Prph2 (peripherin 2) - Rat Genome Database

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Gene: Prph2 (peripherin 2) Mus musculus
Analyze
Symbol: Prph2
Name: peripherin 2
RGD ID: 735710
MGI Page MGI
Description: Enables protein homodimerization activity. Acts upstream of or within several processes, including detection of light stimulus involved in visual perception; photoreceptor cell outer segment organization; and protein complex oligomerization. Located in photoreceptor outer segment. Is expressed in eye; head; retina; and retina outer nuclear layer. Used to study partial central choroid dystrophy; patterned macular dystrophy 1; and retinitis pigmentosa 7. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; eye degenerative disease (multiple); and fundus albipunctatus. Orthologous to human PRPH2 (peripherin 2).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AOFMD; AVMD; Nmf19; Nmf193; peripherin-2; PRPH; r; Rd; Rd-2; Rd2; Rds; retinal degeneration 2; retinal degeneration slow protein; retinal degeneration, slow (retinitis pigmentosa 7); RP7; Tsp; Tspan22
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391747,221,404 - 47,235,859 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1747,221,385 - 47,235,859 (+)EnsemblGRCm39 Ensembl
GRCm381746,910,478 - 46,924,933 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1746,910,459 - 46,924,933 (+)EnsemblGRCm38mm10GRCm38
MGSCv371747,047,434 - 47,061,875 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361746,373,676 - 46,388,117 (+)NCBIMGSCv36mm8
Celera1750,346,402 - 50,360,871 (+)NCBICelera
Cytogenetic Map17CNCBI
cM Map1722.91NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal cone electrophysiology  (IAGP)
abnormal electroretinogram waveform feature  (IAGP)
abnormal eye development  (IAGP)
abnormal eye electrophysiology  (IAGP)
abnormal macrophage morphology  (IAGP)
abnormal Muller cell morphology  (IAGP)
abnormal ocular fundus morphology  (IAGP)
abnormal photoreceptor inner segment morphology  (IAGP)
abnormal photoreceptor outer segment disc membrane morphology  (IAGP)
abnormal photoreceptor outer segment morphology  (IAGP)
abnormal retina cone cell inner segment morphology  (IAGP)
abnormal retina cone cell morphology  (IAGP)
abnormal retina cone cell outer segment morphology  (IAGP)
abnormal retina development  (IAGP)
abnormal retina layer morphology  (IAGP)
abnormal retina morphology  (IAGP)
abnormal retina neuronal layer morphology  (IAGP)
abnormal retina outer nuclear layer morphology  (IAGP)
abnormal retina outer plexiform layer morphology  (IAGP)
abnormal retina photoreceptor layer morphology  (IAGP)
abnormal retina photoreceptor morphology  (IAGP)
abnormal retina pigment epithelium morphology  (IAGP)
abnormal retina rod cell outer segment morphology  (IAGP)
abnormal retina vasculature morphology  (IAGP)
abnormal rod electrophysiology  (IAGP)
abnormal synapse morphology  (IAGP)
absent photoreceptor outer segment  (IAGP)
absent retina cone cells  (IAGP)
absent retina rod cells  (IAGP)
decreased a-wave amplitude  (IAGP)
decreased b-wave amplitude  (IAGP)
decreased retina rod cell number  (IAGP)
decreased total retina thickness  (IAGP)
decreased visual acuity  (IAGP)
disorganized photoreceptor inner segment  (IAGP)
disorganized photoreceptor outer segment  (IAGP)
disorganized retina outer nuclear layer  (IAGP)
eye inflammation  (IAGP)
increased microglial cell activation  (IAGP)
increased retina apoptosis  (IAGP)
increased retina cone cell number  (IAGP)
increased susceptibility to age-related retinal degeneration  (IAGP)
retina degeneration  (IAGP)
retina gliosis  (IAGP)
retina neovascularization  (IAGP)
retina outer nuclear layer degeneration  (IAGP)
retina photoreceptor degeneration  (IAGP)
retina spots  (IAGP)
short photoreceptor inner segment  (IAGP)
short photoreceptor outer segment  (IAGP)
thick retina inner nuclear layer  (IAGP)
thin retina outer nuclear layer  (IAGP)
thin retina outer plexiform layer  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Ali RR, etal., Nat Genet. 2000 Jul;25(3):306-10.
