EuRBPDB

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Gene Ontology

Description

Ensembl ID: ENSG00000128731 (Gene tree)
Gene ID: 8924
Gene Symbol: HERC2
Alias: jdf2|p528|D15F37S1
Full Name: HECT and RLD domain containing E3 ubiquitin protein ligase 2
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Minus strand
Length: 211,136 bases
Position: chr15:28,111,037-28,322,172
Accession: 4868
RBP type: non-canonical RBP
Summary: This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]

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
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
ENST00000564383	HERC2-205	471	-	-	- (aa)	-	-
ENST00000566635	HERC2-208	2114	-	-	- (aa)	-	-
ENST00000564734	HERC2-207	3121	-	ENSP00000456237	80 (aa)	-	H3BRG9
ENST00000562136	HERC2-202	632	-	-	- (aa)	-	-
ENST00000261609	HERC2-201	15337	XM_005268276	ENSP00000261609	4834 (aa)	XP_005268333	O95714
ENST00000564519	HERC2-206	323	-	-	- (aa)	-	-
ENST00000649023	HERC2-213	472	-	-	- (aa)	-	-
ENST00000567869	HERC2-209	3523	-	-	- (aa)	-	-
ENST00000569772	HERC2-212	598	-	ENSP00000457745	200 (aa)	-	H3BUQ1
ENST00000568206	HERC2-210	2018	-	-	- (aa)	-	-
ENST00000650509	HERC2-214	6668	XM_017022697	ENSP00000496936	1454 (aa)	XP_016878186	-
ENST00000563670	HERC2-203	618	-	-	- (aa)	-	-
ENST00000569335	HERC2-211	582	-	-	- (aa)	-	-
ENST00000563945	HERC2-204	491	-	-	- (aa)	-	-

Gene Model

Click here to download ENSG00000128731's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa04120	Ubiquitin mediated proteolysis	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000128731	Asthma	8.1707640E-005	-
ENSG00000128731	Platelet Function Tests	9.7800000E-006	-
ENSG00000128731	Platelet Function Tests	9.8900000E-006	-
ENSG00000128731	Vitiligo	4E-8	22561518
ENSG00000128731	Eye Color	2E-20	23118974
ENSG00000128731	Skin Pigmentation	4E-77	25963972
ENSG00000128731	Hair Color	4E-9	26184321
ENSG00000128731	Eye Color	3E-52	20585627
ENSG00000128731	Eye Color	1E-300	20585627
ENSG00000128731	Hair Color	5E-14	26184321
ENSG00000128731	Carcinoma, Squamous Cell	3E-9	26829030
ENSG00000128731	Hair Color	9E-88	20585627
ENSG00000128731	Skin	2E-7	25963972
ENSG00000128731	Multiple Myeloma	7E-6	23502783
ENSG00000128731	Asthma	7E-14	25918132
ENSG00000128731	Toluene 2,4-Diisocyanate	7E-14	25918132
ENSG00000128731	Hair Color	4E-103	18483556
ENSG00000128731	Hair Color	1E-77	18483556
ENSG00000128731	Eye Color	1E-43	18252221
ENSG00000128731	Skin Pigmentation	4E-14	25963972
ENSG00000128731	Hair Color	6E-35	17952075
ENSG00000128731	Eye Color	2E-53	17952075
ENSG00000128731	Carcinoma, Basal Cell	8E-17	27539887
ENSG00000128731	Hair Color	5E-104	26926045
ENSG00000128731	Eye Color	1E-300	20463881
ENSG00000128731	Eyebrows	5E-47	27182965
ENSG00000128731	Eye Color	1E-241	17952075
ENSG00000128731	Alzheimer Disease	1E-7	26830138
ENSG00000128731	Age of Onset	1E-7	26830138
ENSG00000128731	Eye Color	1E-158	23548203
ENSG00000128731	Hair Color	2E-14	26184321
ENSG00000128731	Hair Color	1E-167	23548203
ENSG00000128731	Suntan	1E-22	23548203
ENSG00000128731	Eye Color	1E-177	23548203

