Gene
RAB18
RAB18, member RAS oncogene family
- HGNC 14244↗(opens in a new tab)
- Ensembl gene ENSG00000099246↗(opens in a new tab)
- NCBI Gene 22931↗(opens in a new tab)
Summary
- Cytogenetic location
- 10p12.1
- Coordinates
- Chromosome 10: 27,504,304–27,542,239 (GRCh38)
- Exons
- 7 exons across 37.9 kb
- Protein
- 206 amino acids
- MANE Select transcript
- ENST00000356940.11NM_021252.5
- 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 report relevant to this gene
Microphthalmia, Anophthalmia & Coloboma
- Syndromic Microphthalmia
Microphthalmia occurring with features outside the eye, caused by changes in genes such as SOX2, OTX2, BCOR, STRA6 and BMP4.
- ClinGen rates the link moderate
- 3 GenCC submitters rate it definitive or strong
What knowing changes
A genetic diagnosis guides checks for associated features, such as pituitary hormone problems with SOX2 or OTX2, and informs recurrence risk.
How RAB18 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 4.9 kb of the gene's 37.9 kb; 621 of those bases code for the protein.
How a genome test reads RAB18
4
positions in RAB18 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 37.9 kb of RAB18, introns included, not only the 4.9 kb of exons.
Genes linked to the same conditions
- BCORBCL6 corepressorShares 1 condition
- BMP4bone morphogenetic protein 4Shares 1 condition
- COX7Bcytochrome c oxidase subunit 7BShares 1 condition
- ERCC1ERCC excision repair 1, endonuclease non-catalytic subunitShares 1 condition
- ERCC2ERCC excision repair 2, TFIIH core complex helicase subunitShares 1 condition
- ERCC5ERCC excision repair 5, endonucleaseShares 1 condition
- FAT1FAT atypical cadherin 1Shares 1 condition
- HCCSholocytochrome c synthaseShares 1 condition
- HMX1H6 family homeobox 1Shares 1 condition
- MAB21L2mab-21 like 2Shares 1 condition
- NDUFB11NADH:ubiquinone oxidoreductase subunit B11Shares 1 condition
- OTX2orthodenticle homeobox 2Shares 1 condition
Traits linked to RAB18
The Human Phenotype Ontology lists these as features of the rare conditions RAB18 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Global developmental delay
- Inability to walk
- Aplasia/Hypoplasia of the corpus callosum
- Fewer and broader ridges in brain
- Fewer or absent grooves in brain
- Intellectual disability, severe
- Underdevelopment of part of brain called corpus callosum
- Decrease in size of the outer layer of the brain due to loss of brain cells
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.). RAB18 gene: RAB18, member RAS oncogene family. Retrieved 16 October 2026, from https://dantelabs.com/genes/rab18
Dante Labs. RAB18 gene: RAB18, member RAS oncogene family [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rab18
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