Gene
GPRC5B
G protein-coupled receptor class C group 5 member B
- HGNC 13308↗(opens in a new tab)
- Ensembl gene ENSG00000167191↗(opens in a new tab)
- NCBI Gene 51704↗(opens in a new tab)
Summary
- Cytogenetic location
- 16p12.3
- Coordinates
- Chromosome 16: 19,856,691–19,884,848 (GRCh38)
- Exons
- 4 exons across 28.2 kb
- Protein
- 403 amino acids
- Also known as
- RAIG-2
- MANE Select transcript
- ENST00000300571.7NM_016235.3
- 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 reports relevant to this gene
Megalencephalic Leukoencephalopathy with Subcortical Cysts
- Megalencephalic leukoencephalopathy with subcortical cysts (MLC1, HEPACAM, GPRC5B)
Causes an enlarged head from infancy with slowly progressive problems with balance, spasticity and sometimes seizures; some HEPACAM forms improve over time (remitting MLC).
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Diagnosis explains the brain imaging findings, guides seizure and supportive care and clarifies risk for relatives.
Broader groupings
Other Inherited Leukodystrophies
- Leukodystrophy (other and unspecified types)
One of 80 genes linked to it
Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.
How GPRC5B is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- 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 5.1 kb of the gene's 28.2 kb; 1,212 of those bases code for the protein.
Genes linked to the same conditions
- HEPACAMhepatic and glial cell adhesion moleculeShares 2 conditions
- MLC1modulator of VRAC current 1Shares 2 conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- AARS2alanyl-tRNA synthetase 2, mitochondrialShares 1 condition
- ABCD1ATP binding cassette subfamily D member 1Shares 1 condition
- ACER3alkaline ceramidase 3Shares 1 condition
- ADARadenosine deaminase RNA specificShares 1 condition
- AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1Shares 1 condition
- AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2Shares 1 condition
- ALDH3A2aldehyde dehydrogenase 3 family member A2Shares 1 condition
- ARSAarylsulfatase AShares 1 condition
- ASPAaspartoacylaseShares 1 condition
Traits linked to GPRC5B
The Human Phenotype Ontology lists these as features of the rare conditions GPRC5B can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Cerebral subcortical cyst
- Clumsiness
- Dementia
- Difficulty articulating speech
- Epilepsy
- Loss of ability to walk
- Progressive degeneration of movement
- Ataxia
Show 15 more traits
- Behavioral abnormality
- Delayed ability to walk
- Depression
- Diffuse swelling of cerebral white matter
- Dystonia
- Limb ataxia
- Mental deterioration
- Motor delay
- Unsteady walk
- Abnormality of extrapyramidal motor function
- Autism
- Cerebral white matter atrophy
- Intellectual disability
- Involuntary writhing movements in fingers, hands, toes, and feet
- Repeated seizures without recovery between them
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.
- 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.). GPRC5B gene: G protein-coupled receptor class C group 5 member B. Retrieved 16 October 2026, from https://dantelabs.com/genes/gprc5b
Dante Labs. GPRC5B gene: G protein-coupled receptor class C group 5 member B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gprc5b
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