Gene
RAB23
RAB23, member RAS oncogene family
- HGNC 14263↗(opens in a new tab)
- Ensembl gene ENSG00000112210↗(opens in a new tab)
- NCBI Gene 51715↗(opens in a new tab)
Summary
- Cytogenetic location
- 6p12.1-p11.2
- Coordinates
- Chromosome 6: 57,186,992–57,222,307 (GRCh38)
- Exons
- 7 exons across 35.3 kb
- Protein
- 237 amino acids
- MANE Select transcript
- ENST00000468148.6NM_016277.5
- 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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Syndromic Craniosynostosis
Conditions combining early skull suture closure with other features, including Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndromes, caused by genes such as FGFR2, FGFR3, FGFR1, TWIST1, TCF12 and ERF.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Early diagnosis allows timely surgery and monitoring of head growth, vision and hearing; milder forms such as Muenke syndrome can go unrecognised in adults, which is relevant to family planning.
How RAB23 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 4.8 kb of the gene's 35.3 kb; 714 of those bases code for the protein.
How a genome test reads RAB23
33
positions in RAB23 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 35.3 kb of RAB23, introns included, not only the 4.8 kb of exons.
Genes linked to the same conditions
- CYP26B1cytochrome P450 family 26 subfamily B member 1Shares 1 condition
- ERFETS2 repressor factorShares 1 condition
- FGFR1fibroblast growth factor receptor 1Shares 1 condition
- FGFR2fibroblast growth factor receptor 2Shares 1 condition
- FGFR3fibroblast growth factor receptor 3Shares 1 condition
- IFT122intraflagellar transport 122Shares 1 condition
- IFT43intraflagellar transport 43Shares 1 condition
- IFT52intraflagellar transport 52Shares 1 condition
- IL11RAinterleukin 11 receptor subunit alphaShares 1 condition
- KAT6Alysine acetyltransferase 6AShares 1 condition
- MEGF8multiple EGF like domains 8Shares 1 condition
- MSX2msh homeobox 2Shares 1 condition
Traits linked to RAB23
The Human Phenotype Ontology lists these as features of the rare conditions RAB23 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormality of the skull
- Asymmetry of the posterior head
- Big calvaria
- Deformity of the skull
- Eye folds
- Narrow face
- Oxycephaly
- Prominent metopic ridge
Show 21 more traits
- Cloverleaf cranium shape
- Flat nose
- Tall shaped head
- Wide nose
- Absence of adult teeth
- Big foramen magnum
- Broad head shape
- Corners of eye widely separated
- Coronal craniosynostosis
- Decreased size of maxilla
- Delayed loss of baby teeth
- Depressed nasal bridge
- Early closure of midline skull joint
- Flattened bony protrusion above eyes
- High palate
- Lambdoidal craniosynostosis
- Little lower jaw
- Midface retrusion
- Pit in front of the ear
- Short neck
- Zygomatic flattening
Abnormality of limbs
- Finger syndactyly
- Fused toes
- Short fingers or toes
- Curvature of little finger
- More than five fingers or toes on hands or feet
- Short palm
- Webbed fingers or toes
- Broad thumb
Show 18 more traits
- Extra little finger
- Knock knees
- Preaxial foot polydactyly
- Club feet
- Permanent flexion of the finger
- Shortened 4th long bone of hand
- Absent/small middle bones of toe
- Absent/small middle finger bone of the hand
- Atypical position of finger
- Complete duplication of the innermost bone of the thumb
- Coxa valga
- Duplication of the innermost bone of big toe
- Front half of foot turns inward
- Joint contracture of the hand
- Lateral displacement of patellae
- Outward bow-leggedness
- Pseudoepiphyses of the proximal phalanges of the hand
- Shallow acetabular fossae
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.). RAB23 gene: RAB23, member RAS oncogene family. Retrieved 16 October 2026, from https://dantelabs.com/genes/rab23
Dante Labs. RAB23 gene: RAB23, member RAS oncogene family [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rab23
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