Gene
PPP1R12A
protein phosphatase 1 regulatory subunit 12A
- HGNC 7618↗(opens in a new tab)
- Ensembl gene ENSG00000058272↗(opens in a new tab)
- NCBI Gene 4659↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q21.2-q21.31
- Coordinates
- Chromosome 12: 79,773,568–79,935,097 (GRCh38)
- Exons
- 25 exons across 161.5 kb
- Protein
- 1,030 amino acids
- Also known as
- MBS, M130
- Previous symbols
- MYPT1
- MANE Select transcript
- ENST00000450142.7NM_002480.3
- 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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No Genome Test report reads PPP1R12A yet. The test sequences your whole genome, so your data includes it all the same.
How PPP1R12A 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 5.6 kb of the gene's 161.5 kb; 3,093 of those bases code for the protein.
How a genome test reads PPP1R12A
22
positions in PPP1R12A 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 161.5 kb of PPP1R12A, introns included, not only the 5.6 kb of exons.
Traits linked to PPP1R12A
The Human Phenotype Ontology lists these as features of the rare conditions PPP1R12A can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Global developmental delay
- Absent septum pellucidum
- Agenesis of corpus callosum
- Attention deficit
- Chiari malformation
- Colpocephaly
- Dysplastic corpus callosum
- Gray matter heterotopia
Show 2 more traits
Abnormality of the genitourinary system
- Hypospadias
- Chordee
- Undescended testes
- Double uterus
- Enlarged clitoris
- Short penis
- Streak ovary
- Urogenital sinus anomaly
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.
- 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.). PPP1R12A gene: protein phosphatase 1 regulatory subunit 12A. Retrieved 17 October 2026, from https://dantelabs.com/genes/ppp1r12a
Dante Labs. PPP1R12A gene: protein phosphatase 1 regulatory subunit 12A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ppp1r12a
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