PRPH2
protein-coding gene in the species Homo sapiens
Facts
13 properties- Instance of
- gene
- Subclass of
- protein-coding gene[2]
- Chromosome
- human chromosome 6[13]
- Cytogenetic location
- 6p21.1[17]
- Encodes
- Peripherin 2[11]
- Expressed in
- quadriceps femoris muscle, vastus lateralis muscle, muscle of thigh, deltoid muscle, testicle, gastrocnemius muscle, gonad, muscle of arm, biceps brachii, Skeletal muscle tissue of biceps brachii[18][19][20][21][22][23][24][25][26][27]
- Found in taxon
- Homo sapiens[12]
- Genetic association
- retinitis pigmentosa 7, patterned macular dystrophy[14][15]
- HomoloGene ID
- 273[3]
- Strand orientation
- reverse strand[16]
🏷️ Also known as
en AOFMD
en AVMD
en CACD2
en DS
en MDBS1
en Peripherin 2
en peripherin 2 (retinal degeneration, slow)
en PRPH
en PRPH2
en rd2
en RDS
en RP7
en TSPAN22
ru Периферин 2
🔖 Identifiers · 11
- Ensembl gene ID
- ENSG00000112619
- Ensembl transcript ID
- ENST00000230381
- Entrez Gene ID
- 5961
- Exact match
- identifiers.org
- Freebase ID
- /m/03gvpxl
- HGNC ID
- 9942
- HGNC gene symbol
- PRPH2
- Microsoft Academic ID (discontinued)
- 2778662372
- OMIM ID
- 179605
- RefSeq RNA ID
- NM_000322, XR_007059288
- UMLS CUI
- C1826711
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Summary
PRPH2 is a gene[1].