RABEP2 (rabaptin, RAB GTPase binding effector protein 2)

Gene

• Entrez ID: 79874
• Gene name: Rabaptin, RAB GTPase binding effector protein 2
• Gene symbol: RABEP2
• Synonyms (NCBI Gene): FRA
• Chromosome: 16
• Chromosome location: 16p11.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043957	hsa-miR-378a-3p	CLASH	23622248
MIRT1286274	hsa-miR-296-5p	CLIP-seq
MIRT1286275	hsa-miR-3184	CLIP-seq
MIRT1286276	hsa-miR-423-5p	CLIP-seq
MIRT1286277	hsa-miR-4728-5p	CLIP-seq
MIRT1286278	hsa-miR-4749-3p	CLIP-seq
MIRT1286279	hsa-miR-635	CLIP-seq
MIRT1286274	hsa-miR-296-5p	CLIP-seq
MIRT1286275	hsa-miR-3184	CLIP-seq
MIRT1286276	hsa-miR-423-5p	CLIP-seq
MIRT1286278	hsa-miR-4749-3p	CLIP-seq
MIRT1286279	hsa-miR-635	CLIP-seq
MIRT2084879	hsa-miR-19a	CLIP-seq
MIRT2084880	hsa-miR-19b	CLIP-seq
MIRT2084881	hsa-miR-3152-5p	CLIP-seq
MIRT2084882	hsa-miR-3176	CLIP-seq
MIRT2084883	hsa-miR-3922-3p	CLIP-seq
MIRT2310292	hsa-miR-1908	CLIP-seq
MIRT1286274	hsa-miR-296-5p	CLIP-seq
MIRT2310293	hsa-miR-3135b	CLIP-seq
MIRT2310294	hsa-miR-3141	CLIP-seq
MIRT1286275	hsa-miR-3184	CLIP-seq
MIRT1286276	hsa-miR-423-5p	CLIP-seq
MIRT1286277	hsa-miR-4728-5p	CLIP-seq
MIRT1286278	hsa-miR-4749-3p	CLIP-seq
MIRT1286279	hsa-miR-635	CLIP-seq
MIRT2310295	hsa-miR-663	CLIP-seq
MIRT2310296	hsa-miR-744	CLIP-seq
MIRT2393366	hsa-miR-1915	CLIP-seq
MIRT2393367	hsa-miR-4447	CLIP-seq
MIRT2393368	hsa-miR-4472	CLIP-seq
MIRT2393369	hsa-miR-4651	CLIP-seq
MIRT2393370	hsa-miR-4726-3p	CLIP-seq
MIRT2393371	hsa-miR-491-5p	CLIP-seq
MIRT2393372	hsa-miR-608	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	27224062, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005813	Component	Centrosome	IDA	27224062
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0015031	Process	Protein transport	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0036064	Component	Ciliary basal body	IDA	27224062
GO:0042995	Component	Cell projection	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:1902017	Process	Regulation of cilium assembly	IMP	27224062

Other IDs

• MIM: 611869
• HGNC: 24817
• e!Ensembl: ENSG00000177548

Protein

• UniProt ID: Q9H5N1
• Protein name: Rab GTPase-binding effector protein 2 (Rabaptin-5beta)
• Protein function: Plays a role in membrane trafficking and in homotypic early endosome fusion (PubMed:9524116). Participates in arteriogenesis by regulating vascular endothelial growth factor receptor 2/VEGFR2 cell surface expression and endosomal trafficking (Pu
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03528	Rabaptin	19 → 184	Rabaptin	Family
  PF09311	Rab5-bind	289 → 503	Rabaptin-like protein	Coiled-coil
  PF09311	Rab5-bind	492 → 546	Rabaptin-like protein	Coiled-coil

• Sequence:

  MAAAAPVAADDDERRRRPGAALEDSRSQEGANGEAESGELSRLRAELAGALAEMETMKAV
  AEVSESTKAEAVAAVQRQCQEEVASLQAILKDSISSYEAQITALKQERQQQQQDCEEKER
  ELGRLKQLLSRAYPLDSLEKQMEKAHEDSEKLREIVLPMEKEIEELKAKLLRAEELIQEI
  QRRPRHAPSLHGSTELLPLSRDPSPPLEPLEELSGDGGPAAEAFAHNCDDSASISSFSLG
  GGVGSSSSLPQSRQGLSPEQEETASLVSTGTLVPEGIYLPPPGYQLVPDTQWEQLQTEGR
  QLQKDLESVSRERDELQEGLRRSNEDCAKQMQVLLAQVQNSEQLLRTLQGTVSQAQERVQ
  LQMAELVTTHKCLHHEVKRLNEENQGLRAEQLPSSAPQGSQQEQGEEESLPSSVPELQQL
  LCCTRQEARARLQAQEHGAERLRIEIVTLREALEEETVARASLEGQLRVQREETEVLEAS
  LCSLRTEMERVQQEQSKAQLPDLLSEQRAKVLRLQAELETSEQVQRDFVRLSQALQVRLE
  RIRQAETLEQVRSIMDEAPLTDVRDIKDT

• Sequence length: 569

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
BRODY MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	25971554		★☆☆☆☆ Found in Text Mining only
Antibody Deficiency due to Defect in CD19	Common variable immunodeficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	40207533	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30324710		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	20647332		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26573433	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	18222534	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27328938, 29155362		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36245230	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23880844, 25971554		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30342266		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	19640172		★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	37039476	Associate	★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	2316520		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	40207533	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	25971554		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	2316520, 8074164		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	30455363		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	37990267	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	29243784		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	2316520		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27328938, 29155362		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11562178		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	29243784		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	2316520		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	8074164		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24993594, 30262588		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	37039476	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24993594		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GWASDB_DG	23563607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASCAT_DG	23563607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Diseases	Ovarian diseases	Pubtator	18222534	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18222534, 37418532	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37990267	Stimulate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASDB_DG	24842889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	BEFREE	3209055		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22547449		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	29968759	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30155754		★☆☆☆☆ Found in Text Mining only