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] See more...

Aliases for RILPL2 Gene

Aliases for RILPL2 Gene

  • Rab Interacting Lysosomal Protein Like 2 2 3 5
  • Rab-Interacting Lysosomal Protein-Like 2 3 4
  • P40phox-Binding Protein 3 4
  • RILP-Like Protein 2 3 4
  • RLP2 3 4
  • Rab Interacting Lysosomal Protein-Like 2 2

External Ids for RILPL2 Gene

Previous GeneCards Identifiers for RILPL2 Gene

  • GC12M122466
  • GC12M123899
  • GC12M120861

Summaries for RILPL2 Gene

Entrez Gene Summary for RILPL2 Gene

  • 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]

GeneCards Summary for RILPL2 Gene

RILPL2 (Rab Interacting Lysosomal Protein Like 2) is a Protein Coding gene. Diseases associated with RILPL2 include Hepatitis C Virus and Griscelli Syndrome, Type 1. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is RILPL1.

UniProtKB/Swiss-Prot Summary for RILPL2 Gene

  • Involved in cell shape and neuronal morphogenesis, positively regulating the establishment and maintenance of dendritic spines (By similarity). Plays a role in cellular protein transport, including protein transport away from primary cilia (By similarity). May function via activation of RAC1 and PAK1 (By similarity).

Additional gene information for RILPL2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RILPL2 Gene

Genomics for RILPL2 Gene

GeneHancer (GH) Regulatory Elements for RILPL2 Gene

Promoters and enhancers for RILPL2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RILPL2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RILPL2

Top Transcription factor binding sites by QIAGEN in the RILPL2 gene promoter:
  • c-Myb
  • En-1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • XBP-1
  • YY1

Genomic Locations for RILPL2 Gene

Genomic Locations for RILPL2 Gene
chr12:123,410,076-123,436,733
(GRCh38/hg38)
Size:
26,658 bases
Orientation:
Minus strand
chr12:123,899,936-123,921,264
(GRCh37/hg19)
Size:
21,329 bases
Orientation:
Minus strand

Genomic View for RILPL2 Gene

Genes around RILPL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RILPL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RILPL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RILPL2 Gene

Proteins for RILPL2 Gene

  • Protein details for RILPL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969X0-RIPL2_HUMAN
    Recommended name:
    RILP-like protein 2
    Protein Accession:
    Q969X0

    Protein attributes for RILPL2 Gene

    Size:
    211 amino acids
    Molecular mass:
    23986 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with RAC1 (By similarity). Interacts (via N-terminus) with MYO5A, the interaction is required for its role in dendrite formation (By similarity). Interacts with RAB8A; interaction is dependent on the phosphorylation of RAB8A on 'Thr-72' (PubMed:29125462). Interacts with RAB10 and RAB12; interaction is dependent on the phosphorylation of 'Thr-73' on RAB10 and 'Ser-105' on RAB12 (PubMed:29125462).

neXtProt entry for RILPL2 Gene

Post-translational modifications for RILPL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RILPL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RILPL2 Gene

Domains & Families for RILPL2 Gene

Gene Families for RILPL2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RILPL2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RILPL2 Gene

GenScript: Design optimal peptide antigens:
  • p40phox-binding protein (RIPL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q969X0

UniProtKB/Swiss-Prot:

RIPL2_HUMAN :
  • Belongs to the RILPL family.
Family:
  • Belongs to the RILPL family.
genes like me logo Genes that share domains with RILPL2: view

Function for RILPL2 Gene

Molecular function for RILPL2 Gene

UniProtKB/Swiss-Prot Function:
Involved in cell shape and neuronal morphogenesis, positively regulating the establishment and maintenance of dendritic spines (By similarity). Plays a role in cellular protein transport, including protein transport away from primary cilia (By similarity). May function via activation of RAC1 and PAK1 (By similarity).

