ERCC6L2
entrez
375748
canonical
uniprot
Q5T890
canonical
ensembl
ENSG00000182150
resolver
ensp
ENSP00000288985
resolver
ensp
ENSP00000499221
resolver
ensp
ENSP00000499236
resolver
ensp
ENSP00000499338
resolver
ensp
ENSP00000499453
resolver
ensp
ENSP00000507383
resolver
ensp
ENSP00000507810
resolver
ensp
ENSP00000508232
resolver
ensp
ENSP00000520479
resolver
ensp
ENSP00000695338
resolver
ensp
ENSP00000695339
resolver
ensp
ENSP00000784295
resolver
enst
ENST00000288985
resolver
enst
ENST00000653324
resolver
enst
ENST00000661047
resolver
enst
ENST00000670016
resolver
enst
ENST00000683350
resolver
enst
ENST00000683991
resolver
enst
ENST00000715566
resolver
genesymbol
ERCC6L2
resolver
genesymbol_syn
C9orf102
resolver
genesymbol_syn
RAD26L
resolver
hgnc
HGNC:26922
resolver
uniprot
A0A590UJ07
resolver
uniprot
A0A590UJ12
resolver
uniprot
A0A590UJA1
resolver
uniprot
A0A590UJK0
resolver
uniprot
A0A5F9UKL4
resolver
uniprot
A0A804HJ75
resolver
uniprot
A0A804HK79
resolver
uniprot
A0AAQ5BIG0
resolver
uniprot
A4D997
resolver
uniprot
B2RTP8
resolver
uniprot
Q49AM9
resolver
uniprot
Q5T892
resolver
uniprot
Q8N663
resolver
uniprot
Q8N9D0
resolver
uniprot
Q9NPM7
resolver
uniprot_entry
A0A590UJ12_HUMAN
resolver
uniprot_entry
A0A590UJA1_HUMAN
resolver
uniprot_entry
A0A590UJK0_HUMAN
resolver
uniprot_entry
A0A5F9UKL4_HUMAN
resolver
uniprot_entry
A0A804HJ75_HUMAN
resolver
uniprot_entry
A0A804HK79_HUMAN
resolver
uniprot_entry
A0AAQ5BIG0_HUMAN
resolver
uniprot_entry
ER6L2_HUMAN
resolver
uniprot_sec
A0A590UJ07
resolver
uniprot_sec
A4D997
resolver
uniprot_sec
B2RTP8
resolver
uniprot_sec
Q49AM9
resolver
uniprot_sec
Q5T892
resolver
uniprot_sec
Q8N663
resolver
uniprot_sec
Q8N9D0
resolver
uniprot_sec
Q9NPM7
resolver
amino_acid_sequence
MQPGSAPPPGRMDPSAPQPRAETSGKDIWHPGERCLAPSPDNGKLCEASIKSITVDENGKSFAVVLYADFQERKIPLKQLQEVKFVKDCPRNLIFDDEDLEKPYFPNRKFPSSSVAFKLSDNGDSIPYTINRYLRDYQREGTRFLYGHYIHGGGCILGDDMGLGKTVQVISFLAAVLHKKGTREDIENNMPEFLLRSMKKEPLSSTAKKMFLIVAPLSVLYNWKDELDTWGYFRVTVLHGNRKDNELIRVKQRKCEIALTTYETLRLCLDELNSLEWSAVIVDEAHRIKNPKARVTEVMKALKCNVRIGLTGTILQNNMKELWCVMDWAVPGLLGSGTYFKKQFSDPVEHGQRHTATKRELATGRKAMQRLAKKMSGWFLRRTKTLIKDQLPKKEDRMVYCSLTDFQKAVYQTVLETEDVTLILQSSEPCTCRSGQKRRNCCYKTNSHGETVKTLYLSYLTVLQKVANHVALLQAASTSKQQETLIKRICDQVFSRFPDFVQKSKDAAFETLSDPKYSGKMKVLQQLLNHCRKNRDKVLLFSFSTKLLDVLQQYCMASGLDYRRLDGSTKSEERLKIVKEFNSTQDVNICLVSTMAGGLGLNFVGANVVVLFDPTWNPANDLQAIDRAYRIGQCRDVKVLRLISLGTVEEIMYLRQIYKQQLHCVVVGSENAKRYFEAVQGSKEHQGELFGIHNLFKFRSQGSCLTKDILEREGQVEAGIMTATTWLKEGPPAHKLEMPRQPDCQECRGTEQAAEPLAKEACDLCSDFSDEEPVGATGIKTAKNKAPDSSKASSSPGQLTLLQCGFSKLLETKCKAVEDSDGNTASDDESSDEQPTCLSTEAKDAGCEKNQDSLGTSKHQKLDNILNPKEKHIFYKSEKILEQNISSKSDEKKIKNTDKHCILQNVTESEDSDVICPTQYTTERFPDNSIRFKPPLEGSEDSETEHTVKTRNNDNSRNTDDKRNGIISKKLSPENTTLKSILKRKGTSDISDESDDIEISSKSRVRKRASSLRFKRIKETKKELHNSPKTMNKTNQVYAANEDHNSQFIDDYSSSDESLSVSHFSFSKQSHRPRTIRDRTSFSSKLPSHNKKNSTFIPRKPMKCSNEKVVNQEQSYESMDKFLDGVQEVAYIHSNQNVIGSSKAENHMSRWAAHDVFELKQFSQLPANIAVCSSKTYKEKVDADTLPHTKKGQQPSEGSISLPLYISNPVNQKKKKVYHTNQTTFIIGETPKGIRRKQFEEMASYFNSSSVNEFAKHITNATSEERQKMLRDFYASQYPEVKEFFVDSVSQFNNSSFEKGEQRTRKKSDKRESLIKPRLSDSETLSFKDSTNKISQVCSLKTYKRKSVKFQNHISYREEVFFNDAETKKSPVSSTQEIDSGKNSQASEDTVTSRSLNSESETRERRLENTMKDQQDLTRTGISRKEPLLKLENKKIENPVLENTSVISLLGDTSILDDLFKSHGNSPTQLPKKVLSGPMEKAKQRPKDFWDILNEQNDESLSKLTDLAVIETLCEKAPLAAPFKRREEPATSLWKSNEKFLWKKFSPSDTDENATNTQSTT
