Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5961
Gene name Gene Name - the full gene name approved by the HGNC.	Peripherin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PRPH2
Synonyms (NCBI Gene) Gene synonyms aliases	AOFMD, AVMD, CACD2, DS, MDBS1, PRPH, RDS, RP7, TSPAN22, rd2
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate

Show/Hide all(67)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61748429	CA>-	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, frameshift variant
rs61755769	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs61755771	G>A	Pathogenic, not-provided, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs61755776	G>A,C	Not-provided, pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs61755777	CAG>-	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, inframe deletion
rs61755781	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755783	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755784	A>-	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs61755786	TTC>-	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, inframe deletion
rs61755787	C>T	Not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755789	C>T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, missense variant
rs61755792	G>A,C	Pathogenic, not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755793	C>T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, missense variant
rs61755794	T>A,G	Pathogenic, not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755797	G>A,C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755798	G>A,C	Not-provided, likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755800	T>C,G	Not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755801	C>G	Not-provided, likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755802	A>G	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755806	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755807	TGG>-	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, inframe deletion
rs61755810	C>T	Not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755811	G>A,C	Not-provided, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs61755814	G>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs61755816	G>C,T	Not-provided, likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755817	A>C,G	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918563	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121918564	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121918565	A>G	Pathogenic, not-provided	Initiator codon variant, non coding transcript variant, missense variant
rs121918566	C>T	Pathogenic, not-provided	Non coding transcript variant, downstream transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs121918567	C>A,T	Likely-pathogenic, pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs139185976	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs183714869	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs281865373	T>A	Pathogenic	Intron variant
rs375978676	G>A,C	Likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs527236097	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs527236098	C>T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs554945964	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs672601326	->AGTA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs753657349	C>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs759011231	C>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant
rs786205579	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1064793237	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1064793931	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1131691378	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1203908646	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs1554268521	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant, stop gained
rs1554268546	CGACGTCT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554269046	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554269053	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1554269071	G>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1554269081	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554270806	->AG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554270834	GCTGGGTC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554270848	GCACAAAATGG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562434099	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562434117	CA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1582759782	C>T	Likely-pathogenic	Splice acceptor variant
rs1582759785	G>C	Pathogenic	Intron variant
rs1582764504	AAATGAGGAGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1582764519	GAG>-	Pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs1582764528	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1582764600	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1582764697	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1582764765	->T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1582780550	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1582780842	->G	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments
MIRT1265925	hsa-miR-105	CLIP-seq
MIRT1265926	hsa-miR-122	CLIP-seq
MIRT1265927	hsa-miR-1264	CLIP-seq
MIRT1265928	hsa-miR-1293	CLIP-seq
MIRT1265929	hsa-miR-149	CLIP-seq
MIRT1265930	hsa-miR-1915	CLIP-seq
MIRT1265931	hsa-miR-24	CLIP-seq
MIRT1265932	hsa-miR-2467-3p	CLIP-seq
MIRT1265933	hsa-miR-2909	CLIP-seq
MIRT1265934	hsa-miR-296-5p	CLIP-seq
MIRT1265935	hsa-miR-3065-5p	CLIP-seq
MIRT1265936	hsa-miR-3126-3p	CLIP-seq
MIRT1265937	hsa-miR-3184	CLIP-seq
MIRT1265938	hsa-miR-3198	CLIP-seq
MIRT1265939	hsa-miR-3650	CLIP-seq
MIRT1265940	hsa-miR-3652	CLIP-seq
MIRT1265941	hsa-miR-3675-5p	CLIP-seq
MIRT1265942	hsa-miR-3907	CLIP-seq
MIRT1265943	hsa-miR-3918	CLIP-seq
MIRT1265944	hsa-miR-421	CLIP-seq
MIRT1265945	hsa-miR-423-5p	CLIP-seq
MIRT1265946	hsa-miR-4255	CLIP-seq
MIRT1265947	hsa-miR-4257	CLIP-seq
MIRT1265948	hsa-miR-4271	CLIP-seq
MIRT1265949	hsa-miR-4272	CLIP-seq
MIRT1265950	hsa-miR-4278	CLIP-seq
MIRT1265951	hsa-miR-4283	CLIP-seq
MIRT1265952	hsa-miR-4284	CLIP-seq
MIRT1265953	hsa-miR-4309	CLIP-seq
MIRT1265954	hsa-miR-4310	CLIP-seq
MIRT1265955	hsa-miR-432	CLIP-seq
MIRT1265956	hsa-miR-4426	CLIP-seq
MIRT1265957	hsa-miR-4430	CLIP-seq
MIRT1265958	hsa-miR-4483	CLIP-seq
MIRT1265959	hsa-miR-4489	CLIP-seq
MIRT1265960	hsa-miR-4505	CLIP-seq
MIRT1265961	hsa-miR-4647	CLIP-seq
MIRT1265962	hsa-miR-4651	CLIP-seq
MIRT1265963	hsa-miR-4662b	CLIP-seq
MIRT1265964	hsa-miR-4667-5p	CLIP-seq
MIRT1265965	hsa-miR-4675	CLIP-seq
MIRT1265966	hsa-miR-4679	CLIP-seq
MIRT1265967	hsa-miR-4684-5p	CLIP-seq
MIRT1265968	hsa-miR-4685-5p	CLIP-seq
MIRT1265969	hsa-miR-4700-5p	CLIP-seq
MIRT1265970	hsa-miR-4725-3p	CLIP-seq
MIRT1265971	hsa-miR-4728-5p	CLIP-seq
MIRT1265972	hsa-miR-4731-5p	CLIP-seq
MIRT1265973	hsa-miR-4741	CLIP-seq
MIRT1265974	hsa-miR-4768-5p	CLIP-seq
MIRT1265975	hsa-miR-578	CLIP-seq
MIRT1265976	hsa-miR-592	CLIP-seq
MIRT1265977	hsa-miR-597	CLIP-seq
MIRT1265978	hsa-miR-608	CLIP-seq
MIRT1265979	hsa-miR-625	CLIP-seq
MIRT1265980	hsa-miR-637	CLIP-seq
MIRT1265981	hsa-miR-892a	CLIP-seq
MIRT1265934	hsa-miR-296-5p	CLIP-seq
MIRT2304629	hsa-miR-1266	CLIP-seq
MIRT2304630	hsa-miR-3121-5p	CLIP-seq
MIRT2304631	hsa-miR-335	CLIP-seq
MIRT2304632	hsa-miR-3649	CLIP-seq
MIRT2304633	hsa-miR-3670	CLIP-seq
MIRT2304634	hsa-miR-4270	CLIP-seq
MIRT2304635	hsa-miR-4441	CLIP-seq
MIRT2304636	hsa-miR-4518	CLIP-seq
MIRT2304637	hsa-miR-451b	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	1749427
GO:0009645	Process	Response to low light intensity stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	1749427
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042995	Component	Cell projection	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051291	Process	Protein heterooligomerization	IEA
GO:0051604	Process	Protein maturation	IBA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0072659	Process	Protein localization to plasma membrane	IBA

