KEGG   Homo sapiens (human): 375748
Entry
375748            CDS       T01001                                 
Symbol
ERCC6L2, BMFS2, C9orf102, HEBO, RAD26L, SR278
Name
(RefSeq) ERCC excision repair 6 like 2
  KO
K20098  DNA excision repair protein ERCC-6-like 2 [EC:5.6.2.-]
Organism
hsa  Homo sapiens (human)
Disease
H02529  Bone marrow failure syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    375748 (ERCC6L2)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  Other factors with a suspected DNA repair function
   Helicases
    375748 (ERCC6L2)
SSDB
Motif
Pfam: SNF2-rel_dom Helicase_C RHH_ERCC6L2 ResIII DEAD VIGSSK ERCC3_RAD25_C Helicase_C_2
Other DBs
NCBI-GeneID: 375748
NCBI-ProteinID: NP_064592
OMIM: 615667
HGNC: 26922
Ensembl: ENSG00000182150
UniProt: Q5T890 A0AAQ5BIG0
Structure
Position
9:95875691..96041092
AA seq 1550 aa
MDPSAPQPRAETSGKDIWHPGERCLAPSPDNGKLCEASIKSITVDENGKSFAVVLYADFQ
ERKIPLKQLQEVKFVKDCPRNLIFDDEDLEKPYFPNRKFPSSSVAFKLSDNGDSIPYTIN
RYLRDYQREGTRFLYGHYIHGGGCILGDDMGLGKTVQVISFLAAVLHKKGTREDIENNMP
EFLLRSMKKEPLSSTAKKMFLIVAPLSVLYNWKDELDTWGYFRVTVLHGNRKDNELIRVK
QRKCEIALTTYETLRLCLDELNSLEWSAVIVDEAHRIKNPKARVTEVMKALKCNVRIGLT
GTILQNNMKELWCVMDWAVPGLLGSGTYFKKQFSDPVEHGQRHTATKRELATGRKAMQRL
AKKMSGWFLRRTKTLIKDQLPKKEDRMVYCSLTDFQKAVYQTVLETEDVTLILQSSEPCT
CRSGQKRRNCCYKTNSHGETVKTLYLSYLTVLQKVANHVALLQAASTSKQQETLIKRICD
QVFSRFPDFVQKSKDAAFETLSDPKYSGKMKVLQQLLNHCRKNRDKVLLFSFSTKLLDVL
QQYCMASGLDYRRLDGSTKSEERLKIVKEFNSTQDVNICLVSTMAGGLGLNFVGANVVVL
FDPTWNPANDLQAIDRAYRIGQCRDVKVLRLISLGTVEEIMYLRQIYKQQLHCVVVGSEN
AKRYFEAVQGSKEHQGELFGIHNLFKFRSQGSCLTKDILEREGQVEAGIMTATTWLKEGP
PAHKLEMPRQPDCQECRGTEQAAEPLAKEACDLCSDFSDEEPVGATGIKTAKNKAPDSSK
ASSSPGQLTLLQCGFSKLLETKCKAVEDSDGNTASDDESSDEQPTCLSTEAKDAGCEKNQ
DSLGTSKHQKLDNILNPKEKHIFYKSEKILEQNISSKSDEKKIKNTDKHCILQNVTESED
SDVICPTQYTTERFPDNSIRFKPPLEGSEDSETEHTVKTRNNDNSRNTDDKRNGIISKKL
SPENTTLKSILKRKGTSDISDESDDIEISSKSRVRKRASSLRFKRIKETKKELHNSPKTM
NKTNQVYAANEDHNSQFIDDYSSSDESLSVSHFSFSKQSHRPRTIRDRTSFSSKLPSHNK
KNSTFIPRKPMKCSNEKVVNQEQSYESMDKFLDGVQEVAYIHSNQNVIGSSKAENHMSRW
AAHDVFELKQFSQLPANIAVCSSKTYKEKVDADTLPHTKKGQQPSEGSISLPLYISNPVN
QKKKKVYHTNQTTFIIGETPKGIRRKQFEEMASYFNSSSVNEFAKHITNATSEERQKMLR
DFYASQYPEVKEFFVDSVSQFNNSSFEKGEQRTRKKSDKRESLIKPRLSDSETLSFKDST
NKISQVCSLKTYKRKSVKFQNHISYREEVFFNDAETKKSPVSSTQEIDSGKNSQASEDTV
TSRSLNSESETRERRLENTMKDQQDLTRTGISRKEPLLKLENKKIENPVLENTSVISLLG
DTSILDDLFKSHGNSPTQLPKKVLSGPMEKAKQRPKDFWDILNEQNDESLSKLTDLAVIE
TLCEKAPLAAPFKRREEPATSLWKSNEKFLWKKFSPSDTDENATNTQSTT
NT seq 4653 nt   +upstreamnt  +downstreamnt
atggatccgtcggcgccacagccccgcgcggaaacctcaggcaaagacatatggcatcca
