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

Summary

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

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI662636 (e-PCR)
- UniSTS:166175

D1S3698 (e-PCR)
- UniSTS:474276

px-25d4 (e-PCR)
- UniSTS:257470

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)

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
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
NM_001425972.1 → NP_001412901.1 protein XRP2 isoform c

Status: VALIDATED

Source sequence(s)

BX294384
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

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
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
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

NC_000086.8 Reference GRCm39 C57BL/6J

Range

20230778..20271873

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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