OSBPL2 - oxysterol binding protein like 2 Gene

中文名称：氧固醇结合蛋白样 2

种属: Homo sapiens

同用名: ORP2; ORP-2; DFNA67; DNFA67

基因 ID: 9885 | 基因类型: protein coding

关于 OSBPL2

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:62,238,521-62,296,183 (from NCBI)

This gene has 28 transcripts (splice variants), 272 orthologues, 11 paralogues and is associated with 2 phenotypes. Ubiquitous expression in skin (RPKM 12.0), esophagus (RPKM 9.6) and 25 other tissues.

功能概要

该基因编码氧固醇结合蛋白 (OSBP) 家族的成员，该家族是一组细胞内脂质受体。大多数成员包含一个 N 端 pleckstrin 同源结构域和一个高度保守的 C 端 OSBP 样甾醇结合结构域，尽管编码的蛋白质仅包含甾醇结合结构域。体外研究表明，编码的蛋白质可以与磷酸强烈结合，与磷脂酰肌醇 3-磷酸结合较弱，但不能与 25-羟基胆固醇结合。该蛋白质与高尔基体结合。已经描述了编码不同亚型的转录变体。[RefSeq 提供，2014 年 9 月]

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014]

OSBPL2 基因产物(4)

mRNA	Protein	Name
NM_001278649.3	NP_001265578.1	oxysterol-binding protein-related protein 2 isoform 3
NM_001363878.2	NP_001350807.1	oxysterol-binding protein-related protein 2 isoform 4
NM_014835.5	NP_055650.1	oxysterol-binding protein-related protein 2 isoform 1
NM_144498.4	NP_653081.1	oxysterol-binding protein-related protein 2 isoform 2

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables cholesterol binding	IDA IDA: 通过直接分析推断	17428193	GOA
enables cholesterol transfer activity	IMP IMP: 通过突变表型推断	30581148	GOA
enables phosphatidylinositol transfer activity	IMP IMP: 通过突变表型推断	30581148	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: 通过直接分析推断	30581148	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cholesterol transport	IMP IMP: 通过突变表型推断	30581148	GOA
involved in intracellular cholesterol transport	IMP IMP: 通过突变表型推断	30581148	GOA
involved in phospholipid transport	IMP IMP: 通过突变表型推断	30581148	GOA
involved in plasma membrane organization	IMP IMP: 通过突变表型推断	30581148	GOA
involved in protein homotetramerization	IDA IDA: 通过直接分析推断	30581148	GOA
involved in regulation of synaptic vesicle priming	IDA IDA: 通过直接分析推断	36577376	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasmic side of plasma membrane	IDA IDA: 通过直接分析推断	30581148	GOA
located in cytosol	IDA IDA: 通过直接分析推断	30581148	GOA
is active in glutamatergic synapse	IDA IDA: 通过直接分析推断	36577376	GOA
colocalizes with lipid droplet	IMP IMP: 通过突变表型推断	19224871	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

OSBPL2 蛋白结构

Oxysterol_BP

0
100
200
300
400
480 a.a.

蛋白主名

其他名称

oxysterol-binding protein-related protein 2

OSBP-related protein 2

OSBPL2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	OSBPL2	Q9H1P3	VAPB	Homo sapiens	Q53XM7	Y2H Prey Pooling	25416956
Intra	OSBPL2	Q9H1P3	VAPB	Homo sapiens	Q53XM7	Y2H Array	25416956
Intra	OSBPL2	Q9H1P3	VAPA	Homo sapiens	Q9P0L0	BiFC	25681634
Intra	OSBPL2	Q9H1P3	VAPB	Homo sapiens	O95292	Y2H Array	31515488
Intra	OSBPL2	Q9H1P3	BIRC6	Homo sapiens	Q9NR09	Anti Tag CoIP	33961781
Intra	OSBPL2	Q9H1P3	SNRPF	Homo sapiens	P62306	Y2H Array	32296183
Intra	OSBPL2	Q9H1P3	SNRPF	Homo sapiens	P62306	Y2H Prey Pooling	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Deafness, Autosomal Dominant 67

DFNA67	Autosomal Dominant Nonsyndromic Deafness 67
Autosomal Dominant Deafness 67	Deafness, Autosomal Dominant, 67
Deafness, Autosomal Dominant, Type 67

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna	Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Deafness, Autosomal Dominant 20

DFNA20	Dfna26
Deafness, Autosomal Dominant 20/26	Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Deafness 20	Deafness, Autosomal Dominant, 20
Deafness Autosomal Dominant 26	Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 20
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 20	Deafness, Autosomal Dominant, Type 20/26

Deafness, Autosomal Dominant 68

DFNA68	Autosomal Dominant Nonsyndromic Deafness 68
Autosomal Dominant Deafness 68	Deafness, Autosomal Dominant, 68

Autosomal Dominant Alport Syndrome

Alport Syndrome, Autosomal Dominant	Alport Syndrome Dominant Type
Renal Failure And Sensorineural Hearing Loss	Alport Syndrome, Dominant Type

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS09840	OSBPL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	OSBPL2	VGNC	VGNC:44154
Rattus norvegicus	OSBPL2	RGD	RGD:1311312
Bos taurus	OSBPL2	VGNC	VGNC:32461
Macaca mulatta	OSBPL2	VGNC	VGNC:75611
Felis catus	OSBPL2	VGNC	VGNC:63978
Mus musculus	OSBPL2	MGD	MGI:2442832

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2024 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

OSBPL2 - oxysterol binding protein like 2 Gene

关于 OSBPL2

功能概要

OSBPL2 基因产物(4)

OSBPL2 蛋白结构

OSBPL2 蛋白互作信息

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

OSBPL2 - oxysterol binding protein like 2 Gene

关于 OSBPL2

功能概要

OSBPL2 基因产物(4)

OSBPL2 蛋白结构

OSBPL2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z