RILPL2 (Rab interacting lysosomal protein like 2)

Gene

• Entrez ID: 196383
• Gene name: Rab interacting lysosomal protein like 2
• Gene symbol: RILPL2
• Synonyms (NCBI Gene): RLP2
• Chromosome: 12
• Chromosome location: 12q24.31
• 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. Alterna

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022280	hsa-miR-124-3p	Microarray	18668037
MIRT2090911	hsa-miR-197	CLIP-seq
MIRT2090912	hsa-miR-224	CLIP-seq
MIRT2090913	hsa-miR-3074-3p	CLIP-seq
MIRT2090914	hsa-miR-4276	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003382	Process	Epithelial cell morphogenesis	IEA
GO:0003382	Process	Epithelial cell morphogenesis	ISS
GO:0005515	Function	Protein binding	IPI	29125462, 32017888
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005813	Component	Centrosome	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0031267	Function	Small GTPase binding	IBA
GO:0036064	Component	Ciliary basal body	IBA
GO:0042802	Function	Identical protein binding	IPI	16189514, 32017888
GO:0042995	Component	Cell projection	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IBA
GO:0060271	Process	Cilium assembly	IBA
GO:1903445	Process	Protein transport from ciliary membrane to plasma membrane	IEA
GO:1903445	Process	Protein transport from ciliary membrane to plasma membrane	ISS

Other IDs

• MIM: 614093
• HGNC: 28787
• e!Ensembl: ENSG00000150977

Protein

• UniProt ID: Q969X0
• Protein name: RILP-like protein 2 (Rab-interacting lysosomal protein-like 2) (p40phox-binding protein)
• Protein 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 s
• PDB: 6RIR, 6SQ2, 7LWB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11461	RILP	134 → 191	Rab interacting lysosomal protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in lung. {ECO:0000269|PubMed:14668488}.
• Sequence:

  MEEPPVREEEEEEGEEDEERDEVGPEGALGKSPFQLTAEDVYDISYLLGRELMALGSDPR
  VTQLQFKVVRVLEMLEALVNEGSLALEELKMERDHLRKEVEGLRRQSPPASGEVNLGPNK
  MVVDLTDPNRPRFTLQELRDVLQERNKLKSQLLVVQEELQCYKSGLIPPREGPGGRREKD
  AVVTSAKNAGRNKEEKTIIKKLFFFRSGKQT

• Sequence length: 211

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	31497344		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36536539	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36817087	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	28600779	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36536539, 39465767	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28600779	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31497344		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	27082954		★☆☆☆☆ Found in Text Mining only