Gene
PPP2R5D
protein phosphatase 2 regulatory subunit B'delta
- HGNC 9312↗(opens in a new tab)
- Ensembl gene ENSG00000112640↗(opens in a new tab)
- NCBI Gene 5528↗(opens in a new tab)
Summary
- Cytogenetic location
- 6p21.1
- Coordinates
- Chromosome 6: 42,984,570–43,012,342 (GRCh38)
- Exons
- 16 exons across 27.8 kb
- Protein
- 602 amino acids
- Also known as
- B56D, B56delta
- MANE Select transcript
- ENST00000485511.6NM_006245.4
- 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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Intellectual Disability
One of 233 genes linked to it
- 5 GenCC submitters rate it definitive or strong
How PPP2R5D 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 3 kb of the gene's 27.8 kb; 1,809 of those bases code for the protein.
How a genome test reads PPP2R5D
16
positions in PPP2R5D 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 27.8 kb of PPP2R5D, introns included, not only the 3 kb of exons.
Genes linked to the same conditions
- ACSL4acyl-CoA synthetase long chain family member 4Shares 1 condition
- ADKadenosine kinaseShares 1 condition
- ADNPactivity dependent neuroprotector homeoboxShares 1 condition
- AFF2ALF transcription elongation factor 2Shares 1 condition
- AHDC1AT-hook DNA binding motif containing 1Shares 1 condition
- ALKBH8alkB homolog 8, tRNA methyltransferaseShares 1 condition
- ANK3ankyrin 3Shares 1 condition
- ANKRD11ankyrin repeat domain 11Shares 1 condition
- AP1S2adaptor related protein complex 1 subunit sigma 2Shares 1 condition
- AP2M1adaptor related protein complex 2 subunit mu 1Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARID1AAT-rich interaction domain 1AShares 1 condition
Traits linked to PPP2R5D
The Human Phenotype Ontology lists these as features of the rare conditions PPP2R5D can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed speech and language development
- Intellectual disability
- Delayed ability to walk
- Global developmental delay
- Abnormal temper tantrums
- Absent speech development
- Aggressive behavior
- Autism spectrum disorder
Show 18 more traits
- Inability to coordinate movements when walking
- Intellectual disability, severe
- IQ between 34 and 49
- Low frustration tolerance
- Poor speech
- Repetitive movements
- Unsteady walk
- Abnormal cerebral white matter morphology
- Abnormal corpus callosum morphology
- Ataxia
- Cavum septum pellucidum
- Epilepsy
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Lateral ventricle dilatation
- Multifocal seizures
- Too much cerebrospinal fluid in the brain
- Ventriculomegaly
- Absent reflexes
Abnormality of the eye
- Abnormality of the eye
- Close sighted
- Cross-eyed
- Deeply set eye
- Drooping upper eyelid
- Alternating cross eyes
- Astigmatism
- Rotary nystagmus
Show 1 more trait
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.). PPP2R5D gene: protein phosphatase 2 regulatory subunit B'delta. Retrieved 16 October 2026, from https://dantelabs.com/genes/ppp2r5d
Dante Labs. PPP2R5D gene: protein phosphatase 2 regulatory subunit B'delta [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ppp2r5d
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