Phenotypes From GWAS Catalog for RILPL2 Gene

Gene Ontology (GO) - Molecular Function for RILPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 29125462
GO:0031267 small GTPase binding IBA 21873635
GO:0042802 identical protein binding IPI 16189514
GO:0046983 protein dimerization activity IEA --
GO:0051959 dynein light intermediate chain binding IBA 21873635
genes like me logo Genes that share ontologies with RILPL2: view
genes like me logo Genes that share phenotypes with RILPL2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RILPL2

CRISPR Products

miRNA for RILPL2 Gene

miRTarBase miRNAs that target RILPL2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RILPL2 Gene

Localization for RILPL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RILPL2 Gene

Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RILPL2 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 2
plasma membrane 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RILPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IEA,ISS --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol IEA,IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with RILPL2: view

Pathways & Interactions for RILPL2 Gene

PathCards logo

SuperPathways for RILPL2 Gene

No Data Available

Interacting Proteins for RILPL2 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: Q969X0-RIPL2_HUMAN ENSP00000280571 for RILPL2 Gene via UniProtKB STRING IID

;

Gene Ontology (GO) - Biological Process for RILPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003382 epithelial cell morphogenesis ISS --
GO:0015031 protein transport IEA --
GO:1903445 protein transport from ciliary membrane to plasma membrane IEA,ISS --
genes like me logo Genes that share ontologies with RILPL2: view

No data available for Pathways by source and SIGNOR curated interactions for RILPL2 Gene

Drugs & Compounds for RILPL2 Gene

No Compound Related Data Available

Transcripts for RILPL2 Gene

mRNA/cDNA for RILPL2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RILPL2 Gene

No ASD Table

Relevant External Links for RILPL2 Gene

GeneLoc Exon Structure for
RILPL2

Expression for RILPL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RILPL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RILPL2 Gene

This gene is overexpressed in Whole Blood (x7.9).

Protein differential expression in normal tissues from HIPED for RILPL2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.7), Monocytes (18.5), Platelet (9.5), and Pancreas (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RILPL2 Gene



Protein tissue co-expression partners for RILPL2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RILPL2

SOURCE GeneReport for Unigene cluster for RILPL2 Gene:

Hs.488173

mRNA Expression by UniProt/SwissProt for RILPL2 Gene:

Q969X0-RIPL2_HUMAN
Tissue specificity: Widely expressed. Expressed at higher level in lung.

Evidence on tissue expression from TISSUES for RILPL2 Gene

  • Kidney(4.3)
genes like me logo Genes that share expression patterns with RILPL2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RILPL2 Gene

Orthologs for RILPL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RILPL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RILPL2 31 30
  • 99.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RILPL2 31 30
  • 87.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RILPL2 31 30
  • 87.36 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rilpl2 30
  • 82.78 (n)
mouse
(Mus musculus)
Mammalia Rilpl2 17 31 30
  • 81.32 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 65 (a)
OneToMany
-- 31
  • 64 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia RILPL2 31
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves RILPL2 31 30
  • 67.05 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RILPL2 31
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rilpl2 30
  • 64.1 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19398 30
zebrafish
(Danio rerio)
Actinopterygii rilpl2 31 30
  • 61.46 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11448 31
  • 8 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rilp-1 31
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2252 31
  • 14 (a)
OneToMany
Species where no ortholog for RILPL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RILPL2 Gene

ENSEMBL:
Gene Tree for RILPL2 (if available)
TreeFam:
Gene Tree for RILPL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RILPL2: view image

Paralogs for RILPL2 Gene

Paralogs for RILPL2 Gene

genes like me logo Genes that share paralogs with RILPL2: view

Variants for RILPL2 Gene

Additional dbSNP identifiers (rs#s) for RILPL2 Gene

Variation tolerance for RILPL2 Gene

Residual Variation Intolerance Score: 44.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.95; 19.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RILPL2 Gene

Human Gene Mutation Database (HGMD)
RILPL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RILPL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for RILPL2 Gene

Disorders for RILPL2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RILPL2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hepatitis c virus
  • hepatitis c virus, susceptibility to
griscelli syndrome, type 1
  • gs1
diarrhea 2, with microvillus atrophy
  • diar2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RILPL2

genes like me logo Genes that share disorders with RILPL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RILPL2 Gene

Publications for RILPL2 Gene

  1. A unique region of RILP distinguishes it from its related proteins in its regulation of lysosomal morphology and interaction with Rab7 and Rab34. (PMID: 14668488) Wang T … Hong W (Molecular biology of the cell 2004) 2 3 4 54
  2. Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis. (PMID: 29125462) Steger M … Mann M (eLife 2017) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) Schizophrenia Working Group of the Psychiatric Genomics Consortium (Nature 2014) 3 54
  5. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. (PMID: 25201988) Rietveld CA … Koellinger PD (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 54

Products for RILPL2 Gene

Sources for RILPL2 Gene