RBP Type
Canonical_RBPs
Diseases
Drug
N.A.
Main interacting RNAs
N.A.
Moonlighting functions
N.A.
Localizations
N.A.
BulkPerturb-seq
N.A.
Ensembl ID ENSG00000182150 Gene ID
375748 Accession
26922
Symbol
ERCC6L2
Alias
HEBO;BMFS2;SR278;RAD26L;C9orf102
Full Name
ERCC excision repair 6 like 2
Status
Confidence
Length
249891 bases
Strand
Plus strand
Position
9 : 95871264 - 96121154
RNA binding domain
ResIII , DEAD
Summary
This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]
RNA binding domains (RBDs)
Protein
Domain
Pfam ID
E-value
Domain number
ENSP00000395345
DEAD
PF00270 4.6e-06
1
ENSP00000395345
ResIII
PF04851 2.4e-10
2
ENSP00000508232
DEAD
PF00270 6e-06
1
ENSP00000508232
ResIII
PF04851 2.5e-10
2
ENSP00000499453
DEAD
PF00270 6.3e-06
1
ENSP00000499453
ResIII
PF04851 2.6e-10
2
ENSP00000499236
DEAD
PF00270 6.7e-06
1
ENSP00000499236
ResIII
PF04851 3e-10
2
ENSP00000288985
DEAD
PF00270 6.8e-06
1
ENSP00000288985
ResIII
PF04851 3e-10
2
ENSP00000499338
DEAD
PF00270 7.7e-06
1
ENSP00000499338
ResIII
PF04851 3.5e-10
2
ENSP00000499575
DEAD
PF00270 1.7e-05
1
ENSP00000499575
ResIII
PF04851 1.3e-09
2
ENSP00000507810
DEAD
PF00270 1.7e-05
1
ENSP00000507810
ResIII
PF04851 1.3e-09
2
ENSP00000507383
DEAD
PF00270 1.7e-05
1
ENSP00000507383
ResIII
PF04851 1.2e-09
2
ENSP00000384215
ResIII
PF04851 3.2e-08
1
RNA binding proteomes (RBPomes)
Pubmed ID
Full Name
Cell
Author
Time
Doi
Literatures on RNA binding capacity
Pubmed ID
Title
Author
Time
Journal
36790458 ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution.
Francesco Baccelli
2023-04-01
Annals of hematology
29987015 Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.
Hemanth Tummala
2018-07-24
Proceedings of the National Academy of Sciences of the United States of America
33194896 DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns.
Richa Sharma
2020-01-01
Frontiers in pediatrics
Name
Transcript ID
bp
Protein
Translation ID
ERCC6L2-202
ENST00000402838
3257
1058aa
ENSP00000384215
ERCC6L2-223
ENST00000683230
1883
No protein
-
ERCC6L2-201
ENST00000288985
4647
701aa
ENSP00000288985
ERCC6L2-211
ENST00000665077
2898
201aa
ENSP00000499371
ERCC6L2-225
ENST00000683937
6345
1535aa
ENSP00000507442
ERCC6L2-216
ENST00000682748
4200
207aa
ENSP00000507452
ERCC6L2-226
ENST00000683991
5610
1186aa
ENSP00000507383
ERCC6L2-224
ENST00000683350
4826
1173aa
ENSP00000507810
ERCC6L2-215
ENST00000682394
6696
No protein
-
ERCC6L2-204
ENST00000456993
6168
207aa
ENSP00000409751
ERCC6L2-218
ENST00000682983
7157
1550aa
ENSP00000507518
ERCC6L2-220
ENST00000683156
3164
No protein
-
ERCC6L2-209
ENST00000659728
5884
1169aa
ENSP00000499575
ERCC6L2-208
ENST00000653738
10245
1550aa
ENSP00000499221
ERCC6L2-213
ENST00000670016
5114
740aa
ENSP00000499338
ERCC6L2-219
ENST00000683128
4924
663aa
ENSP00000508232
ERCC6L2-221
ENST00000683176
7815
No protein
-
ERCC6L2-222
ENST00000683227
7620
No protein
-
ERCC6L2-207
