Human Gene RILPL2 (uc001uey.1) Description and Page Index
  Description: Homo sapiens Rab interacting lysosomal protein-like 2 (RILPL2), mRNA.
RefSeq Summary (NM_145058): 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].
Transcript (Including UTRs)
   Position: hg19 chr12:123,899,936-123,921,264 Size: 21,329 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr12:123,900,438-123,920,967 Size: 20,530 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr12:123,899,936-123,921,264)mRNA (may differ from genome)Protein (211 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=RILP-like protein 2; AltName: Full=Rab-interacting lysosomal protein-like 2; AltName: Full=p40phox-binding protein;
FUNCTION: Involved in cell shape and neuronal morphogenesis, positively regulating the establishment and maintenance of dendritic spines. May activate RAC1 (By similarity).
SUBUNIT: Interacts (via N-terminus) with MYO5A, the interaction is required for its role in dendrite formation. Interacts with RAC1 (By similarity).
INTERACTION: Self; NbExp=2; IntAct=EBI-717552, EBI-717552;
SUBCELLULAR LOCATION: Cytoplasm, cytosol.
TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in lung.
SIMILARITY: Belongs to the RILPL family.
SIMILARITY: Contains 1 RILP-like domain.

-  MalaCards Disease Associations
  MalaCards Gene Search: RILPL2
Diseases sorted by gene-association score: hepatitis c virus (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 84.95 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 832.93 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -140.00297-0.471 Picture PostScript Text
3' UTR -158.20502-0.315 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021563 - RILP

Pfam Domains:
PF11461 - Rab interacting lysosomal protein

ModBase Predicted Comparative 3D Structure on Q969X0
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0031267 small GTPase binding
GO:0042802 identical protein binding
GO:0046983 protein dimerization activity
GO:0051959 dynein light intermediate chain binding

Biological Process:
GO:0003382 epithelial cell morphogenesis
GO:0015031 protein transport
GO:0060271 cilium assembly
GO:1903445 protein transport from ciliary membrane to plasma membrane

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0016020 membrane
GO:0036064 ciliary basal body
GO:0042995 cell projection

-  Descriptions from all associated GenBank mRNAs
  KJ900395 - Synthetic construct Homo sapiens clone ccsbBroadEn_09789 RILPL2 gene, encodes complete protein.
AK054942 - Homo sapiens cDNA FLJ30380 fis, clone BRACE2008015.
AB085763 - Homo sapiens mRNA for p40phox binding protein, partial cds.
BC013042 - Homo sapiens Rab interacting lysosomal protein-like 2, mRNA (cDNA clone MGC:4797 IMAGE:3544761), complete cds.
AK056934 - Homo sapiens cDNA FLJ32372 fis, clone SALGL1000005.
JD494385 - Sequence 475409 from Patent EP1572962.
JD144840 - Sequence 125864 from Patent EP1572962.
JD154725 - Sequence 135749 from Patent EP1572962.
JD055995 - Sequence 37019 from Patent EP1572962.
JD437746 - Sequence 418770 from Patent EP1572962.
JD159856 - Sequence 140880 from Patent EP1572962.
JD298360 - Sequence 279384 from Patent EP1572962.
JD199929 - Sequence 180953 from Patent EP1572962.
JD247878 - Sequence 228902 from Patent EP1572962.
JD309610 - Sequence 290634 from Patent EP1572962.
JD253719 - Sequence 234743 from Patent EP1572962.
JD096503 - Sequence 77527 from Patent EP1572962.
DQ892579 - Synthetic construct clone IMAGE:100005209; FLH187727.01X; RZPDo839C06150D hypothetical protein MGC7036 (MGC7036) gene, encodes complete protein.
CU680478 - Synthetic construct Homo sapiens gateway clone IMAGE:100016772 5' read MGC7036 mRNA.
DQ895796 - Synthetic construct Homo sapiens clone IMAGE:100010256; FLH187723.01L; RZPDo839C06149D hypothetical protein MGC7036 (MGC7036) gene, encodes complete protein.
JD545045 - Sequence 526069 from Patent EP1572962.
JD464551 - Sequence 445575 from Patent EP1572962.
JD561229 - Sequence 542253 from Patent EP1572962.
JD242065 - Sequence 223089 from Patent EP1572962.
JD555320 - Sequence 536344 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_145058, NP_659495, Q969X0, RIPL2_HUMAN, RLP2
UCSC ID: uc001uey.1
RefSeq Accession: NM_145058
Protein: Q969X0 (aka RIPL2_HUMAN)
CCDS: CCDS9248.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_145058.1
exon count: 4CDS single in 3' UTR: no RNA size: 1435
ORF size: 636CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 1472.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.