Gene
ARHGEF18
Rho/Rac guanine nucleotide exchange factor 18
- HGNC 17090↗(opens in a new tab)
- Ensembl gene ENSG00000104880↗(opens in a new tab)
- NCBI Gene 23370↗(opens in a new tab)
Summary
- Cytogenetic location
- 19p13.2
- Coordinates
- Chromosome 19: 7,348,937–7,472,478 (GRCh38)
- Exons
- 29 exons across 123.5 kb
- Protein
- 1,361 amino acids
- Also known as
- P114-RhoGEF, KIAA0521, MGC15913, p114RhoGEF
- MANE Select transcript
- ENST00000668164.2NM_001367823.1
- 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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Retinitis Pigmentosa
One of 77 genes linked to it
A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.
- 2 GenCC submitters rate it definitive or strong
How ARHGEF18 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 6.7 kb of the gene's 123.5 kb; 4,086 of those bases code for the protein.
How a genome test reads ARHGEF18
5
positions in ARHGEF18 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 123.5 kb of ARHGEF18, introns included, not only the 6.7 kb of exons.
Genes linked to the same conditions
- ABCA4ATP binding cassette subfamily A member 4Shares 1 condition
- AGBL5AGBL carboxypeptidase 5Shares 1 condition
- AHRaryl hydrocarbon receptorShares 1 condition
- ARL2BPARF like GTPase 2 binding proteinShares 1 condition
- ARL3ARF like GTPase 3Shares 1 condition
- ARL6ARF like GTPase 6Shares 1 condition
- BBS2Bardet-Biedl syndrome 2Shares 1 condition
- BEST1bestrophin 1Shares 1 condition
- CA4carbonic anhydrase 4Shares 1 condition
- CC2D2Acoiled-coil and C2 domain containing 2AShares 1 condition
- CDHR1cadherin related family member 1Shares 1 condition
- CERKLCERK like autophagy regulatorShares 1 condition
Traits linked to ARHGEF18
The Human Phenotype Ontology lists these as features of the rare conditions ARHGEF18 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Decreased clarity of vision
- Difficulties with night vision
- Partial loss of field of vision
- Abnormal electroretinogram
- Abnormal retinal pigmentation
- Blindness
- Extreme sensitivity of the eyes to light
- Involuntary, rapid, rhythmic eye movements
Show 19 more traits
- Optic atrophy
- Progressive night blindness
- Retina degeneration
- Spicular pigmentation of the retina
- Visual impairment
- Abnormal central response of multifocal electroretinogram
- Abnormal full-field electroretinogram
- Bulging cornea
- Cystoid macular edema
- Eye muscle paralysis
- Glaucoma
- Loss of peripheral vision
- Optic disc drusen
- Optic disc pallor
- Photopsia
- Photoreceptor outer segment loss on macular OCT
- Posterior subcapsular cataract
- Retinal atrophy
- Abnormal color vision
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.). ARHGEF18 gene: Rho/Rac guanine nucleotide exchange factor 18. Retrieved 17 October 2026, from https://dantelabs.com/genes/arhgef18
Dante Labs. ARHGEF18 gene: Rho/Rac guanine nucleotide exchange factor 18 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/arhgef18
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