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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ROBO3 Gene

protein-coding GIFtS: 60
GCID: GC11P124735

roundabout, axon guidance receptor, homolog 3 (Drosophila)

(Previous names: roundabout (axon guidance receptor, Drosophila) homolog...)
(Previous symbol: HGPPS)

Explore 19 diseases affiliated with
ROBO3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Roundabout, Axon Guidance Receptor, Homolog 3 (Drosophila)¹ ²		FLJ21044¹
HGPPS¹ ² ⁵		Horizontal Gaze Palsy With Progressive Scoliosis¹
RBIG1¹ ² ⁵		Roundabout (Axon Guidance Receptor, Drosophila) Homolog 3¹
HGPS¹ ²		Retinoblastoma Inhibiting Gene 1²
Roundabout-Like Protein 3² ³		Roundabout Homolog 3²
RIG1² ⁵

External Ids:	HGNC: 13433¹	Entrez Gene: 64221²	Ensembl: ENSG00000154134⁷	OMIM: 608630⁵	UniProtKB: Q96MS0³

Export aliases for ROBO3 gene to outside databases

Previous GC identifers: GC11P124284 GC11P124240 GC11P120677

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ROBO3:

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. Alternative transcript variants have been described but have not been

experimentally validated. (provided by RefSeq, Dec 2009)

UniProtKB/Swiss-Prot: ROBO3_HUMAN, Q96MS0

Function: Thought to be involved during neural development in axonal navigation at the ventral midline of the neural

tube. In spinal chord development plays a role in guiding commissural axons probably by preventing premature

sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1 (By similarity). Required for hindbrain axon

midline crossing

Gene Wiki entry for ROBO3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ROBO3 gene promoter:
USF1 NRSF form 1 Nkx2-5 LCR-F1 NRSF form 2 CBF-C CBF-B CBF-A USF-1 CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ROBO3 promoter sequence

Search SABiosciences Chromatin IP Primers for ROBO3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ROBO3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q24.2 Ensembl cytogenetic band: 11q24.2 HGNC cytogenetic band: 11q24

ROBO3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ROBO3 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P124735: view genomic region (about GC identifiers)

Start:	124,735,282 bp from pter	End:	124,751,370 bp from pter
Size:	16,089 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ROBO3_HUMAN, Q96MS0 (See protein sequence)

Recommended Name: Roundabout homolog 3 precursor

Size: 1386 amino acids; 148209 Da

Subunit: Probably interacts with SLIT2 (By similarity)

Subcellular location: Membrane; Single-pass type I membrane protein (Potential)

Alternative splicing: 2 isoforms: Q96MS0-1 Q96MS0-2

Explore the universe of human proteins at neXtProt for ROBO3: NX_Q96MS0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96MS0

ROBO3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_071765.2

ENSEMBL proteins:

ENSP00000380903 ENSP00000441797 ENSP00000438799

Reactome Protein details: Q96MS0
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	GenScript Custom Purified and Recombinant Proteins Services for ROBO3
	Novus Biologicals ROBO3 Protein Novus Biologicals ROBO3 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ROBO3

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	NAS	15105459
GO:0030424	axon	IEA	--

ROBO3 for ontologies About GeneDecksing

ROBO3 Antibody Products:

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	Novus Biologicals ROBO3 Antibodies
	Search for Antibodies for ROBO3 at Abcam
	Uscn Antibodies for ROBO3
	ThermoFisher Antibodies for ROBO3

Assay Products for ROBO3:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ROBO3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ROBO3 for domains About GeneDecksing

5 InterPro domains/families:

IPR003598 Ig_sub2

IPR007110 Ig-like_dom

IPR003961 Fibronectin_type3

IPR013098 Ig_I-set

IPR013783 Ig-like_fold

Graphical View of Domain Structure for InterPro Entry Q96MS0

ProtoNet protein and cluster: Q96MS0

1 Blocks protein family: IPB003598 Immunoglobulin C-2 type

UniProtKB/Swiss-Prot: ROBO3_HUMAN, Q96MS0

Similarity: Belongs to the immunoglobulin superfamily. ROBO family

Similarity: Contains 3 fibronectin type-III domains

Similarity: Contains 5 Ig-like C2-type (immunoglobulin-like) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ROBO3_HUMAN, Q96MS0

