Details for: PRPH2

Gene ID: 5961

Symbol: PRPH2

Ensembl ID: ENSG00000112619

Description: peripherin 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 10.7672
    Cell Significance Index: 678.6200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 10.0186
    Cell Significance Index: -4.7300
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 3.9423
    Cell Significance Index: 55.3700
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.6841
    Cell Significance Index: 8.5400
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.3553
    Cell Significance Index: 3.1300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2913
    Cell Significance Index: 7.8100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.2203
    Cell Significance Index: 3.1600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1848
    Cell Significance Index: 10.3700
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.1272
    Cell Significance Index: 1.0500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.1250
    Cell Significance Index: 1.5500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.1066
    Cell Significance Index: 2.6000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1022
    Cell Significance Index: 20.5100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0986
    Cell Significance Index: 2.1600
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.0911
    Cell Significance Index: 1.4700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0881
    Cell Significance Index: 1.0500
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.0767
    Cell Significance Index: 0.5900
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.0610
    Cell Significance Index: 0.7400
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.0599
    Cell Significance Index: 0.8600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0502
    Cell Significance Index: 2.6400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0486
    Cell Significance Index: 17.4300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0415
    Cell Significance Index: 0.8100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0394
    Cell Significance Index: 27.2200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0164
    Cell Significance Index: 2.2500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0158
    Cell Significance Index: 0.2700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0121
    Cell Significance Index: 1.5500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0110
    Cell Significance Index: 1.9800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0086
    Cell Significance Index: 0.2200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0033
    Cell Significance Index: 0.5700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0018
    Cell Significance Index: 2.7300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0009
    Cell Significance Index: 1.6800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0006
    Cell Significance Index: -0.8000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0010
    Cell Significance Index: -1.8500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0030
    Cell Significance Index: -0.0500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0035
    Cell Significance Index: -0.5100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0036
    Cell Significance Index: -2.2700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0040
    Cell Significance Index: -0.8000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0043
    Cell Significance Index: -1.9100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0050
    Cell Significance Index: -3.6800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0052
    Cell Significance Index: -3.8200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0060
    Cell Significance Index: -3.3700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0064
    Cell Significance Index: -4.8500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0064
    Cell Significance Index: -3.4900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0066
    Cell Significance Index: -3.0200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0081
    Cell Significance Index: -5.0300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0085
    Cell Significance Index: -2.4400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0099
    Cell Significance Index: -0.6100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0101
    Cell Significance Index: -0.6800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0140
    Cell Significance Index: -1.7200
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0142
    Cell Significance Index: -0.1800
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.0168
    Cell Significance Index: -0.1900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0194
    Cell Significance Index: -4.0900
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.0196
    Cell Significance Index: -0.2100
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0214
    Cell Significance Index: -0.3100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0225
    Cell Significance Index: -0.6300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0234
    Cell Significance Index: -1.8000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0287
    Cell Significance Index: -3.2900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0301
    Cell Significance Index: -1.3300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0307
    Cell Significance Index: -3.1400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0352
    Cell Significance Index: -4.5500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0363
    Cell Significance Index: -4.2300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0363
    Cell Significance Index: -0.7600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0369
    Cell Significance Index: -2.6100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0389
    Cell Significance Index: -4.0600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0507
