Nucleolus and neural progenitor protein

Nucleolus and neural progenitor protein (NEPRO) is a protein that in humans is encoded by the NEPRO gene. ^[5]

NEPRO
Identifiers
Aliases	NEPRO, NET17, C3orf17, nucleolus and neural progenitor protein, ANXD3
External IDs	OMIM: 617089; MGI: 2384836; HomoloGene: 9127; GeneCards: NEPRO; OMA:NEPRO - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q13.2 Start 113,002,444 bp[1] End 113,019,861 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 B4 Start 44,544,664 bp[2] End 44,557,647 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte endothelial cell parietal pleura tibialis anterior muscle visceral pleura germinal epithelium pancreatic epithelial cell epithelium of nasopharynx deltoid muscle Achilles tendon Top expressed in tail of embryo otic vesicle primitive streak genital tubercle epiblast Paneth cell otic placode spermatocyte cumulus cell somite More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 25871 212547 Ensembl ENSG00000163608 ENSMUSG00000036208 UniProt Q6NW34 Q8R2U2 RefSeq (mRNA) NM_001025072 NM_001025073 NM_015412 NM_001319109 NM_001319110 NM_001319111 NM_001319112 NM_001319114 NM_001319115 NM_145972 RefSeq (protein) NP_001306038 NP_001306039 NP_001306040 NP_001306041 NP_001306043 NP_001306044 NP_056227 NP_666084 Location (UCSC) Chr 3: 113 – 113.02 Mb Chr 16: 44.54 – 44.56 Mb PubMed search [3] [4]
Wikidata
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NEPRO functions as a Notch effector for the development and maintenance of neural progenitor cells in the neocortex.^[6]

Biallelic variants in NEPRO can cause a very rare ribosomopathy known as anauxetic dysplasia type 3, which is characterized by severely impaired skeletal growth, resulting in severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations.^[7][8]