2. Gene
  3. BLOC1S2 - biogenesis of lysosomal organelles complex 1 subunit 2 Gene

BLOC1S2 - biogenesis of lysosomal organelles complex 1 subunit 2 Gene

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

中文名称：溶酶体细胞器复合物 1 亚基 2 的生物发生

种属: Homo sapiens

同用名: CEAP; BLOS2; BORCS2; CEAP11

基因 ID: 282991 | 基因类型: protein coding

关于 BLOC1S2

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:100,273,278-100,286,680 (from NCBI)

This gene has 6 transcripts (splice variants), 229 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 15.8), brain (RPKM 15.6) and 25 other tissues.

功能概要

该基因编码一种具有多种功能的蛋白质。已发现编码的蛋白质与中心体相关，显示与γ-微管蛋白共定位，并且还发现它是 BLOC-1 复合物中的一种蛋白质，它在溶酶体相关细胞器的形成中发挥作用。该基因的假基因位于 X 染色体上。可变剪接导致多个转录本变体。[RefSeq 提供，2012 年 2 月]

This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

BLOC1S2 基因产物(6)

mRNA Protein Name
NM_001001342.2 NP_001001342.1 biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2
NM_001282436.2 NP_001269365.1 biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 3
NM_001282437.2 NP_001269366.1 biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2
NM_001282438.1 NP_001269367.1 biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2
NM_001282439.2 NP_001269368.1 biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 4
NM_173809.5 NP_776170.2 biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 1

BLOC1S2 蛋白结构

BLOC1_2

BLOC1_2: Biogenesis of lysosome-related organelles complex-1 subunit 2 (41 - 139)

  • 0
  • 100
  • 142 a.a.
蛋白主名 其他名称

biogenesis of lysosome-related organelles complex 1 subunit 2

11 kDa centrosome associated protein

重组 BLOC1S2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76171 BLOC1S2 Protein, Human Q6QNY1-2 (M1-R99) ≥95%

关联疾病

疾病名称 别名
Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency
Schizophrenia 1

SCZD1

Schizophrenia Susceptibility Locus, Chromosome 5-Related

Schizophrenia 1 With Or Without An Affective Disorder
Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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-RS01524 BLOC1S2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus BLOC1S2 RGD RGD:1306551
Canis familiaris BLOC1S2 VGNC VGNC:38467
Bos taurus BLOC1S2 VGNC VGNC:26507
Macaca mulatta BLOC1S2 VGNC VGNC:70357
Mus musculus BLOC1S2 MGD MGI:1920939
Others BLOC1S2 NCBI
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