2. Peripherin/RDS gene in Indonesian patients with retinitis pigmentosa: geographic comparison of polymorphic variations. Budu, etal., Hiroshima J Med Sci. 2005 Sep;54(3):73-6.
3. Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome. Chakraborty D, etal., PLoS One. 2013 May 1;8(5):e63321. doi: 10.1371/journal.pone.0063321. Print 2013.
4. Genes and mutations causing retinitis pigmentosa. Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19.
5. Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS. Ekstrom U, etal., Ophthalmic Genet. 1998 Mar;19(1):27-37.
6. Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome. Fakin A, etal., Vision Res. 2012 Dec 15;75:71-6. doi: 10.1016/j.visres.2012.07.011. Epub 2012 Jul 25.
7. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Felbor U, etal., Hum Mutat. 1997;10(4):301-9.
8. Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. Fishman GA, etal., Ophthalmology. 1997 Feb;104(2):299-306.
9. Analysis of peripherin/RDS gene for Japanese retinal dystrophies. Fujiki K, etal., Jpn J Ophthalmol. 1998 May-Jun;42(3):186-92.
10. A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. Gorin MB, etal., Ophthalmology. 1995 Feb;102(2):246-55.
11. Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene. Hoyng CB, etal., Am J Ophthalmol. 1996 Jun;121(6):623-9.
12. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Kajiwara K, etal., Nat Genet. 1993 Mar;3(3):208-12.
13. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Kajiwara K, etal., Nature. 1991 Dec 12;354(6353):480-3.
14. Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors. Kedzierski W, etal., Invest Ophthalmol Vis Sci. 1997 Feb;38(2):498-509.
15. Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene. Keilhauer CN, etal., Arch Ophthalmol. 2006 Jul;124(7):1020-7.
16. Autosomal dominant pattern dystrophy: identification of a novel splice site mutation in the peripherin/RDS gene. Khoubian FJ, etal., Retina. 2005 Dec;25(8):999-1004.
17. Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene. McNally N, etal., Hum Mol Genet. 2002 May 1;11(9):1005-16.
18. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
19. MGDs mouse GO annotations MGD data from the GO Consortium
20. Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene. Nakazawa M, etal., Arch Ophthalmol. 1994 Dec;112(12):1567-73.
21. Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene. Nakazawa M, etal., Retina. 1996;16(5):405-10.
22. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nichols BE, etal., Nat Genet. 1993 Mar;3(3):202-7.
23. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
24. A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy. Pajic B, etal., Retina. 2006 Oct;26(8):947-53.
25. Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene. Passerini I, etal., Eur J Ophthalmol. 2007 Nov-Dec;17(6):1000-3.
26. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
27. ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Poloschek CM, etal., Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4253-65. doi: 10.1167/iovs.09-4655. Epub 2010 Mar 24.
28. Mouse MP Annotation Import Pipeline RGD automated import pipeline
29. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
30. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
31. A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa. Saga M, etal., Hum Genet. 1993 Nov;92(5):519-21.
32. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Travis GH, etal., Nature. 1989 Mar 2;338(6210):70-3.
33. A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene. van Lith-Verhoeven JJ, etal., Arch Ophthalmol. 2003 Oct;121(10):1452-7.
34. Linkage map of mouse chromosome 17: localization of 27 new DNA markers. Vincek V, etal., Genomics 1989 Nov;5(4):773-86.
35. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. Wang X, etal., J Med Genet. 2013 Oct;50(10):674-88. doi: 10.1136/jmedgenet-2013-101558. Epub 2013 Jul 11.
