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    RILPL2 Rab interacting lysosomal protein like 2 [ Homo sapiens (human) ]

    Gene ID: 196383, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RILPL2provided by HGNC
    Official Full Name
    Rab interacting lysosomal protein like 2provided by HGNC
    Primary source
    HGNC:HGNC:28787
    See related
    Ensembl:ENSG00000150977 MIM:614093; AllianceGenome:HGNC:28787
    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
    RLP2
    Summary
    This gene encodes a protein that contains a rab-interacting lysosomal protein-like domain. This protein may be involved in regulating lysosome morphology. This protein may also be a target for the Hepatitis C virus and assist in viral replication. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
    Expression
    Ubiquitous expression in bone marrow (RPKM 15.2), thyroid (RPKM 7.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q24.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123409306..123436684, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123405896..123433259, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123899586..123921231, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene strawberry notch homolog 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7260 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:123855180-123855353 Neighboring gene SBNO1 antisense RNA 1 Neighboring gene microRNA 8072 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:123867650-123867872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123867837-123868567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5043 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123886419-123887182 Neighboring gene lysine methyltransferase 5A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123920207-123921136 Neighboring gene uncharacterized LOC124903041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7269 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5045 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123942373-123943239 Neighboring gene COP9 signalosome subunit 5 pseudogene 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123943240-123944105 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:123949657-123950158 Neighboring gene Sharpr-MPRA regulatory region 13608 Neighboring gene small nuclear ribonucleoprotein U11/U12 subunit 35 Neighboring gene Rab interacting lysosomal protein like 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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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    Related articles in PubMed

    1. Prognostic value of RILPL2 and its correlation with tumor immune microenvironment and glycolysis in non-small cell lung cancer. Chen D, et al. Cell Cycle, 2023 Apr. PMID 36536539, Free PMC Article
    2. [Early orthodontic treatment by means of the standardized vestibular plate]. Bredy E. Osterr Z Stomatol, 1967 May. PMID 5230296
    3. LRRK2-phosphorylated Rab10 sequesters Myosin Va with RILPL2 during ciliogenesis blockade. Dhekne HS, et al. Life Sci Alliance, 2021 May. PMID 33727250, Free PMC Article
    4. Structural Basis for Rab8a Recruitment of RILPL2 via LRRK2 Phosphorylation of Switch 2. Waschbüsch D, et al. Structure, 2020 Apr 7. PMID 32017888, Free PMC Article
    5. A unique region of RILP distinguishes it from its related proteins in its regulation of lysosomal morphology and interaction with Rab7 and Rab34. Wang T, et al. Mol Biol Cell, 2004 Feb. PMID 14668488, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Prognostic value of RILPL2 and its correlation with tumor immune microenvironment and glycolysis in non-small cell lung cancer.
      Title: Prognostic value of RILPL2 and its correlation with tumor immune microenvironment and glycolysis in non-small cell lung cancer.
    2. LRRK2-phosphorylated Rab10 sequesters Myosin Va with RILPL2 during ciliogenesis blockade.
      Title: LRRK2-phosphorylated Rab10 sequesters Myosin Va with RILPL2 during ciliogenesis blockade.
    3. Structural Basis for Rab8a Recruitment of RILPL2 via LRRK2 Phosphorylation of Switch 2.
      Title: Structural Basis for Rab8a Recruitment of RILPL2 via LRRK2 Phosphorylation of Switch 2.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC7036, FLJ30380, FLJ32372

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epithelial cell morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein transport from ciliary membrane to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    RILP-like protein 2
    Names
    p40phox-binding protein
    rab-interacting lysosomal protein-like 2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_145058.3 → NP_659495.1  RILP-like protein 2

      See identical proteins and their annotated locations for NP_659495.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AC145423, BC013042, EB386182
      Consensus CDS
      CCDS9248.1
      UniProtKB/Swiss-Prot
      Q969X0
      Related
      ENSP00000280571.8, ENST00000280571.10
      Conserved Domains (2) summary
      cd14445
      Location:25 → 106
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
      pfam11461
      Location:135 → 189
      RILP; Rab interacting lysosomal protein

    RNA

    1. NR_130703.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC145423, BM556243, EB386182

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      123409306..123436684 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538012.4 → XP_011536314.1  RILP-like protein 2 isoform X2

      Conserved Domains (2) summary
      cd14445
      Location:25 → 106
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
      pfam11461
      Location:135 → 189
      RILP; Rab interacting lysosomal protein

    2. XM_047428476.1 → XP_047284432.1  RILP-like protein 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      123405896..123433259 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371365.1 → XP_054227340.1  RILP-like protein 2 isoform X2

    2. XM_054371364.1 → XP_054227339.1  RILP-like protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969X0.1 GenPept UniProtKB/Swiss-Prot:Q969X0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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