EuRBPDB

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Gene Ontology

Description

Ensembl ID: ENSG00000006125 (Gene tree)
Gene ID: 163
Gene Symbol: AP2B1
Alias: ADTB2|CLAPB1
Full Name: adaptor related protein complex 2 subunit beta 1
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Plus strand
Length: 148,372 bases
Position: chr17:35,578,046-35,726,417
Accession: 563
RBP type: non-canonical RBP
Summary: The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & HEK293	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & HEK293	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & U2OS	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000593014	AP2B1-210	577	-	ENSP00000466812	132 (aa)	-	K7EN71
ENST00000620039	AP2B1-219	3428	-	ENSP00000481246	49 (aa)	-	A0A087WXS3
ENST00000616681	AP2B1-215	3267	-	ENSP00000484708	913 (aa)	-	A0A087X253
ENST00000614600	AP2B1-214	2285	-	ENSP00000479691	677 (aa)	-	A0A087WZQ6
ENST00000616784	AP2B1-216	2542	XM_005257941	ENSP00000478471	663 (aa)	XP_005257998	A0A087WU93
ENST00000610402	AP2B1-211	3204	XM_011524448	ENSP00000483185	951 (aa)	XP_011522750	P63010
ENST00000591561	AP2B1-207	756	-	-	- (aa)	-	-
ENST00000612035	AP2B1-212	2161	-	ENSP00000482825	677 (aa)	-	A0A087WZQ6
ENST00000621668	AP2B1-220	2055	-	ENSP00000481704	639 (aa)	-	A0A087WYD1
ENST00000588093	AP2B1-202	334	-	-	- (aa)	-	-
ENST00000621914	AP2B1-221	5702	XM_011524451	ENSP00000482315	937 (aa)	XP_011522753	P63010
ENST00000591610	AP2B1-208	559	-	ENSP00000465848	63 (aa)	-	K7EKZ5
ENST00000592167	AP2B1-209	461	-	ENSP00000467382	63 (aa)	-	K7EKZ5
ENST00000619183	AP2B1-218	1595	-	-	- (aa)	-	-
ENST00000612116	AP2B1-213	3483	-	ENSP00000478115	677 (aa)	-	A0A087WZQ6
ENST00000618940	AP2B1-217	3415	XM_005257937	ENSP00000482835	951 (aa)	XP_005257994	P63010
ENST00000628168	AP2B1-222	192	-	ENSP00000487324	63 (aa)	-	K7EKZ5
ENST00000590538	AP2B1-206	568	-	ENSP00000468813	63 (aa)	-	K7EKZ5
ENST00000587805	AP2B1-201	690	-	ENSP00000466580	181 (aa)	-	K7EMN7
ENST00000588116	AP2B1-203	779	-	ENSP00000464966	164 (aa)	-	K7EJ01
ENST00000589774	AP2B1-204	552	-	ENSP00000468183	151 (aa)	-	K7ERB2
ENST00000590432	AP2B1-205	554	-	ENSP00000465357	80 (aa)	-	K7EJX1

Gene Model

Click here to download ENSG00000006125's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa04144	Endocytosis	KEGG
hsa04721	Synaptic vesicle cycle	KEGG
hsa04961	Endocrine and other factor-regulated calcium reabsorption	KEGG
hsa05016	Huntington disease	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000006125	Mean Platelet Volume	4E-12	22139419

