Property Summary

NCBI Gene PubMed Count 6
PubMed Score 2.40
PubTator Score 0.50

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
osteosarcoma 7933 1.82263140670934E-5
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00547632355845152

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 1.741 0.000
intraductal papillary-mucinous adenoma (... 1.200 0.005

Synonym

Accession Q5T890 A4D997 B2RTP8 Q49AM9 Q5T892 Q8N663 Q8N9D0 Q9NPM7
Symbols BMFS2
SR278
RAD26L
C9orf102

Gene

  Ortholog (8)

Species Source
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Dog OMA EggNOG
Horse OMA EggNOG
Cow OMA EggNOG
Pig OMA EggNOG
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG

 GWAS Trait (1)

Pathway (1)

Gene RIF (1)

PMID Text
24507776 These observations identify a distinct bone-marrow-failure syndrome due to mutations in ERCC6L2, a gene implicated in DNA repair and mitochondrial function.

AA Sequence

MQPGSAPPPGRMDPSAPQPRAETSGKDIWHPGERCLAPSPDNGKLCEASIKSITVDENGKSFAVVLYADF      1 - 70
QERKIPLKQLQEVKFVKDCPRNLIFDDEDLEKPYFPNRKFPSSSVAFKLSDNGDSIPYTINRYLRDYQRE     71 - 140
GTRFLYGHYIHGGGCILGDDMGLGKTVQVISFLAAVLHKKGTREDIENNMPEFLLRSMKKEPLSSTAKKM    141 - 210
FLIVAPLSVLYNWKDELDTWGYFRVTVLHGNRKDNELIRVKQRKCEIALTTYETLRLCLDELNSLEWSAV    211 - 280
IVDEAHRIKNPKARVTEVMKALKCNVRIGLTGTILQNNMKELWCVMDWAVPGLLGSGTYFKKQFSDPVEH    281 - 350
GQRHTATKRELATGRKAMQRLAKKMSGWFLRRTKTLIKDQLPKKEDRMVYCSLTDFQKAVYQTVLETEDV    351 - 420
TLILQSSEPCTCRSGQKRRNCCYKTNSHGETVKTLYLSYLTVLQKVANHVALLQAASTSKQQETLIKRIC    421 - 490
DQVFSRFPDFVQKSKDAAFETLSDPKYSGKMKVLQQLLNHCRKNRDKVLLFSFSTKLLDVLQQYCMASGL    491 - 560
DYRRLDGSTKSEERLKIVKEFNSTQDVNICLVSTMAGGLGLNFVGANVVVLFDPTWNPANDLQAIDRAYR    561 - 630
IGQCRDVKVLRLISLGTVEEIMYLRQIYKQQLHCVVVGSENAKRYFEAVQGSKEHQGELFGIHNLFKFRS    631 - 700
QGSCLTKDILEREGQVEAGIMTATTWLKEGPPAHKLEMPRQPDCQECRGTEQAAEPLAKEACDLCSDFSD    701 - 770
EEPVGATGIKTAKNKAPDSSKASSSPGQLTLLQCGFSKLLETKCKAVEDSDGNTASDDESSDEQPTCLST    771 - 840
EAKDAGCEKNQDSLGTSKHQKLDNILNPKEKHIFYKSEKILEQNISSKSDEKKIKNTDKHCILQNVTESE    841 - 910
DSDVICPTQYTTERFPDNSIRFKPPLEGSEDSETEHTVKTRNNDNSRNTDDKRNGIISKKLSPENTTLKS    911 - 980
ILKRKGTSDISDESDDIEISSKSRVRKRASSLRFKRIKETKKELHNSPKTMNKTNQVYAANEDHNSQFID    981 - 1050
DYSSSDESLSVSHFSFSKQSHRPRTIRDRTSFSSKLPSHNKKNSTFIPRKPMKCSNEKVVNQEQSYESMD   1051 - 1120
KFLDGVQEVAYIHSNQNVIGSSKAENHMSRWAAHDVFELKQFSQLPANIAVCSSKTYKEKVDADTLPHTK   1121 - 1190
KGQQPSEGSISLPLYISNPVNQKKKKVYHTNQTTFIIGETPKGIRRKQFEEMASYFNSSSVNEFAKHITN   1191 - 1260
ATSEERQKMLRDFYASQYPEVKEFFVDSVSQFNNSSFEKGEQRTRKKSDKRESLIKPRLSDSETLSFKDS   1261 - 1330
TNKISQVCSLKTYKRKSVKFQNHISYREEVFFNDAETKKSPVSSTQEIDSGKNSQASEDTVTSRSLNSES   1331 - 1400
ETRERRLENTMKDQQDLTRTGISRKEPLLKLENKKIENPVLENTSVISLLGDTSILDDLFKSHGNSPTQL   1401 - 1470
PKKVLSGPMEKAKQRPKDFWDILNEQNDESLSKLTDLAVIETLCEKAPLAAPFKRREEPATSLWKSNEKF   1471 - 1540
LWKKFSPSDTDENATNTQSTT                                                    1541 - 1561
//

Text Mined References (12)

PMID Year Title
24507776 2014 ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
20873783 2010 Characterization of hNek6 interactome reveals an important role for its short N-terminal domain and colocalization with proteins at the centrosome.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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