36. Demonstration of peripherin/rds mRNA in normal and light-damaged rat retinas by in situ hybridization histochemistry. Yanagita T, etal., Jpn J Ophthalmol. 1993;37(1):1-8.
37. [The study of RDS gene mutation and clinical phenotype in a family with primary retinitis pigmentosa]. Yang H, etal., Zhonghua Yan Ke Za Zhi. 2000 Jan;36(1):52-5, 6, 7.
38. A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy. Yang Z, etal., Am J Ophthalmol. 2003 Feb;135(2):213-8.
39. A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. Yang Z, etal., Ophthalmic Genet. 2004 Jun;25(2):133-45.
Additional References at PubMed
PMID:225287   PMID:419532   PMID:705766   PMID:1381682   PMID:1385966   PMID:1387105   PMID:1464973   PMID:1573048   PMID:1579993   PMID:1815604   PMID:1874976   PMID:1882077  
PMID:1986774   PMID:1992463   PMID:2137350   PMID:2144827   PMID:2591498   PMID:3005510   PMID:3417421   PMID:3798752   PMID:3830736   PMID:6327341   PMID:6483282   PMID:6715580  
PMID:6799615   PMID:6816725   PMID:7207866   PMID:7274354   PMID:7440795   PMID:7479945   PMID:7558020   PMID:7558022   PMID:7601475   PMID:7605616   PMID:7926807   PMID:7953658  
PMID:8112464   PMID:8157095   PMID:8274758   PMID:8302876   PMID:8398150   PMID:8485572   PMID:8486383   PMID:8491565   PMID:8530028   PMID:8603863   PMID:8654508   PMID:8698078  
PMID:8769098   PMID:8816281   PMID:8889548   PMID:8956033   PMID:9330629   PMID:9334387   PMID:9501871   PMID:9592088   PMID:9746439   PMID:9801367   PMID:9811942   PMID:9886097  
PMID:10349636   PMID:10493779   PMID:10600408   PMID:10704489   PMID:10814838   PMID:11042159   PMID:11076861   PMID:11082482   PMID:11217851   PMID:11427722   PMID:11431433   PMID:11446777  
PMID:11545639   PMID:11689482   PMID:11773012   PMID:11853768   PMID:12466851   PMID:12477932   PMID:12714665   PMID:12866125   PMID:14610273   PMID:14962744   PMID:15226823   PMID:15254014  
PMID:15284225   PMID:15489334   PMID:15539463   PMID:15656787   PMID:15676071   PMID:15779916   PMID:15872101   PMID:15964665   PMID:16141072   PMID:16141073   PMID:16154566   PMID:16332269  
PMID:16419083   PMID:16585269   PMID:16602821   PMID:16626700   PMID:17044933   PMID:17249567   PMID:17260955   PMID:17591862   PMID:17653052   PMID:17722028   PMID:17976582   PMID:18055786  
PMID:18394674   PMID:18641281   PMID:18763016   PMID:18776951   PMID:18834879   PMID:18925574   PMID:19050038   PMID:19187097   PMID:19219045   PMID:19358158   PMID:19591826   PMID:20055437  
PMID:20238000   PMID:20238003   PMID:20357188   PMID:20447394   PMID:20858597   PMID:21051333   PMID:21052544   PMID:21209198   PMID:21283520   PMID:21421996   PMID:21873635   PMID:22183390  
PMID:22183407   PMID:22363631   PMID:22393024   PMID:22427845   PMID:23121719   PMID:23248312   PMID:23342122   PMID:23469133   PMID:23716657   PMID:23773177   PMID:24463884   PMID:24569582  
PMID:24736412   PMID:24963162   PMID:25001182   PMID:25249601   PMID:25392995   PMID:25476906   PMID:25512545   PMID:25793273   PMID:26406599   PMID:26420485   PMID:26720471   PMID:26796962  
PMID:26934134   PMID:27033727   PMID:27116862   PMID:27328943   PMID:27365499   PMID:28053051   PMID:28381413   PMID:28723922   PMID:29571629   PMID:29961824   PMID:30048641   PMID:30307502  
PMID:30446775   PMID:30819798   PMID:30924851   PMID:31614793   PMID:31843915   PMID:31914632   PMID:32290105   PMID:32313077   PMID:32655363   PMID:32716032   PMID:32744119   PMID:32778589  
PMID:33493166   PMID:33500475   PMID:33707293   PMID:34494680   PMID:35344225   PMID:35563009   PMID:36088804   PMID:36293380   PMID:36396639   PMID:36799552   PMID:37914688   PMID:37991486  
PMID:38365903   PMID:38834544  


Genomics

Comparative Map Data
Prph2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391747,221,404 - 47,235,859 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1747,221,385 - 47,235,859 (+)EnsemblGRCm39 Ensembl
