GPSM2 - G protein signaling modulator 2 Gene

中文名称：G 蛋白信号调节因子 2

种属: Homo sapiens

同用名: LGN; CMCS; PINS; DFNB82

基因 ID: 29899 | 基因类型: protein coding

关于 GPSM2

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:108,876,985-108,934,545 (from NCBI)

This gene has 24 transcripts (splice variants), 113 orthologues, 6 paralogues and is associated with 4 phenotypes. Ubiquitous expression in skin (RPKM 9.6), esophagus (RPKM 8.8) and 24 other tissues.

功能概要

由该基因编码的蛋白质属于调节 G 蛋白激活的蛋白质家族，G 蛋白将细胞表面受体接收的细胞外信号转导为整合的细胞反应。该蛋白质的 N 端一半包含 10 个拷贝的 leu-gly-asn (LGN) 重复序列，C 端一半包含 4 个参与鸟嘌呤核苷酸交换的 GoLoco 基序。这种蛋白质可能在成神经细胞分裂和正常听力的发育中发挥作用。该基因的突变与常染色体隐性非综合征性耳聋 (DFNB82) 相关。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 3 月]

The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

GPSM2 基因产物(3)

mRNA	Protein	Name
NM_001321038.2	NP_001307967.1	G-protein-signaling modulator 2
NM_001321039.3	NP_001307968.1	G-protein-signaling modulator 2
NM_013296.5	NP_037428.3	G-protein-signaling modulator 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 dynein complex binding	IDA IDA: 通过直接分析推断	22327364	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	15537540	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11781568	GOA
enables protein domain specific binding	IPI IPI: 通过物理相互作用推断	22074847	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in establishment of mitotic spindle orientation	IMP IMP: 通过突变表型推断	22327364	GOA
involved in maintenance of centrosome location	IMP IMP: 通过突变表型推断	21816348	GOA
involved in mitotic spindle organization	IMP IMP: 通过突变表型推断	21816348	GOA
involved in positive regulation of protein localization to cell cortex	IMP IMP: 通过突变表型推断	22327364	GOA
involved in positive regulation of spindle assembly	IMP IMP: 通过突变表型推断	11781568	GOA
involved in regulation of mitotic spindle organization	IMP IMP: 通过突变表型推断	23027904	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cell cortex	IDA IDA: 通过直接分析推断	21816348	GOA
colocalizes with cell cortex	IMP IMP: 通过突变表型推断	22074847	GOA
located in cell cortex region	IDA IDA: 通过直接分析推断	22327364	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	11781568	GOA
located in lateral cell cortex	IDA IDA: 通过直接分析推断	26766442	GOA
colocalizes with mitotic spindle pole	IDA IDA: 通过直接分析推断	21816348	GOA
located in mitotic spindle pole	IDA IDA: 通过直接分析推断	11781568	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	16458856	GOA
part of protein-containing complex	IMP IMP: 通过突变表型推断	22074847	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

GPSM2 蛋白结构

TPR_1

TPR_12

TPR_7

TPR_12

TPR_1

GoLoco

0
200
400
600
684 a.a.

蛋白主名

其他名称

G-protein-signaling modulator 2

G-protein signalling modulator 2 (AGS3-like, C. elegans)

GPSM2 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	GPSM2	P81274	ARHGEF40	Homo sapiens	Q8TER5-2	Validated Y2H	32296183
种属内	GPSM2	P81274	GAS2L1	Homo sapiens	Q99501	Validated Y2H	32296183
种属内	GPSM2	P81274	INSC	Homo sapiens	Q1MX18	Validated Y2H	32296183
种属内	GPSM2	P81274	WHRN	Homo sapiens	Q9P202	Validated Y2H	32296183
种属内	GPSM2	P81274	NUMA1	Homo sapiens	Q14980	Pull Down	15537540
种属内	GPSM2	P81274	NUMA1	Homo sapiens	Q14980	Y2H	15537540
种属内	GPSM2	P81274	LRRC8E	Homo sapiens	Q6NSJ5	Validated Y2H	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

Chudley-Mccullough Syndrome

CMCS	Deafness, Sensorineural, With Partial Agenesis Of The Corpus Callosum And Arachnoid Cysts
Deafness, Autosomal Recessive 82, Formerly	Dfnb82, Formerly
Deafness, Bilateral Sensorineural, And Hydrocephalus Due To Foramen Of Monro Obstruction	Deafness Autosomal Recessive 82
Dfnb82	Sensorineural Deafness With Partial Agenesis Of The Corpus Callosum And Arachnoid Cysts
Arachnoid Cysts

