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Rp2 retinitis pigmentosa 2 homolog [ Mus musculus (house mouse) ]

Gene ID: 19889, updated on 11-Apr-2024

Summary

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Official Symbol
Rp2provided by MGI
Official Full Name
retinitis pigmentosa 2 homologprovided by MGI
Primary source
MGI:MGI:1277953
See related
Ensembl:ENSMUSG00000060090 AllianceGenome:MGI:1277953
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Rp2h
Summary
Predicted to enable GTPase activator activity and magnesium ion binding activity. Predicted to be involved in post-Golgi vesicle-mediated transport. Predicted to act upstream of or within protein transport. Located in Golgi apparatus; microtubule organizing center; and periciliary membrane compartment. Is expressed in several structures, including genitourinary system; liver; lung; sensory organ; and spleen. Used to study retinitis pigmentosa 2. Human ortholog(s) of this gene implicated in retinitis pigmentosa and retinitis pigmentosa 2. Orthologous to human RP2 (RP2 activator of ARL3 GTPase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 3.5), testis adult (RPKM 3.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
X A1.3; X 15.83 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (20230778..20271873)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (20364481..20405653)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene carbohydrate sulfotransferase 7 Neighboring gene solute carrier family 9 (sodium/hydrogen exchanger), member 7 Neighboring gene 40S ribosomal protein SA pseudogene Neighboring gene STARR-seq mESC enhancer starr_46875 Neighboring gene STARR-positive B cell enhancer ABC_E11046 Neighboring gene STARR-seq mESC enhancer starr_46877 Neighboring gene transcription initiation factor IIA subunit 1-like Neighboring gene high mobility group box 2 pseudogene Neighboring gene jade family PHD finger 3 Neighboring gene STARR-seq mESC enhancer starr_46878 Neighboring gene ubiquitin-like modifier activating enzyme 3 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice. Li L, et al. Cytoskeleton (Hoboken), 2015 Sep. PMID 26383048, Free PMC Article
  2. Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy. Mookherjee S, et al. Hum Mol Genet, 2015 Nov 15. PMID 26358772, Free PMC Article
  3. Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. Li L, et al. Invest Ophthalmol Vis Sci, 2013 Jul 2. PMID 23745007, Free PMC Article
  4. Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein. Schwahn U, et al. Hum Mol Genet, 2001 May 15. PMID 11371510
  5. Structural but Not Functional Alterations in Cones in the Absence of the Retinal Disease Protein Retinitis Pigmentosa 2 (RP2) in a Cone-Only Retina. Li L, et al. Front Genet, 2019. PMID 31024631, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. this study identifies ARL3 as a key player in prenylated protein trafficking in rod photoreceptor cells and establishes the potential role for ARL3 dysregulation in the pathogenesis of RP2-related forms of X-linked retinitis pigmentosa
    Title: ARL3 regulates trafficking of prenylated phototransduction proteins to the rod outer segment.
  2. RP2 has a role in cone photoreceptor sensory cilium elongation in mice
    Title: Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice.
  3. we first performed detailed characterization of the Rp2-knockout (Rp2-KO) mice and observed early-onset cone dysfunction
    Title: Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.
  4. Our studies suggest that RP2 contributes to the maintenance of photoreceptor function and that cone opsin mislocalization represents an early step in XLRP caused by RP2 mutations.
    Title: Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration.
  5. We propose that RP2 regulation of Arl3 is important for maintaining Golgi cohesion, facilitating the transport and docking of vesicles and thereby carrying proteins to the base of the photoreceptor connecting cilium for transport to the outer segment.
    Title: The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (2)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activator activity ISO
Inferred from Sequence Orthology
more info
  
enables magnesium ion binding ISO
Inferred from Sequence Orthology
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in post-Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within post-Golgi vesicle-mediated transport ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
 PubMed 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasmic vesicle ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear body ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in periciliary membrane compartment IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in periciliary membrane compartment IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
protein XRP2

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.

mRNA and Protein(s)

  1. NM_001290643.2 → NP_001277572.1  protein XRP2 isoform a

    See identical proteins and their annotated locations for NP_001277572.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    BX294384
    Consensus CDS
    CCDS30041.1
    UniProtKB/Swiss-Prot
    Q8BLN8, Q8BVQ8, Q8BZP9, Q9EPK2
    Related
    ENSMUSP00000111049.2, ENSMUST00000115391.8
    Conserved Domains (2) summary
    cl00335
    Location:249 → 307
    NDPk; Nucleoside diphosphate kinases (NDP kinases, NDPks): NDP kinases, responsible for the synthesis of nucleoside triphosphates (NTPs), are involved in numerous regulatory processes associated with proliferation, development, and differentiation. They are ...
    pfam07986
    Location:56 → 174
    TBCC; Tubulin binding cofactor C

  2. NM_001290644.2 → NP_001277573.1  protein XRP2 isoform b

    See identical proteins and their annotated locations for NP_001277573.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a.
    Source sequence(s)
    BX294384
    Consensus CDS
    CCDS72346.1
    UniProtKB/Swiss-Prot
    Q9EPK2
    Related
    ENSMUSP00000111045.2, ENSMUST00000115387.8
    Conserved Domains (2) summary
    cl00335
    Location:212 → 270
    NDPk; Nucleoside diphosphate kinases (NDP kinases, NDPks): NDP kinases, responsible for the synthesis of nucleoside triphosphates (NTPs), are involved in numerous regulatory processes associated with proliferation, development, and differentiation. They are ...
    pfam07986
    Location:20 → 137
    TBCC; Tubulin binding cofactor C

  3. NM_001425972.1 → NP_001412901.1  protein XRP2 isoform c

    Status: VALIDATED

    Source sequence(s)
    BX294384

  4. NM_133669.6 → NP_598430.1  protein XRP2 isoform a

    See identical proteins and their annotated locations for NP_598430.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    BX294384
    Consensus CDS
    CCDS30041.1
    UniProtKB/Swiss-Prot
    Q8BLN8, Q8BVQ8, Q8BZP9, Q9EPK2
    Related
    ENSMUSP00000033372.7, ENSMUST00000033372.13
    Conserved Domains (2) summary
    cl00335
    Location:249 → 307
    NDPk; Nucleoside diphosphate kinases (NDP kinases, NDPks): NDP kinases, responsible for the synthesis of nucleoside triphosphates (NTPs), are involved in numerous regulatory processes associated with proliferation, development, and differentiation. They are ...
    pfam07986
    Location:56 → 174
    TBCC; Tubulin binding cofactor C

RNA

  1. NR_110966.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an exon and contains multiple alternate 3' exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BX294384
    Related
    ENSMUST00000134349.8

  2. NR_110967.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an exon and contains multiple alternate 3' exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BX294384
    Related
    ENSMUST00000133619.2

  3. NR_189641.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    BX294384

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    20230778..20271873
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017318439.3 → XP_017173928.1  protein XRP2 isoform X1

    UniProtKB/Swiss-Prot
    Q9EPK2
    Conserved Domains (2) summary
    cl00335
    Location:212 → 270
    NDPk; Nucleoside diphosphate kinases (NDP kinases, NDPks): NDP kinases, responsible for the synthesis of nucleoside triphosphates (NTPs), are involved in numerous regulatory processes associated with proliferation, development, and differentiation. They are ...
    pfam07986
    Location:20 → 137
    TBCC; Tubulin binding cofactor C
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9EPK2.3 GenPept UniProtKB/Swiss-Prot:Q9EPK2

Gene LinkOut

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