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000128731	rs12913832	15	28120472	?	Colorectal cancer	29228715	[NR]	1.252	EFO_0005842
ENSG00000128731	rs1129038	15	28111713	T	Rosacea symptom severity	29771307	[0.11-0.2] unit increase	0.156778	EFO_0009180
ENSG00000128731	rs12912427	15	28250810	G	Rosacea symptom severity	29771307	[0.11-0.2] unit increase	0.154711	EFO_0009180
ENSG00000128731	rs12913832	15	28120472	A	Low tan response	29739929	[0.19-0.42] unit decrease	0.306	EFO_0004279
ENSG00000128731	rs1667394	15	28285036	C	Low tan response	29739929	[0.12-0.33] unit decrease	0.226	EFO_0004279
ENSG00000128731	rs12916300	15	28165345	?	Monobrow	27182965	[0.077-0.058] unit decrease	0.067	EFO_0007906
ENSG00000128731	rs8033755	15	28136400	A	Alzheimer disease and age of onset	26830138	unit decrease	5.299	EFO_0000249\|EFO_0004847
ENSG00000128731	rs12913832	15	28120472	?	Hair color	26926045			EFO_0007822
ENSG00000128731	rs12916300	15	28165345	T	Basal cell carcinoma	27539887	[NR]	1.15	EFO_0004193
ENSG00000128731	rs79097182	15	28266851	?	Blond vs non-blond hair color	26184321	[2.70-3.26]	2.9822	EFO_0003924
ENSG00000128731	rs79097182	15	28266851	?	Brown vs. non-brown hair color	26184321	[1.83-2.31]	2.07168	EFO_0003924
ENSG00000128731	rs79097182	15	28266851	?	Light vs. dark hair color	26184321	[2.29-2.84]	2.564103	EFO_0003924
ENSG00000128731	rs149963581	15	28212394	C	Skin sensitivity to sun	25963972	[0.28-0.61] unit increase	0.441	EFO_0004795
ENSG00000128731	rs1667392	15	28288419	G	Skin colour saturation	25963972	[NR] unit increase	0.01	EFO_0003784
ENSG00000128731	rs12913832	15	28120472	A	Perceived skin darkness	25963972	[0.19-0.23] unit increase	0.21006678	EFO_0003784
ENSG00000128731	rs12916300	15	28165345	?	Squamous cell carcinoma	26829030	[1.09-1.18]	1.1363636	EFO_0000707
ENSG00000128731	rs1667394	15	28285036	C	Eye color	23118974	[0.28-0.42] unit increase	0.353	EFO_0003949
ENSG00000128731	rs8028689	15	28243742	G	Multiple myeloma (IgH translocation)	23502783	[1.33-2.05]	1.65	EFO_0001378
ENSG00000128731	rs12913832	15	28120472	A	Eye color	23548203	[2.62-3.02] unit increase	2.82	EFO_0003949
ENSG00000128731	rs12913832	15	28120472	G	Tanning	23548203	[0.12-0.16] unit increase	0.14	EFO_0004279
ENSG00000128731	rs12913832	15	28120472	G	Hair color	23548203	[0.37-0.41] unit increase	0.39	EFO_0003924
ENSG00000128731	rs12913832	15	28120472	G	Eye color	23548203	[2.62-3.06] unit decrease	2.84	EFO_0003949
ENSG00000128731	rs12913832	15	28120472	?	Eye color traits	20463881			EFO_0003949
ENSG00000128731	rs12913832	15	28120472	A	Hair color	20585627	[NR] unit increase	0.97	EFO_0003924
ENSG00000128731	rs12913832	15	28120472	A	Eye color	20585627	[NR] unit increase	2.49	EFO_0003949
ENSG00000128731	rs12913832	15	28120472	A	Eye color	20585627	[NR]	8.43	EFO_0003949
ENSG00000128731	rs1635168	15	28290120	A	Vitiligo	27723757	[1.26-1.49]	1.371	EFO_0004208
ENSG00000128731	rs138063419	15	28130268	T	Osteoarthritis of the hip (with total joint replacement)	29436472	[1.29-1.88]	1.56	EFO_1000786
ENSG00000128731	rs12913832	15	28120472	?	Colonoscopy-negative controls vs population controls	29228715	[NR]	1.397	EFO_0008460
ENSG00000128731	rs12916300	15	28165345	?	Colorectal cancer	29228715	[NR]	1.35	EFO_0005842
ENSG00000128731	rs1129038	15	28111713	C	Vitiligo	22561518	[NR]	1.22	EFO_0004208
ENSG00000128731	rs916977	15	28268218	?	Iris color	18252221			EFO_0003949
ENSG00000128731	rs12913832	15	28120472	A	Black vs. blond hair color	18483556	[0.40-0.48] hair color score decrease	0.44	EFO_0003924
ENSG00000128731	rs12913832	15	28120472	A	Black vs. red hair color	18483556	[0.40-0.48] hair color score decrease	0.44	EFO_0003924
ENSG00000128731	rs1667394	15	28285036	A	Blond vs. brown hair color	17952075	[3.16-7.71]	4.94	EFO_0003924
ENSG00000128731	rs1667394	15	28285036	A	Blue vs. green eyes	17952075	[4.61-9.83]	6.74	EFO_0003949
ENSG00000128731	rs1667394	15	28285036	A	Blue vs. brown eyes	17952075	[21.47-40.35]	29.43	EFO_0003949
ENSG00000128731	rs12913832	15	28120472	A	Diisocyanate-induced asthma	25918132	[2.47-4.89]	3.48	EFO_0006995\|EFO_0000270
ENSG00000128731	rs12913832	15	28120472	A	Hair color	29662168	[0.49-0.5] unit increase	0.499	EFO_0007822
ENSG00000128731	rs1129038	15	28111713	C	Refractive astigmatism	30306274	[0.015-0.031] dioptres decrease	0.023	HP_0000483
ENSG00000128731	rs12913832	15	28120472	?	Blond vs. brown/black hair color	30531825	NR	4.6904316	EFO_0003924
ENSG00000128731	rs77572354	15	28315576	G	Blond vs. brown/black hair color	30531825	NR	1.277	EFO_0003924
ENSG00000128731	rs75165924	15	28135112	T	Blond vs. brown/black hair color	30531825	NR	1.41	EFO_0003924
ENSG00000128731	rs1129038	15	28111713	?	Red vs. brown/black hair color	30531825	NR	1.4060742	EFO_0003924
