Gene
ROBO1
roundabout guidance receptor 1
- HGNC 10249↗(opens in a new tab)
- Ensembl gene ENSG00000169855↗(opens in a new tab)
- NCBI Gene 6091↗(opens in a new tab)
Summary
- Cytogenetic location
- 3p12.3
- Coordinates
- Chromosome 3: 78,597,239–79,767,998 (GRCh38)
- Exons
- 31 exons across 1,170.8 kb
- Protein
- 1,651 amino acids
- Also known as
- DUTT1, FLJ21882, SAX3
- MANE Select transcript
- ENST00000464233.6NM_002941.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Hypogonadotropic Hypogonadism
Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.
- 2 GenCC submitters rate it definitive or strong
Non-Acquired Combined Pituitary Hormone Deficiency
- Combined pituitary hormone deficiency, genetic form
Inherited deficiency of several pituitary hormones, including PROP1, POU1F1, HESX1 and related causes.
- 2 GenCC submitters rate it definitive or strong
How ROBO1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.9 kb of the gene's 1,170.8 kb; 4,956 of those bases code for the protein.
How a genome test reads ROBO1
14
positions in ROBO1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 1,170.8 kb of ROBO1, introns included, not only the 6.9 kb of exons.
Genes linked to the same conditions
- FOXA2forkhead box A2Shares 2 conditions
- GH1growth hormone 1Shares 2 conditions
- GHRHRgrowth hormone releasing hormone receptorShares 2 conditions
- HESX1HESX homeobox 1Shares 2 conditions
- LHX3LIM homeobox 3Shares 2 conditions
- LHX4LIM homeobox 4Shares 2 conditions
- OTX2orthodenticle homeobox 2Shares 2 conditions
- POU1F1POU class 1 homeobox 1Shares 2 conditions
- PROP1PROP paired-like homeobox 1Shares 2 conditions
- RNPC3RNA binding region (RNP1, RRM) containing 3Shares 2 conditions
- SOX3SRY-box transcription factor 3Shares 2 conditions
- TBX19T-box transcription factor 19Shares 2 conditions
Traits linked to ROBO1
The Human Phenotype Ontology lists these as features of the rare conditions ROBO1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the endocrine system
- Central hypothyroidism
- Decreased circulating ACTH concentration
- Decreased circulating insulin-like growth factor 1 concentration
- Ectopic posterior pituitary
- Low blood cortisol level
- Reduced circulating growth hormone concentration
- Abnormality of the hypothalamus-pituitary axis
- Underdeveloped pituitary gland
Show 10 more traits
Abnormality of the genitourinary system
- Undescended testes
- Hyperechogenic kidneys
- Absent kidney on one side
- Bilateral renal agenesis
- Stage 2 chronic kidney disease
- Underdeveloped bladder
- Underdeveloped penis
- Primary amenorrhea
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ROBO1 gene: roundabout guidance receptor 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/robo1
Dante Labs. ROBO1 gene: roundabout guidance receptor 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/robo1
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