PLAC4 placenta enriched 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLAC4provided by HGNC
Official Full Name: placenta enriched 4provided by HGNC
Primary source: HGNC:HGNC:14616
See related: MIM:613770; AllianceGenome:HGNC:14616
Gene type: ncRNA
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PRED78; C21orf115
Summary: Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

Location:: 21q22.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (41175231..41185239, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (39563563..39573571, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (42547158..42557166, complement)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

For samples with heterozygous SNPs, PLAC4 RNA-SNP allelic ratio can be used for noninvasive prenatal detection of trisomy 21 by the multiplex SNaPshot assay. In Southeast China, PLAC4 Rs8130833 and Rs4818219 had higher frequency of heterozygosity.
Title: Application of multiplex SNaPshot assay in measurement of PLAC4 RNA-SNP allelic ratio for noninvasive prenatal detection of trisomy 21.
PLAC4 is upregulated in severe early onset preeclampsia and upregulated with syncytialisation but not hypoxia.
Title: PLAC4 is upregulated in severe early onset preeclampsia and upregulated with syncytialisation but not hypoxia.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
For prenatal screening of trisomy 21, the quantification of the total PLAC4 mRNA concentration can be used in a synergistic manner with the RNA-SNP allelic ratio approach
Title: Synergy of total PLAC4 RNA concentration and measurement of the RNA single-nucleotide polymorphism allelic ratio for the noninvasive prenatal detection of trisomy 21.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-87652 (e-PCR)
- UniSTS:13317

D11S2921 (e-PCR)
- UniSTS:152074

PMC310729P6 (e-PCR)
- UniSTS:272655

STS_CEB270 (e-PCR)
- UniSTS:255263

PLAC4_3729 (e-PCR)
- UniSTS:462416

SHGC-52036 (e-PCR)
- UniSTS:35668

D21S418E (e-PCR)
- UniSTS:148066

NoName (e-PCR)
- UniSTS:483705

SHGC-52055 (e-PCR)
- UniSTS:78223

RH45177 (e-PCR)
- UniSTS:68012

G20436 (e-PCR)
- UniSTS:3245

A005R16 (e-PCR)
- UniSTS:3246

STS-T66917 (e-PCR)
- UniSTS:70839

SHGC-87646 (e-PCR)
- UniSTS:35525

RH79591 (e-PCR)
- UniSTS:89803

WI-11358 (e-PCR)
- UniSTS:20989

WI-17388 (e-PCR)
- UniSTS:20990

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.