SH2B1 - SH2B adaptor protein 1 Gene

中文名称：SH2B 衔接蛋白 1

种属: Homo sapiens

同用名: PSM; SH2B

基因 ID: 25970 | 基因类型: protein coding

关于 SH2B1

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:28,846,606-28,874,205 (from NCBI)

This gene has 17 transcripts (splice variants), 206 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 12.3), spleen (RPKM 12.2) and 25 other tissues.

功能概要

该基因编码包含 SH2 结构域的介体家族成员。编码的蛋白质介导各种激酶的激活，并可能在细胞因子和生长因子受体信号转导和细胞转化中发挥作用。已经描述了选择性剪接的转录物变体。[RefSeq 提供，2009 年 3 月]

This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

SH2B1 基因产物(9)

mRNA	Protein	Name
NM_001145795.2	NP_001139267.1	SH2B adapter protein 1 isoform 1
NM_001145796.2	NP_001139268.1	SH2B adapter protein 1 isoform 2
NM_001145797.2	NP_001139269.1	SH2B adapter protein 1 isoform 3
NM_001145812.2	NP_001139284.1	SH2B adapter protein 1 isoform 2
NM_001308293.2	NP_001295222.1	SH2B adapter protein 1 isoform 1
NM_001308294.2	NP_001295223.1	SH2B adapter protein 1 isoform 4
NM_001387404.1	NP_001374333.1	SH2B adapter protein 1 isoform 1
NM_001387430.1	NP_001374359.1	SH2B adapter protein 1 isoform 1
NM_015503.3	NP_056318.2	SH2B adapter protein 1 isoform 2

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	9742218	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within positive regulation of SMAD protein signal transduction	IGI IGI: 通过遗传相互作用推断	28334068	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

SH2B1 蛋白结构

Phe_ZIP

SH2

0
200
400
600
756 a.a.

蛋白主名

其他名称

SH2B adapter protein 1

SH2 domain-containing protein 1B

SH2B1 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
种属内	SH2B1	Q9NRF2	EGFR	Homo sapiens	P00533	Protein Array	16273093
种属内	SH2B1	Q9NRF2	INSR	Homo sapiens	P06213	Y2H	9742218
种属内	SH2B1	Q9NRF2	INSR	Homo sapiens	P06213	CoIP	9742218
种属间	SH2B1	Q9NRF2	Stat3	Mus musculus	P42227	Anti Tag CoIP	24396070

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

Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2b1 Deficiency

Chromosome 16p11.2 Deletion Syndrome

Distal 16p11.2 Microdeletion Syndrome	16p11.2 Deletion Syndrome
Del(16)(P11.2)	Microdeletion 16p11.2
Monosomy 16p11.2	Autism, Susceptibility To, 14a
Auts14a	Distal Del(16)(P11.2)
Distal Monosomy 16p11.2

Chromosome 16p11.2 Deletion Syndrome, 220-Kb

Chromosome 16p11.2 Deletion Syndrome, 220kb	Body Mass Index Qtl16
Chromosome 16p11.2 Deletion Syndrome, 220 Kb

Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Proximal 16p11.2 Microdeletion Syndrome	Chromosome 16p11.2 Deletion Syndrome, 593kb
Autism Susceptibility 14a	Proximal Del(16)(P11.2)
Proximal Monosomy 16p11.2

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Leptin Deficiency Or Dysfunction

Morbid Obesity	Obesity Due To Congenital Leptin Deficiency
LEPD	Congenital Leptin Deficiency
Obesity, Morbid	Obesity, Morbid, Due To Leptin Deficiency
Severe Obesity	Obesity, Morbid, Nonsyndromic 1
Leptin Deficiency	Obesity, Severe, Due To Leptin Deficiency
Leptin	Morbid Obesity Due To Leptin Deficiency
Obesity Morbid	Leptin Dysfunction

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Wagr Syndrome	11p Partial Monosomy Syndrome
Chromosome 11p13 Deletion Syndrome	Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome
11p Deletion Syndrome	Chromosome 11p Deletion Syndrome
Wagr Complex	Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome
Deletion 11p13	WAGR
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome	Chromosome 11p Deletion
11p Deletion	11p Monosomy
Deletion 11p	Monosomy 11p
Partial Monosomy 11p	Agr Triad
Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome
Wagr Contiguous Gene Syndrome	Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome	Del(11)(P13)
Monosomy 11p13	Chromosome 11, Deletion 11p

Sotos Syndrome

Cerebral Gigantism	SOTOS
Chromosome 5q35 Deletion Syndrome	Sotos Syndrome 1, Formerly
Sotos1, Formerly	Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development
Sotos Sequence	Sotos' Syndrome
Sotos1	Sotos Syndrome 1

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome	Deletion 1p36
Monosomy 1p36	Subtelomeric 1p36 Deletion
Monosomy 1p36 Syndrome	Distal Monosomy 1p36
Del(1)(P36)	Deletion 1pter
Monosomy 1pter

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
Obesity , Susceptibility To	BMIQ11
Obesity Bmiq11	Obesity, Early-Onset
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

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-RS12818	SH2B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	SH2B1	VGNC	VGNC:77350
Rattus norvegicus	SH2B1	RGD	RGD:620132
Felis catus	SH2B1	VGNC	VGNC:65088
Canis familiaris	SH2B1	VGNC	VGNC:46109
Bos taurus	SH2B1	VGNC	VGNC:34555
Mus musculus	SH2B1	MGD	MGI:1201407

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）

SH2B1 - SH2B adaptor protein 1 Gene

关于 SH2B1

功能概要

SH2B1 基因产物(9)

SH2B1 蛋白结构

SH2B1 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.

SH2B1 - SH2B adaptor protein 1 Gene

关于 SH2B1

功能概要

SH2B1 基因产物(9)

SH2B1 蛋白结构

SH2B1 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