ENST00000653324
6835
672aa
ENSP00000499453
ERCC6L2-210
ENST00000661047
5811
700aa
ENSP00000499236
ERCC6L2-203
ENST00000426805
2037
595aa
ENSP00000395345
ERCC6L2-205
ENST00000466840
3586
No protein
-
ERCC6L2-206
ENST00000479391
3457
257aa
ENSP00000473877
ERCC6L2-217
ENST00000682951
2473
No protein
-
ERCC6L2-212
ENST00000668220
358
49aa
ENSP00000499429
ERCC6L2-214
ENST00000682148
4064
No protein
-
Pathway ID
Pathway Name
Source
ensgID
Trait
pValue
Pubmed ID
58784 Blood Pressure 8.7477884E-007 - 58786 Blood Pressure 8.7477884E-007 - 58787 Blood Pressure 8.8302748E-007 - 58799 Blood Pressure 8.7477884E-007 -
ensgID SNP Chromosome Position
Trait PubmedID Or or BEAT
EFO ID
Protein-Protein Interaction (PPI)
Ensembl ID
Source
Target
Species
Protein ID
Perc_pos
Perc_id
Species
Protein ID
Perc_pos
Perc_id
ENSG00000182150
Ensembl ID
Source
Target
Species
Protein ID
Perc_pos
Perc_id
Species
Protein ID
Perc_pos
Perc_id
ENSG00000182150 homo_sapiens ENSP00000499221 98.7742 97.4194 pongo_abelii ENSPPYP00000021752 98.7742 97.4194 ENSG00000182150 homo_sapiens ENSP00000499221 16.9032 13.871 notamacropus_eugenii ENSMEUP00000008205 52.505 43.0862 ENSG00000182150 homo_sapiens ENSP00000499221 24.4516 22.2581 choloepus_hoffmanni ENSCHOP00000002692 76.8763 69.9797 ENSG00000182150 homo_sapiens ENSP00000499221 87.8064 80.6452 dasypus_novemcinctus ENSDNOP00000034604 86.6879 79.6178 ENSG00000182150 homo_sapiens ENSP00000499221 12.6452 11.4194 erinaceus_europaeus ENSEEUP00000001566 39.4366 35.6137 ENSG00000182150 homo_sapiens ENSP00000499221 21.1613 17.9355 echinops_telfairi ENSETEP00000008686 65.8635 55.8233 ENSG00000182150 homo_sapiens ENSP00000499221 95.2258 91.871 callithrix_jacchus ENSCJAP00000016276 95.4722 92.1087 ENSG00000182150 homo_sapiens ENSP00000499221 87.1613 84.3226 cercocebus_atys ENSCATP00000033359 92.8522 89.8282 ENSG00000182150 homo_sapiens ENSP00000499221 96.5161 93.0968 macaca_fascicularis ENSMFAP00000050779 96.4539 93.0368 ENSG00000182150 homo_sapiens ENSP00000499221 96.7097 93.4194 macaca_mulatta ENSMMUP00000074187 96.6473 93.3591 ENSG00000182150 homo_sapiens ENSP00000499221 96.7097 93.2903 papio_anubis ENSPANP00000021608 96.8972 93.4712 ENSG00000182150 homo_sapiens ENSP00000499221 23.8065 21.6774 tursiops_truncatus ENSTTRP00000005096 74.8479 68.1542 ENSG00000182150 homo_sapiens ENSP00000499221 88.8387 81.5484 vulpes_vulpes ENSVVUP00000031470 88.8387 81.5484 ENSG00000182150 homo_sapiens ENSP00000499221 89.8064 83.2258 equus_asinus ENSEASP00005060541 90.0388 83.4411 ENSG00000182150 homo_sapiens ENSP00000499221 88 80.2581 capra_hircus ENSCHIP00000023109 87.5481 79.846 ENSG00000182150 homo_sapiens ENSP00000499221 89.2258 81.871 panthera_leo ENSPLOP00000013035 89.2258 81.871 ENSG00000182150 homo_sapiens ENSP00000499221 88.7742 81.871 ailuropoda_melanoleuca ENSAMEP00000012265 88.8889 81.9767 ENSG00000182150 homo_sapiens ENSP00000499221 87.9355 