GTPBP2 - GTP binding protein 2 Gene

中文名称：GTP 结合蛋白 2

种属: Homo sapiens

同用名: JABELS

基因 ID: 54676 | 基因类型: protein coding

关于 GTPBP2

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:43,620,494-43,631,333 (from NCBI)

This gene has 10 transcripts (splice variants), 272 orthologues, 18 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 18.8), esophagus (RPKM 18.0) and 25 other tissues.

功能概要

GTP 结合蛋白或 G 蛋白构成了一个能够结合 GTP 或 GDP 的超家族。 G 蛋白通过结合 GTP 被激活，并通过将 GTP 水解为 GDP 而失活。这种通用机制使 G 蛋白能够执行广泛的生物活动。[OMIM 提供，2003 年 1 月]

GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.[supplied by OMIM, Jan 2003]

GTPBP2 基因产物(2)

mRNA	Protein	Name
NM_001286216.2	NP_001273145.1	GTP-binding protein 2 isoform b
NM_019096.5	NP_061969.3	GTP-binding protein 2 isoform a

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables GTP binding	IDA IDA: 通过直接分析推断	30108131	GOA
enables alpha-aminoacyl-tRNA binding	IDA IDA: 通过直接分析推断	30108131	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	23455924	GOA
NOT enables translation elongation factor activity	IDA IDA: 通过直接分析推断	30108131	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

GTPBP2 蛋白结构

GTP_EFTU

GTP_EFTU_D3

0
100
200
300
400
500
602 a.a.

蛋白主名

其他名称

GTP-binding protein 2

GTPBP2 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	GTPBP2	Q9BX10	SNRNP70	Homo sapiens	P08621	Y2H Array	32296183
Intra	GTPBP2	Q9BX10	SNRNP70	Homo sapiens	P08621	Y2H Prey Pooling	32296183
Intra	GTPBP2	Q9BX10	SUV39H1	Homo sapiens	O43463	Anti Tag CoIP	23455924
Intra	GTPBP2	Q9BX10	SUV39H1	Homo sapiens	O43463	Y2H	23455924
Intra	GTPBP2	Q9BX10	PRMT5	Homo sapiens	O14744	Y2H	23455924
Intra	GTPBP2	Q9BX10	GPN3	Homo sapiens	Q9UHW5	Y2H Prey Pooling	32296183
Intra	GTPBP2	Q9BX10	GPN3	Homo sapiens	Q9UHW5	Validated Y2H	32296183
Intra	GTPBP2	Q9BX10	GPN3	Homo sapiens	Q9UHW5	Y2H Array	32296183
Intra	GTPBP2	Q9BX10	NXF1	Homo sapiens	Q9UBU9	Validated Y2H	32296183
Intra	GTPBP2	Q9BX10	PLEKHF2	Homo sapiens	Q9H8W4	Validated Y2H	32296183
Intra	GTPBP2	Q9BX10	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Prey Pooling	32296183
Intra	GTPBP2	Q9BX10	GTPBP2	Homo sapiens	Q9BX10	Y2H Prey Pooling	32296183
Intra	GTPBP2	Q9BX10	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Array	32296183
Intra	GTPBP2	Q9BX10	GTPBP2	Homo sapiens	Q9BX10	Validated Y2H	32296183
Intra	GTPBP2	Q9BX10	PICK1	Homo sapiens	Q9NRD5	Y2H Prey Pooling	32296183
Intra	GTPBP2	Q9BX10	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183
Intra	GTPBP2	Q9BX10	GTPBP2	Homo sapiens	Q9BX10	Y2H Array	32296183
Intra	GTPBP2	Q9BX10	PICK1	Homo sapiens	Q9NRD5	Y2H Array	32296183
Intra	GTPBP2	Q9BX10	KDM1A	Homo sapiens	O60341	Anti Tag CoIP	23455924
Intra	GTPBP2	Q9BX10	PRMT6	Homo sapiens	Q96LA8	Anti Tag CoIP	23455924

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

Jaberi-Elahi Syndrome

JABELS

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Woodhouse-Sakati Syndrome

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome	Woodhouse Sakati Syndrome
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome	WDSKS
Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia	Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome
Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia	Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome
Neuroectodermal Endocrine Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities
Wss

Neurodegeneration With Brain Iron Accumulation 2b

NBIA2B	Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
Neuroaxonal Dystrophy, Atypical	Karak Syndrome
Atypical Neuroaxonal Dystrophy	Neurodegeneration With Brain Iron Accumulation Pla2g6-Related
Neurodegeneration, With Brain Iron Accumulation, Type 2b	Neurodegeneration With Brain Iron Accumulation 2

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Neurodegeneration With Brain Iron Accumulation 3

Neuroferritinopathy	NBIA3
Ferritin-Related Neurodegeneration	Hereditary Ferritinopathy
Basal Ganglia Disease, Adult-Onset	Adult Basal Ganglia Disease
Neuroferritinopathy	Basal Ganglia Disease, Adult-Onset
Basal Ganglia Disease Adult-Onset	Adult-Onset Basal Ganglia Disease
Neurodegeneration, With Brain Iron Accumulation, Type 3

Polymicrogyria, Bilateral Temporooccipital

Bilateral Parasagittal Parieto-Occipital Polymicrogyria	BTOP
Bilateral Temporooccipital Polymicrogyria	Polymicrogyria

Yunis-Varon Syndrome

Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia	Yunis Varon Syndrome
YVS	Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia	Yunis-Varón Syndrome

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

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-RS05909	GTPBP2 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	GTPBP2	VGNC	VGNC:73321
Felis catus	GTPBP2	VGNC	VGNC:67508
Rattus norvegicus	GTPBP2	RGD	RGD:1306367
Mus musculus	GTPBP2	MGD	MGI:1860138
Canis familiaris	GTPBP2	VGNC	VGNC:41558
Bos taurus	GTPBP2	VGNC	VGNC:29709

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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）

GTPBP2 - GTP binding protein 2 Gene

关于 GTPBP2

功能概要

GTPBP2 基因产物(2)

GTPBP2 蛋白结构

GTPBP2 蛋白互作信息

关联疾病

直系同源

热门区域

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GTPBP2 - GTP binding protein 2 Gene

关于 GTPBP2

功能概要

GTPBP2 基因产物(2)

GTPBP2 蛋白结构

GTPBP2 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