ROBO2 - roundabout guidance receptor 2 Gene

Also Known as SAX3

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 6092

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables identical protein binding	IDA IDA: Inferred from direct assay	12504588	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12504588	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in apoptotic process involved in luteolysis	IEP IEP: Inferred from expression pattern	18566128	GOA
involved in brain development	IEP IEP: Inferred from expression pattern	10197527	GOA
involved in cellular response to hormone stimulus	IEP IEP: Inferred from expression pattern	18566128	GOA
involved in homophilic cell adhesion via plasma membrane adhesion molecules	IDA IDA: Inferred from direct assay	12504588	GOA
involved in negative regulation of negative chemotaxis	IDA IDA: Inferred from direct assay	11748139	GOA
involved in positive regulation of axonogenesis	IDA IDA: Inferred from direct assay	12504588	GOA
involved in ureteric bud development	IMP IMP: Inferred from mutant phenotype	17357069	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in cell surface	IDA IDA: Inferred from direct assay	12504588	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ROBO2 Protein Structure

I-set

fn3

0
300
600
900
1200
1378 a.a.

Protein Preferred Names	Protein Names
roundabout homolog 2	roundabout, axon guidance receptor, homolog 2

ROBO2 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	ROBO2	Q9HCK4	TMEM237	Homo sapiens	Q96Q45-2	Y2H Prey Pooling	32296183
Intra	ROBO2	Q9HCK4	TMEM237	Homo sapiens	Q96Q45-2	Y2H Array	32296183
Intra	ROBO2	Q9HCK4	GPR152	Homo sapiens	Q8TDT2	Y2H Array	32296183
Intra	ROBO2	Q9HCK4	GPR152	Homo sapiens	Q8TDT2	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ROBO2 Proteins

製品番号	製品名	アクセッション番号	純度
HY-P74595	ROBO2 Protein, Human (HEK293, His)	Q9HCK4-1 (S22-P859)	≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS12111	ROBO2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18841	Robo2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25333	Robo2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

阻害性抗体 (2)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-P990763	Sifarobocept		98.43%	Unkown
HY-P992298	Anti-ROBO2 Antibody		/	Unkown

Orthologs Information

生物種	Symbol	由来	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