PRPH2 peripherin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRPH2provided by HGNC
Official Full Name: peripherin 2provided by HGNC
Primary source: HGNC:HGNC:9942
See related: Ensembl:ENSG00000112619 MIM:179605; AllianceGenome:HGNC:9942
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DS; RDS; RP7; rd2; AVMD; PRPH; AOFMD; CACD2; MDBS1; TSPAN22
Summary: 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 signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]
Annotation information: Note: PRPH2 (Gene ID: 5961) and PRPH (Gene ID: 5630) loci share the PRPH symbol/alias in common. [08 Feb 2019]
Expression: Broad expression in brain (RPKM 1.8), thyroid (RPKM 1.7) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (42696598..42722597, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (42525027..42556549, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (42664336..42690335, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Title: PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT.
Title: NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT.
Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.
Title: Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.
PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.
Title: PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
Title: New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.
Title: PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.
PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation.
Title: PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation.
Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.
Title: Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.
Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.
Title: Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
Title: Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.

Submit: New GeneRIF Correction See all GeneRIFs (88)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Choroidal dystrophy, central areolar 2 MedGen: C2751290 OMIM: 613105 GeneReviews: Not available	Compare labs
Cone-rod dystrophy MedGen: C4085590 GeneReviews: Not available	Compare labs
Patterned macular dystrophy 1 MedGen: C4551999 OMIM: 169150 GeneReviews: Not available	Compare labs
Pigmentary retinal dystrophy MedGen: C0311338 OMIM: 136880 GeneReviews: Not available	Compare labs
Retinitis pigmentosa 7 MedGen: C1842475 OMIM: 608133 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	Compare labs
Vitelliform macular dystrophy 3 MedGen: CN295869 OMIM: 608161 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC310725P5 (e-PCR)
- UniSTS:272648

RH17733 (e-PCR)
- UniSTS:81960

GDB:439265 (e-PCR)
- UniSTS:157290

GDB:181434 (e-PCR)
- UniSTS:155243

NoName (e-PCR)
- UniSTS:481923

D6S1872 (e-PCR)
- UniSTS:68006

PMC197259P1 (e-PCR)
- UniSTS:271856

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in detection of light stimulus involved in visual perception	IEA Inferred from Electronic Annotation more info
involved_in photoreceptor cell outer segment organization	IEA Inferred from Electronic Annotation more info
involved_in protein heterooligomerization	IEA Inferred from Electronic Annotation more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to low light intensity stimulus	IEA Inferred from Electronic Annotation more info
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: peripherin-2

Names: choroidal dystrophy, central areolar 2; peripherin 2 (retinal degeneration, slow); peripherin 2, homolog of mouse; peripherin, photoreceptor type; retinal degeneration slow protein; retinal peripherin; tetraspanin-22; tspan-22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009176.2 RefSeqGene

Range

5024..31023

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000322.5 → NP_000313.2 peripherin-2

Status: REVIEWED

Source sequence(s)

AL049843, BC074720

Consensus CDS

CCDS4871.1

UniProtKB/Swiss-Prot

P23942, Q5TFH5, Q6DK65

Related

ENSP00000230381.5, ENST00000230381.7

Conserved Domains (2) summary

cd03162
Location:120 → 262

peripherin_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), peripherin_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

pfam00335
Location:20 → 277

Tetraspannin; Tetraspanin family