Gene
PLCZ1
phospholipase C zeta 1
- HGNC 19218↗(opens in a new tab)
- Ensembl gene ENSG00000139151↗(opens in a new tab)
- NCBI Gene 89869↗(opens in a new tab)
Summary
- Cytogenetic location
- 12p12.3
- Coordinates
- Chromosome 12: 18,683,180–18,738,012 (GRCh38)
- Exons
- 15 exons across 54.8 kb
- Protein
- 608 amino acids
- Also known as
- NYD-SP27, PLCzeta, Czeta
- MANE Select transcript
- ENST00000266505.12NM_033123.4
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Male Infertility
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
- 1 GenCC submitter rates it definitive or strong
How PLCZ1 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 2.1 kb of the gene's 54.8 kb; 1,827 of those bases code for the protein.
Sequencing PLCZ1
1Low
How hard PLCZ1 is to sequence with short reads, out of 100Each bar is the share of PLCZ1's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.0.9%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.11%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
4
positions in PLCZ1 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 54.8 kb of PLCZ1, introns included, not only the 2.1 kb of exons.
Genes linked to the same conditions
- ACTL9actin like 9Shares 1 condition
- ARMC2armadillo repeat containing 2Shares 1 condition
- AURKCaurora kinase CShares 1 condition
- BCORL1BCL6 corepressor like 1Shares 1 condition
- CFAP251cilia and flagella associated protein 251Shares 1 condition
- CFAP43cilia and flagella associated protein 43Shares 1 condition
- DMC1DNA meiotic recombinase 1Shares 1 condition
- DMRT1doublesex and mab-3 related transcription factor 1Shares 1 condition
- DNAH1dynein axonemal heavy chain 1Shares 1 condition
- DNAH10dynein axonemal heavy chain 10Shares 1 condition
- DNAH12dynein axonemal heavy chain 12Shares 1 condition
- DNAH17dynein axonemal heavy chain 17Shares 1 condition
Traits linked to PLCZ1
The Human Phenotype Ontology lists these as features of the rare conditions PLCZ1 can cause. Each trait's page lists the other genes linked to it.
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 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). PLCZ1 gene: phospholipase C zeta 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/plcz1
Dante Labs. PLCZ1 gene: phospholipase C zeta 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/plcz1
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