ENSG00000128731	rs12913832	15	28120472	?	Brown vs. black hair color	30531825	NR	2.2291574	EFO_0003924
ENSG00000128731	rs117007668	15	28126276	?	Hair color	30595370			EFO_0007822
ENSG00000128731	rs144864205	15	28231486	?	Hair color	30595370			EFO_0007822
ENSG00000128731	rs7403279	15	28138419	?	Sunburns	30595370			EFO_0003958
ENSG00000128731	rs117325217	15	28289631	?	Sunburns	30595370			EFO_0003958
ENSG00000128731	rs12913832	15	28120472	A	Corneal astigmatism	30306274	[1.05-1.12]	1.0869565	EFO_1002040
ENSG00000128731	rs1129038	15	28111713	C	Corneal astigmatism	30306274	[0.022-0.034] dioptres decrease	0.028	EFO_1002040
ENSG00000128731	rs12913832	15	28120472	?	Skin pigmentation	30664655			EFO_0007009
ENSG00000128731	rs4778249	15	28135372	?	Skin pigmentation	30664655			EFO_0007009
ENSG00000128731	rs12913832	15	28120472	?	Eye color (saturation)	30664655			EFO_0009764
ENSG00000128731	rs4778249	15	28135372	?	Eye color (saturation)	30664655			EFO_0009764
ENSG00000128731	rs12913832	15	28120472	?	Eye color	30664655			EFO_0009764
ENSG00000128731	rs4778249	15	28135372	?	Eye color	30664655			EFO_0009764
ENSG00000128731	rs12913832	15	28120472	?	Hair color	30664655			EFO_0007822
ENSG00000128731	rs12913832	15	28120472	?	Eye color (brightness)	30664655			EFO_0009764
ENSG00000128731	rs4778249	15	28135372	?	Eye color (brightness)	30664655			EFO_0009764
ENSG00000128731	rs12913832	15	28120472	?	Eye color (hue)	30664655			EFO_0009764
ENSG00000128731	rs1667394	15	28285036	?	Eye color traits	30166351	[1.42-1.68] unit increase	1.5500612	EFO_0003949
ENSG00000128731	rs1667394	15	28285036	?	Eye color traits	30166351	[1.72-1.97] unit increase	1.843	EFO_0003949
ENSG00000128731	rs1667394	15	28285036	?	Eye color traits	30166351	[0.57-0.65] unit decrease	0.6088	EFO_0003949
ENSG00000128731	rs1667392	15	28288419	?	Skin pigmentation traits	30166351	[0.29-0.34] unit decrease	0.3162	EFO_0003784
ENSG00000128731	rs12913832	15	28120472	?	Skin pigmentation traits	30166351	[0.3-0.35] unit decrease	0.3257	EFO_0003784
ENSG00000128731	rs12913832	15	28120472	?	Skin pigmentation traits	30166351	[5.89-6.82] unit decrease	6.354	EFO_0003784
ENSG00000128731	rs1667392	15	28288419	?	Skin pigmentation traits	30166351	[5.62-6.63] unit decrease	6.123	EFO_0003784
ENSG00000128731	rs1667392	15	28288419	?	Skin pigmentation traits	30166351	[0.62-0.96] unit decrease	0.7935	EFO_0003784
ENSG00000128731	rs12913832	15	28120472	?	Skin pigmentation traits	30166351	[0.7-1.02] unit decrease	0.8599	EFO_0003784
ENSG00000128731	rs12913832	15	28120472	?	Skin pigmentation traits	30166351	[0.14-0.21] unit increase	0.1766	EFO_0003784
ENSG00000128731	rs1667392	15	28288419	?	Skin pigmentation traits	30166351	[0.13-0.2] unit increase	0.1647	EFO_0003784
ENSG00000128731	rs1129038	15	28111713	?	Skin pigmentation traits	30166351	[0.37-0.7] unit increase	0.5341482	EFO_0004279\|EFO_0003784
ENSG00000128731	rs12913832	15	28120472	?	Skin pigmentation traits	30166351	[0.23-0.42] unit increase	0.32792723	EFO_0004279\|EFO_0003784
ENSG00000128731	rs12913832	15	28120472	?	Skin pigmentation traits	30166351	[0.44-0.77] unit decrease	0.6038	EFO_0004279\|EFO_0003784
ENSG00000128731	rs1667392	15	28288419	?	Skin pigmentation traits	30166351	[0.42-0.78] unit decrease	0.6035	EFO_0004279\|EFO_0003784
ENSG00000128731	rs12913832	15	28120472	?	Skin pigmentation traits	30166351	[0.15-0.25] unit decrease	0.2014	EFO_0004279\|EFO_0003784
ENSG00000128731	rs1667392	15	28288419	?	Skin pigmentation traits	30166351	[0.14-0.26] unit decrease	0.1983	EFO_0004279\|EFO_0003784
ENSG00000128731	rs12913832	15	28120472	?	Hair morphology traits	30166351	[0.56-0.8] unit decrease	0.682465	EFO_0007822\|EFO_0007821
ENSG00000128731	rs1667392	15	28288419	?	Hair morphology traits	30166351	[1.21-1.62] unit increase	1.4178878	EFO_0007822\|EFO_0007821
ENSG00000128731	rs12913832	15	28120472	?	Hair morphology traits	30166351	[1.41-1.82] unit increase	1.6129291	EFO_0007822\|EFO_0007821
ENSG00000128731	rs1129038	15	28111713	?	Hair morphology traits	30166351	[1.23-1.61] unit increase	1.4185499	EFO_0007822\|EFO_0007821
ENSG00000128731	rs1667392	15	28288419	?	Hair morphology traits	30166351	[1.1-1.49] unit increase	1.2948569	EFO_0007822\|EFO_0007821
ENSG00000128731	rs1667392	15	28288419	?	Hair morphology traits	30166351	[1.37-1.73] unit decrease	1.549	EFO_0007822\|EFO_0007821
ENSG00000128731	rs12913832	15	28120472	?	Hair morphology traits	30166351	[1.44-1.77] unit decrease	1.602	EFO_0007822\|EFO_0007821
ENSG00000128731	rs1667392	15	28288419	?	Hair morphology traits	30166351	[0.3-0.37] unit increase	0.3348	EFO_0007822\|EFO_0007821
ENSG00000128731	rs12913832	15	28120472	?	Hair morphology traits	30166351	[0.32-0.38] unit increase	0.3482	EFO_0007822\|EFO_0007821

