Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions E3 ligase
Localizations Stress granucle
BulkPerturb-seq

Description

Ensembl ID ENSG00000128731 Gene ID 8924 Accession 4868
Symbol HERC2 Alias jdf2;p528;MRT38;SHEP1;D15F37S1 Full Name HECT and RLD domain containing E3 ubiquitin protein ligase 2
Status Confidence Length 211140 bases Strand Minus strand
Position 15 : 28111040 - 28322179 RNA binding domain N.A.
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 domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
29511261 Insights into the ubiquitin-proteasome system of human embryonic stem cells. Isabel Saez 2018-03-06 Scientific reports

Transcripts

Name Transcript ID bp Protein Translation ID
HERC2-201 ENST00000261609 15364 4834aa ENSP00000261609
HERC2-214 ENST00000650509 6668 1454aa ENSP00000496936
HERC2-208 ENST00000566635 2114 No protein -
HERC2-202 ENST00000562136 632 No protein -
HERC2-210 ENST00000568206 2018 No protein -
HERC2-213 ENST00000649023 472 No protein -
HERC2-206 ENST00000564519 323 No protein -
HERC2-212 ENST00000569772 598 200aa ENSP00000457745
HERC2-209 ENST00000567869 3523 No protein -
HERC2-211 ENST00000569335 582 No protein -
HERC2-207 ENST00000564734 3121 80aa ENSP00000456237
HERC2-203 ENST00000563670 618 No protein -
HERC2-205 ENST00000564383 471 No protein -
HERC2-204 ENST00000563945 491 No protein -

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
34237Asthma8.1707640E-005-
35775Platelet Function Tests9.7800000E-006-
35776Platelet Function Tests9.8900000E-006-
64942Vitiligo4E-822561518
66893Eye Color2E-2023118974
71315Skin Pigmentation4E-7725963972
74109Hair Color4E-926184321
78297Eye Color3E-5220585627
78414Eye Color1E-30020585627
78651Hair Color5E-1426184321
79296Carcinoma, Squamous Cell3E-926829030
79685Hair Color9E-8820585627
81327Skin2E-725963972
85565Multiple Myeloma7E-623502783
86042Asthma7E-1425918132
86043Toluene 2,4-Diisocyanate7E-1425918132
86178Hair Color4E-10318483556
86179Hair Color1E-7718483556
87581Eye Color1E-4318252221
88638Skin Pigmentation4E-1425963972
97919Hair Color6E-3517952075
97920Eye Color2E-5317952075
101994Carcinoma, Basal Cell8E-1727539887
102473Hair Color5E-10426926045
103022Eye Color1E-30020463881
104706Eyebrows5E-4727182965
105922Eye Color1E-24117952075
105934Alzheimer Disease1E-726830138
105935Age of Onset1E-726830138
106237Eye Color1E-15823548203
106341Hair Color2E-1426184321
106404Hair Color1E-16723548203
106948Suntan1E-2223548203
107024Eye Color1E-17723548203

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0005085enables guanyl-nucleotide exchange factor activity1NASHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634located_in nucleus1IDAHomo_sapiens(9606)Component
GO:0005654located_in nucleoplasm1TASHomo_sapiens(9606)Component
GO:0005737is_active_in cytoplasm2IBA,IDAHomo_sapiens(9606)Component
GO:0005814located_in centriole1IEAHomo_sapiens(9606)Component
GO:0005829located_in cytosol1IDAHomo_sapiens(9606)Component
GO:0005886located_in plasma membrane1IDAHomo_sapiens(9606)Component
GO:0006281involved_in DNA repair1IEAHomo_sapiens(9606)Process
GO:0006886involved_in intracellular protein transport1NASHomo_sapiens(9606)Process
GO:0006974involved_in DNA damage response1IDAHomo_sapiens(9606)Process
GO:0007283involved_in spermatogenesis1IEAHomo_sapiens(9606)Process
GO:0008270enables zinc ion binding1IEAHomo_sapiens(9606)Function
GO:0016020located_in membrane2HDA,IBAHomo_sapiens(9606)Component
GO:0016567involved_in protein ubiquitination3IBA,IDA,IEAHomo_sapiens(9606)Process
GO:0031625enables ubiquitin protein ligase binding1IPIHomo_sapiens(9606)Function
GO:0032183enables SUMO binding1IDAHomo_sapiens(9606)Function
GO:0043161involved_in proteasome-mediated ubiquitin-dependent protein catabolic process1IEAHomo_sapiens(9606)Process
GO:0061630enables ubiquitin protein ligase activity2IBA,IDAHomo_sapiens(9606)Function

Expression