uniprot
proteins
disease_involvement
DISEASE: Bone marrow failure syndrome 2 (BMFS2) [MIM:615715]: An autosomal recessive disorder characterized by trilineage bone marrow failure, bone marrow hypocellularity, learning difficulties, and microcephaly. Insufficient hematopoiesis results in peripheral blood cytopenias, affecting myeloid, erythroid and megakaryocyte lines. Cutaneous features and increased chromosome breakage are not features. {ECO:0000269|PubMed:24507776}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.-
uniprot
proteins
function
FUNCTION: Promotes double-strand break (DSB) end-joining and facilitates programmed recombination by controlling how DNA ends are joined in a spatially oriented manner during repair (By similarity). Also plays a role in DNA repair by restricting DNA end resection in double strand break (DSB) repair (PubMed:24507776, PubMed:37014751). Facilitates replication of complex DNA regions and regulates the maintenance of chromatin structure (PubMed:37014751). {ECO:0000250|UniProtKB:Q9JIM3, ECO:0000269|PubMed:24507776, ECO:0000269|PubMed:37014751}.
uniprot
proteins
mass_dalton
177127
uniprot
proteins
mutagenesis
MUTAGEN 798; /note="Q->A: Affects centromeric localization. Affects localization at sites of DNA replication."; /evidence="ECO:0000269|PubMed:37014751"; MUTAGEN 804; /note="C->A: Affects centromeric localization. Affects localization at sites of DNA replication."; /evidence="ECO:0000269|PubMed:37014751"; MUTAGEN 806; /note="F->A: Affects centromeric localization. Affects localization at sites of DNA replication."; /evidence="ECO:0000269|PubMed:37014751
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by NEK6. {ECO:0000269|PubMed:20873783}.
uniprot
proteins
protein_family
SNF2/RAD54 helicase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20873783
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24507776
uniprot
proteins
pubmed
32355287
uniprot
proteins
pubmed
37014751
uniprot
proteins
sequence_length
1561
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24507776, ECO:0000269|PubMed:32355287}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20873783}. Mitochondrion {ECO:0000269|PubMed:24507776}. Chromosome, centromere {ECO:0000269|PubMed:37014751}. Note=Colocalizes with NEK6 in the centrosome (PubMed:20873783). In response to DNA damage, translocates from the cytosol to mitochondria and nucleus in a reactive oxygen species (ROS)-dependent manner (PubMed:24507776). Centromeric localization is facilitated by its interaction with PCNA (PubMed:37014751). {ECO:0000269|PubMed:20873783, ECO:0000269|PubMed:24507776, ECO:0000269|PubMed:37014751}.
uniprot
proteins