ROBO2 - roundabout guidance receptor 2 Gene

Also Known as SAX3

Species: Homo sapiens

Gene Type: protein coding
Gene 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 References Source
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 References Source
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 References Source
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

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.
Protein Preferred Names Protein Names

roundabout homolog 2

  • roundabout, axon guidance receptor, homolog 2

ROBO2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

Cat. No. Product Name Accession Purity
HY-P74595 ROBO2 Protein, Human (HEK293, His) Q9HCK4-1 (S22-P859) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

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)
Cat. No. Product Name
Effect
Purity
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
Inhibitory Antibodies (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-P990763 Sifarobocept 98.43% Unkown
HY-P992298 Anti-ROBO2 Antibody / Unkown

Orthologs Information

Species Symbol Source 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