    Cell Significance Index: -1.9200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0536
    Cell Significance Index: -2.5000
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0561
    Cell Significance Index: -0.9000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0568
    Cell Significance Index: -4.5000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0589
    Cell Significance Index: -1.9300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0592
    Cell Significance Index: -4.4200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0597
    Cell Significance Index: -2.5900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0616
    Cell Significance Index: -2.1400
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0645
    Cell Significance Index: -0.8600
  • Cell Name: S cone cell (CL0003050)
    Fold Change: -0.0686
    Cell Significance Index: -0.8000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0737
    Cell Significance Index: -3.8300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0740
    Cell Significance Index: -3.4800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0741
    Cell Significance Index: -4.7800
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.0746
    Cell Significance Index: -0.5800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0752
    Cell Significance Index: -2.4000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0766
    Cell Significance Index: -3.8700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0812
    Cell Significance Index: -2.8600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0839
    Cell Significance Index: -1.7400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0846
    Cell Significance Index: -2.0300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0893
    Cell Significance Index: -3.1300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0911
    Cell Significance Index: -2.6000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0940
    Cell Significance Index: -3.4500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0948
    Cell Significance Index: -2.5800
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0960
    Cell Significance Index: -0.9100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0999
    Cell Significance Index: -2.1200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1011
    Cell Significance Index: -2.1600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1017
    Cell Significance Index: -2.9300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1026
    Cell Significance Index: -2.0600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1026
    Cell Significance Index: -2.9400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1057
    Cell Significance Index: -2.7800
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1119
    Cell Significance Index: -2.7900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1129
    Cell Significance Index: -2.4400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1158
    Cell Significance Index: -2.2900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1255
    Cell Significance Index: -3.1300
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1296
    Cell Significance Index: -4.1000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1321
    Cell Significance Index: -1.9500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1336
    Cell Significance Index: -3.3400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** PRPH2 is a small, cytoplasmic protein that is highly expressed in photoreceptor cells, particularly in the rod cells of the retina. It is a homodimeric protein, consisting of two identical subunits, which are organized into a heterooligomer with other peripherin family members. PRPH2 is also involved in the maturation and localization of photoreceptor outer segments, which are essential for the detection of light stimuli. The protein's ability to bind to proteins and lipids is crucial for its function, and it has been implicated in the organization of the photoreceptor outer segment disk. **Pathways and Functions:** PRPH2 is involved in several key pathways, including: 1. **Cell adhesion:** PRPH2 interacts with other proteins to regulate cell adhesion and the organization of photoreceptor outer segments. 2. **Detection of light stimulus:** PRPH2 plays a crucial role in the detection of light stimuli, which is essential for visual perception. 3. **Membrane organization:** PRPH2 is involved in the organization of the photoreceptor outer segment membrane, which is critical for the detection of light stimuli. 4. **Protein heterooligomerization:** PRPH2 interacts with other peripherin family members to form heterooligomers, which are essential for the organization and function of photoreceptor outer segments. **Clinical Significance:** PRPH2's role in visual perception makes it an attractive target for the development of novel therapeutic strategies for retinal disorders, such as: 1. **Retinitis pigmentosa:** PRPH2 mutations have been implicated in retinitis pigmentosa, a genetic disorder that affects the retina and leads to progressive vision loss. 2. **Age-related macular degeneration:** PRPH2 has been shown to play a role in the development of age-related macular degeneration, a leading cause of vision loss in older adults. 3. **Photoreceptor degeneration:** PRPH2's role in the organization and function of photoreceptor outer segments makes it an attractive target for the development of novel therapies for photoreceptor degeneration. In conclusion, PRPH2 is a protein that plays a critical role in the structure and function of photoreceptor cells in the retina. Its involvement in visual perception and its potential as a therapeutic target make it an exciting area of research for the development of novel treatments for retinal disorders. Further studies are needed to fully elucidate the mechanisms of PRPH2 and its role in visual perception, but the available evidence suggests that PRPH2 is a promising area of research with significant clinical implications.