80.4516 bos_indicus_hybrid ENSBIXP00005036229 87.484 80.0385 ENSG00000182150 homo_sapiens ENSP00000499221 89.4839 82.8387 equus_caballus ENSECAP00000006093 89.6574 82.9994 ENSG00000182150 homo_sapiens ENSP00000499221 88.5806 81.2903 canis_lupus_familiaris ENSCAFP00845005334 88.1258 80.8729 ENSG00000182150 homo_sapiens ENSP00000499221 90.7742 83.9355 balaenoptera_musculus ENSBMSP00010009744 90.6572 83.8273 ENSG00000182150 homo_sapiens ENSP00000499221 89.5484 82.2581 felis_catus ENSFCAP00000002508 89.5484 82.2581 ENSG00000182150 homo_sapiens ENSP00000499221 71.871 66.5806 ursus_americanus ENSUAMP00000003901 88.2027 81.7102 ENSG00000182150 homo_sapiens ENSP00000499221 90.3871 84.1936 monodon_monoceros ENSMMNP00015019606 90.4454 84.2479 ENSG00000182150 homo_sapiens ENSP00000499221 87.871 80.129 sus_scrofa ENSSSCP00000058725 86.9732 79.3103 ENSG00000182150 homo_sapiens ENSP00000499221 84.1936 76.8387 ovis_aries_rambouillet ENSOARP00020002900 88.3548 80.6364 ENSG00000182150 homo_sapiens ENSP00000499221 89.6774 83.3548 ursus_maritimus ENSUMAP00000013289 89.7353 83.4087 ENSG00000182150 homo_sapiens ENSP00000499221 21.1613 17.2903 ochotona_princeps ENSOPRP00000010639 74.5455 60.9091 ENSG00000182150 homo_sapiens ENSP00000499221 90.129 84 delphinapterus_leucas ENSDLEP00000022523 90.1872 84.0542 ENSG00000182150 homo_sapiens ENSP00000499221 90.3226 83.7419 physeter_catodon ENSPCTP00005007212 90.3226 83.7419 ENSG00000182150 homo_sapiens ENSP00000499221 86 82.9032 aotus_nancymaae ENSANAP00000010206 95.4871 92.0487 ENSG00000182150 homo_sapiens ENSP00000499221 95.2903 91.4839 saimiri_boliviensis_boliviensis ENSSBOP00000021673 95.2903 91.4839 ENSG00000182150 homo_sapiens ENSP00000499221 22.129 20.3226 vicugna_pacos ENSVPAP00000004046 70 64.2857 ENSG00000182150 homo_sapiens ENSP00000499221 97.0323 94.129 chlorocebus_sabaeus ENSCSAP00000002882 97.2204 94.3116 ENSG00000182150 homo_sapiens ENSP00000499221 18.9032 16.4516 tupaia_belangeri ENSTBEP00000012718 60.5372 52.686 ENSG00000182150 homo_sapiens ENSP00000499221 89.8064 83.8064 phocoena_sinus ENSPSNP00000003799 89.3453 83.3761 ENSG00000182150 homo_sapiens ENSP00000499221 87.4839 80.3226 camelus_dromedarius ENSCDRP00005026499 87.1465 80.0129 ENSG00000182150 homo_sapiens ENSP00000499221 18.8387 15.4839 sorex_araneus ENSSARP00000002554 58.871 48.3871 ENSG00000182150 homo_sapiens ENSP00000499221 21.0968 19.3548 pteropus_vampyrus ENSPVAP00000003725 65.6627 60.241 ENSG00000182150 homo_sapiens ENSP00000499221 30.9677 27.6129 myotis_lucifugus ENSMLUP00000000776 82.3328 73.4134 ENSG00000182150 homo_sapiens ENSP00000499221 89.871 83.7419 rhinolophus_ferrumequinum ENSRFEP00010026460 89.9871 83.8501 ENSG00000182150 homo_sapiens ENSP00000499221 73.7419 68.129 neovison_vison ENSNVIP00000015568 87.9908 81.2933 ENSG00000182150 homo_sapiens ENSP00000499221 88.0645 80.5161 bos_taurus ENSBTAP00000027486 