Proline-rich protein 30

PRR30
Identifiers
Aliases	PRR30, C2orf53, proline rich 30
External IDs	MGI: 1923877; HomoloGene: 130773; GeneCards: PRR30; OMA:PRR30 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	27,139,410 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	101,437,766 bp
RNA expression pattern
	Top expressed in
	left testis; ; right testis; ; sperm; ; testicle; ; lactiferous gland; ; amniotic fluid; ; blood; ; human musculoskeletal system; ; muscular system; ; muscle;
	Top expressed in
	seminiferous tubule; ; spermatid; ; spermatocyte; ; dentate gyrus of hippocampal formation granule cell; ; medial geniculate nucleus; ; islet of Langerhans; ; liver; ; embryo; ; developmental structure; ; embryonic structure;
	More reference expression data
	n/a
Orthologs
	339779
	76627
	ENSG00000186143
	ENSMUSG00000042888
	Q53SZ7
	Q9D9B7
	NM_178553
	NM_029680
	NP_848648
	NP_083956
	Wikidata
View/Edit Human	View/Edit Mouse

Proline-rich protein 30 (PRR30 or C2orf53) is a protein in humans that is encoded for by the PRR30 gene.^[5] PRR30 is a member in the family of Proline-rich proteins characterized by their intrinsic lack of structure. Copy number variations in the PRR30 gene have been associated with an increased risk for neurofibromatosis.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000186143 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000042888 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Lamesch P, Li N, Milstein S, Fan C, Hao T, Szabo G, et al. (March 2007). "hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes". Genomics. 89 (3): 307–315. doi:10.1016/j.ygeno.2006.11.012. PMC 4647941. PMID 17207965.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000186143 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000042888 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Lamesch P, Li N, Milstein S, Fan C, Hao T, Szabo G, et al. (March 2007). "hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes". Genomics. 89 (3): 307–315. doi:10.1016/j.ygeno.2006.11.012. PMC 4647941. PMID 17207965.

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