GRCm381746,910,478 - 46,924,933 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1746,910,459 - 46,924,933 (+)EnsemblGRCm38mm10GRCm38
MGSCv371747,047,434 - 47,061,875 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361746,373,676 - 46,388,117 (+)NCBIMGSCv36mm8
Celera1750,346,402 - 50,360,871 (+)NCBICelera
Cytogenetic Map17CNCBI
cM Map1722.91NCBI
PRPH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38642,696,598 - 42,722,597 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl642,696,598 - 42,722,597 (-)EnsemblGRCh38hg38GRCh38
GRCh37642,664,336 - 42,690,335 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36642,772,314 - 42,798,287 (-)NCBINCBI36Build 36hg18NCBI36
Build 34642,772,317 - 42,798,287NCBI
Celera644,216,617 - 44,242,609 (-)NCBICelera
Cytogenetic Map6p21.1NCBI
HuRef642,382,731 - 42,408,581 (-)NCBIHuRef
CHM1_1642,666,888 - 42,692,860 (-)NCBICHM1_1
T2T-CHM13v2.0642,525,027 - 42,556,549 (-)NCBIT2T-CHM13v2.0
Prph2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8921,563,770 - 21,579,074 (-)NCBIGRCr8
mRatBN7.2914,066,149 - 14,081,454 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl914,066,156 - 14,081,454 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx922,647,971 - 22,663,265 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0927,711,982 - 27,727,288 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0926,011,338 - 26,026,628 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0916,085,933 - 16,386,176 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0915,002,816 - 15,006,668 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.499,251,024 - 9,272,513 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.199,248,345 - 9,269,835 (-)NCBI
Celera911,815,281 - 11,829,854 (-)NCBICelera
RH 3.4 Map960.5RGD
Cytogenetic Map9q12NCBI
Prph2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554378,782,183 - 8,795,017 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554378,784,211 - 8,794,789 (-)NCBIChiLan1.0ChiLan1.0
PRPH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2557,192,804 - 57,219,873 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1653,060,828 - 53,089,239 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0642,284,818 - 42,316,150 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1643,582,317 - 43,608,011 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl643,582,317 - 43,608,011 (-)Ensemblpanpan1.1panPan2
PRPH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11211,299,236 - 11,316,175 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1211,299,236 - 11,316,175 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1211,326,457 - 11,343,396 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01211,780,500 - 11,797,719 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1211,780,500 - 11,797,719 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11211,308,736 - 11,325,675 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01211,393,617 - 11,410,600 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01211,487,294 - 11,504,233 (-)NCBIUU_Cfam_GSD_1.0
Prph2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494646,785,976 - 46,800,438 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647617,160,016 - 17,173,981 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647617,159,756 - 17,174,226 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRPH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl737,790,178 - 37,805,142 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1737,788,547 - 37,805,142 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2743,265,462 - 43,270,328 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRPH2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11729,429,876 - 29,456,013 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1729,430,545 - 29,453,636 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604442,728,399 - 42,754,586 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prph2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475416,685,378 - 16,700,111 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475416,685,512 - 16,699,145 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Prph2