ggagaaagatgtcttgccccttctccagataatggaaaactttgtgaagcaagcataaaa
tctatcacagtggatgaaaatggcaagtcatttgcagtcgtcttatatgcagattttcaa
gaaaggaaaatacctcttaaacagcttcaagaagtgaaatttgttaaagattgccctagg
aatcttatatttgatgatgaagatttagaaaaaccttatttcccaaaccgaaaatttcca
tcatcttctgttgcttttaaattatctgacaatggagactctattccttataccatcaat
aggtatttgagagactaccaaagagaaggaacccggtttctttatggacactacatccat
ggaggagggtgcattctgggtgatgacatgggacttggaaaaacagtacaggttatttca
tttctggctgcagttttgcataaaaagggaactcgtgaggatattgaaaataacatgcca
gagtttttactaagaagtatgaaaaaggaacccctttcttctacagcaaaaaagatgttc
ttaatagttgctcctctttctgtcctctacaactggaaggatgaattggacacctgggga
tatttcagagtcactgttttacatggaaacagaaaagataatgaattaattcgtgtaaag
cagaggaaatgtgaaattgctctaacaacttatgaaacactacgcttatgcctggatgaa
cttaacagtttggaatggtcagctgtcattgtggatgaagctcatagaatcaagaatcca
aaagctagagtaacagaagttatgaaagctttgaaatgtaatgtccgcattggcctcact
ggaaccatccttcagaacaacatgaaggaactgtggtgtgttatggactgggctgtgcca
ggccttttagggagtgggacctacttcaagaagcagttttctgacccagtagaacatggt
cagagacacacggcaacaaagagagaactagccactggccgaaaggccatgcaaagactt
gccaaaaagatgtctggctggtttctcaggcgcaccaagactcttatcaaggatcagttg
cctaagaaggaagaccggatggtgtattgttctttgacagatttccagaaagctgtctat
caaacagtgttagaaacagaggacgtgactttgatacttcaatcttctgagccttgtacc
tgtaggagtggccaaaaaaggagaaattgttgttataagaccaattctcatggtgaaaca
gtgaaaaccttgtatctcagttaccttacagtccttcagaaggtagctaaccatgtcgcg
ctactgcaagctgctagtacttccaaacaacaggaaacacttatcaaaaggatatgtgat
caggtattttccagattcccagattttgtgcagaaaagcaaagatgcagcctttgaaaca
ctttctgaccctaaatacagtggaaaaatgaaggtccttcagcagcttttaaatcattgc
aggaaaaacagagataaagttcttctcttttctttttccaccaagttgcttgacgtgcta
cagcagtactgtatggcgtctgggcttgattaccgacgacttgatggaagtacaaaatca
gaggaaagactcaagattgtaaaagagttcaacagtacacaagatgttaacatttgcctt
gtctctacaatggctggtggactaggcctcaattttgtcggtgccaatgttgttgtatta
tttgatcctacttggaatccagccaatgatcttcaagccattgacagagcatataggatt
ggacaatgtagagatgtcaaagtgcttaggctgatatccttgggaactgtggaggaaatc
atgtatttacgacagatatacaagcagcaacttcactgtgtggtggttggaagtgaaaat
gccaaacgatattttgaagcagttcaaggatctaaagagcatcaaggagagctttttggg
atccataacctcttcaaatttaggtcccaagggtcttgtcttacgaaggacatcctggag
agagaaggccaagtagaagcagggatcatgacagccacaacatggttgaaagagggacct
ccagcacacaaactggaaatgcctagacagcctgactgtcaggaatgcagaggtacagaa
caagctgcagagccactggcaaaggaagcatgtgatctctgcagtgacttcagtgatgaa
gagccagtgggagccacaggaataaagactgccaaaaacaaagcacccgattcaagtaaa
gcttccagctctccaggacagcttaccttactccagtgtggtttctcgaaattgcttgaa
acaaaatgtaaagcagttgaggatagtgatggaaatactgcctctgatgatgaaagttct
gatgagcagcccacatgcctttcaacagaagccaaagatgctggttgtgagaaaaatcag
gactctcttggtacttcaaaacatcagaaattagataacatcctaaatccaaaagaaaag
