoform 4
NM_001394419.1	NP_001381348.1	syntaxin-binding protein 6 isoform 4
NM_001394420.1	NP_001381349.1	syntaxin-binding protein 6 isoform 5
NM_014178.9	NP_054897.4	syntaxin-binding protein 6 isoform 1

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of SNARE complex assembly	IDA IDA: Inferred from direct assay	12145319	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

STXBP6 Protein Structure

Sec3-PIP2_bind

Synaptobrevin

0
100
210 a.a.

Protein Preferred Names

Protein Names

syntaxin-binding protein 6

Related Diseases

Diseases

Alias

Deafness, Autosomal Recessive 35

DFNB35	Autosomal Recessive Nonsyndromic Deafness 35
Autosomal Recessive Deafness 35	Deafness, Autosomal Recessive, 35
Deafness, Autosomal Recessive, Type 35

Syndromic X-Linked Intellectual Disability Cabezas Type

Cabezas Syndrome	Syndromic X-Linked Mental Retardation 15
Mental Retardation, X-Linked, Syndromic 15	Mrss
Mrxs15	Mrxsc
X-Linked Mental Retardation With Short Stature	X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait
Mental Retardation, X-Linked, With Short Stature	Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait

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-RS13995	STXBP6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	STXBP6	VGNC	VGNC:99261
Canis familiaris	STXBP6	VGNC	VGNC:46965
Mus musculus	STXBP6	MGD	MGI:2384963
Bos taurus	STXBP6	VGNC	VGNC:35450
Felis catus	STXBP6	VGNC	VGNC:80829
Rattus norvegicus	STXBP6	RGD	RGD:1306117

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