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000128731's network

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

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0004842	ubiquitin-protein transferase activity	20304803.	IDA	Function
GO:0005085	guanyl-nucleotide exchange factor activity	9949213.	NAS	Function
GO:0005515	protein binding	20023648.20304803.29426014.	IPI	Function
GO:0005634	nucleus	21873635.	IBA	Component
GO:0005634	nucleus	20304803.	IDA	Component
GO:0005654	nucleoplasm	-	TAS	Component
GO:0005737	cytoplasm	20304803.	IDA	Component
GO:0005814	centriole	-	IEA	Component
GO:0006303	double-strand break repair via nonhomologous end joining	-	TAS	Process
GO:0006886	intracellular protein transport	9949213.	NAS	Process
GO:0006974	cellular response to DNA damage stimulus	21873635.	IBA	Process
GO:0006974	cellular response to DNA damage stimulus	22508508.	IDA	Process
GO:0007283	spermatogenesis	-	IEA	Process
GO:0008270	zinc ion binding	-	IEA	Function
GO:0016020	membrane	19946888.	HDA	Component
GO:0016567	protein ubiquitination	20304803.	IDA	Process
GO:0016567	protein ubiquitination	-	IEA	Process
GO:0031625	ubiquitin protein ligase binding	22508508.	IPI	Function
GO:0032183	SUMO binding	22508508.	IDA	Function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	21873635.	IBA	Process