Function: Thought to be involved during neural development in axonal navigation at the ventral midline of the neural

tube. In spinal chord development plays a role in guiding commissural axons probably by preventing premature

sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1 (By similarity). Required for hindbrain axon

midline crossing

miRNA Products:		OriGene 3'-UTR Clone: ROBO3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ROBO3
		1 QIAGEN miScript miRNA Assays for microRNA that regulate ROBO3:
		hsa-miR-383
		SwitchGear 3'UTR luciferase reporter plasmid: ROBO3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ROBO3 (see all 3) OriGene siRNA: ROBO3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ROBO3

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ROBO3

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ROBO3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ROBO3 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ROBO3 (NM_022370)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ROBO3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ROBO3

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ROBO3
		Search LifeMap BioReagents cell lines for ROBO3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ROBO3

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0005515	protein binding	--	--
GO:0042803	protein homodimerization activity	IEA	--
GO:0046982	protein heterodimerization activity	IEA	--

ROBO3 for ontologies About GeneDecksing

Animal Models:
8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Robo3):

behavior/neurological	cellular	embryogenesis	hearing/vestibular/ear	homeostasis/metabolism
mortality/aging	nervous system	respiratory system

ROBO3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Axon guidance

Axon guidance

1.00

Developmental Biology

0.69

Cytoskeleton remodeling Slit-Robo signaling

Cytoskeleton remodeling Slit-Robo signaling

1.00

Development_Slit-Robo signaling

0.92

Regulation of Commissural axon pathfinding by Slit and Robo

Regulation of Commissural axon pathfinding by Slit and Robo

1.00

Axon guidance

Axon guidance

1.00

Activation of Rac

Signaling by Robo receptor

0.44

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for ROBO3

Cytoskeleton remodeling Slit-Robo signaling

1 GeneGo (Thomson Reuters) Pathway for ROBO3

Development Slit-Robo signaling

4 Reactome Pathways for ROBO3

	Regulation of Commissural axon pathfinding by Slit and Robo
	Developmental Biology
	Signaling by Robo receptor
	Axon guidance

1 Kegg Pathway (Kegg details for ROBO3):

Axon guidance

ROBO3 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ROBO3

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for ROBO3 (Q96MS0³ ENSP00000380903⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APOA1	P02647³, ENSP00000236850⁴	I2D: score=1 STRING: ENSP00000236850
SLIT2	ENSP00000273739⁴	STRING: ENSP00000273739
--	ENSP00000381450⁴	STRING: ENSP00000381450

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001764	neuron migration	IEA	--
GO:0007411	axon guidance	TAS	--
GO:0016199	axon midline choice point recognition	ISS	--

ROBO3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ROBO3
Search CenterWatch for drugs/clinical trials and news about ROBO3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ROBO3 gene:

NM_022370.3

Unigene Cluster for ROBO3:

Roundabout, axon guidance receptor, homolog 3 (Drosophila)

Hs.435621 [show with all ESTs]

Unigene Representative Sequence: AY509035

18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):

ENST00000397801(uc001qbc.3) ENST00000538940 ENST00000527196 ENST00000527245

ENST00000529658(uc001qbe.3) ENST00000531545 ENST00000525448(uc001qbd.2 uc010sar.2)

ENST00000528144 ENST00000531888 ENST00000528068 ENST00000532472 ENST00000531119

ENST00000530647 ENST00000526551 ENST00000528820 ENST00000525482 ENST00000534598(uc010saq.2)

ENST00000531075

miRNA Products:		OriGene 3'-UTR Clone: ROBO3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ROBO3
		1 QIAGEN miScript miRNA Assays for microRNA that regulate ROBO3:
		hsa-miR-383
		SwitchGear 3'UTR luciferase reporter plasmid: ROBO3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ROBO3 (see all 3) OriGene siRNA: ROBO3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ROBO3

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ROBO3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ROBO3 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ROBO3 (NM_022370)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ROBO3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ROBO3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ROBO3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ROBO3
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ROBO3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ROBO3

Additional cDNA sequence:

AK024697.1 AK225076.1 AK291045.1 AK295475.1 AK298792.1 AY509035.1 BC008623.1 BC086878.1

BC113744.1

16 DOTS entries:

DT.40110289 DT.100840344 DT.40230585 DT.442541 DT.101955366 DT.100779566 DT.95081990 DT.95157157

DT.95157158 DT.95269684 DT.102827704 DT.120689307 DT.86853122 DT.91993768 DT.95269686 DT.121625455

24/81 AceView cDNA sequences (see all 81):

AY509035 AI797532 AL539651 BM676426 BM713722 BI914797 BQ636130 NM_022370

BI820772 AI857436 AI280275 BU621134 BX644516 BQ067030 BU631988 BI837178

BM982767 AW273440 BQ218243 CN483916 BC008623 BX461996 BM746583 BU506865

GeneLoc Exon Structure

5/18 Alternative Splicing Database (ASD) splice patterns (SP) for ROBO3 (see all 18) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18a	·	18b	·	18c	·	18d	·	18e	·	18f	·	18g	^	19	^	20	^
SP1:																																			-		-		-		-		-		-		-
SP2:
SP3:
SP4:																																																	-
SP5:																																																	-

ExUns:	21	^	22a	·	22b	·	22c	·	22d	·	22e	·	22f	·	22g	·	22h	^	23	^	24a	·	24b	·	24c	^	25	^	26	^	27	^	28a	·	28b	^	29	^	30
SP1:	-						-		-		-		-		-		-
SP2:	-												-		-		-
SP3:							-		-		-		-		-		-				-		-		-
SP4:	-						-		-		-		-		-		-		-
SP5:	-						-		-		-		-		-		-		-		-		-		-		-

ECgene alternative splicing isoforms for ROBO3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ROBO3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGTGCCACGG

About this image

ROBO3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Spinal Cord

Spinal Dorsal Columns

Dorsal Spinal Cord Progenitor Cells

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Brain

Brain

Brain

Neural Tube

Neural Tube

Neural Tube

Spinal Dorsal Columns

Spinal Cord

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ROBO3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ROBO3

SOURCE GeneReport for Unigene cluster: Hs.435621

SABiosciences Custom PCR Arrays for ROBO3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ROBO3 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ROBO3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ROBO3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ROBO3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ROBO3 gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ROBO3¹	roundabout, axon guidance receptor, homolog 3 (Drosophila)	64.91(n) 58.84(a)		100858578 XM_003642597.1 XP_003642645.1
lizard (Anolis carolinensis)	Reptilia	--	--	52(a)	1 ↔ 1	GL343367.1(395144-451859)
zebrafish (Danio rerio)	Actinopterygii	robo3¹	roundabout homolog 3	60.35(n) 55.78(a)		30770 NM_131482.2 NP_571557.1
fruit fly (Drosophila melanogaster)	Insecta	robo⁶ robo3⁶ (see all 3)	robo3 (see all 3)	23(a) 23(a) (see all 3)	many ↔ many many ↔ many (see all 3)	2R(18580029-18588467) 2L(1256426-1294687)
worm (Caenorhabditis elegans)	Secernentea	sax-3⁶	Sensory AXon guidance family member (sax-3)	25(a)	1 → many	X(3451920-3465912)

ENSEMBL Gene Tree for ROBO3 (if available)
TreeFam Gene Tree for ROBO3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ROBO3 gene