catattttttataaaagtgagaagattttagaacagaatatttcttccaagtctgacgag
aaaaaaattaaaaatacagataaacattgcattttacagaatgtcacagaatcagaagat
agtgatgtcatctgtcctacacaatacacaactgagagattccccgacaatagtataagg
tttaagccacccttggaaggatctgaggattctgaaacagaacacactgtaaaaacaaga
aataatgataatagtcgaaacactgatgacaaaagaaatggaataatttcaaaaaagtta
agtcctgagaacacaaccctgaaatctattttgaaaagaaaaggcaccagtgatatcagt
gatgaatctgatgacattgaaatttcttccaagtcaagagtaagaaagagagctagttca
ttgaggtttaagagaataaaagaaaccaaaaaagaacttcacaattctcccaaaacaatg
aacaaaacaaaccaagtgtatgcagcaaatgaggatcataactctcagtttattgatgat
tattcatcctcagatgagagtttatccgtcagccacttcagtttctctaaacagagccac
agaccaagaactataagagacagaactagtttttcttcaaaattgcctagccataataag
aaaaatagcacttttattccaagaaaaccaatgaaatgttcaaatgagaaagttgttaat
caagagcagtcgtatgaatcaatggataaatttttagatggcgttcaggaagtggcttat
attcactcaaaccagaatgtaattggatcgagcaaagctgaaaatcacatgagccgatgg
gcagcacatgacgtatttgagttgaagcagttttctcagctgcctgctaacatagctgtt
tgcagttctaagacatataaagaaaaagtggatgcagatacattgccacacacaaagaaa
ggccagcaaccgagtgaaggcagcatttcacttcctctttacatttcaaatcctgtaaac
cagaagaagaaaaaagtctaccatacaaaccagaccaccttcataattggagaaacacca
aaaggaatccgcagaaaacaatttgaagaaatggcctcttattttaactcgtcttctgta
aacgaatttgctaaacatataaccaatgccacatcagaagaacgacagaaaatgctaaga
gacttttatgcttctcaatatccagaggtaaaagaattttttgtggattctgtgtcacaa
ttcaacaattcttcctttgagaaaggagagcagcgcacccggaagaaatctgataaaaga
gaatctcttataaaaccaaggctgtcagattctgaaaccttgtcatttaaagattctacc
aacaaaatttctcaagtttgcagcctaaaaacatataaaagaaaatcagttaagtttcag
aatcatatttcctatagagaagaggtgttttttaatgatgcagaaactaagaaatcacct
gttagttctactcaagagattgacagtgggaaaaacagccaggcatccgaagatactgtg
acatcccgttctctgaacagtgagtctgaaacacgtgagagaaggttagaaaataccatg
aaagaccaacaggacctcacaagaacgggcatttcaagaaaagaaccccttctcaaattg
gaaaacaaaaagatagaaaatccagtgctggaaaatacttctgtgataagcttacttggt
gatacctctattcttgatgacctttttaaaagtcatgggaacagtcccacacaactgcca
aagaaagttctttcagggcccatggaaaaagcaaaacagagaccaaaagatttctgggac
atcttgaatgagcagaatgatgagagtcttagtaaactcacagacttggcagtaatagag
actctgtgtgaaaaagcacctctagcagcaccctttaaaaggagagaagagccagcaact
tctctttggaaatcaaatgagaaatttttatggaagaaatttagcccaagtgatacagat
gaaaacgcaaccaatacacagagtaccacataa

  All links  
Disease (2)   
   OMIM (2)   
Gene (29)   
   RefGene (20)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (27)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (24)   
DNA sequence (62)   
   RefSeq(nuc) (26)   
   GenBank (18)   
   EMBL (18)   
3D Structure (2)   
   PDB (2)   
Protein domain (8)   
   Pfam (8)   
All databases (130)   

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