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

Gene ID: 196383, updated on 11-Jun-2021

Summary

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
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
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Genomic context

See RILPL2 in Genome Data Viewer
Location:
12q24.31
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (123409890..123436684, complement)
105.20201022 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 SBNO1 antisense RNA 1 Neighboring gene lysine methyltransferase 5A Neighboring gene COP9 signalosome subunit 5 pseudogene 2 Neighboring gene small nuclear ribonucleoprotein U11/U12 subunit 35 Neighboring gene Rab interacting lysosomal protein like 1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
GeneReviews: Not available
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC7036, FLJ30380, FLJ32372

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
 
Process Evidence Code Pubs
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

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_145058.3NP_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:25106
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    pfam11461
    Location:135189
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    123409890..123436684 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538012.3XP_011536314.1  RILP-like protein 2 isoform X1

    Conserved Domains (2) summary
    cd14445
    Location:25106
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    pfam11461
    Location:135189
    RILP; Rab interacting lysosomal protein
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