ROBO3 - roundabout guidance receptor 3 Gene

中文名称：环岛引导接收器 3

种属: Homo sapiens

同用名: HGPS; RIG1; HGPPS; RBIG1; HGPPS1

基因 ID: 64221 | 基因类型: protein coding

关于 ROBO3

Cytogenetic location: 11q24.2 Genomic coordinates (GRCh38): 11:124,865,432-124,881,471 (from NCBI)

This gene has 21 transcripts (splice variants), 319 orthologues, 36 paralogues and is associated with 4 phenotypes. Ubiquitous expression in ovary (RPKM 7.2), spleen (RPKM 3.0) and 21 other tissues.

功能概要

该基因是 Roundabout (ROBO) 基因家族的成员，该家族控制神经突生长、生长锥引导和轴突束颤。 ROBO 蛋白是免疫球蛋白跨膜受体超家族的一个亚家族。 SLIT 蛋白 1-3 是分泌型化学排斥剂家族，是 ROBO 蛋白的配体，除神经发生外，SLIT/ROBO 相互作用还调节肌生成、白细胞迁移、肾脏形态发生、血管生成和血管生成。该基因 ROBO3 具有一个推定的胞外结构域，该结构域具有五个免疫球蛋白 (Ig) 样环和三个纤连蛋白 (Fn) III 型基序、一个跨膜片段和一个具有三个保守信号基序的细胞质尾部：CC0、CC2 和 CC3 ( CC 表示保守的细胞质) 。与其他 ROBO 家族成员不同，ROBO3 缺少主题 CC1。 ROBO3 基因调节神经管腹侧中线的轴突导航。在小鼠中，Robo3 的缺失导致连合轴突完全无法穿过整个脊髓和后脑的中线。突变 ROBO3 导致水平凝视麻痹伴进行性脊柱侧弯 (HGPPS) ；一种常染色体隐性遗传病，其特征是先天性水平凝视缺失、进行性脊柱侧凸以及皮质脊髓和体感轴突束无法穿过延髓中线。[RefSeq 提供，2019 年 5 月]

This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike Other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. [provided by RefSeq, May 2019]

ROBO3 基因产物(8)

mRNA	Protein	Name
NM_001370356.1	NP_001357285.1	roundabout homolog 3 isoform b
NM_001370357.1	NP_001357286.1	roundabout homolog 3 isoform b
NM_001370358.1	NP_001357287.1	roundabout homolog 3 isoform b
NM_001370359.1	NP_001357288.1	roundabout homolog 3 isoform b
NM_001370361.1	NP_001357290.1	roundabout homolog 3 isoform b
NM_001370364.1	NP_001357293.1	roundabout homolog 3 isoform c
NM_001370366.1	NP_001357295.1	roundabout homolog 3 isoform c
NM_022370.4	NP_071765.2	roundabout homolog 3 isoform a precursor

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 protein binding	IPI IPI: 通过物理相互作用推断	26586761	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

ROBO3 蛋白结构

I-set

fn3

0
300
600
900
1200
1386 a.a.

蛋白主名

其他名称

roundabout homolog 3

retinoblastoma inhibiting gene 1

关联疾病

疾病名称

别名

Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1

Hgpps	Horizontal Gaze Palsy With Progressive Scoliosis
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis	HGPPS1
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, 1	Gaze Palsy, Horizontal, With Progressive Scoliosis
Progressive External Ophthalmoplegia And Scoliosis	Familial Horizontal Gaze Palsy With Progressive Scoliosis
Familial Idiopathic Scoliosis Associated With Congenital Encephalopathy	Familial Infantile Scoliosis Associated With Bilateral Paralysis Of Conjugate Gaze
Ophthalmoplegia, Progressive External, And Scoliosis	Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, Type 1

Scoliosis

Esotropia

Convergence In Manifest Squint	Crossed Eyes
Internal Strabismus	Convergent Concomitant Strabismus
Convergent Squint	Convergent Strabismus
Cross-Eye

Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a

MLC2A	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 2a
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 2a

Dissociated Nystagmus

Cortical Dysplasia, Complex, With Other Brain Malformations 1

Complex Cortical Dysplasia With Other Brain Malformations 1	CDCBM1
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation

Mirror Movements 1

Congenital Mirror Movement Disorder	Bimanual Synergia
Congenital Mirror Movements	Familial Congenital Controlateral Synkinesia
Familial Congenital Mirror Movements	Hereditary Congenital Controlateral Synkinesia
Hereditary Congenital Mirror Movements	Isolated Congenital Controlateral Synkinesia
Isolated Congenital Mirror Movements	Mirror Movements
MRMV1	Mirror Movements 1 And/Or Agenesis Of The Corpus Callosum
Mirror Movements, Congenital	Bimanual Synkinesis
Cmm	Mirror Movements, Type 1

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles	Cfeom
Feom	Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome	General Fibrosis Syndrome

Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b

Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b, Remitting, With Or Without Mental Retardation

Achilles Bursitis

Achilles Bursitis Or Tendinitis	Capped Hock
Haglund'S Deformity	Haglund'S Disease
Osteochondritis Of The Talus

Bone Structure Disease

Hypotropia

Hypertropia

Partial Third-Nerve Palsy

Partial Third Nerve Palsy	Third Nerve Palsy With Pupil Sparing
Third Or Oculomotor Nerve Palsy, Partial	Oculomotor Nerve Diseases
Oculomotor Nerve Paralysis

Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome	Duane'S Syndrome
Duane Syndrome	Isolated Duane Retraction Syndrome
Co-Contractive Retraction Syndrome	Duane Anomaly, Isolated
Ocular Retraction Syndrome	Drs
Durs

Klippel-Feil Syndrome

Cervical Vertebral Fusion	Congenital Dystrophia Brevicollis
Cervical Fusion Syndrome	Klippel-Feil Deformity
Autosomal Dominant Klippel-Feil Syndrome	Congenital Synostosis Of Cervical Vertebrae
Klippel-Feil And Turner Syndrome	Klippel-Feil Deformity, Deafness And Facial Asymmetry
Klippel Feil Syndrome	Cervical Vertebral Fusion Syndrome
Dystrophia Brevicollis Congenita	Fusion Of Cervical Vertebrae
Kfs	Klippel-Feil Sequence
Vertebral Cervical Fusion Syndrome	Klippel-Feil Syndrome, Autosomal Dominant
Klippel-Feil Malformation	Isolated Klippel-Feil Syndrome

Exotropia

Divergent Concomitant Strabismus	Divergent Strabismus
Divergent Squint	External Strabismus
Xt - [Exotropia]

Ocular Motility Disease

Ocular Motility Disorders	Abnormality Of Eye Movement
Disorder Of Eye Movements	Eye Movement Disorder
Eye Movement Disorders

Moebius Syndrome

Mobius Syndrome	Moebius Sequence
Oromandibular-Limb Hypogenesis Spectrum	Congenital Facial Diplegia
MBS	Moebius Congenital Oculofacial Paralysis
Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves	Congenital Facial Diplegia Syndrome
Congenital Oculofacial Paralysis	Congenital Ophthalmoplegia And Facial Paresis
Moebius Spectrum	Möbius Sequence
Möbius Syndrome	Mobius Ii Syndrome

Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Kallmann Syndrome

Hypogonadism With Anosmia	Kallman'S Syndrome
Anosmic Hypogonadism	Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism And Anosmia	Hypogonadotropic Hypogonadism-Anosmia Syndrome
Olfacto-Genital Pathological Sequence	Familial Hypogonadism With Anosmia
Kallman Syndrome	Dysplasia Olfactogenitalis Of De Morsier
Kallmann'S Syndrome	Congenital Hypogonadotropic Hypogonadism With Anosmia

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-RS12112	ROBO3 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS21038	Robo3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS27555	Robo3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	ROBO3	VGNC	VGNC:34080
Canis familiaris	ROBO3	VGNC	VGNC:45686
Macaca mulatta	ROBO3	VGNC	VGNC:101392
Felis catus	ROBO3	VGNC	VGNC:64714
Mus musculus	ROBO3	MGD	MGI:1343102
Rattus norvegicus	ROBO3	RGD	RGD:1311018

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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）

ROBO3 - roundabout guidance receptor 3 Gene

关于 ROBO3

功能概要

ROBO3 基因产物(8)

ROBO3 蛋白结构

关联疾病

直系同源

热门区域

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ROBO3 - roundabout guidance receptor 3 Gene

关于 ROBO3

功能概要

ROBO3 基因产物(8)

ROBO3 蛋白结构

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