2. Gene
  3. ROBO2 - roundabout guidance receptor 2 Gene

ROBO2 - roundabout guidance receptor 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：环岛引导接收器 2

种属: Homo sapiens

同用名: SAX3

基因 ID: 6092 | 基因类型: protein coding

关于 ROBO2

Cytogenetic location: 3p12.3 Genomic coordinates (GRCh38): 3:75,906,675-77,649,964 (from NCBI)

This gene has 18 transcripts (splice variants), 274 orthologues, 36 paralogues and is associated with 102 phenotypes. Broad expression in brain (RPKM 5.1), lung (RPKM 2.8) and 14 other tissues.

功能概要

由该基因编码的蛋白质属于 ROBO 家族，是从苍蝇到人类高度保守的蛋白质免疫球蛋白超家族的一部分。编码的蛋白质是狭缝同系物 2 蛋白的跨膜受体，在轴突导向和细胞迁移中发挥作用。该基因的突变与膀胱输尿管反流有关，其特征是尿液从膀胱逆流到输尿管或肾脏。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 2 月]

The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

ROBO2 基因产物(24)

mRNA Protein Name
NM_001128929.3 NP_001122401.1 roundabout homolog 2 isoform ROBO2a
NM_001290039.2 NP_001276968.1 roundabout homolog 2 isoform 3 precursor
NM_001290040.2 NP_001276969.1 roundabout homolog 2 isoform 4 precursor
NM_001290065.2 NP_001276994.1 roundabout homolog 2 isoform 5
NM_001378190.1 NP_001365119.1 roundabout homolog 2 isoform 6
NM_001378191.1 NP_001365120.1 roundabout homolog 2 isoform 7
NM_001378192.1 NP_001365121.1 roundabout homolog 2 isoform 8
NM_001378193.1 NP_001365122.1 roundabout homolog 2 isoform 9 precursor
NM_001378194.1 NP_001365123.1 roundabout homolog 2 isoform 10
NM_001378195.1 NP_001365124.1 roundabout homolog 2 isoform 11
NM_001378196.1 NP_001365125.1 roundabout homolog 2 isoform 12
NM_001378197.1 NP_001365126.1 roundabout homolog 2 isoform 13 precursor
NM_001378198.1 NP_001365127.1 roundabout homolog 2 isoform 14
NM_001378199.1 NP_001365128.1 roundabout homolog 2 isoform 15
NM_001378200.1 NP_001365129.1 roundabout homolog 2 isoform 16
NM_001378201.1 NP_001365130.1 roundabout homolog 2 isoform 17
NM_001378202.1 NP_001365131.1 roundabout homolog 2 isoform 18 precursor
NM_001378203.1 NP_001365132.1 roundabout homolog 2 isoform 19
NM_001394212.1 NP_001381141.1 roundabout homolog 2 isoform 20
NM_001394213.1 NP_001381142.1 roundabout homolog 2 isoform 21
NM_001394214.1 NP_001381143.1 roundabout homolog 2 isoform 22
NM_001395656.1 NP_001382585.1 roundabout homolog 2 isoform 23 precursor
NM_001395657.1 NP_001382586.1 roundabout homolog 2 isoofrm 24
NM_002942.5 NP_002933.1 roundabout homolog 2 isoform ROBO2b precursor
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 identical protein binding IDA
IDA: 通过直接分析推断
12504588 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12504588 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in apoptotic process involved in luteolysis IEP
IEP: 通过表达模式推断
18566128 GOA
involved in brain development IEP
IEP: 通过表达模式推断
10197527 GOA
involved in cellular response to hormone stimulus IEP
IEP: 通过表达模式推断
18566128 GOA
involved in homophilic cell adhesion via plasma membrane adhesion molecules IDA
IDA: 通过直接分析推断
12504588 GOA
involved in negative regulation of negative chemotaxis IDA
IDA: 通过直接分析推断
11748139 GOA
involved in positive regulation of axonogenesis IDA
IDA: 通过直接分析推断
12504588 GOA
involved in ureteric bud development IMP
IMP: 通过突变表型推断
17357069 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
12504588 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

