Gene
PLCB4
phospholipase C beta 4
- HGNC 9059↗(opens in a new tab)
- Ensembl gene ENSG00000101333↗(opens in a new tab)
- NCBI Gene 5332↗(opens in a new tab)
Summary
- Cytogenetic location
- 20p12.3-p12.2
- Coordinates
- Chromosome 20: 9,069,087–9,480,808 (GRCh38)
- Exons
- 40 exons across 411.7 kb
- Protein
- 1,206 amino acids
- MANE Select transcript
- ENST00000378473.9NM_001377142.1
- 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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No Genome Test report reads PLCB4 yet. The test sequences your whole genome, so your data includes it all the same.
How PLCB4 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 5.7 kb of the gene's 411.7 kb; 3,621 of those bases code for the protein.
How a genome test reads PLCB4
14
positions in PLCB4 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 411.7 kb of PLCB4, introns included, not only the 5.7 kb of exons.
Traits linked to PLCB4
The Human Phenotype Ontology lists these as features of the rare conditions PLCB4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Corners of eye widely separated
- Full cheeks
- Little lower jaw
- Mandibular condyle hypoplasia
- Monobrow
- Narrow forehead
- Narrow mouth
- Skin tag behind the ear
Show 17 more traits
- Abnormality of the jaw joint
- Bad bite
- Bifid uvula
- Cleft palate
- Dental crowding
- Facial asymmetry
- Pits around the ear
- Retraction of the tongue
- Skin tag in front of the ear
- Tongue muscle weakness
- Abnormally small tongue
- Adhesion of the temporomandibular joint
- Big calvaria
- Hamartoma of tongue
- Mandibular condyle aplasia
- Round face
- Short mandibular rami
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.
- 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.). PLCB4 gene: phospholipase C beta 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/plcb4
Dante Labs. PLCB4 gene: phospholipase C beta 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/plcb4
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