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb	Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Deafness, Autosomal Recessive

Rare Genetic Deafness

Rare Genetic Hearing Loss

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome

ACOGS

Deafness And Myopia

High Myopia-Sensorineural Deafness Syndrome	DFNMYP
Deafness And Myopia Syndrome	Deafness, Cochlear, Plus
High Myopia And Sensorineural Deafness	Myopia And Deafness
High Myopia-Sensorineural Hearing Loss Syndrome

Deafness, Autosomal Recessive 83

DFNB83	Autosomal Recessive Nonsyndromic Deafness 83
Autosomal Recessive Deafness 83

Deafness, Autosomal Recessive 85

DFNB85	Autosomal Recessive Nonsyndromic Deafness 85
Autosomal Recessive Deafness 85

Deafness, Autosomal Recessive 79

DFNB79	Autosomal Recessive Nonsyndromic Deafness 79
Autosomal Recessive Deafness 79	Deafness, Autosomal Recessive, 79
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79	Deafness, Autosomal Recessive, Type 79

Polymicrogyria

Pmg

Polymicrogyria, Bilateral Temporooccipital

Bilateral Parasagittal Parieto-Occipital Polymicrogyria	BTOP
Bilateral Temporooccipital Polymicrogyria	Polymicrogyria

Deafness, X-Linked 4

DFNX4	Dfn6
Deafness, Nonsyndromic Sensorineural Progressive 6	X-Linked Deafness 4
Deafness, X-Linked 6, Progressive	Nonsyndromic Sensorineural Progressive Deafness 6
X-Linked Progressive Deafness 6	Deafness, X-Linked, 4
Deafness Nonsyndromic Sensorineural Progressive 6	Deafness X-Linked 6 Progressive
Deafness, X-Linked, Type 4

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive	Hydrocephalus, X-Linked
Hydrocephalus Adverse Event	Hydrocephaly Nos

Tubulinopathy

Tubulinopathies

Deafness, X-Linked 2

Progressive Deafness With Stapes Fixation	DFNX2
Dfn3	Nance Deafness
Perilymphatic Gusher-Deafness Syndrome	Stapedo-Vestibular Ankylosis
Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear	X-Linked Deafness 2
X-Linked Mixed Conductive And Neurosensory Deafness	X-Linked Mixed Conductive And Sensorineural Deafness
Deafness 3 Conductive With Stapes Fixation	Deafness Conductive With Stapes Fixation
Deafness Mixed With Perilymphatic Gusher	Thies-Reis Syndrome
Deafness, Conductive, With Stapes Fixation	Deafness 3, Conductive, With Stapes Fixation
Deafness, Mixed, With Perilymphatic Gusher	Conductive Deafness 3 With Stapes Fixation
Conductive Deafness With Stapes Fixation	Mixed Deafness With Perilymphatic Gusher
X-Linked Deafness Type 2	X-Linked Mixed Conductive And Neurosensory Hearing Loss
X-Linked Mixed Conductive And Sensorineural Hearing Loss	X-Linked Sensorineural Deafness
X-Linked Stapes Gusher Syndrome	Deafness Mixed With Perilymphatic Gusher, X-Linked
Dfn 3 Nonsyndromic Hearing Loss And Deafness	Gusher Syndrome
Thies Reis Syndrome	Progressive Hearing Loss With Stapes Fixation
Deafness, X-Linked, 2	Deafness Mixed With Perilymph Gusher X-Linked
Deafness, X-Linked, Type 2	Progressive Hearing Loss Stapes Fixation

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

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

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-RS05760	GPSM2 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	GPSM2	VGNC	VGNC:41458
Macaca mulatta	GPSM2	VGNC	VGNC:99964
Mus musculus	GPSM2	MGD	MGI:1923373
Bos taurus	GPSM2	VGNC	VGNC:29615
Felis catus	GPSM2	VGNC	VGNC:62698
Rattus norvegicus	GPSM2	RGD	RGD:1560967

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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）

GPSM2 - G protein signaling modulator 2 Gene

关于 GPSM2

功能概要

GPSM2 基因产物(3)

GPSM2 蛋白结构

GPSM2 蛋白互作信息

关联疾病

直系同源

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GPSM2 - G protein signaling modulator 2 Gene

关于 GPSM2

功能概要

GPSM2 基因产物(3)

GPSM2 蛋白结构

GPSM2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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C

F

G

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Q

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