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: 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
GO:0005769	Component	Early endosome	IEA
GO:0005813	Component	Centrosome	IDA	27224062
GO:0005829	Component	Cytosol	IDA
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:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043547	Process	Positive regulation of GTPase activity	IEA
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

Causal
Disease name	Disease term	dbSNP ID	References
Common variable immunodeficiency	Antibody Deficiency due to Defect in CD19	rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	23563607
Parkinson disease	Parkinson Disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	24842889