614 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:602
Count of miRNA genes:423
Interacting mature miRNAs:479
Transcripts:ENSMUST00000024773, ENSMUST00000162469
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1301331Lbw1_mlupus NZB x NZW 1 (mouse)Not determined171841835752420983Mouse
26884379Skwq5_mskull length QTL 5, 5 week (mouse)173311897454107028Mouse
1301840Ssial4_msusceptibility to sialadenitiss 4 (mouse)Not determined171817541252178214Mouse
1300885Mbis4_mMycobacterium bovis-induced systemic lupus erythematosus 4 (mouse)Not determined173517581770165926Mouse
1300890Bhr3_mbronchial hyperresponsiveness 3 (mouse)Not determined17397489048866091Mouse
1301338Lmr1_mleishmaniasis resistance 1 (mouse)Not determined171008134086996400Mouse
1357789Kdnw3_mkidney weight 3 (mouse)Not determined17485475247885665Mouse
1300703Uvbi2_mUVB induced immunosuppression 2 (mouse)Not determined172862240662622654Mouse
1300995Fembrs4_mfemur breaking strength 4 (mouse)Not determined171506165249061760Mouse
15039348Nmrs37_mNAFLD-associated magnetic resonance shift 37 (mouse)172781520961815209Mouse
4141357Mrdq1_mmodifier of retinal degeneration QTL 1 (mouse)Not determined3098790348039703Mouse
1301056Pas2_mpulmonary adenoma susceptibility 2 (mouse)Not determined171842214152424327Mouse
26884428Cvht3_mcranial vault height 3, 5 week (mouse)174651092682407429Mouse
4141478Hbnr7_mHeligmosomoides bakeri nematode resistance 7 (mouse)Not determined4305118551739122Mouse
1302152Skull25_mskull morphology 25 (mouse)Not determined171681972150819843Mouse
1301454Eae5_msusceptibility to experimental allergic encephalomyelitis 5 (mouse)Not determined172461275058612864Mouse
10755514Amzn2_manatomical modifier of Zfp423 2 (mouse)173596629469966424Mouse
15039354Nmrs36_mNAFLD-associated magnetic resonance shift 36 (mouse)171914502553145025Mouse
1300914Pcir4_mperiosteal circumference 4 (mouse)Not determined171506165249061760Mouse
13452396Leusq3_mleucocytosis susceptibility QTL 3 (mouse)171746220851462345Mouse
10755525Lymph2_mlymphocyte differential 2 (mouse)173880562672805626Mouse
13452399Leusq6_mleucocytosis susceptibility QTL 6 (mouse)171746220851462345Mouse
1300592Pcyts5_mplasmacytoma susceptibility 5 (mouse)Not determined173871288772712970Mouse
1300535Char3_mP. chabaudi malaria resistance QTL 3 (mouse)Not determined171746220851462345Mouse
4140955Plgr1_mplague resistance locus 1 (mouse)Not determined3103350065033630Mouse
1302070Tbbmd7_mtotal body bone mineral density 7 (mouse)Not determined171506165249061760Mouse
1302005Loco2_mlocomotor activity 2 (mouse)Not determined172688497260885114Mouse
4141272Tfv1_mtotal food volume 1 (mouse)Not determined485475265637357Mouse
10412214Sxbq3_mSGC/Knj cross B6 QTL 3 (mouse)Not determined171746220851462345Mouse
10755534Lymph4_mlymphocyte differential 4 (mouse)173880562672805626Mouse
10412083Sm2_msusceptibility to Schistosoma mansoni infection 2 (mouse)Not determined171702994351030078Mouse
1302140Wta4_mweight adult 4 (mouse)Not determined171681972150819843Mouse
1558758Kcal2_mkilocalorie 2 (mouse)Not determined172640101252911704Mouse
1558886Lgth9_mbody length 9 (mouse)Not determined171506165249061760Mouse
10412204Bbaa29_mB.burgdorferi-associated arthritis 29 (mouse)Not determined172605118560051352Mouse
12904951Smmq2_msoleus muscle mass QTL 2 (mouse)173678974370789743Mouse
