2. Gene
  3. STXBP6 - syntaxin binding protein 6 Gene

STXBP6 - syntaxin binding protein 6 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：突触融合蛋白结合蛋白 6

种属: Homo sapiens

同用名: amisyn; HSPC156

基因 ID: 29091 | 基因类型: protein coding

关于 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.

功能概要

STXBP6 结合 SNARE 复合物的成分 (参见 MIM 603215) ，并可能参与调节 SNARE 复合物的形成 (Scales 等人，2002 [PubMed 12145319]) 。[OMIM 提供，2008 年 3 月]

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 基因产物(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
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of SNARE complex assembly IDA
IDA: 通过直接分析推断
12145319 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

STXBP6 蛋白结构

Sec3-PIP2_bind

Sec3-PIP2_bind: Exocyst complex component SEC3 N-terminal PIP2 binding PH (42 - 133)

Synaptobrevin

Synaptobrevin: Synaptobrevin (157 - 207)

  • 0
  • 100
  • 210 a.a.
蛋白主名 其他名称

syntaxin-binding protein 6

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13995 STXBP6 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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