MIM	HGNC	e!Ensembl
179605	9942	ENSG00000112619

Protein

UniProt ID

P23942

Protein name

Peripherin-2 (Retinal degeneration slow protein) (Tetraspanin-22) (Tspan-22)

Protein function

Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By sim

PDB

7ZW1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00335	Tetraspanin	16 → 287	Tetraspanin family	Family

Tissue specificity

TISSUE SPECIFICITY: Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.

Sequence

MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFV
PNSLIGMGVLSCVFNSLAGKICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCF
LLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWI
SNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQT
EELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESE
SESEGWLLEKSVPETWKAFLESVKKLGKGNQVEAEGAGAGQAPEAG

Sequence length

346

Interactions

View interactions

Show/Hide Causal Diseases (17)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Choroidal Dystrophy	choroidal dystrophy, central areolar 2	rs61755783, rs61755792, rs61755793, rs61755771, rs61755814, rs121918567	N/A
Cone Dystrophy	cone dystrophy	rs1800113541, rs61755783	N/A
cone-rod dystrophy	Cone-rod dystrophy	rs61755786, rs281865373, rs61755781, rs61755792, rs1131691378, rs121918567, rs1800111659	N/A
Foveomacular Vitelliform Dystrophy	adult-onset foveomacular vitelliform dystrophy	rs1554269071, rs61755801, rs61748430, rs1562434117	N/A
Macular dystrophy	macular dystrophy, Isolated macular dystrophy	rs61755793, rs753657349, rs1562434099, rs1582764504, rs1582764528, rs61755810, rs61755814, rs1582780842	N/A
Macular dystrophy, patterned	Patterned macular dystrophy 1	rs672601326, rs61755801, rs1582759785, rs61748429, rs121918563, rs1582764697, rs61755789, rs61755802, rs1203908646, rs61755803, rs1582764600, rs61755771, rs61755792, rs61755786, rs121918567, rs61755781 View all (1 more)	N/A
Patterned Dystrophy Of Retinal Pigment Epithelium	Patterned dystrophy of the retinal pigment epithelium	rs61755810, rs61755781, rs61755793, rs61755806, rs61755813, rs986748364, rs61755771, rs61755783, rs121918563, rs1799988458, rs61755814, rs281865373, rs779414078, rs61755798, rs121918567, rs369507460 View all (1 more)	N/A
retinal dystrophy	Retinal dystrophy	rs121918567, rs61755787, rs1800111486, rs1761921113, rs61755800, rs61755806, rs1800111659, rs1799985749, rs61755813, rs1761904690, rs61755792, rs61755801, rs1554270834, rs61755781, rs61755786 View all (45 more)	N/A
Retinal Dystrophy	Pigmentary retinal dystrophy	rs61755787, rs281865372	N/A
Retinitis Pigmentosa	retinitis pigmentosa, retinitis pigmentosa 7	rs769723975, rs61755792, rs527236097, rs61755816, rs61755807, rs527236098, rs61755817, rs61755787, rs61755810, rs61755806, rs61755771, rs62645935, rs61755781, rs61755796, rs1554269081 View all (19 more)	N/A
Stargardt Disease	stargardt disease	rs61755786, rs769723975, rs61755793, rs527236098, rs1554270834, rs61755781, rs281865373, rs61755787, rs61755813, rs61755783, rs1064793931, rs61755771, rs61755769, rs61755784, rs61755814 View all (6 more)	N/A
Vitelliform Macular Dystrophy	Vitelliform macular dystrophy 3, Vitelliform macular dystrophy 2	rs61755798, rs61755801, rs61755817, rs61755793, rs1799986608, rs121918565, rs121918564, rs61748430, rs121918566, rs1799988458, rs1800118693, rs61755769, rs281865373, rs61755797, rs61755792	N/A
Bestrophinopathy	autosomal recessive bestrophinopathy	rs61755781	N/A
Central Areolar Choroidal Dystrophy	central areolar choroidal dystrophy	rs1761914145	N/A
Choroideremia	choroideremia	rs281865373	N/A