4141319Hmtb8_mhemostasis and thrombosis rebleeding time 8 (mouse)Not determined4053444774534623Mouse
10412198Sst5_msusceptibility to tuberculosis 5 (mouse)Not determined172507658355712970Mouse
26884386Skwq13_mskull length QTL 13, 16 week (mouse)174371089153107028Mouse
4142150Stheal11_msoft tissue heal 11 (mouse)Not determined171228621183361768Mouse
11081168Tir7_mtrypanosome infection response 7 (mouse)171412337248123496Mouse
12903997Cfq4_mconditioned fear QTL 4 (mouse)174501655249366402Mouse
15039324Nmrs48_mNAFLD-associated magnetic resonance shift 48 (mouse)174093918774939187Mouse
26884390Skwq9_mskull length QTL 9, 10 week (mouse)174371089167806995Mouse
1300589Myaa2_mmodifier of Yaa 2 (mouse)Not determined173013255564132666Mouse

Markers in Region
X14770  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381746,923,688 - 46,923,788UniSTSGRCm38
MGSCv371747,060,637 - 47,060,737UniSTSGRCm37
Celera1750,359,607 - 50,359,707UniSTS
Cytogenetic Map17CUniSTS
cM Map1718.84UniSTS
Whitehead/MRC_RH17561.21UniSTS
UniSTS:225036  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381746,923,743 - 46,923,911UniSTSGRCm38
MGSCv371747,060,692 - 47,060,860UniSTSGRCm37
Celera1750,359,662 - 50,359,830UniSTS
Cytogenetic Map17CUniSTS
cM Map1718.84UniSTS


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSMUST00000024773   ⟹   ENSMUSP00000024773
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1747,221,385 - 47,235,859 (+)Ensembl
GRCm38.p6 Ensembl1746,910,459 - 46,924,933 (+)Ensembl
Ensembl Acc Id: ENSMUST00000162469
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1747,221,404 - 47,231,273 (+)Ensembl
GRCm38.p6 Ensembl1746,910,478 - 46,920,347 (+)Ensembl
RefSeq Acc Id: NM_008938   ⟹   NP_032964
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391747,221,404 - 47,235,859 (+)NCBI
GRCm381746,910,478 - 46,924,933 (+)NCBI
MGSCv371747,047,434 - 47,061,875 (+)RGD
Celera1750,346,402 - 50,360,871 (+)RGD
cM Map17 ENTREZGENE
Sequence:
RefSeq Acc Id: NP_032964   ⟸   NM_008938
- UniProtKB: P15499 (UniProtKB/Swiss-Prot),   Q3UWK3 (UniProtKB/TrEMBL),   Q8C8S8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSMUSP00000024773   ⟸   ENSMUST00000024773

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P15499-F1-model_v2 AlphaFold P15499 1-346 view protein structure

Promoters
RGD ID:13676266
Promoter ID:EPDNEW_M22282
Type:initiation region
Name:Prph2_1
Description:Mus musculus peripherin 2 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381746,910,475 - 46,910,535EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:102791 AgrOrtholog
Ensembl Genes ENSMUSG00000023978 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000024773 ENTREZGENE
  ENSMUST00000024773.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.1450.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Peripherin/rom-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peripherin/rom-1_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peripherin_LEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tetraspanin/Peripherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tetraspanin_EC2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:19133 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:102791 ENTREZGENE
NCBI Gene 19133 ENTREZGENE
PANTHER PERIPHERIN-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19282 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Tetraspanin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Prph2 PhenoGen
PRINTS PERIPHERNRDS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RDS_ROM1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48652 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt P15499 ENTREZGENE, UniProtKB/Swiss-Prot
  Q3UWK3 ENTREZGENE, UniProtKB/TrEMBL
  Q8C8S8 ENTREZGENE, UniProtKB/TrEMBL