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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RRP7A
ribosomal RNA processing 7 homolog A
Chromosome 22 Β· 22q13.2
NCBI Gene: 27341Ensembl: ENSG00000189306.13HGNC: HGNC:24286UniProt: Q9Y3A4
70PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
small-subunit processomeprotein localization to nucleolusnucleolusRNA bindingneurodegenerative diseasemicrocephaly 28, primary, autosomal recessivemicrocephalycardiac arrest
✦AI Summary

RRP7A is a nucleolar protein with dual roles in ribosome biogenesis and cellular development. Primary function: RRP7A participates in ribosomal RNA (rRNA) processing as a component of the small subunit (SSU) processome, the initial precursor of eukaryotic small ribosomal subunits 1. Within this complex, RRP7A works with ribosome biogenesis factors and RNA chaperones to facilitate RNA folding, modifications, rearrangements, and degradation of pre-rRNA 2. Mechanism: RRP7A localizes to centrosomes, cilia, and nucleoli 1. Beyond ribosome biogenesis, it functions in primary cilia resorption and cell cycle progression during neurogenesis and neocortex development 1. Disease relevance: RRP7A mutations cause microcephaly-28, an autosomal recessive primary microcephaly characterized by reduced brain size and intellectual disability 1. The pathophysiology involves defects in neuronal progenitor function, with patient-derived fibroblasts showing impaired rRNA processing, abnormal primary cilia resorption, and compromised cell cycle progression 1. Zebrafish models confirm that patient mutations reduce brain size and impair neurogenesis and cell proliferation 1. Clinical significance: RRP7A dysfunction links fundamental ribosomal biogenesis defects to neurodevelopmental pathology, elucidating mechanisms of primary microcephaly and highlighting potential therapeutic targets for this developmental disorder.

Sources cited
1
RRP7A involved in rRNA processing, primary cilia resorption, cell cycle progression in neurogenesis; localizes to centrosomes, cilia, nucleoli; missense mutations cause MCPH with defects in patient fibroblasts and zebrafish models
PMID: 33199730
2
RRP7A is part of SSU processome complex and works with ribosome biogenesis factors to facilitate RNA folding, modifications, rearrangements, and degradation
PMID: 34516797
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
neurodegenerative diseaseOpen Targets
0.42Moderate
microcephaly 28, primary, autosomal recessiveOpen Targets
0.33Weak
microcephalyOpen Targets
0.19Weak
cardiac arrestOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
teratocarcinomaOpen Targets
0.01Suggestive
amebiasisOpen Targets
0.00Suggestive
colon carcinomaOpen Targets
0.00Suggestive
Neurodevelopmental disorderOpen Targets
0.00Suggestive
Primary microcephalyOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Intellectual disabilityOpen Targets
0.00Suggestive
infertilityOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Uveal MelanomaOpen Targets
0.00Suggestive
Microcephaly 28, primary, autosomal recessiveUniProt
Pathogenic Variants1
NM_015703.5(RRP7A):c.465G>C (p.Trp155Cys)Pathogenic
Microcephaly 28, primary, autosomal recessive
β˜†β˜†β˜†β˜†2025β†’ Residue 155
View on ClinVar β†—
Related Genes
MCCProtein interaction100%NOP14Protein interaction100%BMS1Protein interaction100%DDX52Protein interaction100%PDCD11Protein interaction100%AATFProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
87%
Ovary
85%
Liver
84%
Lung
70%
Heart
60%
Gene Interaction Network
Click a node to explore
RRP7AMCCNOP14BMS1DDX52PDCD11AATF
PROTEIN STRUCTURE
Preparing viewer…
PDB7MQA Β· 2.70 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.30LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.95 [0.70–1.30]
RankingsWhere RRP7A stands among ~20K protein-coding genes
  • #6,755of 20,598
    Most Researched70
  • #5,000of 5,498
    Most Pathogenic Variants1
  • #13,731of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedRRP7A
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.
PMID: 35459861
Cell Death Dis Β· 2022
1.00
2
Identification of critical genes and drug repurposing targets in entorhinal cortex of Alzheimer's disease.
PMID: 39928227
Neurogenetics Β· 2025
0.75
3
Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report.
PMID: 33308209
BMC Med Genomics Β· 2020
0.50
4
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
PMID: 33199730
Nat Commun Β· 2020
0.25