ROBO2 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (31 - 128)

I-set

I-set: Immunoglobulin I-set domain (135 - 221)

I-set

I-set: Immunoglobulin I-set domain (225 - 310)

I-set

I-set: Immunoglobulin I-set domain (314 - 408)

I-set

I-set: Immunoglobulin I-set domain (420 - 505)

fn3

fn3: Fibronectin type III domain (524 - 607)

fn3

fn3: Fibronectin type III domain (647 - 713)

fn3

fn3: Fibronectin type III domain (739 - 826)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1378 a.a.
蛋白主名 其他名称

roundabout homolog 2

roundabout, axon guidance receptor, homolog 2

重组 ROBO2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74595 ROBO2 Protein, Human (HEK293, His) Q9HCK4-1 (S22-P859) ≥95%

关联疾病

疾病名称 别名
Vesicoureteral Reflux 2

VUR2
Familial Vesicoureteral Reflux

Familial Vur
Vesicoureteral Reflux

Vesico-Ureteral Reflux
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia

HH4

Kallmann Syndrome 4

Kal4

Hypogonadotropic Hypogonadism, Type 4 With/Without Anosmia
Papillorenal Syndrome

Renal Coloboma Syndrome

Coloboma Of Optic Nerve With Renal Disease

Renal-Coloboma Syndrome

Optic Nerve Coloboma With Renal Disease

Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies

Renal-Coloboma Syndrome With Macular Abnormalities

Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities

Cakut With Or Without Ocular Abnormalities

PAPRS

Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies

Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease

Coloboma-Ureteral-Renal Syndrome

Oncr

Optic Nerve Coloboma Renal Syndrome

Rcs

Papillo-Renal Syndrome

Optic Coloboma Vesicoureteral Reflux And Renal Anomalies
Ureterocele
End Stage Renal Disease

End Stage Renal Failure

End-Stage Kidney Disease

Kidney Failure, Chronic

Chronic Kidney Disease Stage 5
Congenital Anomalies Of Kidney And Urinary Tract 2

CAKUT2

Ureteropelvic Junction Obstruction

Multicystic Renal Dysplasia, Bilateral

Pelviureteric Junction Obstruction

Pujo

Hydronephrosis Due To Pujo

Upjo

Mcrd

Congenital Anomalies Of The Kidney And Urinary Tract 2

Mrd

Pelvi-Ureteric Junction Obstruction

Kidney And Urinary Tract, Anomalies, Congenital, Type 2

Obstruction Of Pelviureteric Junction
Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities

IDDSSBA
Branchiootorenal Syndrome

Branchio-Oto-Renal Syndrome

Bor Syndrome

Branchiootorenal Dysplasia

Melnick-Fraser Syndrome

Branchiootorenal Spectrum Disorders

Branchio-Otorenal Dysplasia

Branchio Oto Renal Syndrome

Branchiootorenal/Branchiootic Syndrome

Bo Syndrome

Bor

Bos

Branchio-Otorenal Syndrome

Branchiootic Syndrome

Branchiootorenal Syndrome

Branchiootic Syndrome 1
Renal Hypodysplasia/Aplasia 1

Renal Agenesis

Renal Adysplasia

Renal Aplasia

RHDA1

Hereditary Renal Aplasia

Hra

Hereditary Urogenital Adysplasia

Hypodysplasia/Aplasia, Renal, Type 1

Congenital Absence Of Kidneys Syndrome

Congenital Absence Of Kidney

Aplastic Kidney
Reading Disorder

Specific Reading Disorder

Reading

Dyslexia

Developmental Reading Disorder
Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1
Renal Hypoplasia
Ureteral Disease

Ureteral Diseases

Ureteral Disorders

Disorder Of Ureter
Dyslexia
Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12111 ROBO2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus ROBO2 MGD MGI:1890110
Canis familiaris ROBO2 VGNC VGNC:45685
Rattus norvegicus ROBO2 RGD RGD:620167
Macaca mulatta ROBO2 VGNC VGNC:84067
Bos taurus ROBO2 VGNC VGNC:34079
Others ROBO2 NCBI
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