CDON² ROBO2² NEO1² ROBO1² ROBO4² IGDCC4² BOC² DCC²

PRTG² IGDCC3²

15 SIMAP similar genes for ROBO3 using alignment to 5 protein entries: ROBO3_HUMAN (see all proteins):

ROBO2 PTPRD ROBO1 PRTG PTPRF PTPRS

MUSK NRCAM HMCN2 CNTN4 FGFR4 IGDCC3

IGLV3-25 FGFR3 K-SAM

ROBO3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7111513^1,2	C,F,A,H,	--	120675742(+)	`CAGAGT/CAGGGC`	1	--	us2k¹		22		NS EA NA WA	2350
rs80224608^1,2	F,	--	120675773(+)	`TTCTAT/ACCCGA`	1	--	us2k¹		1		WA	118
rs7126462^1,2	C,F,H,	--	120676104(+)	`GATGTG/ATCTCT`	1	--	us2k¹		5		NS EA WA	538
rs75868936^1,2	F,	--	120676105(+)	`ATGTGT/CCTCTA`	1	--	us2k¹		1		WA	118
rs79005181^1,2		--	120676328(+)	`CCCGCA/CCAGAA`	1	--	us2k¹		0	--	--	--	--
rs79428142^1,2	F,	--	120676475(+)	`AATATT/CTCAAT`	1	--	us2k¹		1		NA	120
rs7126916^1,2	C,F,H,	--	120676660(+)	`GAATGC/ACCCGG`	1	--	us2k¹ tfbs³		14		NS EA NA CSA	1668
rs75214545^1,2	F,	--	120677064(+)	`AACTCC/TTAGAT`	1	--	us2k¹		1		WA	118
rs11219816^1,2	C,F,	--	120678237(+)	`CCTTCC/TCCTAC`	1	--	int¹ trp³		8		NA WA EA	368
rs78806254^1,2	F,	--	120678269(+)	`GAACCG/ATTGCT`	1	--	int¹		1		NA	120

HapMap Linkage Disequilibrium report for ROBO3 (124735282 - 124751370 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ROBO3: --
Human Gene Mutation Database (HGMD): ROBO3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ROBO3 for disorders           About GeneDecksing

OMIM gene information: 608630
OMIM disorders: 607313
UniProtKB/Swiss-Prot: ROBO3_HUMAN, Q96MS0

Defects in ROBO3 are a cause of familial horizontal gaze palsy with progressive scoliosis (HGPPS)

[MIM:607313]. Patients show a medulla where motor and sensory projections appear uncrossed

19 diseases for ROBO3: About MalaCards

horizontal gaze palsy with progressive scoliosis gaze palsy scoliosis familial horizontal gaze palsy with progressive scoliosis

gilles de la tourette syndrome duane retraction syndrome retinoblastoma vesicoureteral reflux

tourette syndrome congenital nystagmus amblyopia hyperopia

nystagmus rheumatoid arthritis hermaphroditism cervical cancer

cervicitis arthritis carcinoma

2 diseases from the University of Copenhagen DISEASES database for ROBO3:

Amblyopia Hyperopia

1 Novoseek disease relationship for ROBO3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
paralysis	63.9	8	18829051 (2), 15824346 (2), 16894121 (1), 16772357 (1) (see all 6)

Human Genome Epidemiology (HuGE) Navigator: ROBO3 (3 documents)

Export disorders for ROBO3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ROBO3 gene, integrated from 9 sources (see all 30):
(articles sorted by number of sources associating them with ROBO3)

Utopia: connect your pdf to the dynamic
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Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. (PubMed id 15105459)^{1, 2, 3, 9} Jen J.C.... Engle E.C. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Evidence for the existence of two Robo3 isoforms with divergent biochemical properties. (PubMed id 16226035)^{1, 9} Camurri L....Andrews W. (2005)
Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. (PubMed id 18829051)^{1, 9} Abu-Amero K.K....Bosley T.M. (2009)
Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. (PubMed id 15824346)^{1, 9} Bosley T.M....Baloh R.W. (2005)
Horizontal gaze palsy and progressive scoliosis due t o a deleterious mutation in ROBO3. (PubMed id 21592015)¹ Abu-Amero K.K....Bosley T.M. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Horizontal gaze palsy and progressive scoliosis witho ut ROBO3 mutations. (PubMed id 21510772)¹ Abu-Amero K.K....Bosley T.M. (2011)
RIG-I/MDA5/MAVS are required to signal a protective I FN response in rotavirus-infected intestinal epithelium. (PubMed id 21187438)¹ Broquet A.H....Kagnoff M.F. (2011)
Horizontal gaze palsy with progressive scoliosis: thr ee novel ROBO3 mutations and descriptions of the phenotypes of four patients. (PubMed id 21850172)¹ Volk A.E....Neugebauer A. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 64221	HGNC: 13433	AceView: ROBO3	Ensembl:ENSG00000154134	euGenes: HUgn64221
ECgene: ROBO3	Kegg: 64221	H-InvDB: ROBO3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ROBO3	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ROBO3

Intellectual Property for ROBO3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ROBO3 gene:
Search GeneIP for patents involving ROBO3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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roundabout, axon guidance receptor, homolog 3 (Drosophila)

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roundabout, axon guidance receptor, homolog 3 (Drosophila)

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