Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79874
Gene name Gene Name - the full gene name approved by the HGNC.	Rabaptin, RAB GTPase binding effector protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RABEP2
Synonyms (NCBI Gene) Gene synonyms aliases	FRA
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p11.2

Show/Hide all(35)

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

Show/Hide all(15)

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

MIM	HGNC	e!Ensembl
611869	24817	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

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
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 View all (35 more)
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)	23563607
Parkinson disease	Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432 View all (84 more)	24842889

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Diabetes	Diabetes			GWAS

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining
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

RABEP2 (rabaptin, RAB GTPase binding effector protein 2)