Doyne Honeycomb Retinal Dystrophy	doyne honeycomb retinal dystrophy	rs281865373	N/A
Progressive Cone Dystrophy	progressive cone dystrophy (without rod involvement)	rs61755783	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Fundus Albipunctatus	fundus albipunctatus	N/A	N/A	GenCC
Leber Congenital Amaurosis	Leber congenital amaurosis	N/A	N/A	GenCC
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
Usher Syndrome	usher syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abnormalities Drug Induced	Associate	21071739
Amaurosis congenita of Leber type 1	Associate	33712029
Atrophy	Associate	34073554, 35861669
Best Vitelliform Macular Dystrophy Multifocal	Associate	17504850
Blindness	Associate	35861669
Bullous Dystrophy Hereditary Macular Type	Associate	32717343
Carcinoma Renal Cell	Associate	39298723
Choroidal Neovascularization	Associate	12882809, 32579694, 34073554, 34486473
Choroidal sclerosis	Associate	11801511, 14510799, 26842753, 30215852, 32660024, 8644804
Cone Dystrophy	Associate	35861669
Cone Rod Dystrophies	Associate	21071739, 25082885, 26842753, 29555955, 29769798, 30726412, 34828423, 35656873
Crohn Disease	Associate	35260635
Disease	Associate	33712029
Fundus Albipunctatus	Associate	30726412, 33801777, 35042295
Genetic Diseases Inborn	Associate	14510799, 17504850
Glaucoma Angle Closure	Associate	34399712
Hearing Loss	Associate	22842402
Hypertensive Retinopathy	Associate	32531846, 34115091, 37209970
Late Onset Disorders	Associate	12882809
Leber Congenital Amaurosis	Associate	23847139, 30726412
Macular Degeneration	Associate	12882809, 12902384, 14510799, 16113362, 16885924, 16916875, 17504850, 17653047, 20335603, 25082885, 25447119, 25675413, 26842753, 30726412, 32579694 View all (9 more)
Macular dystrophy concentric annular	Associate	39298723
Macular Dystrophy Retinal 2	Associate	25675413, 33988224
Neoplasms	Associate	39298723
Nerve Degeneration	Associate	35344225
Patterned dystrophy of retinal pigment epithelium	Associate	25675413
Pigmentary Disorder Reticulate with Systemic Manifestations	Associate	9238083
Polycystic Kidney Autosomal Recessive	Associate	9503014
Polypoidal Choroidal Vasculopathy	Associate	32579694
Progressive hearing loss stapes fixation	Associate	33452396
Refsum Disease Infantile	Associate	33452396, 34411390
Respiratory Distress Syndrome In Premature Infants	Associate	27880076, 34115091
Retinal Degeneration	Associate	21071739, 32531846, 33354892, 37466729, 7862413
Retinal Diseases	Associate	16916875, 21071739, 32423767, 32660024, 34411390, 35042295, 35344225, 35861669, 7880786
Retinal Drusen	Associate	11801511, 35861669, 7862413
Retinal Dystrophies	Associate	16916875, 17653047, 18289629, 25675413, 26842753, 28761320, 30726412, 30926958, 33712029, 34828423, 36848389, 39298723, 39596324, 7880786, 9238083, 9279751 View all (1 more)
Retinal Neoplasms	Associate	9238083
Retinitis Pigmentosa	Associate	10193525, 11864893, 14510799, 15994872, 16799052, 16916875, 17653047, 21347327, 22842402, 23049240, 23559859, 23847139, 23950152, 25447119, 25675413 View all (22 more)
Scotoma	Associate	35861669
Stargardt Disease	Associate	16916875, 17504850, 22863181, 27813578, 28050124, 30726412, 32579694, 32660024, 33988224, 34073554, 34486473, 35353811
Stargardt disease 3	Associate	16364203, 16916875
Sveinsson Chorioretinal Atrophy	Associate	16113362, 32660024, 8644804
Usher Syndromes	Associate	22842402, 35656873
Vision Disorders	Associate	16113362, 30217183, 35861669
Vitelliform Macular Dystrophy	Associate	16885924, 23993198, 30726412, 32660024, 35900727

PRPH2 (peripherin 2)