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000006125	rs225245	17	35619088	G	High light scatter reticulocyte percentage of red cells	27863252	[0.042-0.056] unit decrease	0.0488401	EFO_0007986
ENSG00000006125	rs9915021	17	35649600	T	High light scatter reticulocyte percentage of red cells	27863252	[0.068-0.097] unit increase	0.0822496	EFO_0007986
ENSG00000006125	rs74505413	17	35596533	G	Reticulocyte count	27863252	[0.15-0.18] unit increase	0.1640979	EFO_0007986
ENSG00000006125	rs225245	17	35619088	G	Reticulocyte count	27863252	[0.077-0.091] unit decrease	0.08358499	EFO_0007986
ENSG00000006125	rs11868206	17	35632228	A	Mean platelet volume	27863252	[0.052-0.07] unit decrease	0.06073825	EFO_0004584
ENSG00000006125	rs112346425	17	35680792	C	Mean platelet volume	27863252	[0.091-0.128] unit decrease	0.1097456	EFO_0004584
ENSG00000006125	rs16971217	17	35617036	C	Mean platelet volume	22139419	[0.007-0.011] ln(fl) increase	0.009	EFO_0004584
ENSG00000006125	rs9649	17	35723915	T	Educational attainment (MTAG)	30038396	[0.0072-0.0138] unit increase	0.0105	EFO_0004784
ENSG00000006125	rs225285	17	35604065	C	Highest math class taken (MTAG)	30038396	[0.0082-0.0152] unit decrease	0.0117	EFO_0004875
ENSG00000006125	rs225245	17	35619088	G	Reticulocyte fraction of red cells	27863252	[0.081-0.095] unit decrease	0.08756592	EFO_0007986
ENSG00000006125	rs74505413	17	35596533	G	Reticulocyte fraction of red cells	27863252	[0.15-0.19] unit increase	0.1700208	EFO_0007986
ENSG00000006125	rs11653357	17	35596588	A	Platelet count	27863252	[0.055-0.073] unit increase	0.06404226	EFO_0004309
ENSG00000006125	rs11653357	17	35596588	A	Platelet distribution width	27863252	[0.091-0.11] unit decrease	0.1002962	EFO_0007984
ENSG00000006125	rs533229216	17	35658446	T	Platelet distribution width	27863252	[0.18-0.32] unit increase	0.2463744	EFO_0007984
ENSG00000006125	rs225245	17	35619088	G	High light scatter reticulocyte count	27863252	[0.04-0.054] unit decrease	0.04732168	EFO_0007986
ENSG00000006125	rs9915021	17	35649600	T	High light scatter reticulocyte count	27863252	[0.067-0.095] unit increase	0.08090267	EFO_0007986
ENSG00000006125	rs186558953	17	35632344	C	Macrophage inflammatory protein 1b levels	27989323	[0.43-0.7] SD units increase	0.5681	EFO_0008219
ENSG00000006125	rs9649	17	35723915	T	Educational attainment (years of education)	30038396	[0.0071-0.0145] unit increase	0.0108	EFO_0004784
ENSG00000006125	rs226090	17	35707040	?	Morning person	30595370			EFO_0008328
ENSG00000006125	rs225245	17	35619088	?	Red cell distribution width	30595370			EFO_0005192
ENSG00000006125	rs2011528	17	35653547	C	Chronotype	30696823		1.0334471	EFO_0008328

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000006125's network

* RBP PPI network refers to all genes directly bind to RBP

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0003281	ventricular septum development	-	IEA	Process
GO:0005048	signal sequence binding	12121421.	TAS	Function
GO:0005515	protein binding	9341158.12086608.12221107.15533940.16189514.20603002.24130457.24189400.25061211.25416956.26680585.30021884.	IPI	Function
GO:0005829	cytosol	-	TAS	Component
GO:0005886	plasma membrane	-	TAS	Component
GO:0016020	membrane	19946888.	HDA	Component
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	-	TAS	Process
GO:0030122	AP-2 adaptor complex	12086608.	IMP	Component
GO:0030122	AP-2 adaptor complex	12121421.	TAS	Component
GO:0030276	clathrin binding	19509056.	IPI	Function
GO:0030276	clathrin binding	12121421.	TAS	Function
GO:0030666	endocytic vesicle membrane	-	TAS	Component
GO:0030669	clathrin-coated endocytic vesicle membrane	-	TAS	Component
GO:0032802	low-density lipoprotein particle receptor catabolic process	-	TAS	Process
GO:0034383	low-density lipoprotein particle clearance	-	TAS	Process
GO:0035615	clathrin adaptor activity	12121421.	TAS	Function
GO:0035904	aorta development	-	IEA	Process
GO:0036020	endolysosome membrane	-	TAS	Component
GO:0044877	protein-containing complex binding	-	IEA	Function
GO:0045334	clathrin-coated endocytic vesicle	25898166.	NAS	Component
GO:0045807	positive regulation of endocytosis	-	IEA	Process
GO:0048013	ephrin receptor signaling pathway	-	TAS	Process
GO:0048268	clathrin coat assembly	-	IEA	Process
GO:0050690	regulation of defense response to virus by virus	-	TAS	Process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	-	TAS	Process
GO:0060976	coronary vasculature development	-	IEA	Process
GO:0061024	membrane organization	-	TAS	Process
GO:0072583	clathrin-dependent endocytosis	12121421.	TAS	Process
GO:0098794	postsynapse	-	IEA	Component
GO:0098884	postsynaptic neurotransmitter receptor internalization	-	IEA	Process
GO:0098978	glutamatergic synapse	-	IEA	Component
GO:1901215	negative regulation of neuron death	-	IEA	Process
GO:1905477	positive regulation of protein localization to membrane	-	IEA	Process