Genular Protein ID: 3006595402

Symbol: PRPH2_HUMAN

Name: Peripherin-2

UniProtKB Accession Codes:

P23942 Q5TFH5 Q6DK65

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EMDB 1 Ensembl 1 GO 15 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 11 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 9 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1679750

Title: The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.

PubMed ID: 1679750

DOI: 10.1016/0888-7543(91)90457-p

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8956033

Title: Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.

PubMed ID: 8956033

DOI: 10.1002/(sici)1098-1004(1996)8:4<297::aid-humu1>3.0.co;2-5

PubMed ID: 1749427

Title: A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

PubMed ID: 1749427

DOI: 10.1038/354478a0

PubMed ID: 1684223

Title: Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

PubMed ID: 1684223

DOI: 10.1038/354480a0

PubMed ID: 1427912

Title: Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.

PubMed ID: 1427912

DOI: 10.1016/s0888-7543(05)80193-4

PubMed ID: 8449524

Title:

PubMed ID: 8449524

PubMed ID: 8485574

Title: Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.

PubMed ID: 8485574

DOI: 10.1038/ng0393-202

PubMed ID: 8485576

Title: Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

PubMed ID: 8485576

DOI: 10.1038/ng0393-213

PubMed ID: 7519821

Title: Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg).

PubMed ID: 7519821

DOI: 10.1016/s0002-9394(14)72913-7

PubMed ID: 8020945

Title: A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.

PubMed ID: 8020945

DOI: 10.1006/geno.1994.1142

PubMed ID: 7493155

Title: A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.

PubMed ID: 7493155

DOI: 10.3109/13816819509056911

PubMed ID: 7862413

Title: A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

PubMed ID: 7862413

DOI: 10.1016/s0161-6420(95)31029-9

PubMed ID: 9338584

Title: Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.

PubMed ID: 9338584

DOI: 10.1002/(sici)1098-1004(1997)10:4<301::aid-humu6>3.0.co;2-j

PubMed ID: 9443872

Title: Founder effect, seen in the British population, of the 172 peripherin/RDS mutation- and further refinement of genetic positioning of the peripherin/RDS gene.

PubMed ID: 9443872

DOI: 10.1086/301679

PubMed ID: 10627133

Title: Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations.

PubMed ID: 10627133

DOI: 10.1002/(sici)1098-1004(1998)12:1<70::aid-humu13>3.0.co;2-g

PubMed ID: 11485765

Title: Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.

PubMed ID: 11485765

DOI: 10.1016/s0021-5155(01)00334-3

PubMed ID: 14557182

Title: A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene.

PubMed ID: 14557182

DOI: 10.1001/archopht.121.10.1452

PubMed ID: 15370544

Title: A novel RDS/peripherin gene mutation associated with diverse macular phenotypes.

PubMed ID: 15370544

DOI: 10.1080/13816810490514388

PubMed ID: 16024869

Title: A novel mutation in the RDS gene in an Italian family with pattern dystrophy.

PubMed ID: 16024869

DOI: 10.1136/bjo.2004.064188

PubMed ID: 16832026

Title: Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.

PubMed ID: 16832026

DOI: 10.1001/archopht.124.7.1020

PubMed ID: 16799052

Title: Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

PubMed ID: 16799052

DOI: 10.1167/iovs.05-1443

PubMed ID: 17653047

Title: High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.

PubMed ID: 17653047

PubMed ID: 19038374

Title: Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

PubMed ID: 19038374

DOI: 10.1016/j.ajo.2008.09.007

PubMed ID: 20213611

Title: PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.

PubMed ID: 20213611

DOI: 10.1177/112067211002000413

PubMed ID: 20335603

Title: ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.

PubMed ID: 20335603

DOI: 10.1167/iovs.09-4655

PubMed ID: 22334370

Title: Next-generation genetic testing for retinitis pigmentosa.

PubMed ID: 22334370

DOI: 10.1002/humu.22045

PubMed ID: 26796962

Title: In vivo analysis of disease-associated point mutations unveils profound differences in mRNA splicing of peripherin-2 in rod and cone photoreceptors.

PubMed ID: 26796962

DOI: 10.1371/journal.pgen.1005811

Sequence Information:

  • Length: 346
  • Mass: 39272
  • Checksum: 287CD5100D5F291A
  • Sequence:
    • MALLKVKFDQ KKRVKLAQGL WLMNWFSVLA GIIIFSLGLF LKIELRKRSD VMNNSESHFV 
PNSLIGMGVL SCVFNSLAGK ICYDALDPAK YARWKPWLKP YLAICVLFNI ILFLVALCCF 
LLRGSLENTL GQGLKNGMKY YRDTDTPGRC FMKKTIDMLQ IEFKCCGNNG FRDWFEIQWI 
SNRYLDFSSK EVKDRIKSNV DGRYLVDGVP FSCCNPSSPR PCIQYQITNN SAHYSYDHQT 
EELNLWVRGC RAALLSYYSS LMNSMGVVTL LIWLFEVTIT IGLRYLQTSL DGVSNPEESE 
SESQGWLLER SVPETWKAFL ESVKKLGKGN QVEAEGADAG QAPEAG

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.