RPGR
protein-coding gene in the species Homo sapiens
Facts
13 properties- Instance of
- gene
- Subclass of
- protein-coding gene
- Chromosome
- human X chromosome[13]
- Cytogenetic location
- Xp11.4[19]
- Encodes
- Retinitis pigmentosa GTPase regulator, X-linked retinitis pigmentosa GTPase regulator[10][11]
- Expressed in
- sperm, bronchial epithelial cell, right uterine tube, right lung, anterior pituitary, mucosa of paranasal sinus, tibial nerve, subcutaneous adipose tissue, Epithelium of choroid plexus, upper lobe of left lung[20][21][22][23][24][25][26][27][28][29]
- Found in taxon
- Homo sapiens[12]
- Genetic association
- retinitis pigmentosa 3, X-linked cone-rod dystrophy 1, cone-rod dystrophy, primary ciliary dyskinesia-retinitis pigmentosa syndrome[14][15][16][17]
- HomoloGene ID
- 55455[3]
- Strand orientation
- reverse strand[18]
🏷️ Also known as
en COD1
en CORDX1
en CRD
en orf15
en PCDX
en Retinitis pigmentosa GTPase regulator
en RP15
en RP3
en RPGR
en XLRP3
ru Регулятор GTPase Х-хромосомного пигментного ретинита
🔖 Identifiers · 11
- Ensembl gene ID
- ENSG00000156313
- Ensembl transcript ID
- ENST00000494841, ENST00000318842, ENST00000339363, ENST00000378505, ENST00000464437, ENST00000470183, ENST00000474584, ENST00000476559, ENST00000482855, ENST00000494707, ENST00000642739, ENST00000645124, ENST00000644238, ENST00000642558, ENST00000645032, ENST00000642373, ENST00000642170, ENST00000644337, ENST00000646020, ENST00000647261, ENST00000642395
- Entrez Gene ID
- 6103
- Exact match
- identifiers.org
- Freebase ID
- /m/03gttzf
- HGNC ID
- 10295
- HGNC gene symbol
- RPGR
- Microsoft Academic ID (discontinued)
- 2780927779
- OMIM ID
- 312610
- RefSeq RNA ID
- XM_011543940, NM_000328, NM_001023582, NM_001034853, XM_005272633, XM_017029712
- UMLS CUI
- C1419623
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