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

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Myoepithelial tumor	Uncertain significance	rs779009742	RCV002463904

Associations from Text Mining
Disease Name	Relationship Type	References
Arterial Occlusive Diseases	Associate	40207533
Breast Neoplasms	Associate	26573433
Calcinosis Cutis	Associate	18222534
Carcinoma	Associate	18222534
Carcinoma Squamous Cell	Stimulate	36245230
Diabetes Mellitus	Associate	40207533
Drug Related Side Effects and Adverse Reactions	Associate	24646866
Glycogen Storage Disease Type IV	Stimulate	37990267
Infarction Anterior Cerebral Artery	Associate	40207533
Neoplasms	Associate	12612090, 18222534, 26248049, 36245230
Neoplasms Cystic Mucinous and Serous	Associate	18222534
Neoplastic Cells Circulating	Associate	40207533
Ovarian Diseases	Associate	18222534
Ovarian Neoplasms	Associate	18222534, 37418532
Ovarian Neoplasms	Stimulate	37990267
Synovitis	Associate	29968759