Gene
RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1
- HGNC 17063(opens in a new tab)
- Ensembl gene ENSG00000115839(opens in a new tab)
- NCBI Gene 22930(opens in a new tab)
Summary
- Cytogenetic location
- 2q21.3
- Coordinates
- Chromosome 2: 135,052,292–135,170,710 (GRCh38)
- Exons
- 24 exons across 118.4 kb
- Protein
- 981 amino acids
- Also known as
- RAB3GAP, KIAA0066, RAB3GAP130, WARBM1
- MANE Select transcript
- ENST00000264158.13NM_012233.3
- 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 definitive
- 4 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 RAB3GAP1 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 118.4 kb; 2,946 of those bases code for the protein.
How a genome test reads RAB3GAP1
42
positions in RAB3GAP1 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 118.4 kb of RAB3GAP1, introns included, not only the 4.9 kb of exons.
Traits linked to RAB3GAP1
The Human Phenotype Ontology lists these as features of the rare conditions RAB3GAP1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed ability to walk
- Enlarged sylvian cistern
- Global developmental delay
- Intellectual disability, severe
- Lateral ventricle dilatation
- Perisylvian polymicrogyria
- Small cerebellum
- Aplasia/Hypoplasia of the corpus callosum
Show 14 more traits
- Fewer and broader ridges in brain
- Fewer or absent grooves in brain
- Intellectual disability
- Brain degeneration
- Cerebellar vermis hypoplasia
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Delayed CNS myelination
- Increased reflexes
- Underdevelopment of part of brain called corpus callosum
- Abnormality of the cerebellum
- Epilepsy
- Peripheral neuropathy
- Agenesis of corpus callosum
- Degeneration of cerebrum
Abnormality of the musculoskeletal system
- Permanent flexion of the finger or toe
- Spastic diplegia
- Involuntary muscle stiffness, contraction, or spasm
- Joint stiffness
- Low muscle tone
- Hunched back
- Prominent swayback
- Scoliosis
Show 3 more traits
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.). RAB3GAP1 gene: RAB3 GTPase activating protein catalytic subunit 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/rab3gap1
Dante Labs. RAB3GAP1 gene: RAB3 GTPase activating protein catalytic subunit 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rab3gap1
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