rp2 RP2 activator of ARL3 GTPase [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: rp2provided by ZNC
Official Full Name: RP2 activator of ARL3 GTPaseprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-2795
See related: Ensembl:ENSDARG00000044339 AllianceGenome:ZFIN:ZDB-GENE-040426-2795
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zfrp2; zgc:55632; wu:fj10e02; wu:fm72d05
Summary: Predicted to enable GTPase activator activity. Acts upstream of or within several processes, including heart looping; photoreceptor cell maintenance; and photoreceptor cell outer segment organization. Predicted to be located in cell projection and plasma membrane. Predicted to be active in cilium and periciliary membrane compartment. Is expressed in several structures, including fertilized egg; liver and biliary system; pleuroperitoneal region; sensory system; and trunk. 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, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 6

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	6	NC_007117.7 (37514599..37525847, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	6	NC_007117.6 (37536705..37547980, complement)

Chromosome 6 - NC_007117.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

study also reveals a role of the C-terminal domain of RP2 in maintaining the overall protein stability.
Title: Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
maternal rp2 mRNA is essential for successful embryonic development and thus contributes to egg developmental competence
Title: X-Linked Retinitis Pigmentosa 2 Is a Novel Maternal-Effect Gene Required for Left-Right Asymmetry in Zebrafish.
Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish
Title: Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish.
Results suggest that RP2 plays a key role in photoreceptor development and maintenance in zebrafish
Title: Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants.
Zebrafish RP2 is widely expressed throughout development. ZFRP2 knockdown caused retinal degeneration in zebrafish.
Title: Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration.

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General gene information

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Gene Ontology Provided by ZFIN

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	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within determination of heart left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell outer segment organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in post-Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within pronephros development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pronephros development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina layer formation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in periciliary membrane compartment	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein XRP2

Names: RP2, ARL3 GTPase activating protein; nme10; retinitis pigmentosa 2 (X-linked recessive)

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_213446.1 → NP_998611.1 protein XRP2

See identical proteins and their annotated locations for NP_998611.1

Status: PROVISIONAL

Source sequence(s)

BC046879

UniProtKB/Swiss-Prot

F1QC45

Conserved Domains (2) summary

cl00335
Location:221 → 275

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:19 → 137

TBCC; Tubulin binding cofactor C

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

NC_007117.7 Reference GRCz11 Primary Assembly

Range

37514599..37525847 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005165977.2 → XP_005166034.1 protein XRP2 isoform X1

See identical proteins and their annotated locations for XP_005166034.1

UniProtKB/Swiss-Prot

F1D694, F1QC45, Q802Z6

Related

ENSDARP00000155269.1, ENSDART00000182707.1

Conserved Domains (2) summary

cl00335
Location:286 → 340

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:84 → 202

TBCC; Tubulin binding cofactor C