87.6123 80.1027 ENSG00000182150 homo_sapiens ENSP00000499221 85.5484 76.9677 heterocephalus_glaber_female ENSHGLP00000013279 85.8252 77.2168 ENSG00000182150 homo_sapiens ENSP00000499221 86.9677 78 sciurus_vulgaris ENSSVLP00005008912 87.0239 78.0504 ENSG00000182150 homo_sapiens ENSP00000499221 26.3871 23.0968 procavia_capensis ENSPCAP00000001975 82.6263 72.3232 ENSG00000182150 homo_sapiens ENSP00000499221 88.3871 80.7742 bos_grunniens ENSBGRP00000016102 88.4442 80.8263 ENSG00000182150 homo_sapiens ENSP00000499221 85.4194 76.6452 chinchilla_lanigera ENSCLAP00000023889 84.1704 75.5245 ENSG00000182150 homo_sapiens ENSP00000499221 88.1936 80.3226 cervus_hanglu_yarkandensis ENSCHYP00000009002 88.6511 80.7393 ENSG00000182150 homo_sapiens ENSP00000499221 88.3871 80.7742 moschus_moschiferus ENSMMSP00000009747 87.9333 80.3594 ENSG00000182150 homo_sapiens ENSP00000499221 20.129 11.9355 astyanax_mexicanus ENSAMXP00000034197 45.0867 26.7341 ENSG00000182150 homo_sapiens ENSP00000499221 13.2903 8.25806 electrophorus_electricus ENSEEEP00000016822 40.1559 24.9513 ENSG00000182150 homo_sapiens ENSP00000499221 39.2903 28.2581 laticauda_laticaudata ENSLLTP00000023453 59.882 43.0678 ENSG00000182150 homo_sapiens ENSP00000499221 13.8065 8.90323 meleagris_gallopavo ENSMGAP00000028295 58.9532 38.0165 ENSG00000182150 homo_sapiens ENSP00000499221 13.7419 8.96774 naja_naja ENSNNAP00000027491 60.8571 39.7143 ENSG00000182150 homo_sapiens ENSP00000499221 24.0645 17.2903 pelodiscus_sinensis ENSPSIP00000012324 63.4354 45.5782 ENSG00000182150 homo_sapiens ENSP00000499221 57.2903 45.9355 chelonoidis_abingdonii ENSCABP00000026739 68.6775 55.0657
Go ID
Go term
No. evidence
Entries
Species
Category
GO:0003677 enables DNA binding 1 IEA Homo_sapiens(9606) Function GO:0004386 enables helicase activity 1 IEA Homo_sapiens(9606) Function GO:0005515 enables protein binding 1 IPI Homo_sapiens(9606) Function GO:0005524 enables ATP binding 1 IEA Homo_sapiens(9606) Function GO:0005634 located_in nucleus 1 IMP Homo_sapiens(9606) Component GO:0005737 located_in cytoplasm 1 IMP Homo_sapiens(9606) Component GO:0005739 located_in mitochondrion 1 IMP Homo_sapiens(9606) Component GO:0005813 colocalizes_with centrosome 1 IDA Homo_sapiens(9606) Component GO:0006338 involved_in chromatin remodeling 1 IEA Homo_sapiens(9606) Process GO:0016787 enables hydrolase activity 1 IEA Homo_sapiens(9606) Function GO:0019901 enables protein kinase binding 1 IPI Homo_sapiens(9606) Function GO:0032991 part_of protein-containing complex 1 IDA Homo_sapiens(9606) Component GO:0034614 involved_in cellular response to reactive oxygen species 1 IMP Homo_sapiens(9606) Process GO:0036297 involved_in interstrand cross-link repair 1 IMP Homo_sapiens(9606) Process GO:0140658 enables ATP-dependent chromatin remodeler activity 1 IEA Homo_sapiens(9606) Function
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